PEDMEDISAZ

Anti-histone

- drug induced lupus (procainamide, hydralazine, chlorpromazine, quinidine) - SLE (will have other + antibodies as well) - is SENSITIVE for drug-induced lupus (meaning if negative, rules it out)

Most common cause of fulminant liver failure in the US

- drugs (#1 is tylenol)

Gleevec side effects

- edema - CHF exacerbation/worsening of LV dysfunction - hepatotoxicity - cytopenia - hemorrhage

Waldenstrom macroglobulinemia features

- elevated IgM levels - older men - hyperviscosity is common - median survival is 5 years - purpura is common

Side effect of interferon-beta therapy

- elevated LFTs - Should have twice yearly LFTs for monitoring Other side effects: - flu-like symptoms - lymphopenia - depression - migraines

Long term effect of inhalant abuse

- encephalopathy (cognition, vision, hearing, motor function) Cardiac arrhythmia can occur with one-time use, but not an effect of long term use - can get N/V, HA, dizziness after each use

Recognizing MCAD (medium-chain aceyl-CoA dehydrogenase deficiency)

- episodic HYPOketotic, HYPOglycemia with HYPERammonemia and elevated LFTs - often presents after period of illness or fasting - usually in the first 2 years INCLUDED in newborn screen

Measles vaccine

- everyone born in/after 1957 should get vaccine if prior vaccine/illness documentation not available - very uncommonly causes fetal problems (Rubella much more likely) - egg allergy is NOT a contraindication - HIV+ patients SHOULD get the vaccine

OA of the hip

- exertional pain - felt in the groin area (not the lateral thigh - think trochanteric bursitis). Can also radiate to the knee Diagnosis: Pain + 2 of the following - ESR <20 - Femoral or acetabular osteophytes - joint space narrowing

Diagnosing a tet spell

- hypoxia - DECREASE in murmur (loud PS murmur is now quieter b/c instead of VSD shunt going out the PA, there is a R-->L shunt, so less PS murmur) Treatment is to increased SVR - knee chest maneuver

Asymptomatic hematuria

- isolated asymptomatic microscopic hematuria is relatively common in school-aged children - it is less common to be persistent (>6 mos) or associated with proteinuria. These should both see Nephrology.

urine studies in ATN

- isoosmolar (osm 300-350) - large, muddy brown granular casts - urine Na >20 (<20 in prerenal) don't have to be oliguric to be ATN

Night Terrors

- non-REM sleep - usually midnight -2AM - appears to awake but is unresponsive, very upset - will not remember in the AM - should NOT wake the child, may prolong the episode - associated with sleep walking

Diarrhea labs

- non-gap metabolic acidosis - high chloride (bicarb lost in the stool, chloride is reabsorbed to increase intravascular volume)

Treatment of radicular back pain

- non-opioid analgesics - mobilization as tolerated 3/4 of those with sciatica are much better in 3 mos w/o surgery

Early management of meniscus tear

- non-weight bearing - crutches - referral to ortho

Labs and treatment in hemophilia

- normal PT, long PTT Severity of hemophilia A depends on amt of functional factor. Mild: >5% normal, moderate 1-5% normal, severe <1% normal Can treat mild hemophilia A with DDAVP (prophylaxis for teeth extraction, etc.). More severe hemophilia needs factor VIII concentrate. Hemophilia B has to be treated with factor IX

vWD lab tests

- normal PT, prolonged PTT - normal CBC - elevated bleeding time - type 2B has abnormal ristocetin-induced platelet aggregation

Recognizing MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes)

- normal early development - childhood-onset myopathy - seizures - stroke-like episodes associated with periods of regression - Labs: lactic acidosis (serum and CSF) - elevated CSF protein

GH deficiency manifestations

- normal growth parameters at birth - severe GH deficiency will have fall of growth parameters by 1 year Associated with: - micropenis - hypoglycemia - direct hyperbilirubinemia Facial features over time: - round head, short/broad face - prominent frontal bone - saddle-shaped nose - high pitched voice

Sickle Cell features

- normal hemoglobin and RBC indices at birth - usually get anemia and reticulocytosis starting at 2-6 mos - first pain crisis in 1/3 of patients is dactylitis (symmetric, painful swelling of hands/feet)

Characteristics of inflammatory anemia (anemia of chronic dz)

- normal or low Fe - low TIBC - elevated ferritin - smear is normal OR microcytic/hypochromic - Retic low

Toe walking

- normal stage of gait development in children younger than 4 - should rule out neuromuscular disorders with history/physical - toe walking persisting longer than age 5 is more common in children with neurocognitive disorders

Features of pure red cell aplasia

- normo or hypercellular marrow (vs aplastic anemia with hypocellular) - reduced iron turnover - EPO levels elevated - retic count low

Recognizing submucous cleft palate

- notched or v-shaped junction of the hard and soft palates - bifid uvula - often have recurrent otitis media adenoidectomy is CONTRAINDICATED b/c of acquired veloppharyngeal insufficiency after the procedure

Posterior Urethral Valves

- obstructing leaflets in the prostatic urethra the MOST common cause of urinary obstruction in male infants - usually noted in utero d/t bilateral hydro (or after birth with VCUG) - need immediately bladder drainage - ultimately do valve ablation

Cyclic neutropenia

- occurs at a regular interval of every 21 +/- 3 days - get 3-5 day periods of neutropenia with ANC <200. Have fever, stomatitis, lymphadenitis, rectal/vaginal ulcers. Infections can be fatal - Manage: G-CSF and antibiotics

Apathetic hyperthyroidism

- often in older people - only symptoms are tremor and tachycardia. Don't get the palpitations, heat intolerance, etc

Management of bat exposure

- often the bat or scratch isn't visible - if not certain that there was no injury, should get rabies prophylaxis (or euthanize the animal and do autopsy if possible). - rabies ppx: rabies IG and vaccine at day 0, then vaccine at days 3, 7, 14

Autoimmune hepatitis

- often with family hx of autoimmune diseases - can have other positive antibodies on labs (anti-mitochondrial Ab can be +, but does not mean the patient has PBC) - Hep C ab can be +, with negative RNA - a false positive Treatment: Prednisone, Azathioprine

Diagnosis/management of subarachnoid hemorrhage

- once obvious blood in the cisterns, need 4 vessel angiography to locate the location of the bleed - N/S will need this to intervene, wouldn't go for surgery without it

Signs/Sxs of RA

- one to several hours of morning stiffness (OA <30 min) - fatigue - low-grade fever - anorexia - weight loss SYMMETRIC, POLYARTICULAR Joints involved usually MCP and PIP (not DIP) Boutonniere deformity in advanced disease Can also involve - TMJ joints - knee (most common single joint involved) - forefoot (5th metatarsal head) - cspine (usually not lower spine)

Evidence of dextromethorphan abuse

- sympathetic stimulation (tachycardia, dilated pupils, diaphoresis) - gait disturbance - euphoria or hallucinations

Whipple's Triad

- symptoms of hypoglycemia - low serum BG - improvement with glucose administration

Typical brain tumor presentations

- symptoms of increased ICP (HA, vomiting, irritability) - diplopia 2/2 6th nerve palsy is common - Infants: irritability, anorexia, vomiting, bulging fontanelle - impairment of upgaze and downward deviation of the eyes (sun-setting)

Salicylate overdose

- tachypnea - fever - lethargy --> coma - diaphoresis - alkalosis --> acidosis

47XXX features

- tall - hypertelorism - hypotonia - cognitive deficits - ADD/mood disorders

Erythema multiforme

- target lesions, sometimes with mucous membrane involvement - associated with herpes infection

Joint manifestations of systemic scleroderma

- tendon friction rub, most common in elbow, pathognomonic for scleroderma - can get mild, SYMMETRIC hand stiffness - RARE to involve hand joints

Teardrop cell associations

- thalassemia - myelofibrosis - pernicious anemia - myeloid metaplasia

Androgen Insensitivity Syndrome

- the most common cause of 46XY sexual differentiation disorder - d/t defect in androgen receptor - testes making normal hormones but body doesn't respond - can present as phenotypic female or male with ambiguous genitalia, or can be phenotypically male but infertile. In complete insensitivity, will be phenotypically female but vaginal ends in blind pouch without a uterus. Will get breasts at puberty but no hair. Testosterone levels are high Contrast to Swyer syndrome: Swyer: XY with SRY mutation - phenotypically female, streak gonads, low testosterone Androgen insensitivity: XY with mutation in androgen receptor. Variable phenotype. Gonads are testes, and testosterone is high

Fragile X syndrome

- the most common comorbidity in patients with autism Classic physical features: - large ears - elongated face - prominent forehead (sometimes also hyperextensible joints, flat feet, hypotonia, enlarged testes)

Urticaria pigmentosa

- the most common form of mastocytosis in childhood Classic infantile UP: - lesions at birth or up to 1 year after - few mm-several cm, can be macular, papular, or nodular. - Darier Sign!: stroking the lesion results in rapid appearance of erythematous wheal and flare (d/t local histamine release) Can be itchy, and get worse with temperature, stress, friction

Tx of sarcroiliitis

- the seronegative spondyloarthropathies do not respond to steroids - the only drugs helpful are anti-TNF agents (not MTX, cyclophosphamide, etc.)

TTP (Thrombotic Thrombocytopenic Purpura)

- the vWF-cleaving protease ADAMTS13 is deficient - get big vWF multimers that accumulate - lots of platelets are activated, get thrombosis - can be congenital or acquired Sxs: think FARTS, esp the anemia and TCP Labs: - PT and PTT usually normal - c/w hemolysis (LDH, bili) - smear with schistocytes, thrombocytopenia - often with low ADAMTS13 level, but slow test and normal doesn't rule it out. Treatment: plasma exchange (pheresis) - if delay to pheresis, give FFP or steroids. - NO platelets - will exacerbate thrombosis

Causes of hypercalcemia

- thiazide diuretic - primary hyperparathyroidism (esp with hx neck radiation) - myeloma - malignancy - granulomatous disease

Tetanus presentation

- think elderly person with no immunization for years - lockjaw, weird opisthotonic posturing (can look dystonic, but dystonic rxns with lateral head turning, which is rare in tetanus) Tx: give benadryl to r/o dystonic rxn, then use benzos for spasms/rigidity. Get tetanus immunoglobulin and Td vaccine, then Flagyl for 7-10 days and 2 more Td shots.

Facts about ALL relapse

- those who experience longer first remission before relapse have more favorable prognosis than fast relapse - older age (older than 10) is poor prognostic factor for either first ALL or relapse - bone marrow is the most common site of relapse - can do stem cell xplant with matched sibling or unrelated matched donor

Acute cerebellar ataxia

- thought to be post-viral (esp varicella) - get acute onset ataxia, sometimes also horizontal nystagmus and hyporeflexia - mental status will be normal (differentiates from toxic ingestion)

Management of corneal abrasion

- topical ABX - should heal in 24-72 hours, ophtho f/u not needed if small abrasion - no benefit to pressure dressing

Treatment of mild to moderate acne

- topical retinoids OR benzoyl peroxide are first line - topical clinda can be used in combination with BP, not as effective on its own - orals for more severe acne only

Beau lines

- transverse linear depressions - occur with severe systemic illness/stress (chemotherapy, sepsis) - 2/2 temporary disruption of nail production in the nail matrix

Raynaud syndrome

- tricolor change of fingers/toes - White (blanching) --> blue (cyanotic) --> red (vessels dilate with warmth) - In limited and diffuse scleroderma - if getting fingertip ulcerations, likely underlying rheum dz (like scleroderma) rather than isolated Raynaud Treatment: CCBs, ACEi, ARBs, ASA (things to vasodilate)

Managing cholesterol in diabetics

- triglycerides and glycemic control related. - if TG are up and A1c is up, target BG first, TG are likely to improve

Recognizing entamoeba histolytica

- tropical region - abdominal pain - BLOODY stools - fever - incubation is 1-2 weeks (vs Salmonella, which would cause bloody diarrhea, is 72 hours)

Management of congenital hyperinsulinism

- try drugs first (diazoxide, octreotide) - if PET scan shows only focal involvement, can do 50% pancreatectomy if medical mgmt fails - if diffuse involvement, will need 90-95% pancreatectomy

Diagnosis of primary ovarian insufficiency

- two elevated FSH levels with amenorrhea - Think Turner's

Microalbuminuria screening

- type I DM: yearly beginning 5 years after diagnosis - type II DM: yearly at diagnosis

Poison ivy facts

- type IV hypersensitivity reaction (50-75% of the US reacts) - can remain on clothes and cause infection later on - can NOT be spread by touching the vesicular fluid - bathing after exposure doesn't help much to prevent reaction

Bronchoalveolar carcinoma

- type of lung adenocarcinoma - tends to occur in younger patients, women - most common lung ca in nonsmokers - get alveolar-filling process, can be mistaken for PNA or CHF, presents with watery sputum

Hematogenous osteomyelitis

- typically in the metaphysis of the long bone - often after minor trauma - most commonly d/t S aureus, can be S pneumo - Should use Clindamycin empirically (Bactrim and Doxy won't cover GAS or S pneumo)

Constitutional growth delay growth curve

- will have height growth at the bottom of the chart, but then grow later/catch up growth

Primary hyperparathyroidism

- will have high calcium and inappropriately normal PTH level - if the patient develops osteoporosis on DEXA scan d/t this, should have parathyroidectomy

Prognostic factors in NHL

1. Age 2. Serum LDH 3. Ann Arbor stage 4. Performance status 5. Number of extranodal disease sites

Flat warts

- 2/2 HPV, typically types 3 and 10 (sometimes 28, 29) - flesh-colored bumps, usually in areas of trauma

Schistocytes

RBC fragments Seen in hemolytic anemia (TTP, HUS, HELLP, DIC, valve hemolysis) ALSO in severe burns

Harlequin skin

When infant is lying on side, one side red, other pale 2/2 vasomotor instability

Indications for valve replacement in endocarditis

- Heart failure - Abscess - Severe regurgitation - Hemodynamic derangements

Menactra schedule

#1 11-12 years #2 16-18 years

MMR schedule

#1 12 mos #2 4 years

Varicella schedule

#1 12 mos #2 4 years

Hep A schedule

#1 12 mos #2 6-18 mos later

HIB schedule

#1 2 mos #2 4 mos #3 (or #4) 12 mos

PCV13 schedule

#1 2 mos #2 4 mos #3 6 mos #4 12 mos

DTaP schedule

#1 2 mos #2 4 mos #3 6 mos #4 15 mos #5 4 years

IPV schedule

#1 2 mos #2 4 mos #3 6-18 mos #4 4 years

Rotavirus schedule

#1 2 mos #2 4 mos (#3 6 mos if rotateq)

Treatment of hirsutism in PCOS

#1 OCPs --> will decrease LH release (estrogen gives negative feedback) --> decreased testosterone production by the ovary #2 Spironolactone Metformin is less efective than either of those

Hep B schedule

#1 birth #2 1-2 mos #3 6 mos

Hypercalcemia symptoms

(stones, bones, groans, etc) - neuro: fatigue, weakness, confusion - renal: stones - GI: N/V, constipation - get HYPOTONIC and DECREASED reflexes - ECG with SHORT QT interval (and long PR and QRS)

GBS recommendations for ABX

+ GBS screen GBS bacteriuria at any time during pregnancy Prior infant with GBS dz Unknown GBS status plus: <37 weeks, febrile, PROM Meds: - PCN (or ampicillin) once, then Q4H until delivery PCN allergic: Ancef (if not anaphylactic), Clindamycin (if sensitive), Vanc (if resistant to Clinda)

Job syndrome (hyperimmunoglobulin E syndrome)

- 10 fold increase in IgE - have defective chemotaxis, skin disorders, and recurrent infections - get abscesses WITHOUT associated redness/warmth/pain. usually d/t S aureus

CML

- 2-4% of leukemia cases in children - usually associated with the Philadelphia chromosome t(9;22) - presents with chronic phase of 2-4 years of splenomegaly and extreme leukocytosis. Then can progress to blast crisis, acting more like acute leukemia - if present in chronic phase, usually treat initially with Gleevec (would need lifelong therapy)

Rheumatic fever features

- 2/2 GAS from throat only, not skin or soft tissue infections - patients will need prophylactic ABX for 5 years after rheumatic fever - occurs long after the throat infection - delay in tx of strep throat for a few days pending culture is safe.

Spondylosis

- 2/2 defect in pars interarticularis, can result from repetitive flexion (gymnastics, wrestling) - causes low back pain - most common complication is spondylolisthesis: slippage of L5 relative to S1. these patients often have sacral kyphosis, flattened buttocks, and prominent anterior abdominal wall.

Neuroleptic malignant syndrome

- 2/2 haldol often - treat with d/c drug, cool patient, + bromocriptine (DA agonist)

Proliferative Lupus Nephritis features

- 2/2 immune complexes. 6 histologic classes, I and II more indolent. - New onset hypertension - New onset edema - high anti-dsDNA antibodies, low complement - 24H urine protein >500 mg/24H - UA with >10 RBCs, white or red cell casts

Drug-induced erythema nodosum

- 2/2 inflammation in the fat lobules of the anterior shin, resulting in septal panniculitis - Many causes including infection, systemic disease, or drug reaction Most common drugs: antibiotics, OCPs, and hormone therapy

Congenital Adrenal Hyperplasia

- 2/2 one of multiple enzyme deficiencies - lack of cortisol production leads to increased ACTH - Increased ACTH stimulates hyperplasia, and more upstream metabolites are produced

AML features

- 20% of childhood leukemias, 80% of adult leukemias - cure rates lower than ALL, only 40-50% with chemo Presentation: symptoms of the cytopenias, similar overall to ALL. Can get hepatosplenomegaly Look for orbital or epidural chloroma (localized mass of leukemic cells) Diagnosis: bone marrow with 25% myeloblasts. Auer rods 7 types: M2 - mature cells, t(8;21) M3 - APML, t(15;17)

Diagnosis of Cushing Syndrome

- 24 hour urine cortisol - After diagnosing, could get adrenal CT looking for adenoma, but not until high cortisol is established. Suspect with: - DM - HTN - central obesity - hypokalemia - proximal m weakness - edema

Symptoms/signs of basilar skull fracture

- 5 bones make up the basilar skull, temporal bone most often broken d/t fragility - will get tear in the dura, leading to CSF leak into ear or nose - salty taste d/t CSF leak into the nose (can last for 1 week to months) - increased risk of meningitis d/t dural tear (ABX ppx doesn't decrease risk) - Look for battle sign (blood behind the ear) and raccoon eyes (blood around eyes), as well as hemotympanum

Symptoms of delayed hemolytic transfusion reaction

- 5-10 days after red cell xfusion - anemia, jaundice, fever - if underlying sickle cell, get pain crisis

11-beta-hydroxylase deficiency

- 5-8% of CAH due to this - NO salt wasting (contrast to 21-hydroxylase) - Usually has hypertension (due to build up of deoxycorticosterone) Manifestation: hypertension + virilization

Criteria for diagnosis of NF-1

- 6 or more café au lait spots PLUS one of the following: - axillary or inguinal freckles - neurofibromas - optic nerve glioma - Lisch nodule (hamartoma in the iris) - sphenoid bone dysplasia - first degree relative with NF-1 If just with café au lait spots, more can develop into adolescence, which may delay diagnosis.

Congenital cataract

- 60% of the time is idiopathic - can run in families - Can be caused by the TORCH organisms (toxoplasma, rubella, CMV, HSV, other) - can be 2/2 metabolic issues (e.g. galactosemia)

Clinical features of post-transplant lymphoproliferative disease

- 80% of cases occur in the first year - Most associated with EBV infection - Risk factors: EBV, T cell suppression, high doses of TACROLIMUS

Types of ovarian cancers

- 85% epithelial cell (most serous and mucinous) - 5% are germ cell (most of these are BENIGN) - epithelial are more common in post-menopausal and caucasians - germ cell tumors in YOUNG women (ages 10-30)

Head and neck cancers

- 90% associated with smoking, 75% associated with EtOH abuse --> generally preventable - some increased risk with HPV - if found early, can cure with surgery +/- radiation

Features of pernicious anemia

- 90% of patients have anti-parietal cell antibodies - gastrin levels are usually elevated - oral folate can correct/prevent megaloblastic anemia - folate will NOT reverse neuro symptoms (if giving folate, could miss pernicious anemia b/c anemia wouldn't develop)

21-hydroxylase deficiency

- 95% of CAH is due to this Manifestation: - most will have salt losing/virilizing form - 25% will have only virilizing Classic presentation: XY infant presents with adrenal crisis at 2 weeks old

3-beta-hydroxysteroid dehydrogenase deficiency

- <5% of CAH cases - Classic form: salt-wasting in boys and girls - Boys: incomplete virilization with HYPOSPADIAS - get early axillary/pubic hair after infancy d/t high DHEA Nonclassic form: - presents later in life with genital ambiguity, hirsutism, menstrual disorders, hirsutism

Checking cap refill

- >3 seconds is neither specific nor sensitive - should measure in a non-dependent body area above the heart - affected by environmental temperature, vasopressors, poor light condition - a lot of interobserver variation

Temporal arteritis (aka giant cell arteritis)

- >70, female, headache, jaw claudication, vision disturbances - fatigue, anorexia, weight loss - if untreated, 50% of patients will develop BILATERAL blindness

Benign Recurrent Lymphocytic Meningitis

- AKA Mollaret meningitis - most comon cause HSV-2 - recurrent meningitis, lasting 2-5 days, spontaneous recovery

Bismuth subsalicylate intoxication

- AMS - seizure - tachypnea - hyperpyrexia - tachycardia

Kostmann Syndrome (aka familial severe neutropenia)

- ANC <200 - have associated monocytosis and eosinophilia - have severe infections and early death - manage with G-CSF or cure with stem cell xplant

Leukemia most associated with DIC

- APML (M3)

When to use activated charcoal

- ASAP in a toxic ingestion assuming airway is maintained - most usual in first hour - 1g/kg dose

Hemolytic anemia labs

- Haptoglobin LOW (released hemoglobin is bound by haptoglobin) - urine hemosiderin HIGH (Iron is lost in the urine) - LDH HIGH - If antibody or complement-mediated, will have + direct Coombs

Shoulder dislocation facts

- Adolescents are more likely than adults to have recurrent dislocations - thus frequently surgery is recommended - males have higher rate of repeat dislocation - usually with have an associated labrum tear - usually displace anterior and inferior - management: reduce, immobilize for 2-3 weeks, then do PT

Drug-induced ATN facts

- Amphotericin is especially likely to cause ATN (also type I RTA) - Aminoglycosides cause proximal tubule damage (nonoliguric ATN) that will start 7-10 after therapy starts. Therapeutic levels doesn't rule this out as a possibility - Cisplatin (causes mag wasting - high mag in the urine) - Cyclosporine

SLE blood manifestations

- Anemia of chronic disease is most common - leukopenia - thrombosis (2/2 APL syndrome) - TCP - coombs + hemolytic anemia

Autoantibodies associated with polymyositis and dermatomyositis

- Anti-Jo: associated with rapidly progressive interstitial lung dz and "mechanic's hands" (dry, cracked, peeling skin over fingers) - Anti-Mi2: in 20% of patients with dermatomyositis, good prognosis - Anti-SRP: only in severe, aggressive polymyositis - Anti-PM-Scl - Anti-Ku Note, if + for Ro, La, RNP, or Sm, think of a myositis 2/2 underlying other rheum dz, less likely primary PM or DM

Cold hemolytic anemia

- Associated with Mycoplasma and EBV - IgM antibodies bind to RBCs - direct coombs NEGATIVE b/c no IgG

Beta blockers as monotherapy

- Associated with increased risk of stroke and heart disease in patients >60 years

Acquired hemophilia features

- Associated with post-partum state, malignancy, or autoimmune conditions - 50% idiopathic - Get isolated aPTT prolongation - Low factor VIII levels and mixing study without correction (indicates presence of an inhibitor) - Tend to have mucocutaneous and multifocal bleeding - Treat with factor VIII if level is low. If not, treat with recominant factor VIIa

Congenital hypothyroidism

- Asymptomatic at birth - have maternal T4 still. - most commonly due to thyroid dysgenesis. - on newborn screening Classic symptoms: feeding problems, sluggishness, choking with nursing, somnolence, respiratory issues (big tongue), constipation, low temp, extremity edema - look for enlarged posterior fontanelle - bone age delayed 60% of the time - look for absence of the distal femoral epiphysis (normally present at birth) Treatment: goal to start as close to 2 weeks as possible

Aplastic Anemia

- Autoimmune bone marrow failure. Acquired or inherited, 50-70% of cases are idiopathic - Acquired causes: radiation, sulfa, insecticides, viral infections, PNH, lupus - 20% of patients with PNH will get aplastic anemia Clinical: pancytopenia with hypocellular marrow (<20%) ANC level is prognostic. Severe aplastic anemia = 2 of 3 following: - ANC <500 - Platelets <20K - Retic <1% Treatment: - BMT if possible - If no good donor, or older than 40, use immune suppression Patients are at increased risk of acute leukemia

Lichen planus features

- Autoimmune disease that affects scalp, nails, and mucous membranes - Increased frequency in patients with liver dz, esp hep C - Drugs can cause lichenoid reactions (ACEi, thiazides, lasix, gold, antimalarials, beta blockers) - Get polygonal violaceous papules over wrists, flexural aspect of arms and legs, low back, genitals - Get white-reticulated lesions over mucous membranes and chronic, painful erosions in the mouth Treat with topical steroids, calcineurin inhibitors

Treatment of SLE

- Avoid stress (surgery during active disease, UV light for rashes) - Joint disease: NSAIDs, DMARDs if not responding - High dose steroids for severe disease with major organ involvement - Generally require low-dose maintenance steroids (<10 mg/day) for control of symptoms and flare prevention - Use cytotoxics (Azathioprine, Cellcept, cyclophosphamide) + steroids for severe flares (esp kidney, brain dz)

Use of breast MRI

- BRCA + pateints - first degree relatives with BRCA - high lifetime breast ca risk - radiation ages 10-30 - Tp53 or PTEN mutations

Clinical features of osteoporosis

- Back pain - Protuberant lower abdomen - Pulmonary dysfunction: TLC drops d/t changes in shape/size of thoracic cavity - Dorsal kyphosis

ABX to avoid while on MTX

- Bactrim - PCN

Differential for hemihypertrophy

- Beckwith-Wiedemann - Proteus syndrome - Klippel-Trenaunay-Weber syndrome - neurofibromatosis type I

Treatment of acute dystonic reaction

- Benztropine (OR benadryl)

Diagnosis in severe (hospitalized) community-acquired PNA

- Blood cultures - urinary antigens - endotracheal aspirate for culture Bronchoscopy is equivalent to the above, and therefore not routinely needed

Ovarian cancer diagnosis/staging

- CA-125 levels up (good for screening, doesn't impact prognosis) - AFP and hCG are up in germ cell types, NOT in epithelial - staging is done with CTs of chest/a/p - may need laparotomy to see smaller peritoneal seeding Stages: I - confined to ovary II - in adjacent pelvic structures III - distant abdominal mets IV - mets outside the abdomen/nodes

Late cardio complications of Hodgkin's treatment

- CAD - valve disease - diastolic dysfunction - restrictive cardiomyopathy - pericardial constriction 2/2 chemo and radiation Should have low threshold to cath young people with this history

Autoimmune Hemolytic Anemia associations

- CLL - lymphoma - lupus - mono (EBV infection)

CPPD deposition disease background

- Calcium pyrophosphate dihydrate crystals cause chondrocalcinosis (calcium in the cartilage) - causes pseudo-gout, also pseudo-RA, pseudo-OA, or is asymptomatic Diagnostic features: - if idiopathic, usually in patients 60 or older - most CPPD patients have underlying joint damage (OA or trauma) - If patient <50, consider a precipitating condition (primary hyperparathyroidism, hemochromatosis, hypothyroidism)

Eosinophilic Esophagitis

- Can be 2/2 GERD - To tx, first use PPI for 6 weeks to exclude GERD - If no response to PPI, then start swallowed Flovent

Diseases associated with risk of lymphoma

- Hashimoto's thyroiditis - Sjogren Syndrome - Celiac disease - Chronic H pylori - HIV/AIDS

Hereditary Spherocytosis features

- Can be asymptomatic or cause significant hemolysis - Usually Autosomal Dominant - Get splenomegaly, pigmented gallstones (2/2 chronic hemolysis), chronic fatigue/exercise intolerance - Spherocytes on smear - Labs: elevated retic, indirect bili, and LDH Diagnose with osmotic fragility test

Diagnosis of SLE

- Can be diagnosed with constellation of signs/sxs, even without labs Labs: ANA is most sensitive, but not specific. ANA subtypes: - anti-dsDNA and anti-Sm are most specific, but not sensitive If working up for lupus, order this: 1. ANA. If positive: 2. ANA profile 3. if suspicious with negative ANA, order SSA (Ro) and SSB (La)

Pseudogout with stressors

- Can be precipitated by an infection, surgery, or trauma

Effect of danazol on pregnancy

- Can be virilizing to the female fetus, results in ambiguous genitalia

Pain from bisphosphonates

- Can cause a generalized pain syndrome - pain in muscles and joints diffusely. - more common with weekly or monthly dosing.

RA C spine disease

- Can get C1-2 subluxation, seen on lateral flexion/extension xrays - suspect with recurrent headaches at the base of the skull and radiating to the scalp - no surgery needed if asymptomatic - all patients with RA should have neck films before surgery b/c of risk of cspine damage with intubation

Transverse Myelitis features

- Can get post-infectious idiopathic transverse myelitis - see elevated WBCs in CSF Treat: - High dose steroids - If not responding, do plasmapheresis and/or cyclophosphamide

PFTs in neuromuscular disease

- Can have both restrictive lung dz d/t underdevelopment of lungs and chest wall - can have respiratory muscle weakness PFTs will show decreased TLC d/t overall restrictive physiology. will NOT have decreased FEV1 despite the diaphragm weakness b/c overall a restrictive issue, and that is more c/w obstruction

Selective IgA deficiency

- Can have chronic/recurrent respiratory tract infections, eczema, high incidence of autoimmune dz - Higher risk for severe anaphylaxis to blood

GI disease in systemic sclerosis

- Can occur before the skin diagnosis is made - 80% of people get esophageal dysfunction: frequent reflux, dysphagia 2/2 dysmotility - can lead to Barrett's, aspiration - Also get dysmotility of stomach/bowels: ileus, pseudo-obstructions, bacterial overgrowth - GI bleed d/t GAVE (gastric antral venous ectasia) - Primary biliary cirrhosis can occur, usually with limited cutaneous dz.

Takotsubo (stress) cardiomyopathy

- Can present with anginal CP, ECG changes, and elevated troponin, even in the setting of normal coronaries Criteria for diagnosis: - ST segment elevation - Transient wall motion abnormalities of the apex and mid-ventricle - Absence of CAD - Absence of other causes of transient LV dysfunction (recent trauma, myocarditis) Prognosis is good - usually LV dysfunction resolves with BB, ACEi

Management of benign paroxysmal positional vertigo

- Can try Epley maneuver - successful >60% of the time - If unsuccessful, should go for vestibular rehabilitation - meds are generally ineffective for BPPV

Use of statins with liver disease

- Can use statins in NAFLD, no higher risk of adverse events than othe rpeople - Can use statin for ALT/AST up to three times the upper limit of normal.

Silicosis features

- Causes spectrum of lung dz - also causes immune dysfunction, leading to increased risk of TUBERCULOSIS and autoimmune diseases

Empiric UTI treatment

- Cefotaxime/Rocephin + Gentamicin is a good general choice - if there is concern for enterococcal UTI (recent surgery, no nitrites in the UA), these aren't adequate - need Amox or Ampicillin + Rocephin

Rheum diseases associated with diabetes

- Cheiroarthropathy (get flexion contractures of the fingers) - carpal tunnel - frozen shoulder

Testable etiologies of nephrogenic DI

- Chronic lithium - Sjogren syndrome

Non-asthmatic eosinophilic bronchitis

- Common cause of frequent cough - Consider if chronic cough w/o apparent cause (no asthma, GERD, smoking) - See airway eosinophilia in induced sputum sample (>3% eos) - Treat with inhaled corticosteroids

Microscopic colitis

- Commonly d/t lansoprazole, NSAIDs, sertraline, ranitidine - Over age 40, more common women - Sxs: watery diarrhea, relapsing/remitting, with abd pain and nausea Bowel mucosa appears normal on cscope Path: either lymphocytic (increased intraepithelial lymphocytes) or collagenous (subepithelial collagen band in the lamina propria) Treatment: stop the med. Secondary option: mesalamine, budesonide

Use of Ranexa

- Consider for patients with chronic STABLE angina despite BB, CCB, AND nitrate - contraindicated in long QT - Inhibits metabolism of Digoxin and Simvastatin (may need to decrease doses) - Requires renal dosing

AKI in a newborn

- Cr <1 is usually reflective of maternal - if >1.5, consistent with AKI in the neonate

Capgras Syndrome

- Delusional misidentification syndrome - Associated with R hemisphere lesions - focal lesion or Alzheimers can cause - Get delusions of imposters, believe that important/familiar people have been replaced by fraudulent doubles

Causes of Nephrotic syndrome with systemic presentation

- Diabetes - Amyloid and myeloma - SLE

Nephrotic syndrome with systemic presentation

- Diabetes - Amyloid and myeloma - SLE

Causes of hypocalcemia

- Diet - Inadequate sun exposure - GI malabsorption - low PTH (hx neck surgery) If hx/physical with no obvious etiology, should check PTH and Ca levels: - low/normal PTH with low Ca is inappropriate, and indicates hypoPTH problem - High PTH with low Ca is appropriate, and suggests vit D deficiency or kidney problem

Mechanism of ACEi/ARBs for kidney protection

- Dilate the efferent artery (after the glomerulus) - effectively decreases glomerular capillary pressure - decreases progression of diabetic and hypertensive nephropathy

Hodgkin Disease

- Disease of the young (average age 30) - Very curable - Generally presents with enlarged, painless lymph node Diagnosis: excisional biopsy. - Classic finding is Reed-Sternberg cell Staging: CTs, bone marrow biopsy, PET scan Treatment: ABVD = adriamycin, bleomycin, vinblastine, dacarbazine, PLUS radiation to disease sites - Risk of cardiac issues from doxorubicin - Risk of lung issues from bleomycin - Radiation to chest associated with increased risk of solid tumors in the future (lung, breast). Women should get mammograms starting 10 years after tx.

Hypoactive sexual desire disorder

- Distress due to lack of sexual thoughts - The most common female sexual disorder Treatment: sex therapy. No meds approved to treat this, including no hormones

Conditions associated with AML

- Downs - Diamond-Blackfan syndrome - Fanconi anemia - Bloom syndrome - Kostmann syndrome - PNH - neurofibromatosis

Drugs that cause skin sensitivity

- Doxycycline - fluoroquinolones - Lasix - Amiodarone - sulfa

Drug induced lupus erythematosus

- Drugs can induce auto-antibodies - Can be d/t TNF-alpha inhibitors (etanercept) - Most common drugs: procainamide, hydralazine, penicillamine - fever, rash, arthritis, blood count abnormalities - Dx with + ANA, anti-SSDNA antibody, and anti-histone antibodies (TNF alpha associated with anti-DSDNA)

Sjogren Syndrome features

- Dry eyes, dry mouth - can get vaginal dryness, parotid gland enlargement, fatigue, arthralgias Labs: +ANA +anti-Ro/SSA +anti-La/SSB + RF

Indications for AV replacement in AS

- EF <50% - exercise causing CP or hypotension - Mean gradient >60 - rapidly progressive stenosis

Management of hypothyroidism during pregnancy

- Early in pregnancy, need more Synthroid - increase dose by 30-50% - Goal TSH should be <2.5 - Should get TSH Q4 weeks during pregnancy

Causes of hypophosphatemia

- EtOH --> alcoholic ketosis, chronic malnutrition Hypophosphatemia can lead to rhabdo (if <1), cardiomyopathy, muscle weakness

Role of mixing studies

- Evaluate prolongation in aPTT - distinguishes presence of inhibitor vs clotting-factor deficiency - Full correction = factor deficiency - Incomplete correction = presence of inhibitor

Causes of Cushing Syndrome

- Exogenous steroids - ACTH scretion from pituitary adenoma (Cushing disease) - Adrenocortical adenoma

SLE demographics

- Females > males - most common in african americans - usually diagnosed ages 14-65 - Increased risk with OCPs and estrogen replacement

Loop of Henle functions

- First half reabsorbs water - Second half reabsorbs solutes Thin descending: water reabsorbed (driven by osmotic gradient set up later) Thin ascending: Na reabsorbed (diffuses passively) Thick ascending: - Na/K ATPase reabsorbs sodium, dumps K - Na/2Cl/K cotransporter reabsorbs all three - these set up gradient for water reabsorption in thin descending limb

Renal vein thrombosis in a neonate

- Flank mass - hematuria - thrombocytopenia Increased risk with perinatal asphyxia, shock, dehydration, sepsis, cyanotic CHD, maternal DM

Causes of fixed lung obstruction

- Foreign body - Scarring of the airway (tracheal stenosis) - Nasopharyngeal cancer

Assessing cardiac risk in women

- Framingham is suboptimal in younger women - most are classified as low risk - Reynolds risk score is sex-specific and includes family hx and hsCRP - better for women

Treatment of GH deficiency

- GH, by injection - treat until adult height (bone age >14 for girls, >16 for boys) Side effects to monitor: - SCFE - pseudotumor - carbohydrate intolerance - transient hypothyroidism - scoliosis

Causes of hypomagnesemia

- GI malabsorption - kidney losses (ATN, Bartter's, Gitelman's) - drugs - hungry bone syndrome - EtOH - hypercalcemia Low mg causes hypokalemia - cannot fix the K until you fix the Mg

Wilms-associated conditions

- GU anomalies (cryptorchidism, hypospadias) - sporadic aniridia WAGR syndrome Beckwith-Wiedemann (organomegaly, macroglossia, omphalocele) Denys-Drash (nephropathy, hemi-hermaphroditism)

Post-strep glomerulonephritis

- Get acute nephritic syndrome - edea, hypertesion, red cells in the urine - management is supportive - controlling blood pressure and volume status Unusually, can get post-infectious GN that leads to rapidly progressive GN progressing to CKD. would treat that with steroids, cyclophosphamide, plasmapheresis

Rhabdomyolysis as cause of ATN

- Get prerenal AKI which leads to transient ischemic injury - myoglobin causes direct toxicity, causing ATN Other lab findings: - hypocalcemia (decreased 1,25 vit D production d/t renal dysfunction) - hyperphosphatemia (d/t tissue breakdown, causes low Ca above)

Common variable immunodeficiency

- Get sinopulmonary infections, autoimmune diseases, malabsorption, and lymphoma - Have poor response to vaccines - onset 15-25 years old Diagnose with IgG, IgA, and IgM levels

Gout pearls to know

- Gout can cause fever - premenopausal women rarely get gout - older women can have a gout presentation c/w RA: polyarticular - be sure to check for crystals - gouty xrays: characteristic over-hanging edge erosion - RA and gout never coexist

Medullary collecting duct functions

- H+ ATPase acidifies the urine - Na is passively abosrbed - H2O reabsorbed, mediated by ADH

Labs in Klinefelter

- HIGH FSH/LH - small testes In contrast, a prolactinoma would cause LOW FSH/LH, and a non-functioning pituitary tumor would have LOW FSH/LH

Spirometry findings in emphysema

- HIGH TLC - disproportionately LOW DLCO

Cervical cancer risk factors

- HPV - early onset coitus - # of sex partners - smoking - hx other STDs - immune suppression

Causes of a "dry" bone marrow tap

- Hairy Cell Leukemia - Myelofibrosis

Secondary osteoarthritis

- Hemochromatosis causes secondary arthritis - Suspect if OA of MCP joints in the absence of trauma - Typically in MCP and wrist joints, bilaterally - Can also affect shoulders, knees, hips, ankles - Xray with HOOK-shaped osteophytes (different than normal osteophytes) If suspect, get a ferritin

Polycythemia vera features

- Hemoglobin >18.5 men, 16.5 women - Leukocytosis - Thrombocytosis - Hepatosplenomegaly - Erythromelalgia (burning on palms/soles) - Warm water pruritis Diagnose with JAK2 V617F analysis

Parathyroid management of calcium

- High iCa, PTH signaled to decrease - Low iCa, PTH increases PTH roles: - activates bone resorption - activates distal nephron resoprtion - stimulates kidney production of 1,25 vit D (which increases gut uptake of Ca)

Lupus in pregnancy

- Higher incidence of complications, especially in active disease, or if anti-dsDNA or APL antibody positive - if mother is SSA or SSB +, increased risk of neonatal heart block - Before pregnancy, should get baseline complement, antibodies, and 24 H urine protein. - manage flares during pregnancy with steroids

Opitz Syndrome

- Hypertelorism - high nasal bridge - cleft lip/palate - hypospadias - laryngotracheoesophageal cleft

Hyperaldosteronism diagnostic features

- Hypertension - Hypokalemia Diagnose with ratio of serum aldosterone to plasma renin activity (expect elevated aldosterone, suppressed renin)

Rheum diseases associated with malignancy

- Hypertrophic pulmonary osteoarthropathy (lung ca) - Amyloidosis - secondary gout - carcinomatous polyarthritis (looks like RA, look for breast ca or leukemia)

Secondary causes of dyslipidemia

- Hypothyroidism - DM - Obstructive liver disease - Nephrotic syndrome If difficulty controlling lipids, test for these. Note: do not increase Simvastatin to 80 - high risk of myopathy. If needing higher dose statin, switch to lipitor or crestor.

Diagnoses to r/o with new pseudogout

- Hypothyroidism (get TSH) - Hemochromatosis (get ferritin) - Hyperparathyroidism (get calcium)

Diagnosis of GH deficiency

- IGF-1 is suggestive - bone age will be >75% of normal (meaning not significantly delayed) - confirm with stim test: use exercise or L-dopa (or others) to stimulate GH release - expect levels >10

Concerning mammogram findings

- IRREGULAR microcalcifications - irregular borders (stellate lesions) - distorted architecture If mass seen on mammo is SOLID by U/S, refer for bx. If obviously a simple cyst, could do aspiration only should also biopsy any non-cystic mass, even if not seen on mammogram (which is only 75-80% sensitive)

Donohue Syndrome (aka Leprechaunism)

- IUGR - fasting hypoglycemia - post-prandial hyperglycemia (Profound insulin resistance) - usually die before age 1 - will have acanthosis

Treatment of lyme myocarditis

- IV Rocephin Can cause complete heart block. Generally reversible, usually don't need permanent pacer If just having asymptomatic first degree block, can do PO doxy as an outpatient, but any second or third degree requires IV ABX

Management of acute exacerbation of MS

- IV methylpred for 3-5 days. Oral steroids not adequate - If refractory, can do plasmapheresis

Other indications for GH treatment

- Idiopathic short stature: height is >2.25 SD below the mean, likely won't reach adult height, and have no other underlying condition that can be treated - CKD - Turner - Prader-Willi (contraindicated if very obese) - Small for gestational age (if not caught up by age 2) - Noonan

Multinodular goiter features

- Idiopathic, with solid and cystic thyroid nodules - should FNA to exclude cancer - Growth can compress the airway. Also get recurrent laryngeal n compression leading to hoarseness If impinging/compressing, should be taken out

Mgmt of periprocedural anticoagulation for a fib

- If CHADS 2 or less and no other risk factors (valve, hx stroke), do not need to bridge anticoagulation - just restart warfarin afterwards

Colon ca screening in patients with UC

- If disease extends beyond rectum, should have c-scope every 1-2 years beginning at 8-10 years after diagnosis

Management of acute lyme dz

- If erythema migrans rash, should treat with empiric Doxy. Lyme serologies can be negative in early, localized dz, so could get a false negative.

PFO closure with CVA

- If etiology of CVA is idiopathic, no data that closing PFO will help.

Prevention of Fe deficiency in infants

- If exclusively breast-fed, should get 1 mg/kg Fe daily after 4 mos old (premature infants 1-2 mos old) - if not breast fed, should get Fe-supplemented formula (not milk) until 1 year - avoid cow's milk during first year to prevent occult GI bleeding

Elective surgeries in COPD patients

- If having exacerbation, should delay surgery until returns to baseline lung fxn

When to correct in-toeing

- If not resolved by age 11 AND causing functional or cosmetic impairment

Warm hemolytic anemia

- IgG antibodies specific for Rh antigens bind the antigens at BODY temperature. - the IgG coated cells attract macrophages and monocytes, causing hemolysis and creating spherocytes - Will have + direct Coombs - treat with steroids

Guidelines for starting allopurinol

- In certain populations (koreans with CKD, Chinese or Thai of any renal fxn) should check HLA-B5801 - at risk for allopurinol hypersensitivity - Starting dose should be no higher than 100 mg/day (and 50 mg/day if CKD stage 4 or worse) - Titrate dose every 2-5 weeks based on UA level, goal <6

OTC meds causing hypertension

- In patients with CKD, both pseudoephedrine and NSAIDs can cause hypertension

Juvenile myoclonic epilepsy features

- Infrequent convulsive seizures (usually provoked by EtOH or sleep deprivation) - Also have myoclonic seizures (shakiness), worse in the morning - Familial - Can also get absence seizures

Vocal Cord Dysfunction features

- Inspiratory and expiratory wheezing, respiratory distress, and anxiety - Attacks are difficult to distinguish from asthma, but: sudden onset, abrupt termination, lack of response to asthma therapy, lack of hypoxemia, lack of hyperinflation in CXR Diagnose with laryngoscopy

Aspirin mechanism of action

- Irreversibly acetylates cyclooxygenase (cyclooxygenase is an enzyme in the platelet activation cascade) - Result is to decrease platelet function - Chronic ASA use at 40 mg daily or more suppresses 95% of thromboxane A2 (what is activated by cyclooxygenase)

Plavix mechanism of action

- Irreversibly inhibits ADP binding to platelet receptors - Results in decreased platelet aggregation

Definition of CKD

- Kidney damage >3 mos, with or without decreased GFR OR - GFR <60 with or without kidney damage Stages: I = normal GFR II = GFR 60-89 + persistent proteinuria III = GFR 30-59 IV = GFR 15-29 V = GFR <15 or ESRD

Three causes of abnormal tall stature

- Klinefelter - Marfan - homocystinuria compare/contrast: - marfan with UPWARD subluxation of the lens and normal IQ - homocystinuria with marfanoid habitus, DOWNWARD subluxation of the lens, and ID

ECG change with hypocalcemia

- LONG QT!

Types of systemic sclerosis

- Limited cutaneous: skin involvement of face/distal extremities only - CREST: subset of above, with calcinosis, Raynaud's, esophageal dysmotility, sclerodactyly, and telangiectasias - diffuse cutaneous: skin involvement proximal to distal forearms and knees - Systemic sclerosis sine scleroderma: visceral dz without skin involvement Those with diffuse cutaneous are at higher risk for ILD, serositis, renal dz.

GI manifestations of systemic scleroderma

- Limited only: watermelon stomach (telangiectasias, Fe deficiency anemia) - Diffuse only: wide-mouthed diverticula are pathognomonic for diffuse dz In both limited and diffuse: - dysmotility, especially in the esophagus and stomach - severe GERD, esophagitis, strictures, Barrett's - 15% get primary biliary cirrhosis (associated with + anti-mitochondrial antibody)

Lupus and heart disease

- Long standing SLE increases risk for premature atherosclerosis and MI - Should have low threshold to suspect ACS in patients with SLE even if younger than typical age. - >2 years after SLE diagnosis, deaths are usually d/t cardiovascular disease.

Cardiac signs of amyloidosis

- Low voltage on ECG - Increased ventricular wall thickness - systemic signs (heart failure, hepatomegaly, proteinuria, bruising)

Imaging of Cushing's disease

- MRI to find the adenoma - if MRI negative but still concerned, do bilateral inferior petrosal blood sampling (measuring ACTH) before and after CRH stimulation test

Primary Membranous Glomerulopathy

- Manifests as nephrotic syndrome - Generally occurs as the primary disease, but can also be 2/2 hep B/C, malaria, syphilis, SLE, DM, or RA Biopsy: characteristic diffuse glomerular membrane thickening without cellular infiltration. Also, coarse granular deposits of IgG and C3 EM: moderate podocyte foot process effacement (explains how protein leaks out)

Injuries that can lead to vasculature damage

- Medial clavicle - supracondylar humerus (tearing of brachial artery) - knee dislocation

Serotonin Syndrome

- Mental status changes - Autonomic dysfxn (sweating, dilated pupils, HTN, hyperthermia, increased bowel activity) - neuromuscular changes (hyperreflexia, myoclonus, muscle rigidity)

Pregnancy with ulcerative colitis

- Mesalamine is felt to be safe (not a lot of evidence) - should manage by continuing current med, use prednisone for flares. should't adjust things just d/t pregnancy, only in response to flare.

Causes of osmolar gap WITH anion gap

- Methanol - ethylene glycol

Causes of elevated osmolar gap

- Methanol - ethylene glycol - Ketoacidosis - Lactic acidosis - Chronic renal failure - Isopropyl alcohol - Acetone

Causes of hypermagnesemia

- Mg-containing laxatives - Mg infusion in preeclampsia - tumor lysis

Causes of Nephrotic syndrome with primary kidney presentation

- Minimal Change Disease - FSGS - Membranous nephropathy

Nephrotic syndrome with primary kidney presentation

- Minimal Change Disease - FSGS - Membranous nephropathy

Anti-U1-RNP

- Mixed connective tissue disorder - sometimes SLE - is SENSITIVE for MCTD (meaning if negative, rules it out)

Hypertension in black patients

- More likely to result in end-organ damage - Goal should be <130/80 if end organ damage, or <135/85 if primary prevention of end organ damage - If proteinuria, should use ACEi to slow progression of kidney dz.

Neuroblastoma

- Most common cancer of infancy Presentation: - Most in the abdomen. 40% the adrenal medulla, 30% non-adrenal nervous tissue. 20% in neural tissue in the chest or neck - classic presentation: nontender abdominal mass - usually metastatic at presentation, goes to lymph nodes, bone, bone marrow, liver, skin - can cause paraneoplastic syndrome: intractable secretory diarrhea and abdominal distension (VIP secretion) - 5% will have opsoclonus-myoclonus-ataxia syndrome (dancing eyes, dancing feet) Diagnosis: biopsy or bone marrow - often have elevated catecholamines at diagnosis, can look at urine catecholamines for follow up Prognosis: better if < 18 mos old. other prognostic factors mostly histology Treatment: surgery only (low risk) or surgery + chemo

Prognosis in invasive breast ca

- Most important: stage (determined by size and lymph node status) - Her2/neu: if +, increased likelihood of distant mets, and more aggressive ca - ER/PR: if +, a POSITIVE prognostic indicator

Sickle cell disease

- Mutation in the beta globulin. - when both betas affected, get HbS - Deoxygenated HbS stiffens the RBC membrane, and cells can't get through small vessels Clinical: - get tissue infarction d/t blockage of small vessels and chronic hemolysis - d/t splenic infarction, at risk from encapsulated organisms and Salmonella Indications for exchange transfusion: - priapism - cerebral sickling - aplastic crisis - acute chest

Jaundice

- NEVER normal w/in first 24 hours Physiologic jaundice: peaks at 3-4 days Jaundice beyond 10-14 days: review newborn screen, get feeding history, assess stool Breastfeeding jaundice: if difficulty with breastfeeding, not getting enough fluid/nutrient intake Breast milk jaundice: AFTER the first week, not d/t difficulty with breastfeeding

Management of febrile, non-hemolytic transfusion reaction

- NSAIDs for fever - Meperidine for chills

Use of Dronedarone for A fib

- Newest antiarrhythmic for A fib - Increases creatinine but doesn't decrease GFR - Cr will go up, but no affect on kidney function - Cannot use for NYHA IV, or for II-III with recent decompensation requiring admission. - Decreases hospitalizations and mortality

Diseases associated with Sjogren syndrome

- Non-hodgkin lymphoma - lymphocytic interstitial pneumonitis - RTA - peripheral neuropathy NOT Barrett esophagus/esophageal dysmotility

DIC (disseminated intravascular coagulation)

- Occurs in diseases that promote release of tissue factor (trauma, solid tumors, sepsis, OB issues, APML) - tissue factor activates factor VII, leads to initiation of coagulation cascade Diagnosis: - prolonged PT and PTT (would be normal in TTP) - low platelets (2/2 consumption) - fibrinogen decreased - D dimer increased - thrombin time increased - evidence of hemolysis (schistocytes) Tx: - FFP and platelets if bleeding is severe - cryo if fibrinogen is very low If chronic DIC, look for underlying solid tumor

Severe congenital neutropenia

- Often with ANC <200 - present in infancy with recurrent umbilical, mucosa, and skin infections - can be inherited - Kostmann syndrome is AR with 15-20% leukemia risk

Reasons to admit asthma exacerbation to the ICU

- PCO2 >42 - persistent FEV1 <40% predicted

Hip osteoarthritis

- Pain localized in the groin (vs bursitis that is lateral pain) - worse with activity, better with rest - pain can refer to the knee Exam: decreased ROM, crepitus standing xray will show joint space narrowing, osteophytes, subchondral sclerosis Treat conservatively first Note: obesity does not contribute to the development of hip OA (unlike knees)

Symptoms of AC joint degeneration

- Pain to palpation at the AC joint - Pain with shoulder adduction and abduction >120 degrees

MENIIa

- Pheochromocytoma - medullary carcinoma of thyroid - hyperparathyroidism

Subungual melanoma features

- Pigmentation extending to proximal nail fold, wider at the proximal end (indicating expanding lesion) - Form of acral lentiginous melanoma, originates under the nail

Treatment of FSGS

- Prednisone 1 mg/kg - better prognosis if responsive - control of hypertension with ACEi (first choice) or ARB - If unresponsive to prednisone, would progress to cyclophosphamide, cyclosporine, or cellcept

Common locations for bursitis

- Prepatellar (housemaid's knee) - olecranon (student's elbow) - trochanteric - Pes anserine (over the inferomedial aspect of the knee) - will have pain/swelling, 2 cm inferior and medial to the patella

Gonococcal septic joint features

- Presents with fever, migratory polyarthritis, tenosynovitis, and dermatitis (red papules, become pustular) - pregnancy and menstruation are risk factors for disseminated gonorrhea - joint fluid with only mild inflammation (10-20,000 WBCs) and culture is sterile (b/c requiers the special Thayer-Martin/chocolate agar medium). 65% of cases with bloody taps - if found to have gonococcal septic joint, should also treat the patient for chlamydia

Dermatomyositis

- Proximal muscle weakness - heliotrope rash - Gottron papules (pink/skin colored papules over DIP and PIP joints). Alternatively, Gottron sign (redness over joint spaces of the hands) - Erythema over malar area, including nasolabial fold - shawl sign - lacy rash in V over chest, shoulders, upper back - rash can be exacerbated by sun exposure

RA diagnosis

- RF + in 80-85% of patients, but not specific - anti-CCP 97% specific and is positive earlier. Also associated with development of erosive RA. - HLA-DR4 associated with aggressive RA Aggressive course likely with: - high RF titer - + anti-CCP - constitutional sxs - insidious onset - early xray evidence of erosions - extraarticular disease

Diagnostic features of ASD

- RV or parasternal impulse - Fixed split S2 - Right heart enlargement - RAD/RBBB - Systolic murmur: increased flow over the pulmonary valve - Diastolic murmur: increase flow through the tricuspid valve

Sotos Syndrome (aka cerebral gigantism)

- Rapid early growth with no evidence of an endocrine disorder - born big (>90%), then grow rapidly in the first year to >97th percentile - this continues until age 4-5, then return to normal - Will have big hands/feet and be "clumsy" at sports, coordination - sometimes have intellectual disability - will have NORMAL bone age, normal adult height, and normal GH level Distinctive fascies: long/narrow face, high forehead, small, pointed chin

Signs of Creutzfeld-Jakob dz

- Rapidly progressive dementia - Myoclonus - normal CSF - non-diagnostic imaging

Lymphangioleiomyomatosis features

- Rare cystic lung disease. Smooth muscle cells infiltrate the lung - occurs in women of childbearing age, or in people with tuberous sclerosis - Presents as dyspnea, CXR shows hyperinflation - On high-res CT, see diffuse, thin-walled cysts - Treatment: early studies suggest Sirolimus helps

Typhoid fever features

- Rash, rising fever without tachycardia, abdominal pain (distended, with splenomegaly), constipation --> diarrhea - 2/2 ingesting Salmonella Typhi or paratyphi. - Rash is salmon-colored, blanching, maculopapular over the trunk - Labs: mild pancytopenia, elevated bili and transaminases, hyponatremia - There are 2 vaccines available, neither 100% effective In contrast, malaria would not have rash or abdominal pain, and fever would be cyclic, not progressive

Neuroleptic Malignant Syndrome

- Reaction to neuroleptic antipsychotics - Muscle rigidity, hyperthermia, autonomic dysregulation Treatment: supportive - Benzos for agitation - IV fluids (commonly associated with dehydration) - cooling packs for hyperthermia - Manage BPwith nitroprusside if needed Concomitant use of Lithium with antipsychotics increases the risk of NMS - should stop the lithium as well

Diagnosis of H pylori with recent GI bleed

- Recent bleeding can make diagnosis of H pylori less accurate - in patient with bleeding peptic ulcer, negative histology is not adequate: should retest. - If patient has been on PPI for the bleeding, breath test and stool antigen are less accurate --> should then get serology

Stasis dermatitis features

- Red, warm skin - Around medial malleoli - Associated eczematous changes

Renin/angiotensin system

- Renin is released by the kidney in response to low blood pressure and low blood volume - Renin converts angiotensinogen --> angiotensin I - ACEI converts Angiotensin I --> angiotensin II (blocked by ACEi) Angiotensin II increases blood pressure by: - direct vasoconstriction - sympathetic nervous system activation - stimulation of aldosterone ARBs block angiotensin II receptors

NSAIDs mechanism of action

- Reversibly bind cyclooxygenase (ASA IRreversibly binds) - If given with ASA, makes ASA less effective

Sideroblastic anemia

- Ringed sideroblasts in the bone marrow (sideroblast = red cell precursors with Fe-laden mitochondria surrounding the nucleus) - Periphery will have both normal red cells and hypochromic, microcytic cells - D/t congenital form or acquired (lead poisoning, isoniazid)

Treatment of cervicitis

- Rocephin, 250 mg IM x 1 (treating gonorrhea) AND - azithro, 1 gram PO once (treating chlamydia)

Associations of small cell lung cancer

- SIADH - ectopic ACTH production - Eaton-Lambert

SSA (Ro)

- SLE - Sjogren - can be transferred from mother to baby and cause neonatal heart block

SSB (La)

- SLE - Sjogren - can be transferred from mother to baby and cause neonatal heart block

Management of NASH

- Serial monitoring of LFTs - Weight loss - Exercise - Good control of glucose, lipids, blood pressure

lupus-like syndrome, tips

- Serositis is most common presentation - rash is rare - + anti-histone Ab - fever is common - CNS and renal involvement are rare

Planning for pregnancy in patients with CKD

- Should get creatinine prior to pregnancy, need to know degree of baseline kidney injury - CKD increases risk of eclampsia and preeclampsia - for CKD stage 3 or greater, increases risk of IUGR, preterm delivery, and perinatal death.

Diagnosis of SIADH

- Should have hypotonic normal volume patient (low serum Osm, no evidence of volume up/down) - Compare serum Osm to urine Osm: Should have very dilute urine to be getting rid of water that is causing low Na. However, high ADH prevents this, so have inappropriately concentrated urine.

Diagnosis of malignant pleural effusion

- Should tap effusion for cytology - If initial tap is negative for malignancy, should repeat: 65% positive on first tap, 27% on the second, 5% on the third) Malignant effusion at diagnosis = stage IV, so important to determine this

Target cells

- Significant liver disease - thalassemia - hemoglobinopathies

Diagnosis of bullous pemphigoid

- Skin bx with direct immunofluorescence

Risk factors for rheumatoid arthritis

- Smoking (duration and intensity of smoking correlate with level of risk) - Genetic factors

Features of benign cervical lymphadenopathy

- Soft - tender to touch - freely movable - associated with fever

Howell-Jolly bodies

- Splenectomy or functional asplenia result from fragmentation of the nucelus

Lentigo maligna features

- Starts as uniformly pigmented, light brown patch on face - enlarges over time, becomes more varied in color - If becoming atypical and worrisome for melanoma, should do shave bx (exception to normal melanoma removal). They are typically minimally invasive, and bunch bx can miss the atypical cells, which are not uniformly distributed

Drugs that interact with calcineurin inhibitors (cyclosporine/tacro)

- Statins - CCBs - antifungals - antimicrobial - antiseizure

ovarian cancer treatment

- Surgery for stages I, II, III --> remove all visible tumor, do TAH-BSO, goal to leave <1cm disease - systemic chemo for stages II, III (often with additional intra-peritoneal chemo) Stage IV therapy - chemo, sometimes debulking Prognosis stage I - 90% 5 year survival (only 23% found at this stage) stage II - 65% stage III - 40%

Management of hemochromatosis

- Suspect with C282Y mutation - At diagnosis, should have liver bx to look for cirrhosis (increases risk of HCC)

Insulinoma diagnosis

- Suspect with fasting hypoglycemia and inappropriately elevated insulin level - Diagnose: fasting BG <45, hypoglycemic sympoms, and inappropriate elevated insulin (>5-6) - Image with CT. If nothing seen, do EUS - 90% detection rate

Giant cell arteritis features

- Suspect with fever and fatigue - Have polymyalgia rheumatica symptoms (hip and shoulder gridle stiffness and pain) - May not have temporal arteritis features - Should get CT or MR angio to look at the great vessels

Mixed Connective Tissue Disease features

- Sxs/signs of many diseases, esp SLE, polymyositis, and RA - Usually ultimately develop symptoms of limited scleroderma - increased incidence of severe interstitial lung dz - respond well to steroids, prognosis is good - **Associated with anti-U1-RNP**

Posterior cerebral circulation problems

- TIAs of the posterior circulation present with persistent dizziness and diplopia (also vision loss) - if concerned, should get posterior carotid ultrasound

Peritoneal dialysis-associated peritonitis

- Tends to be a single organism, and tends to be skin flora - Treat with ABX into the peritoneal cavity (not IV ABX) - Should culture peritoneal sentiment after centrifuging 50 mL for 15 minutes, and then resuspending the sediment in saline --> highest likelihood of + culture

Features of cholesterol atheroembolic disease

- distal ischemia (blue toes) - renal injury - low complement - fever - eosinophilia

Ways to prevent kidney stone recurrence

- Thiazide diuretic will decrease calcium excretion (if demonstrated to have high urine Ca) - drink more fluids - avoid salt - Increasing Calcium intake paradoxically decreases risk of forming calcium-containing stones (thus, should not restrict Ca this will make it worse)

Management of ARDS

- Tidal volume should be 4-6 mL/kg of IDEAL body weight Will have hypoxemia requiring O2 and PEEP.

Drugs that increase kidney stones

- Topamax - Zonisamide Should avoid in patients with hx of calcium-containing kidney stones.

Treatment of tinea versicolor

- Topical antifungal (like ketoconazole shampoo) - Usually don't need oral therapy 2/2 Malassezia furfur, see spaghetti and meatballs on scrapings

Management of aplastic anemia

- Treat with allogenic hematopoietic stem cell xplant. - If patient is <40 with severe aplastic anemia (based on below) and HLA-identical sibling, should have allo xplant - If do not have match or are >40 yrs, should get antithymocyte globulin + cyclosporine Classified based on severity of neutropenia: - Moderate: ANC 500-1000 - Severe: ANC 200-500, also plt <20, retic <0.2% - Very severe: ANC <200

Side effects of beta agonists

- Tremor - hypokalemia - hyperglycemia

Causes of intrathoracic obstruction

- Tumor - Bronchial stenosis

Contraindications to kidney biopsy

- Uncontrolled hypertension (should be <160/95) - Coagulopathy - Low platelets - Hydronephrosis - Atrophic kidney - Acute pyelo

Coarctation features

- Upper extremity hypertension - Diminished/delayed femoral pulses - Lower extremity claudication

Management of blood pressure in intracerebral hemorrhage

- Use IV infusion medication, check vitals Q5 minutes. - If SBP starts >180, target 160/90. If evidence of increased ICP, target 140 systolic.

CPPD clinical features/diagnosis

- Usually affects the knee - can also affect wrists, MCP joints, shoulders, elbows, ankles Board exam question: patient with wrist arthritis: think CPPD and look for underlying hemochromatosis, hyperparathyroidism, and hypothyroidism Diagnosis: - intracellular crystals are RHOMBOID, POSITIVELY birefringent (light blue)

Minimal change glomerulopathy features

- Usually idiopathic - Can be associated with lithium use (also NSAIDs and rifampin), with malignancy (Hodgkin's, carcinomas), with infections (mono) - Presents as nephrotic syndrome - Renal bx with diffuse fusion and effacement of the podocytes

Hyperlipidemia of nephrotic syndrome

- Usually with selective LDL elevation - increased atherogenesis risk - does respond to statins - somewhat increased risk of myositis when treated with statin

Causes of extrathoracic obstruction

- VCD - Goiter - Enlarged lymph nodes - Tumor

Rheum diseases that can cause pulmonary hemorrhage

- Wegener's - Microscopic polyangitis - Goodpasture's - SLE

Definitions of failure to thrive growth

- Weight <3rd% - Height <5th% - weight 20% or more below ideal weight for length - weight gain <20g/day from 0-3 mos - weight gain <15 g/day from 3-6 mos - downward crossing of >2 major percentiles

Hemophilia A (factor VIII)

- X-linked recessive - prolonged PTT - presents with easy bruising, muscle/joint hemorrhages, bleeding after surgery. will NOT have bleeding from minor cuts - patients can have symptoms of a bleed prior to objective evidence. treating early prevents joint damage long-term Severity dependent on amt of factor VIII circulating Tx: - DDAVP if mild (more factor VIII will be released by the endothelium). use for acute hemorrhage or ppx before tooth extraction - if severe, use recombinant factor VIII for acute bleed - some people recommend prophylactic factor VIII to keep levels >1%

Swyer Syndrome

- XY pure gonadal dysgenesis - no Leydig cells, so no testosterone produced - female phenotype at birth. At puberty no menses or breast development - most have a mutated SRY gene - gonads are undifferentiated streaks

Membranoproliferative Glomerulonephritis

- a LOW complement, primary kidney, nephritic syndrome - can be isolated kidney dz or associated with systemic dz - biopsy will have cellular proliferation and "tram tracking" of the basement membrane (due to deposition of immune complexes in the glomerulus) - Complement will be low FOREVER - Frequently causes renal failure (50% of the time)

Post-infectious glomerulonephritis

- a LOW complement, primary kidney, nephritic syndrome - usually due to strep - occurs 1-6 weeks after infection (vs IgA, which is concurrent - IgA will also have normal complement) - see immune deposits (IgM, IgG, complement) on biopsy - have + ASO, + anti-DNase B, + antihyaluronidase - complement will be low for 6-8 weeks

Alport Syndrome

- a NORMAL complement, primary kidney, nephritic syndrome - X linked, with chronic glomerulonephritis, sensorineural deafness, and eye problems - renal bx with a split lamina densa on EM

IgA Nephropathy

- a NORMAL complement, primary kidney, nephritic syndrome - classically occurs coincident with respiratory illness - biopsy has deposition of IgA and C3, but the complement level is NORMAL - prognosis based on blood pressure and creatinine. 50% of people have progressive disease

Anti-GBM disease

- a NORMAL complement, systemic, nephritic syndrome - If pulmonary hemorrhage is present (70% of the time), called Goodpasture's - Goodpasture's more likely in young men, idiopathic more likely in older women - Presents with active urinary sediment +/- pulmonary hemorrhage - have antibodies to the glomerular basement membrane - renal bx with anti-GBM IgG in a linear fashion along the GBM - can measure + anti-GBM antibodies in the serum - treat with plasmapheresis, steroids, cyclophosphamide

Diagnosis of pancreatic ca

- a focal cutoff sign of bile ducts in the pancreas = pancreatic ca until disproven - Should then do EUS for diagnosis - can find masses not seen on CT

Facts about aneurysms in ADPKD

- don't screen everyone - screen with fhx, symptoms, high risk occupation - higher risk of aneurysm bleeding if: large aneurysm (>7 mm), HTN, age <50

recognizing Nevus sebaceous

- a hamartoma, usually on the scalp - can get larger/more raised/verrucous during puberty - do not regress with age Can be associated with underlying syndrome associated with seizures and intellectual disability - small % develop tumors, usually benign. 2% of the time will be basal cell

Features of fetal alcohol syndrome

- abnormal fascies - growth deficiency - CNS problems (ADHD, hypotonia, decreased impulse control, poor memory, speech/language delay, ID, sleep problems) Can also have heart defects (esp ASD/VSD)

Common causes of PT prolongation

- acquired deficiency of factor VII - vitamin K deficiency - liver disease - DIC - warfarin

Paroxysmal Nocturnal Hemoglobinuria

- acquired stem cell disorder. Lose membrane-bound protein, makes cells more susceptible to complement-mediated lysis Clinical: variable. can have hemolysis, leading to iron deficiency, but can also get thrombosis Diagnosis: - Flow cytometry: CD55, CD59 Treat - steroids, eculizumab

Advise for lithium during pregnancy

- actual risk of birth defect is low - should use risk/benefit analysis - the lower the dose the safer - excreted in the breast milk - should stop 24-48 hours before delivery and restart afterwards

Types of transfusion reactions

- acute hemolytic - delayed hemolytic - febrile - post-transfusion purpura - transfusional hemosiderosis - TRALI - allergic - hypotensive

Benign paroxysmal vertigo presentation

- acute onset vertigo or gait imbalance - managed as a migraine variant - may recur, and ultimately often becomes more like a typical migraine - will last only a few hours (vs acute cerebellar ataxia, vestibular neuritis which will last longer) - vestibular neuritis usually more in teenagers

Guttate psoriasis

- acute presentation of small psoriatic papules, often on trunk and proximal extremities - usually age 30 or younger with recent hx of URI with GAS (2-3 weeks prior)

Metatarsus adductus

- adduction or medial deviation of the forefoot - lateral aspect of the foot looks convex - if foot can be flexed back into a neutral position with manual pressure, should recommend stretching - surgery only if severe, doesn't improve at age 4-6

Chlamydia in a neonate

- afebrile pneumonia - first few weeks after birth - tachypnea - staccato cough! CXR with hyperinflation, b/l symmetric interstitial infiltrates Treatment: Erythromycin (despite increased risk of pyloric stenosis)

Prostate cancer risk factors

- age - race (african american >caucasian > asian) - family hx - high fat diet - high testosterone there is NO association of BPH with prostate cancer

Indications for screening colonoscopy

- age 50-75 - if 1st degree relative was diagnosed after age 60, no indication to start before 50 - in FAP carriers or family members, start at 20-25 - in colon ca s/p resection, screen 1 year later

Unfavorable ALL features

- age >30 - WBC >30K - Mature B or T cells - persistent minimal residual disease after remission - t(9;22) translocation (the philadelphia chromosome - good in CML, bad in ALL)

Unfavorable AML characteristics

- age >60 - poor performance status - WBC >100K - prior bone marrow disease - FLT3 mutation

Transient Erythroblastopenia of Childhood

- ages 1-3 - get transient anemia that isn't d/t parvovirus - lasts 1-2 mos, not associated with future heme issues - MCV will be normal (contrast to Diamond-blackfan anemia, MCV increased) - treat: xfusion if symptomatic anemia, otherwise will improve

Clinical features of Wilms tumor

- ages 2-4 - presents with abdominal mass, hematuria, and hypertension Contrast to neuroblastoma - median age 19 mos - abdominal mass and hypertension but NO hematuria

Diagnosis of microalbuminuria

- albumin-creatinine ratio of 30-300 - requires elevated ratio on 2/3 random samples over 6 months If diagnosed, use ACEi or ARB to delay progression

Work up of dysphagia

- always work it up, even if young/unimpressive story

HIV immunizations

- annual flu - PCV 13 AND PPSV 23 (13 first, 23 8 weeks later) - hep A series (if hep C infected) - Tetanus per regular guidelines

Lupus labs

- anti-dsDNA and low complement levels is associated with increased disease activity - anti-histone CAN be seen in non-drug induced lupus - anti-U1RNP suggests BETTER prognosis if positive

HIT

- antibody to heparin-platelet factor complex - the antibody activates platelets and leads to thrombosis (arterial and/or venous) - w/in 5-10 days of heparin exposure (or shorter if prior exposure) - highest likelihood of clot AFTER platelet count rises, suspect if clot after hospitalization Dx: clinical. serotonin release assay is specific but not sensitive Tx:stop all heparin (including lovenox). b/c antibody complex is still circulating, then need direct thrombin inhibitor (argatroban, lepirudin) until platelets have recovered. Ultimately need warfarin for at least 3 mos (if argatroban/warfarin overlap, INR should be >4).

SLE treatment

- antimalarials are the mainstay (Plaquenil) Also: steroids, Cellcept, Azathioprine, Cyclophosphamide)

Lenalidomide (Revlimid)

- antineoplastic agent, mechanism of action not completely understood - treats multiple myeloma and 5q-MDS (can cause birth defects, like thalidomide)

Medical management of NSTEMI (if not cath candidate):

- antiplatelet agents (aspirin and Plavix) - Beta blocker (if contraindicated, Diltiazem is second line) - antithrombin therapy (heparin or Lovenox) - High dose statin

Growth curve in endocrine disease

- arrest of height growth with normal weight growth - differential: hypothyroidism, growth hormone deficiency, Turner

Recognizing serum sickness reaction to amoxicillin

- arthralgias, lymphadenopathy, urticarial rash. - fever is low grade if any In contrast, Mono with exposure to amoxicillin will have: - maculopapular rash! NOT urticarial

MGUS

- associated with previous exposure to pesticides (MM as well) Criterion: - plasmacyotis in the bone marrow is <10% - no bony lesions - M component is <3 g/dL No increased risk of renal failure, immune issues, anemia Risk of progression to myeloma higher if: - M component is >1.5 g/dL - non-IgG subtype - abnormal serum free light chain ratio No treatment for MGUS itself - monitor with Q6 mos labs. If stable for 13 years, then go to annually

Absolute indications for T&A

- asymmetry of the tonsils (worry about malignancy) - extreme airway obstruction - interference with swallowing - uncontrollable hemorrhage from tonsillar blood vessels

Age-related macular degeneration features

- asymptomatic early on - Get distortion of vision and central vision loss - With advanced sxs, experience visual hallucinations (Charles Bonnet syndrome) - On exam, see drusen (amorphous deposits behind the retina)

Miller-Fisher variant of GBS

- ataxia - ophthalmoplegia - areflexia

Bullous pemphigoid

- autoimmune - older people - treat with prednisone Can persist months to years (if so, add azathioprine, cellcept)

ANA features

- autoimmune antibodies (includes many: dsDNA, SSA, Sm, etc.) - can be done with IF or ELISA - if + ANA with suspicion of a disease, should then order the more specific antibody

Testable features of protein C deficiency

- autosomal dominant inheritance - can be acquired with DIC, severe liver disease, or nephrotic syndrome - get thrombosis of lower extremity deep veins, iliofemoral, or mesenteric veins - can have deficient protein C levels, or normal levels of a biologically dysfunctional protein (normal levels DOES NOT rule this out)

Familial Mediterranean fever

- autosomal recessive - acute, self-limited episodes of fever with abdominal/chest/joint pain - 2/2 serosal inflammation - Get erysipelas-like rash over distal lower extremities - Treat with colchicine

Familial Mediterranean Fever

- autosomal recessive - presents before age 10 - have fevers that last several hours to 5 days (shorter than PFAPA) - fever in predictable cycles (for 3-5 days every month) - severe abd pain with the fever - can get erysipelas-like rash, pleuritis, pericarditis, scrotal swelling Treatment: daily colchicine If not treated, can develop amyloidosis

antidepressants in long QT syndrome

- avoid TCAs, which can affect cardiac conduction

children with a connexin gene mutation have:

- b/l sensorineural hearing loss - often associated with learning disability and low reading level

Management of newborn with varicella exposure

- baby with 25% risk of fatal infection - should give IM varicella immune globulin w/in 96 hours after exposure - if baby 12 mos or older, would use the vaccine instead

Diffuse esophageal spasm

- barium swallow with corkscrew pattern - tx with CCBs or anti-spasmotics - dysphagia for solids and liquids, but especially COLD liquids

Hypertension effects on pregnancy

- before 20th week: increased risk of miscarriage - after 20th week: IUGR, placental insufficiency, placental abruption or previa

Gassiness with cereal

- before 4 mos old, can't digest appropriately, so get bloated. - AAP says breast milk only until 6 mos. Developmentally, though, could handle solids at 4 mos. - if gassy/bloated with cereal before 4 mos, likely d/t incomplete starch digestion

Enchondroma

- benign lesion of hyaline cartilage - usually in the hands - a frequent distractor on the exam

Juvenile nasopharyngeal angiofibroma

- benign tumor, often causes nasal obstruction - important cause of epistaxis in prepubertal and adolescent males - can be highly vascular and cause severe epistaxis - get CT or MRI to image

Lobular carcinoma in situ

- benign, curable with resection, but increase risk of breast ca 10x - bilateral 30% of the time - is a marker of breast ca risk, but doesn't itself become invasive cancer (either breast could get the ca) Treatment: - is benign, appropriate to observe only - some patients will want b/l mastectomy to prevent future risk - tamoxifen can decrease risk of invasive breast ca in patients with LCIS, but with associated risks (blood clots, endometrial ca)

Ductal carcinoma in situ

- benign, curable with resection, but increase risk of breast ca 10x - more common than LCIS - mammogram will show calcifications that are clustered and rod-shaped/angulated - grading system - 1%/year risk of evolving into invasive breast ca (as opposed to LCIS which doesn't itself evolve) Treatment: - surgical excision (contrast to LCIS) with either local excision (preferred) or mastectomy - can conserve the breast if: negative margins, cosmetically acceptable result - radiation after excision decreases in-breast recurrence by 50% but isn't associated with survival benefit

Treatment of Graves

- beta blockers for sxs - Decrease thyroid hormone production with: 1. radioactive iodine - 50% chance of relapse. usually for children >10 2. Surgery - risk of post-op hypoPTH and recurrent laryngeal n damage 3. medicine - use methimazone, PTU only if not tolerated d/t risk of hepatotoxicity and death with PTU

Beckwith-Wiedemann diagnosis

- big on growth curve - hemihypertrophy - ear creases and pits - neonatal hypoglycemia - embryonal tumors (Wilms, neuroblastoma, hepatoblastoma - should monitor AFP and abd U/S)

Autosomal recessive polycystic kidney disease

- bilateral renal enlargement and cysts - UNIVERSAL liver fibrosis, over time get biliary tree dilation (Caroli disease) - get oligohydramnios and potter fascies - often with palpable flank mass, HTN, recurrent UTIs - rule out AD with normal renal U/S of both parents

Imatinib (Gleevec)

- binds tyrosine kinase, prevents downstream signaling of cell proliferation - treats CML (and GIST tumors)

Etiologies of red urine

- blood - myoglobin - porphyrins - beets - blackberries - rifampin

Carney complex

- blue nevi - cardiac and skin myxomas - sexual precocity in boys - can get primary pigmented nodular adrenocortical disease - small, black nodules on the adrenals, with atrophy in between - manifests as Cushing syndrome

Rickets

- bony malformation d/t abnormalities of calcium/phosphorous balance - Xray with growth plate changes: irregularity of calcification, cupping of metaphysics, fraying/widening of growth plate, diffuse osteomalacia, sometimes nodules on the ribs (Rachitic rosary) Variety of etiologies: - Vitamin D deficiency (dark skinned patients, exclusively breast fed for 6 mos, limited sunlight exposure) - familial hypophosphatemic rickets (will have NORMAL PTH!) - deficiency of Vitamin D processing enzymes

Autosomal dominant pedigree

- both sexes equally affected - both sexes can transmit - every affected child has a parent with the disorder

Risk factors for breast ca

- breast bx with atypical ductal hyperplasia (4x increased risk) - DCIS or LCIS (10x increased risk) - early menarche/late menopause - late first pregnancy/no pregnancies - obesity - moderate to heavy EtOH - mantle field radiation - first degree relative (3x increased risk)

Recognizing Fanconi anemia

- café au lait spots - short stature - abnormal thumbs and radii - abnormal head/eyes/ears and kidneys - AUTOSOMAL RECESSIVE - get bone marrow failure: elevated MCV, cytopenias

Ewing Sarcoma

- can arise in bone or soft tissue - neural crest origin - usually have t(11;22) translocation (or t(21;22) ) - more common in Caucasians Presentation: pain ans swelling. More likely than osteosarcoma to have systemic symptoms (fever, weight loss) - usually involves flat bones (ribs, pelvis) or DIAPHYSES of long bones - xray with ONION-SKINNING (periosteal reaction)

Presentation of CHF in infants

- can be similar to respiratory virus - will have tachypnea - look for murmur or predisposing factors (trisomy 21) to have higher suspicion

Problems with Valproate

- can cause hyperammonemic encephalopathy even without transaminitis (could present with somnolence). may need to decrease dose or switch meds Can also cause neutropenia and thrombocytopenia

Facts about sickle cell in pregnancy

- can do prenatal diagnosis via amniocentesis or CVS - prenatal folate supplementation doesn't help a fetus with sickle cell disease - mothers with sickle cell trait don't have increased risk of prematurity - risk for each pregnancy is 25%

Management of mastoiditis

- can get associated sigmoid sinus thrombosis - need to cover for S pyogenes, S pneumo, and S aureus. If having recurrent otitis and recent ABX use, also should be concerned about Pseudomonas - Treat with Ceftazidime and Vancomycin

Prenatal counseling about congenital adrenal hyperplasia

- can get prenatal diagnosis to prevent virilization of a female fetus - if prenatally diagnosed, would treat promptly at birth - degree of virilization varies, even among siblings - can do maternal decadron administration for affected female fetuses to prevent virilization

Sequelae of PKU

- can have long term issues with growth, neurocognitive outcomes, and bone health despite adherence to diet. - in pregnancy, high risk of congenital issues (cardiac, microcephaly, cognitive issues). Improved with get phenylalanine levels low early in pregnancy, but still a concern

Management of persistent effusion after AOM

- can last up to 3 mos - if lasting longer, should have hearing assessment -->would refer to ENT at that point - before the 3 month mark, should request preferential seating in the classroom

Adrenal hemorrhage

- can occur with difficult labor/perinatal asphyxia. - can present as SCROTAL hematoma, or can be seen later as adrenal calcifications

Hypertension in women of child-bearing age

- cannot use: ACEi, ARB, aldosterone antagonist Ok to use: - Labetalol (category C, does not compromise uteroplacental blood flow). - Methyldopa (category B, but is sedating and not as effective as a single agent)

Late effects of chemotherapy

- cardiovascular disease is #2 behind second or recurrent malignancy for causes of morbidity/mortality - can be a result of chemo/radiation, but esp doxorubicin Infertility may be a concern with cyclophosphamide Short stature/endocrine dysfxn can occur after cranial/spinal/total body radiation

Vasculitis causes of glomerulonephritis

- cause NORMAL complement, systemic, nephritic syndrome - diseases include: Wegener's, microscopic polyangitis, polyarteritis nodosa, Churg-Strauss, HSP

Post-strep GN

- cause of gross hematuria (also some proteinuria but not nephrotic range, also HTN) - can be S pyogenes, but also other bacteria, viruses, parasites - ABX do NOT prevent acute GN, but DO prevent rheumatic fever - onset of GN is 1-2 weeks post-illness, and acute in onset Labs: - LOW complement C3 (should normalize in 6-12 weeks) - single best antibody titer for recent S pyogenes: DNase B

Missed question: cisplatin

- causes N/V - causes renal loss of K and Mg that ultimately leads to hypocalcemia

Thyroglossal duct cyst

- centrally located mass in the neck that MOVES with swallowing - can have recurrent infections - if so, remove the cyst. BUT check thyroid scan first - can contain thryoid tissue, and then removal will result in hypothyroidism

Recommendations on hydration during exercise

- children should be provided with opportunity to drink every 20 minutes during activity - if exercise is <1 hour, ok for water-only hydration (vs gatorade)

Teratogenic effects of AEDs

- cleft lip/palate - neural tube defects - cardiac anomalies

Treacher-Collins syndrome

- cleft palate - malar hypoplasia - micrognathia - lower eyelid missing - hearing loss - ear anomalies

Diagnosis/treatment of bursitis

- clinical dx, but if inflamed or patient is ill, must r/o infectious bursitis - aspirate fluid for gram stain/culture - treat with rest, can do hydrocortisone injection

Causes of metabolic alkalosis

- diuretics - vomiting/gastric suction Note, it is not the loss of H+ in the stomach that causes it. Get volume contracted d/t volume loss 2/2 above, and the Na/H and Na/K pumps in the kidneys pull back in sodium to get more water, at the expense of H and K. Because urine Na is pulled back in, Cl follows - get very low (<10) urine chloride. If Cl >10, think of Cushing syndrome, primary hyperaldosteronism, or increased bicarb intake.

AML (Acute Myelogenous Leukemia), symptoms/diagnosis

- clonal disorder of early myeloid cells (cells that would become granulocytes, monocytes, erythrocytes, and megakaryocytes) Clinically: - get symptoms of cytopenia. - can have leukostasis 2/2 high blood viscosity with blasts, and get end-organ ischemia. This is an emergency, requires leukapheresis. Diagnosis: - Requires BMBx if blasts are seen in the periphery - Diagnosis = >20% blasts in the marrow. - Blasts in AML and ALL look the same, need labs to tell the difference - if Auer rods are seen in the peripheral blasts, can diagnosis AML

ALL (acute lymphoblastic leukemia) background/features

- clonal disorder of lymphocytic precursors (B or T lineage) - usually in children, but 20% in older adults Three types: pre-B cell (~75%), pre-T cell (~20%), and mature B cell (Burkitt, ~5%) Present with cytopenia sxs but also splenomegaly/lymphadenopathy (have blast deposition in the periphery). - can get CNS, testicular, retinal disease labs: can have leukopenia or leukocytosis with WBC >100K

SLE CNS manifestations

- cognitive/behavioral changes are most common - psychosis - aseptic meningitis - seizures - chorea - strokes If having cerebritis, can see elevated protein or WBCs (lymphocytic) in the CSF

CHARGE

- coloboma - congenital heart defects - choanal atresia - growth and intellectual disability - GU anomalies - ear anomalies or hearing loss

Otitis media with effusion

- common after acute otitis, should resolve within THREE months - should monitor for 3 mos, if not resolved then should start checking hearing - refer to ENT for hearing deficits, ear pain or balance issues

Testable features of hairy cell leukemia

- commonly get neutropenia or pancytopenia - affects immune system - get a cutaneous vasculitis, hard to distinguish from polyarteritis

Diamond-Blackfan anemia

- congenital red cell aplasia - get progressive macrocytic anemia, decreased red cell precursors - associated with congenital anomalies (esp cardiac, renal) Diagnosis: increased hemoglobin F, elevated erythrocyte adenosine deaminase activity

hemoglobin FAS pattern

- consistent with sickle cell TRAIT - means expressing the most F, then A, then S (all newborns will have the most F) In contrast, sickle cell Dz would have FSA, FS, or FSC

Detecting esophageal atresia in a newborn

- copious amniotic fluid (couldn't swallow it in utero) - spitting/drooling/choking - respiratory distress with feeding Diagnose by attempting to pass an OG tube.

Heart manifestations of systemic scleroderma

- cor pulmonale - restrictive pericardial disease - conduction defects - + stress test w/o CAD, usually 2/2 vasospasm - diastolic dysfunction

Mobius Syndrome

- cranial nerve abnormalities - hypoplastic tongue or digits - limb deficiency - poland anomaly (absent pec muscles) - ipsilateral breast hypoplasia

Apert Syndrome

- craniosynostosis - hypertelorism - proptosis - maxillary hypoplasia - narrow palate (cathedral ceiling) - broad tumbs (fusion of 2, 3, or 4 fingers)

Crouzon syndrome

- craniosynostosis - hypertelorism - strabismus - maxillary hypoplasia - proptosis

Sizing blood pressure cuffs

- cuff bladder should be 80% the length and 40% the circumference of the upper arm at the midpoint

Murmurs after birth that need workup

- cyanosis - poor perfusion - louder than grade II - tachypnea - persist after 2nd day of life

Hereditary angioedema

- d/t decrease in C1-inhibitor - get recurrent, non-pitting edema lasting 1-2 days, often over face/lips - does not respond to epi - do NOT use ACEi in these patients, can increase the risk of angioedema development

Cerebral salt wasting

- d/t hypersecretion of atrial natrieuretic peptide - causes hyponatremia - in patients with brain tumors, head injury, hydrocephalus, CVA Labs (in contrast to SIADH) - high urine output, hypovolemic, low sodium, high urine Na, low vasopressin SIADH: low urine output, euvolemic, low sodium, slightly increased urine Na, high vasopressin

Anemia of Chronic Disease

- d/t impaired utilization of iron despite normal Fe levels - occurs with: chronic rheum, infectious, or neoplastic diseases Labs: - Normochromic, normocytic - LOW retic - LOW serum Fe/TIBC - HIGH or normal ferritin

Morton neuroma

- d/t inflammation of small interdigital nerves - Often in overuse syndromes (running, tight shoes, heels) - burning pain on plantar surface of foot between 3rd/4th toes

NSAIDs in RA

- decrease inflammation and joint swelling - DO NOT alter course of disease

PFTs in restrictive lung dz

- decreased TLC, functional reserve capacity, and residual volume - if DLCO is DECREASED, think parenchymal problem (silicosis, drug-induced pneumonitis, etc) - if DLCO is NORMAL, think chest wall mobility issue (e.g. ankylosing spondylitis, scoliosis, etc)

Manifestations of hypokalemia

- decreased reflexes - rhabdo - U waves

Renal failure pearls

- dehydrated high school football player: rhabdo - prosthetic heart valve: endocarditis with post-infectious GN - CF: aminoglycoside toxicity - post-transplant: cyclosporin nephrotoxicity - Lymphoma: uric acid nephropathy

Recognizing mucopolysaccharidosis (Hurler, Hunter, Sanfilippo)

- development is initially normal, then plateaus and regresses - see recurrent otitis media and snoring early on - later see finger contractures, HSM, secondary umbilical hernias Diagnose with urine glycosaminoglycans it is the finger contractures and umbilical hernia that separates these from other metabolic issues

Risk factors for gastric cancer

- diet low in fruits/vegetables - H pylori - pernicious anemia - lots of dried/smoked/salted foods - barrett esophagus - uranium mining - Blood type A

Autosomal recessive pedigree

- disorders in one or more siblings, but not in other generations - males and females affected equally - risk is 1/4 for each child of two heterozygotes Calculating likelihood: if the carrier rate is 1/20, then likelihood is: 1/20 (mom) x 1/20 (dad) x 1/4 (likelihood for AR) = 1/1600

OA of the knee

- exertional pain - pain deep in the knee - Suspect with: - age >50 - morning stiffness <30 min - bony enlargement - crepitus - noninflammatory synovial fluid - ESR<20 - bone spurs on xray Treat with: - weight loss, exercise, shoe insoles - Tylenol or Advil - injection or steroid or hyaluronic acid

CMV retinitis

- exudates and scattered hemorrhages (pizza-pie eye) - this is an AIDS-defining illness - would treat with valganciclovir

Inherited thrombotic disorders

- factor V leiden (most common) - prothrombin (more common) - anti-thrombin deficiency (more likely to clot) - protein C/S deficiency (more likely to clot)

T cell immunodeficiency symptoms

- failure to thrive - diarrhea - recurrent viral infections, opportunistic infections, and fungal infections In contrast: - B cell defects, think encapsulated organisms, Giardia, sinopulmonary infections - autoimmune diseases in complement deficiency

Genetic short stature

- family is short - will have normal growth velocity - bone age will be NORMAL

Causes of transient proteinuria

- febrile illness - strenuous exercise - CHF - COPD

Recognizing rheumatic fever

- fever - erythema marginatum - polyarticular, migratory arthritis Treatment - PCN

Meningococcemia presentation

- fever - rapidly progressive, painful rash - purpuric - hypotension - DIC contrast to RMSF - rash similar, but DIC uncommon, and rare after September

Rocky Mountain Spotted Fever

- fever, myalgias, headache, abd pain, n/v/d, rash - rash is red and macular, then progresses to petechiae. Starts distal extremities, INVOLVES palms/soles Characteristic labs: - hyponatremia - thrombocytopenia - elevated LFTs - leukopenia - anemia

Chronic eosinophilic pneumonia

- fever, night sweats, asthma exacerbation, and new eosinophilia - CXR with bilateral PERIPHERAL infiltrates (the opposite of pulmonary edema)

Treatment of JIA

- first line NSAIDs, either alone or with DMARDs - if no remission on NSAIDs alone in a few mos, should add another agent - can do steroid joint injections if oligoarticular - DMARDs: MTX (first line), sulfasalazine - Biologics: Etanercept (TNF alpha, esp for polyarticular JIA), Anakinra (IL-1, for systemic) and Tocilizumab (IL-6, for systemic)

Treatment of JIA

- first line is NSAIDs (esp naproxen) - if only a few joints involved, can do joint injections - if not working, then move on to MTX with or w/o systemic steroids

BRCA testing

- for at risk individuals, testing can inform plans for breast cancer surgery. Options: - Breast-conserving surgery with intensive surveillance for second primary breast and ovarian ca (would require breast MRI + mammography yearly) - Prophylactic b/l mastectomy and salpingo-oophorectomy with no further surveillance needed

Drug therapy for autoimmune hemolytic anemia

- for mild anemia (Hgb >9), monitor only - for severe anemia and tachycardia, treat with PRBCs and steroids - plasmapheresis and IVIG are second line

Tamoxifen for breast cancer PREVENTION

- for use in women with high risk of breast ca - treat for 5 years Can use Raloxifene for breast ca prevention in POSTmenopausal women only. Has lower endometrial ca and DVT risks than tamoxifen

morphea

- form of localized scleroderma - get a hyperpigmented ring, skin in the middle is indurated. - over time, get skin thickening/sclerosis, center will appear hypopigmented/ivory colored.

Paclitaxel (Taxol)

- from the Western yew tree - treats ovarian, breast, and lung cancer (can cause anaphylactic infusion reaction)

Cleidocranial dysostosis

- frontal bossing - wormian bones - delayed eruption of teeth - hypoplastic/absent clavicles - joint laxity

Glasses in contact sports

- functionally 1 eyed athletes (corrected VA of <20/40 in one eye) should wear eye protection for ALL sports - athletes in moderate or high risk sports should wear eye protection (e.g. hockey, baseball, boxing, soccer, football) - Glasses should be the polycarbonate glasses, not normal glasses

Clinical workup of a gap acidosis

- fundoscopic exam (for methanol ingestion) - serum glucose and urine/serum ketones - lactate - serum osm and chemistry - UA (for calcium oxalate crystals = ethylene glycol)

Iron poisoning

- generally d/t > 50 mg/kg elemental iron (in a young child, could be 10 tabs of 300 mg Fe sulfate) Symptoms: - Local toxicity: abd pain, vomiting, diarrhea, GI bleeding - Systemic toxicity - cardiac, liver 5 stages: 1 (0-6 hours): direct injury to the GI mucosa. if severe - metabolic acidosis, death d/t GI fluid/blood loss 2 (6-12 hours): quiescent stage, appear to be clinically improving 3 (12-24 hours): systemic toxicity may develop in severe cases (GI hemorrhage, AMS, seizures, cardiovascular collapse, renal failure, hepatic failure, coagulopathy, metabolic acidosis) 4 (24-48 hours): hepatotoxicity 5 (2-8 weeks): GI obstruction 2/2 strictures from Fe-induced damage Management: - get level at 4 hours. If <350, ok. High risk is >500 - should get abd xray - if Fe is seen, should do bowel irrigation - would do chelation only if level >500 or severely symptomatic

Thrombocytopenia with absent radii syndrome

- genetic - presents with bilateral radial dysplasia and thrombocytopenia - TCP generally resolves by 1 year of age.

How to work up hypercortisolism

- get 24 H urine cortisol (will tell you high cortisol but not etiology, ie pituitary vs adrenal). NORMAL 24H cortisol excludes hypercortisolism OR - low-dose overnight dex suppression test with 1 mg decadron. Normal morning cortisol is <5 (adequately suppressed)

Kallman Syndrome

- get anosmia and gonadotropin deficiency - will have hypogonadism (secondary, b/c central issue)

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

- get basal cell cancers, palmar and plantar pits, and cysts of the mandible - also associated with agenesis of the corpus callosum and hypertelorism - autosomal dominant

Test clues for developmental delay

- no head control by 3 months - primitive reflexes beyond 6 mos - <50 words or no 2 word phrases by 2 years

Results of repleting B12

- get brisk red cell production in 3-4 days, can result in SEVERE HYPOKALEMIA (new red cells are using a lot of potassium) - the hypersegmented neutrophils disappear in 10-14 days - hemoglobin will rise in 1-2 weeks, but takes 8 weeks to normalize - neuro symptoms take 3-6 months to go away

Temporal lobe herniation (aka uncal herniation)

- get compression of cranial nerve III, leading to dilation of the ipsilateral pupil - also get contralateral paresis

Etiology of hypercalcemia in sarcoidosis

- get ectopic production of 1,25 vit D in the macrophages - will have associated low PTH

McCune-Albright Syndrome

- get hyperfunctioning endocrine organs - Associated with cafe-au-lait spots (coast of Maine borders) and fibrous dysplasia of the bones Classic presentation: vaginal bleeding in girls - the precocious puberty is usually evident by age 3 - will have LOW LH and FSH. Estradiol levels normal or very high - In boys, less commonly get precocious puberty Can uncommonly get hyperthyroidism or Cushing syndrome

Schmidt Syndrome (autoimmune polyendocrine syndrome type 2)

- get hypothyroidism and adrenal insufficiency - must recognize and get cosyntropin stim test to look for adrenal insufficiency - treating the thyroid alone can precipitate death. - cannot start synthroid until first dose of hydrocortisone has been given Suspect with clinical picture of hypothyroidism but also things that don't make sense (high K, low bicarb, low weight)

MDS (myelodysplastic syndrome)

- get ineffective blood cell production, increased risk of acute leukemia Unfavorable prognosis: high % of bone marrow blasts (but <20%), more cytopenias, older age, chromosome 7 anomalies Favorable prognosis: 5q or 20q deletion There are 8 types of MDS Diagnosis: - cytopenias - bone marrow biopsy with HYPERcellular marrow (lots of cells produced, but dysplastic and don't make it to the periphery) Treatment: - drugs to decrease production (azacitidine, decitabine) - BMT if younger, higher risk disease Death usually d/t progression to AML or 2/2 cytopenias

Enthesitis-related arthropathies

- get inflammation at the enthesis (where tendon/ligament/muscle inserts to the bone) Arthritis AND enthesitis OR enthesis with 2 of the following (SI joint tenderness, HLA-B27, arthritis in male >6 years, uveitis, first degree relative with HLA-B27 associated arthritis)

Hypophosphatemic rickets labs

- get low phos but normal Ca, so PTH isn't stimulated (contrast to vit D deficient-rickets, with high PTH)

Little League Shoulder (aka epiphysiolysis)

- get separation of the growth plate (epiphysis) d/t repetitive motion - manage with rest, PT

Complicated grief definition

- grief persisting >6 months, at least 6 months after a death - chief symptom: yearning for a loved one so intensely that all other desires are incapacitated

Physical exam findings in RA

- hammer toe - swan-neck deformity - ulnar deviation - boutonniere deformity NOT Heberden or bouchard nodes (OA)

Side effects of isotretinoin

- headache - joint aches - inflammatory bowel disease - high TG - epistaxis - dry skin

Nephrotic UA pattern

- heavy proteinuria - see urine fat (fat droplets, fatty casts, renal tubular cells)

Growth chart of GH deficiency

- height or length >3 standard deviations below the mean - slow growth velocity - falling off growth curve by age 3

Congenital syphilis (aka snuffles) features

- hemorrhagic, thick purulent nasal discharge

Maturity-Onset Diabetes of Youth

- hereditary form of DM. AD. 4 types - MODY 1 and 3 respond to sulfonylureas - MODY2 won't require tx until adulthood - MODY4 requires insulin Dx: document DM in 3 generations, with dx in one person before the age of 25

Associations with osteosarcoma

- hereditary retinoblastoma - Li-Fraumeni syndrome - History of radiation - Paget disease - Rothmund-Thomson syndrome (short stature, skin telangiectasias, small hands/feet, hypoplastic/absent thumbs)

AAA surgery

- high risk - should have stress testing prior to repair (don't go straight to cath)

Dyshidrotic eczema

- highly pruritic vesicles on the hands in a dishwasher

Criteria for diagnosis of chronic urticaria

- hives on most days of the week for longer than 6 weeks - no further w/u or allergy testing indicated if this is the clinical diagnosis

Septic joint features

- hot/tender joint, febrile patient - try to tap before ABX - inoculating the blood culture vials with joint fluid is higher yield than sending fluid down in sterile tubes

Labs in hyperaldosteronism

- hypertension - hypokalemia - suppressed renin

Hyperinsulinism in a neonate

- hypoglycemia with inappropriately normal insulin level (BG <40 with insulin >13) - d/t either pancreatic islet cell adenoma or focal islet cell hyperplasia Treat: diazoxide, octreotide, and CCBs. 80% ultimately require pancreatectomy

Type I RTA

- hypokalemia - hypercalciuria/nephrocalcinosis Causes: - Autoimmune (Sjogren's, SLE, RA) - Genetic - Drugs (amphotericin, lithium) - hereditary hypercalciuria Distal H+ ATPase in the intercalated cells of the distal and convoluted tubules isn't working Leads to alkaline urine Associated with low K, don't understand why Treatment: alkali therapy, potassium replacement

Associations with CPPD

- hypothyroidism - hyperparathyroidism - hemochromatosis

Prader-Willi Syndrome

- hypotonia at birth - marked obesity 2/2 hyperphagia - blond/light brown hair, blue eyes, fair skin - IQ ranges 20-80 - if male, have small penis with cryptorchidism - 2/2 chromosome 15 deletion from the FATHER (if the mother, would be Angelman syndrome)

Prader-Willi presentation at birth

- hypotonia, poor suck, + reflexes - characteristic facial features: bitemporal narrowing, almond-shaped eyes, elongated face, thin upper lip In contrast, a baby with SMA would NOT have reflexes, and rarely presents in the newborn period

Management of premature ROM

- if PPROM (earlier than 37 weeks), should be hospitalized - confirm ROM with vaginal pH (will be neutral, instead of normally acidic vagina), and also do ferning - if 32-39 weeks, get pulmonary maturity testing - if PPROM at 34 weeks or more, and lungs are mature, should deliver - if lungs mature but <34 weeks, wait until 34 weeks and then delivery - if lungs immature, wait until 36 weeks (give PPX ABX, betamethasone, tocolytics) If PPROM associated with maternal infection, delivery indicated regardless of lung maturity and gestational age

Hemophilia facts:

- if female carrier, 50% chance offspring is affected - 30% of pts will have negative FHx - A and B can be diagnosed prenatally - HA is a symptom of intracranial bleeding - start factor immediately for serious head trauma - bleeding in the forearm is an emergency d/t risk of compartment syndrome - should avoid femoral and jugular venipuncture in hemophilia

Fluid/electrolyte management in acute renal failure

- if hypovolemic, should replace volume but at slower rate and smaller volume per time to avoid flud overload (bolus 10/kg at a time over 30-60 min) - maintenance fluids should only replace insensible losses + urine output (likely less than typical maintenance rate). - fluids for replacement should be D5 - no sodium is needed.

Treatment of colon ca

- if localized, surgery alone can be curative - adjuvent chemo for locally advanced stage II or III - radiation only if high risk of local recurrence - neoadjuvent chemo only for locally advanced rectal lesions, not colon

Management of ITP

- if no or mild bleeding (bruising, petechiae) do nothing, regardless of plt count - if significant bleeding, do IVIG 1 g/kg or short course of steroids - splenectomy only for chronic, severe ITP (>12 mos)

Management of infants with prior hyperbilirubinemia

- if severe, at risk for hearing deficits - should get hearing screen

Coccidioides lung infection manifestation

- if symptomatic, will get flu-like illness - if doesn't resolve, then can get pulmonary infiltrate, adenopathy, and a pleural effusion.

Hypersensitivity Pneumonitis

- immune-mediated reaction to an antigen - Acute presentation: cough, fever, dyspnea, fleeting infiltrates. can also have subacute and chronic presentations - Treatment: avoid the antigen (take prolonged time away from work, etc.)

Arthritis with IBD

- in 25% of IBD patients Two types, peripheral joints and axial joints - peripheral not associated with HLA-B27, and correlate with gut flares - axial is HLA-B27 associated, more common in boys, and not associated with gut flares

Vasomotor rhinitis

- in dramatic or frequent changes in temperature or humidity

Rhinitis medicamentosa

- in people using inhaled nasal adrenergic agents - getting rebound vasodilation and ongoing nasal congestion - if truly allergic rhinitis or chronic rhinitis, would expect eosinophils or neutrophils, respectively, in nasal smears. If neither, suspect above.

Greenstick fracture

- incomplete fracture at the diaphysela-metaphyseal junction - cortex on one side will remain intact - occur d/t pliable nature of children's bones. - if >15 degrees of angulation, may require closed reduction

Screening in newborns with achondroplasia

- increased risk of central sleep apnea 2/2 arterial compression at the foramen magnum - should have polysomnography prior to d/c - should have head imaging (CT vs MRI) looking at the foramen magnum (wouldn't get HUS, not helpful) Other achondroplasia details: - longer use of rear-facing car seat - no mechanical swings/carrier slings

Associations with bifid uvula

- increased risk of submucosal cleft palate (SMCP)- may just have dimpling or notching - children with SMCP also have increased rate of AOM and chronic OM, leading to conductive hearing loss.

Understanding sample size in studies

- increased sample size = improved ability to detect adverse events - increased sample size = better ability to see significant difference in a small measured effect Type 1 error: concluding there is a difference when there isn't Type 2 error: concluding there isn't a difference when there is Large sample size increases the power, decreases chance of type 1 and 2 errors

Guidelines for PFTs prior to surgery

- indicated for patients with underlying lung disease if the surgery will be near the diaphragm - if lung dz is stable and having a leg surgery, for example, not needed

Presentation of neonatal hypocalcemia (like in DiGeorge)

- infant with jitters

Presentation of tuberous sclerosis

- infantile spasms (stereotyped spells of eye rolling, head drop, and truncal flexion, brief in duration, come in clusters). Often the first recognized clinical manifestation of tuberous sclerosis - hypopigmented skin lesions (contrast: neurofibromatosis 1 with hyperpigmented cafe au lait spots)

Complications of nephrotic syndrome

- infection with encapsulated organisms (esp S. pneumo) - DVT (especially with low serum albumin)

Most common causes of anaphylaxis

- infections (viral or bacterial) - food - medication - insect sting

Muscle biopsy findings in dermatomyositis

- infiltration of muscle fibers with lymphocytes - immune complex deposition - EMG: myopathic changes

Li-Fraumeni syndrome

- inherited cancer predisposition syndrome - can involve various cancers, some of them rare, and generally at ages earlier than the general population. - often due to mutation in tumor suppressor TP53 - Most common cancers: In infants - leukemia, brain tumor Older kids/adolescents - soft tissue sarcoma, osteosarcoma

Treatment of Graves eye disease

- initial goal is to establish euthyroid state - high or low can exacerbate the disease - Can also use trial of steroids - If ongoing eye disease, then proceed to thyroidectomy

Thoracic outlet syndrome

- irritation of the brachial plexus leads to impingement of the nerves and causes shoulder pain - pain can involve the neck, shoulder, arm, all the way down to the fingers, can be associated with weakness/raynauds, paresthesias - diagnosis difficult, exam doesn't always elicit sxs - get CXR to look for underlying pathology

Presentation of galactosemia in a neonate

- jaundice (direct, cholestasis) - hepatic dysfunction (elevated INR) - reducing substances in the urine (indicates a carbohydrate metabolic issue) Confirm with galactose-1-phosphate uridyltransferase level Would also think of tyrosinemia type I in this presentation, but this would have elevated urine succinylacetone level and not the urine reducing substances

Treatment of CPPD

- joint aspiration - NSAIDs and/or joint steroid injections - colchicine less effective than in gout

Diagnostic criteria for Sjogren syndrome

- keratoconjunctivitis sicca (inflammation + dry eye) - xerostomia (dry mouth) - lymphocytic infiltrate on salivary gland bx - labs with: +RF, + ANA, + anti-Ro (SSA), + anti-La (SSB)

IBS triggers

- lactose - sorbitol

Recognizing Beckwith-Wiedemann at birth

- large for gestational age - hypoglycemia - macroglossia - abdominal-intestinal wall defects (umbilical hernia, omphalocele) Note: increased rate of this in pregnancies requiring assisted reproductive technology

Acute chest

- leading causing of death in adolescents/adults with sickle cell - can be d/t infection, infarction, atelectasis, or fat embolism - should cover with ABX to treat pneumococcus, Mycoplasma, and Chlamydia (Rocephin + Azithro) - primary tx is exchange transfusion

Features of CML

- leukocytosis with left shift - EOSINOPHILS - basophils - splenomegaly - low LAP score

Presentation of SMA

- limb weakness, hypotonia - minimal or absent reflexes - tongue fasciculations - finger trembling Diagnose with checking SMN1 gene (survival motor neuron 1)

Symptoms of polymyalgia rheumatica

- limb-girdle myalgia (shoulder, hip pain), with NO muscle weakness on exam - anemia - elevated ESR - treat with low-dose Prednisone (high dose if also having temporal arteritis)

Skin Manifestations of systemic scleroderma

- limited with distal extremity/face involvement - diffuse with entire extremities, chest, abdomen, face - sclerodactyly - telangiectasias more likely in limited than diffuse - abnormal nailfold capillaries in either: reduced # of capillaries leads to bigger/more visible vessels

Inhaled corticosteroids and growth

- long term, can decrease height up to 1/2 inch. - shouldn't stop asthma meds that are otherwise controlling asthma - if growth concerns, should refer to Endo for evaluation Ultimately, can refer to allergy for immunotherapy and anti-IgE therapy which may mitigate allergic factors and decrease need for steroids

Pseudohypoparathyroidism labs

- low calcium - HIGH PTH (body is resistant to it) Often correlates with resistance to other endocrine hormones (TSH, growth hormone, etc.) Often in the setting of Albright hereditary osteodystrophy: short limbs, short stature, round fascies, obesity, intellectual disability

Prevention of preeclampsia

- low dose ASA decreases risk of preeclampsia

Labs in salt-losing CAH

- low sodium and chloride - elevated potassium and BUN - high renin (esp in comparison to suppressed aldosterone) - 21-hydroxylase deficiency, will have elevated 17-OHP also, elevated testosterone (causing the virilization) and cortisol - 11-beta hydroxylase deficiency: high 11-deoxycorticosterone, renin/aldosterone suppressed

Management of ischemic colitis

- lower GI bleeding PLUS abdominal cramping - treat with IV fluids and bowel rest - if severe/circumferential disease, add anaerobic ABX (Flagyl) - only need surgery if not resolving with medical therapy

Etiologies of low complement

- lupus - vasculitis

Antibodies associated with antiphospholipid syndrome

- lupus anticoagulant - anticardiolipin - B2 glycoprotein 1

Common causes of aPTT prolongation

- lupus inhibitor - hemophilia

Recognizing neurofibromatosis 1

- macrocephaly and learning disorders - flat, brown macules (cafe au lait spots) - axillary/inguinal freckling - optic glioma

Age 65 screening tests

- mammogram - c-scope - pap (stop at 65 if low risk and no new sex partners, but screen if hasn't been screened or high risk)

Systemic mastocytosis

- mast cells infiltrate the skin and GI mucosa get: - small, itchy bumps - intermittent flushing, dizziness Diagnose with urine histamine metabolites, or serum histamine

Neonatal thyrotoxicosis

- maternal thyroid stimulating antibodies cross the placenta, even if she isn't clinically hyperthyroid any more - Infant symptoms: irritability, flushing, tachycardia, hypertension, thyroid enlargement, exophthalmos. Can get cardiac arrhythmias and 25% chance of high-output heart failure

Lithium issues

- may drug interactions - lithium intoxication = depression - common side effect: hypothyroidism (inhibits the secretion of thyroid hormone)

Minimal Change Disease

- mean age 2.5 years, boys >girls - usually idiopathic - get gravity-dependent edema Tx: - edema: salt restriction - steroids - do renal bx if not in remission in 8-10 weeks

MENIIb

- medullary carcinoma of thyroid - pheo - mucosal neuromas NOTE - NO hyperparathyroidism

Thiazide diuretic labs

- metabolic alkalosis - low chloride - HIGH urine chloride more Na arrives to the distal tubule, reabsorption there stimulates H and K secretion

Surreptitious vomiting labs

- metabolic alkalosis - low chloride (HCl is being lost through the stomach) - hypokalemia (renal K is being wasted d/t aldosterone)

Associations with TTP

- metastatic cancer - pregnancy - lupus - mitomycin C - ticlopidine

Evaluation of vertical nystagmus

- never normal - usually d/t brainstem abnormality - Suspect Chiari I malformation In contrast to congenital nystagmus: - present at birth - horizontal or vertical - the patient doesn't sense the nystagmus/isn't bothered by it

Congenital CMV

- microcephaly - periventricular calcification - chorioretinitis - hepatosplenomegaly - purpuric rash - anemia - thrombocytopenia (contrast to congenital Rubella: cataracts, congenital glaucoma, pigmentary retinopathy, patent PDA, hearing impairment, blueberry muffin rash) diagnose with CMV isolation from urine, CSF, stool, or respiratory secretions within the first 2-4 weeks of life.

Muscle manifestations of systemic scleroderma

- mild muscle pain/weakness - mild CK elevations

Rituximab

- monoclonal antibody against CD20 (on B cells) - treats low-grade lymphomas - Drug binds CD20 on B cells, causes B cell lysis Uses: - first line for aggressive B cell lymphomas (+ chemo) - second line for low-grade B cell lymphomas

Trastuzumab (herceptin)

- monoclonal antibody against her2/neu receptor on breast cancer cells (can cause reversible CHF)

Pain in Shoulder osteoarthritis

- more common in the AC joint than the shoulder joint - pain often anterior to the shoulder or nebulous

Diagnosis of GBM

- most common and aggressive of intraparenchymal tumors in adults - On imaging, see RING-ENHANCING lesion with central necrosis and hemorrhage

Reactive Arthritis/Reactive Spondyloarthropathy (previously Reiter's)

- most common cause of acute, nontraumatic arthritis in age <50 - Triad: urethritis, conjunctivitis, asymmetric arthritis - usually involves large joints of lower extremity - common causes: GU infections, GI infections, viral illnesses, HIV - can be only one episode or recurrent Treatment: - NSAIDs - treat causative agent - don't treat recurrence with ABX - if persistent, use MTX or sulfasalazine

Marfan pearls

- most common cause of death is aortic root rupture - diagnosis made if 2 of these: ectopia lentis, aortic dilation or dissection, family hx. if only 1, there is a table of criteria to meet. - some of the criteria: wrist and thumb sign, chest wall deformity, scoliosis, myopia, pneumothorax, striae. mitral valve prolapse - always rule out homocystinuria (check homocystine in urine, normal = absent)

Chronic lymphocytic thyroiditis (aka Hashimoto thyroiditis)

- most common cause of hypothyroidism - early on get elevated thyroid hormone levels d/t cell destruction - thyroid will be enlarged, firm, NONtender (contrast to subacute thyroiditis, which should have antecedent trigger (viral infection) + TENDER thyroid)

Juvenile Graves Disease

- most common cause of thyrotoxicosis in children/adolescents - presents with: muscle weakness, anxiety, palpitations, appetite - 50% will have thyroid bruit - rare to have eye findings

ALL general features

- most common childhood malignancy - usually ages 2-5 Presentation: four Ps - pallor, pyrexia, purpura, pain. >50% with LAD and HSM Most effective areas: LN, liver, spleen, then CNS, testes, kidneys Labs: anemia, high or low WBC count, neutropenia (despite high WBCs), TCP. Often with evidence of tumor lysis Diagnosis: bone marrow >25% blasts. 85% are B cell precursor Classification: L1 - most common in childhood, small lymphoblasts (only up to 2x normal) L2 - in 2/3 of adult ALL, 14% of kids. blasts are larger than L1 L3 - the leukemic form of Burkitt (has the t(8;14) translocation)

FSGS

- most common glomerular cause of ESRD in children - HTN + nephrotic syndrome in an adolescent = more likely FSGS than minimal change dz - more common in boys and african americans - MUST get renal bx

von Williebrand Disease epidemiology and etiology

- most common inherited bleeding disorder - get mucocutaneous bleeding (epistaxis, menorrhagia, postpartum/surgical bleeding, excessive bruising) - usually autosomal DOMINANT, but expression is variable - have lack of vWF. vWF binds platelets to other platelets, and also carries factor VIII (degraded w/o vWF) - d/t decreased levels of factor VIII, have prolonged PTT

Endodermal sinus (yolk sac) tumor

- most common malignant childhood germ cell tumor often in infantile testes, ovary, or sacrococcyx - AFP elevated, bHCG normal

Myeloperoxidase Deficiency

- most common neutrophil disorder - presents with recurrent, mild infections OR can be completely asymptomatic

Wilms tumor

- most common primary kidney cancer Presentation: - median age 3 years - asymptomatic abdominal or flank mass - 50% with N/V, abdominal pain - 25% with hypertension Staging: I - limited to the kidney, can excise II - out of the kidney but can be excised III - residual tumor confined to the abdomen IV - hematogenous spread (usually to the lung) V - b/l kidney involvement (5-10% of cases) Treatment: - surgery, usually post-surgery chemo - presurgery chemo if: extending to intrahepatic IVC, proximal to the right atrium, or primary tumor is unresectable - abdominal radiation for stages III and IV. - lung radiation for pulmonary mets seen on xray

What to tell kids about skateboarding

- most frequent injuries are extremity fractures and face fractures - should wear helmet, knee pads, elbow pads, and wrist pads - ramps at parks are safer than homemade - should never ride in the street - wearing bright clothing has not been proven to reduce injury

Etiology of unstable angina

- mural thrombus formation on a ruptured or eroded atherosclerotic plaque

Teardrop cells

- myelofibrosis, other infiltrating bone marrow processes - thalassemia

Recognizing benign sleep myoclonus

- myoclonic jerking that occurs during sleep only, resolves with waking. - EEG is normal - resolves spontaneously In contrast, myoclonic seizures are single, quick jerks of an extremity that occur when awake, often associated with genetic or metabolic issues

Methanol ingestion symptoms

- nausea, vomiting, abdominal pain - visual complaints Methanol --> formaldehyde + formic acid Formic acid is toxic to the optic nerve

Ataxia-telangiectasia

- neurodegeneration - IMMUNODEFICIENCY with frequent infections and chronic lung disease - predisposed to cancer - telangiectasias

Shwachman-Diamond Syndrome

- neutropenia - exocrine pancrease failure - short stature - metaphyseal dysostoses

Test clues for speech delay

- no babbling by 9-12 mos - NO words by 18 mos - no meaningful phrases by 24 mos If language disorder suspected, should always get hearing screen

Management of scleroderma reflux

- ongoing reflux can lead to esophageal strictures - if having dysphagia suggestive of stricture, should have EGD with dilation if needed - if reflux leads to any complications (stricture, ulcerative esophagitis, or Barrett's), patient should be on lifelong PPI

X linked recessive

- only female can transmit - if a generation has only females, the disease will appear to have skipped the generation - an affected father transmits the disease allele to all his daughters (they will all be carriers) - carrier females have 50% chance of transmitting the disease to their songs Calculating likelihood: that men are affected: likelihood = prevalence of the gene. if Duchenne's is 1/5000 (0.0002), that is the likelihood that a man has it That women are affected: likelihood = 1/5000 x 1/5000 (1/25,000,000)

Septo-optic dysplasia (aka de Morsier syndrome)

- optic nerve abnormalities - agenesis/hypoplasia of the septum pellucidum or corpus callosum - hypothalamic insufficiency

Treatment of central DI

- oral or intranasal desmopressin (intranasal is more potent)

Hereditary retinoblastoma is also associated with

- osteosarcoma - soft tissue sarcoma - melanoma - pineal gland tumor

Lateral epicondylitis

- overuse 2/2 repetitive movement at the forearm - pain with carrying/lifting/gripping - tenderness of lateral epicondyle and pain with resisted wrist extension and hand gripping

Causes of false positive protein on a urine dipstick

- pH>8 - fever - CHF - UTI - very concentrated urine

Polymyalgia rheumatica

- pain (no weakness) in proximal muscles - weight loss - may have anemia/thrombocytosis - normal CK (rules out polymyositis) - normal exam

Triad of Behcet disease

- painful/recurrent oral ulcers - genital ulcers - inflammatory eye disease

Hypoparathyroidism d/t hypomag

- parathyroid cells require magnesium to secrete PTH - generally need Ca. If Ca is low, can use Mg instead. If both low, PTH hormone drops

unusual presentation of pernicious anemia

- paresthesias - history of autoimmune thyroid disease - gray forelock to w/u macrocytic anemia, get: b12, folate, MMA, and homocysteine

Waardenberg Syndrome I

- partial albinism - white forelock - premature graying - cleft lip/palate - cochlear deafness

Chediak-Higashi Syndrome

- partial oculocutaneous albinism with silvery hair - neutropenia - prolonged bleeding time - progressive neurologic decline - infection with EBV induces accelerated phase (2nd decade of life) Diagnosis: peripheral smear with giant granules in neutrophils and eosinophils

Physiologic anemia of infancy

- peaks around 2 mos old - Hemoglobin will fall to 9-11 - more pronounced in preterm infants Due to relative change in the O2 available - EPO levels drop b/c more O2 available, but in the short term less hemoglobin is produced

Characteristics of edema in nephrotic syndrome

- periorbital - worse in the morning - minimal systemic symptoms - improves over the course of the day (interstitial fluid is mobilized, excreted)

Enteropathic Arthropathy

- peripheral oligoarthritis - occurs with flares of IBD, followed by COMPLETE remission as bowel dz improves (occasionally can be separate from bowel dz sxs) - usually only few joints of lower extremities - can have erythema nodosum - can mimic ankylosing spondylitis - treat the underlying bowel dz

Langerhans cell histiocytosis on the exam

- persistent scalp and diaper rash, seborrheic in appearance - symptoms of DI - lytic lesions in the skull xray Any child with persistent seborrheic dermatitis or diaper dermatitis should be evaluated for LCH.

MEN type I manifestations

- pituitary - pancreas - parathyroid

SLE pulmonary manifestations

- pleuritic chest pain - effusions - alveolar infiltrates - pneumonitis Long term can lead to fibrosis, PAH, lung hemorrhage

Problems in patients post-renal transplant

- pneumonia and sepsis - CMV reactivation - aseptic necrosis of the femoral heads (presenting with knee pain) - cataracts

Etiologies of folate deficiency

- poor diet - increased demand (pregnancy) - EtOH

Rubella (German measles) presentation

- postauricular, suboccipital lymphadenopathy - soft palate petechiae and/or red spots - accompanied by malaise, HA, cough, fever - THEN get rubella rash (fine, pink maculopapules)

Ectopic posterior pituitary gland

- posterior pituitary will be on the floor of the 3rd ventricle. Can be seen only on MRI - associated with ANTERIOR pituitary problems - can be associated with GH deficiency only, or panhypopit - use the presence of the pituitary stalk to determine the level of pituitary involvement --> normal stalk = GH only, abnormal stalk = multiple hormone issues

Reasons to not do ECG stress test

- pre-excitation (like WPW) - > 1mm ST segment depression - LBBB Use exercise perfusion study instead

Management of Bell palsy

- prednisone, started w/in 3 days of symptom onset, has the highest chance of complete recovery - most patients do NOT have an identifiable cause Exam: will have forehead weakness (stroke would have sparing of the forehead)

Systemic primary carnitine deficiency

- presents 3 mos to 2 years with poor PO, lethargy, irritabilty - hypoketotic hypoglycemia - have defective long chain fatty acid transport into the mitochondria, leading to decreased energy production. - symptoms are often triggered by an intercurrent illness Labs: - low carnitine level - elevated transaminases - elevated ammonia May have hepatomegaly Treat with levocarnitine supplementation

Testable features of PNH

- presents with low back or abdominal pain - causes hemolytic anemia - get dark or bloody urine - may have myoglobin so that no RBCs are seen. - causes thrombosis of major vessels

Hives in the setting of a URI

- suspect erythema multiforme 2/2 Mycoplasma pneumoniae infection - can get just mild EM all the way to Stevens-Johnson.

Neonatal small left colon syndrome

- presents with symptoms of intestinal obstruction and delayed passage of meconium - associated with infant of diabetic mother - contrast enema will have narrowed L colon with transition zone at the splenic flexure (similar to Hirschsprung) but rectal bx will have NORMAL bowel innervation/ganglion cells - the enema is CURATIVE, won't need surgery

Fetal cocaine exposure

- preterm birth - low birthweight - SGA

Infant botulism

- previously associated with honey - now most commonly from soil containing a lot of spores or home-prepared food that is contaminated

Childhood primary angiitis of the CNS

- primary vasculitis of the CNS - has small and large vessel disease types Small: presents as seizures, psych manifestations, diffuse neuro deficits. Will have normal angiography Medium/large: presents as HA, focal findings, movement d/o, stroke. Will have abnormal angiography Treatment: steroids, cyclophosphamide

Embryonal Carcinoma

- primitive malignant cells - testes of adolescents - can resect if confined to the testes - often with AFP and/or bHCG elevation

Vaccines after transplant

- prior to xplant, should get any age-appropriate vaccines at least 2 weeks before After xplant: - jury is out on live vaccines - would only do it if community outbreak - inactivated vaccines can be given starting 6 mos afterwards

Nephrogenic systemic fibrosis features

- progressive disease of skin - In patients with CKD after exposure to gadolinium - Gad gets deposted in the tissues - Get tightening of the skin, looks fleshy with yellow papules/plaques - Can be itchy or painful - Biopsy: dermal fibroblasts, +CD34

Treatment of polymyositis and dermatomyositis

- prompt treatment with high-dose steroids - cancer screening (if there is poor response to steroids, reassess for cancer) Dermatomyositis rash: hydroxychloroquine If steroid resistant: MTX, azathioprine, cyclosporine

People who need SBE prophylaxis

- prosthetic valve - hx of endocarditis - unrepaired cyanotic dz - repaired with prosthetic material or device that is <6 mos old - hx of hrt xplant with valve disease

Carbon monoxide toxicity management

- pulse ox is unreliable (good sat doesn't mean things are ok) - give 100% O2 via NRB - If serum carboxyhemoglobin levels are high, should use hyperbaric O2 (speeds clearance, reduces incidence of delayed neurocog impairment) Note, if Lactate >90, should suspect cyanide poisoning and administer sodium thiosulfate.

HSP presentation

- purpura/petechiae of lower extremities predominanting - arthritis/arthralgia - abd pain - hematuria/proteinuria Abdominal pain: can be 2/2 intussusception (suspect with palpable mass) - should work up with abd U/S and surgical consult. (No CT - unnecessary radiation, no barium enema b/c will be in small bowel, won't be seen)

Management of hypothyroidism with cardiac dz

- quickly treating hypothyroidism can precipitate a cardiac event - as thyroid improves, CO will improve, and if underlying CAD, coronaries may not be able to adjust quickly and lead to MI - should replete with low dose repletion, never IV

Drugs associated with drop in platelet

- quinine (uncommon now) - sulfa - rifampin - digoxin - vancomycin - tylenol

Treatment of prostate cancer

- radical prostatectomy for local disease AND life expectancy >10 years - radiation for T1-T3 - if Gleason 7-10, can add androgen deprivation therapy to radiation even if TNM classification is good, if gleason stage is high, likely more appropriate for radiation than surgery Hormonal therapies: - LHRH agonist (leuprolide) PLUS androgen receptor antagonist (flutamide, bicalutamide) - side effects: weight gain, gynecomastia, hot flashes, 5-8% increased cardiac risk, increased DM risk - used for metastatic disease, while getting radiation, with PSA-only recurrence

Meningococcemia features

- rapid onset - rash often initially thought to be viral - 10% mortality rate, especially with: young age, hypotension, leukopenia, absence of meningitis, thrombocytopenia, and coma - NO association between serotype and mortality - pericarditis can occur but isn't related to death rate Treatment: empiric should be Rocephin or cefotaxime. Definitive is PCN G

Chondroblastoma

- rare - usually epiphysis of long bones - will present with pain in major joint - frequent distractor on the exam

When to get head imaging for a headache

- recent school problems/behavior issues - abnormal neuro signs - fall off in growth - HA awakening from sleep - early morning HA that is worsening - HA with FOCAL seizure - migraine followed by a seizure - HA with vomiting and no FHx of migraines - cluster HAs in children - child <5 years old (debatable) - brief coughing resulting in a headache - valsalva headaches

Dermatofibroma

- red, tan, or hyperpigmented - dome shaped - on arms, legs, or trunk - DIMPLE SIGN - dimples when squeezed, very specific Observe

Most common sites for thrombosis in nephrotic syndrome

- renal vein - sagittal sinus - pulmonary arteries - femoral arteries

PNA with effusion

- requires thoracentesis - if gram stain + of pleural fluid, requires chest tube. IV ABX will not be adequate

Criteria for admission for eating disorder

- resting HR <50 during the day WITH orthostasis (BP>10, HR>20) - HR <40 at night - SBP <90 - hypothermia (<96) - cardiac arrhythmia - refusal to eat - electrolyte disturbances

Laurence-Moon-Biedl/Bardet-Biedl syndrome

- retinitis pigmentosa - obesity - intellectual disability - hypogonadism - genital hypoplasia - polydactyly

Diagnosis of Lyme disease

- screen is the EIA (enzyme immunosorbent assay) if positive, should confirm with: - Western blot Note, acute EBV infection can cause false + EIA

Renal cell carcinoma clues

- scrotal varicocele - erythrocytosis (2/2 increased EPO production) - abd pain - hematuria

Recognizing D-lactic acidosis

- suspect with short gut Pathognomonic: neuro findings (unsteady gait) plus acidosis (low bicarb) - often get GI upset symptoms

Shwachman-Diamond syndrome

- second most common cause of exocrine pancreatic insufficiency in childhood, after CF Features: - bone marrow dysfunction - skeletal abnormalities - increased risk of leukemia Present with steatorrhea, growth failure, ADEK deficiencies, and symptoms of bone marrow dysfunction. - pancreatic insufficiency tends to get BETTER with age (unlike CF) Diagnose: abdominal U/S (or CT/MRI), looking for fatty replacement of pancreas

Achondroplasia pearls

- see trident hands and macrocephaly - xray will have squared-off iliac wings, thick femoral necks, and ice cream scoop shaped femoral heads - can have foramen magnum stenosis that causes compression of the upper cord Typically results from new mutation, and increased rates with advanced PATERNAL age

Possible acute result of alcohol binge drinking

- seizure (even w/o hx of epilepsy) (note, the answer is not A fib or pancreatitis)

Clinical presentation of TGA

- severe cyanosis within hours of birth WITHOUT respiratory distress and WITH lack of improvement despite 100% O2 contrast to PPHN, may also have cyanosis and no respiratory distress, but WILL improve with O2

Molluscum features

- sexually active adults - like the skin folds and genital areas - can be itchy during the inflammatory stage - Biopsy, if performed, shows Henderson-Patterson bodies (inclusion bodies)

Management of black widow spider bite

- shiny black with red markings on the body - bites usually blanched circular patch with a surrounding red perimeter and central punctum - can get: acute muscle pain, rigidity, and diaphoresis, 1-8 hours after the bite. Can be systemically ill (tachycardic, N/V, chills, respiratory distress) - can often do only local wound care and analgesics. Indications for antivenom: - wt <40 kg - symptoms of severe envenomation

Absence seizures

- short lapses in awareness with amnesia - generally no longer than 10 seconds Usually 4-8 years old and more common in girls - can be provoked by 3-4 minutes of hyperventilation EEG: typical 3x/second generalized spike and wave discharge Treatment: Ethosuximide, lamictal, valproate

Features of fetal alcohol syndrome

- short palpebrae - long, smooth philtrum - thin upper lip - radioulnar synostosis - VSD - hypoplastic nails - short fifth digits - hockey stick upper palmar crease

Silver-Russell syndrome features

- short stature - frontal bossing - triangular fascies - shortened/incurved 5th fingers - asymmetry - low birth weight

Rubinstein-Taybi Syndrome

- short stature - short limbs - microcephaly - beaked nose - broad thumbs and great toes - congenital heart disease

Skeletal anomalies in Turner

- shortening of the 4th metatarsal and metacarpal - Madelung deformity: distal radioulnar subluxation

Newborn of diabetic mother management

- should eat in the first hour, with BG check 30 minutes after feeding - don't need to supplement formula if no sxs of hypoglycemia

Treatment of infants of hep B carriers

- should get hep B vaccine AND immunoglobulin at birth.

Work up of preauricular pits

- should have hearing screening and formal audiologic evaluation if screen is abnormal No significant connection btn preauricular pits and renal issues, no need to do renal U/S

DM II diagnosis

- should have testing twice (FBG, A1c, etc) UNLESS obvious sxs of hyperglycemia

Home birth recommendations

- should receive vit K, but can be delayed until after first breast feed - blood glucose only if risk factors or symptomatic - cord blood required if mother is Rh negative - bathing can be delayed

Chronic paroxysmal hemicrania definition

- similar to cluster headaches - trigeminal nerve pain with autonomic features (tearing, conjunctival injection, rhinorrhea) - last 15 minutes, 8-40 times/day (cluster HA is 15-180 minutes and 1-8x/day)

If a child is born with myelomeningiocele, also screen for:

- skeletal issues (club feet, dislocated hips) - GI issues (neurogenic bowel) - GU issues (VUR, hydronephrosis, neurogenic bladder)

Affects of smoking during pregnancy

- small baby - attention problems extending into adulthood

Proteus syndrome

- soft tissue hypertrophy - hemihypertrophy - nevi - lipomas - hemangiomata - accelerated growth

Thyroid cancer features

- solitary nodule at age <20 is 25% chance of being malignant - usually nodule is a different texture than the rest of the thyroid Work up: 1. TSH - if suppressed (suggests hot nodule) get thyroid scan. If normal (suggests cold nodule) get ultrasound 2. If nodule present, get FNA

Recognizing ectodermal dysplasia

- sparse hair - extensive skin peeling - newborns have poorly functioning sweat glands - at risk for hyperthermia if in an excessively warm environment - later on, develop conical teeth, saddle nose deformity, frontal bossing, malar hypoplasia, rasp voice

Ankylosing Spondylitis clinical features

- spinal and SI joint fusion --> bamboo spine on xray - pain DECREASED by exercise - onset young adulthood - Systemic sxs: uveitis, aortitis (can present as AI, can lead to heart block, CHF), apical pulmonary fibrosis (late, rare finding)

Management of CAH

- steroids (hydrocortisone) to treat adrenal insufficiency and inhibit excessive androgens - if salt-losing, give mineralocorticoid (fludrocortisone) and oral sodium Hydrocortisone is required for life

Management of warfarin skin necrosis

- stop warfarin - start heparin - given vitamin K to counteract the warfarin - if not improving, give protein C concentrate or FFP

Management of scorpion sting

- supportive care - monitor for 4-5 hours for progression of symptoms - if severe envenomation: opioids, sedation with versed, antivenin is controversial Venom is a neuro toxin - causes increased and repititive firing of neuronal axons Symptoms: pain, neuromuscular hyperactivity, cranial nerve dysfunction Highest risk for infants and young children Will have + tap test: tapping over the site of the sting results in severe pain

Working through premature puberty in a boy

- typically, should have FSH/LH rise, then sex hormones from the gonads, then testicular enlargement - if getting pubic hair, axillary hair, body odor but none of the other things, likely premature adrenarche - In this case, have activation of the adrenal androgens (elevated DHEA-S) - could worry about late CAH, but that should have elevated 17-OHP So: early pubic hair/body odor, no central signs, penis/testicles tanner I, and isolated elevated DHEA-S is premature adrenarche

Liver tumor scenarios

- under 6 mos old with multiple liver lesions and normal AFP = hemangioendothelioma - 2 year old former preemie with liver mass and elevated AFP = hepatoblastoma - 8 year old with solid mass and elevated AFP = hepatocellular carcinoma - Adolescent on OCPs with hepatic mass = adenoma - Liver mets under age 2 = neuroblastoma - liver mets in older kids = lymphoma, sarcoma, Wilms tumor

Risk factors for testicular cancer

- undescended testes - family hx testicular ca - infertility - HIV (21x increased risk)

Recognizing Ichthyosis

- unusually thick, scaly skin, esp preauricular, lateral neck, flank, NO plams/soles - cataracts - increased risk of testicular cancer Manage with moisturizing/softening the skin with urea cream - topical steroids and calcineurin inhibitors would be second line therapies

Isoniazid and liver enzymes

- up to 5x normal is OK in asymptomatic patients - should be monitored for symptoms of hepatotoxicity, but not necessary to check LFTs if clinically doing well. - only get monthly LFTs if other underlying liver issues that could complicate the issue

Iron deficiency vs thalassemia

- use the RDW (red cell distribution width) to tell the difference - RDW will be NORMAL in thalassemia but INCREASED in Fe deficiency

benefit of case series

- useful in generating etiologic hypotheses - used for health planning purposes - use for allocating resources

Diamond-Blackfan anemia (aka congenital hypoplastic anemia)

- usually <1 year old - 1/3 have thumb anomalies, short stature, glaucoma, renal anomalies, hypogonadism) - get macrocytic anemia (contrast to transient erythroblastopenia of childhood with normal MCV) - manage with transfusions until 1 year old, then steroids (will affect bone growth) - 25% will have spontaneous remission

Uveitis in JIA

- usually asymptomatic - higher risk for uveitis with: female, pauciarticular (4 or fewer joints involved), ANA+, and age <4

Ascaris lumbricoides infection

- usually asymptomatic - if heavy burden can have malabsorption, malnutrition, and growth retardation - common in tropical regions (Myanmar)

von Willebrand Disease features

- usually autosomal dominant - labs in type I (90% of cases): prolonged bleeding time, decreased vWF antigen, decrease in VIII activity, decrease in biologic activity (ristocetin cofactor assay) type I: quantitative defect type II: qualitative defect type III: rare, very severe Treat mild to moderate type I with DDAVP (causes release of vWF and VIII from endothelial cells)

Psoriatic Arthritis

- usually in patients with more than just psoriasis rash - often associated with nail pitting, onychlolysis (separation of nail from bed), oil spots (brown discoloration under the nail) - can have severe, resorptive degeneration of joints ("arthritis mutilans"), asymmetric sacroiliitis, and hand DIP joints (RA is MCP and PIP joints) Treatment: - NSAIDs, DMARDs if refractory, biologics very effective - do NOT use hydroxychloroquine - can worsen psoriasis rash

Features of hepatoblastoma

- usually infants and very young children - associated with low birth weight, Beckwith-Wiedemann, FAP, Li-Fraumeni, trisomy 18 Labs: high AFP, anemia, thrombocytosis

ITP features

- usually preceded by virus - presents with acute bleeding, petechiae, purpura - smear with few, big platelets, but not GIANT platelets, which would indicate an inherited plt disorder. - most kids will have normal plt count in 12 mos. If no recovery in 1 year, more likely to become chronic. Treatment: usually if only <10-20K - IVIG (most effective) - steroids - Rhogam (second most effective)

Lupus cerebritis

- vague neuro symptoms - confusion, difficulty with memory, sleepiness, headaches - CSF can be normal or abnormal.

Nephritic UA pattern

- variable proteinuria - granular material - "active sediment" : red cells, white cells, protein, red and white casts

Meniere disease triad

- vertigo - unilateral hearing loss - tinnitus

17-hydroxylase deficiency

- very rare - hypertension, hypokalemia, suppression of renin/aldosterone - males present as phenotypic girls, girls present with failure of sexual development at puberty

Indications for Tamiflu

- very young (<2) - old (>64) - chronic conditions - chronic care facilities - immune suppressed - morbidly obese - pregnant women - younger than 19 on chronic ASA - severe illness leading to hospitalization

Acute disseminated encephalomyelitis

- viral prodrome - encephalopathy with new neuro deficits - MRI will show multiforcal abnormalities - treat with steroids, sometimes IVIG Contrast to acute cerebellar ataxia: cerebellar sxs but no focal deficits (sided-weakness)

Causes of hypocalcemia

- vitamin D deficiency - CKD - severe pancreatitis - rhabdo - high Mg - hungry bone syndrome (after parathyroidectomy) - hypoparathyroidism - citrate (in PRBCs, chelates calcium, drops the ionized form only)

Presentation of HLHS

- w/in first week of birth with cardiogenic shock - No S wave in V1 (c/w RVH) but INVERTED t wave - single S2

Cryptosporidium diarrhea

- watery diarrhea - abd pain, vomiting - weight loss - NO fever Look RED with modified acid-fast stain

Refeeding syndrome

- weakness, fatigue Labs: low phos, K, Mg To avoid, should feed initially only 50% of the calculated energy requirements, and monitor Mg and phos - should also be supplementing vitamins (thiamine)

Diagnosis of exercise-induced bronchospasm

- wheezing/cough occurring 5-10 min after onset of strenuous physical activity - PREVENTED by warming up for 15 min prior to episodes - occur even in good physical condition

Determining due dates

- women on OCPs before pregnancy makes it less precise because menstrual history is less reliable - similarly, women with irregular periods is unreliable Can: - use the wheel - substract 3 mos from last period then add 7 days - add 280 days to onset of last period (if woman has a 28 day period)

Toilet training factors

- work up daytime eneuresis if child is older than 4 - nocturnal eneuresis is present in 20% of 5 year olds, esp with family history

If you diagnose choanal atresia:

- work up for CHARGE: coloboma, heart defects, choanal atresia, retardation of growth and development, GU anomalies, ear anomalies, hearing loss

Infections in contact lens wearers

- worry about acanthamoeba - get blurry vision, photophobia, and history of poor lens hygiene - can diagnose with corneal scraping or biopsy, will have trophozoite or cyst in the biopsy

Features of OA

- worse with activity - slow, progressive onset - usually involves hands, feet, knees, hips, spine (rare to involve ankle, wrist, elbow) See non-erosive, ASYMMETRIC synovitis WITHOUT calcium in the cartilage

Treatment of Hep C

- would treat a younger patient with significant liver dz. Not an 80 year old with +hep C Ab but otherwise only LFT elevation - treat with peginterferon + ribavirin + protease inhibitor (boceeprevir or telaprevir)

Risk factors for recurrent febrile seizures

- younger age at first seizure - family history of febrile seizures - lower fever at the time of the seizure - shorter interval btn onset of fever and first seizure

Safe rate for dropping sodium

0.5-1 mEq/L/h

Timeout

1 minute per age of life By age 5, should transition to loss of privileges

Reactive arthritis

1-4 weeks after GI infection (Yersinia, Shigella, Salmonella, Campylobacter) or GU infection (chlamydia, mycoplasma). - can get urethritis even if the infection was in the gut

Pancreatic enzyme dosing for CF by age

1-4 years - 16-24K U/meal 5-12 years - 24-40K U/meal >12 years - 40-64K U/meal

3 inborn errors of steroidogenesis that always have salt-wasting

1. 21-hydroxylase deficiency 2. Lipoid adrenal hypoplasia 3. 3B-hydroxysteroid dehydrogenase In all, have loss of both cortisol and aldosterone

4 categories of intrinsic AKI

1. ATN 2. Intratubular obstruction (stones, myeloma, drugs that crystallized in the urine) 3. Interstitial nephritis 4. Glomerular disorders

Etiology of anemia in anemia of chronic disease

1. Abnormalities of iron metabolism with trapping of iron in macrophages 2. Inability of the marrow to increase erythropoiesis in response to anemia 3. Relative decrease in EPO production

Alpha thalassemia

1. Alpha thal trait: missing 1/4, asymptomatic, no hemoglobin changes, labs totally normal 2. Alpha thal minor: missing 2/4, asymptomatic but with microcytosis and mild or no anemia 3. HbH: missing 3/4, get moderate to severe hemolysis. Electrophoresis with hemoglobin Bart's (tetramer of gamma) 4. Hydrops fetalis: 4/4 missing, in utero death

Metabolic disorders presenting as acute encephalopathy

1. Amino acid diseases (Maple syrup urine) 2. Hyperammonemias (ornithine transcarbamylase (OTC) deficiency) 3. Organic acid diseases (propionic acidemia) 4. Sugar intolerances (galactosemia, fructose intolerance) Management strategies: provide adequate calories to prevent catabolism and hydrate (D10 0.45NS @ 1.5x maintenance)

Beta thalassemia

1. Beta thal minor: heterozygote, mild or no anemia, microcytic, asymptomatic. Hemoglobin A2 >3.5% is diagnostic 2. Beta thal major (Cooley anemia): homozygote, no beta, alpha globin precipitates into inclusion bodies (Heinz bodies). Get symptomatic anemia, chipmunk facies (picture). Electrophoresis with mostly HbF. Transfusion dependent. 3. Beta thal intermedia: somewhere in between minor and major.See hemoglobin A2 (a2d2) and hemoglobin F.

Evaluation of dyspnea in coal miner

1. CXR 2. (if ongoing Sxs despite normal xray) PFTs looking for obstructive lung dz - will see decline in FEV1 3. chest CT looking for interstitial dz

Categories of hypertension in pregnancy

1. Chronic HTN: preexisting, or present before the 20th week 2. preeclampsia: HTN + proteinuria AFTER the 20th week (and no hx hypertension) 3. Gestational HTN: after the 20th week, no proteinuria, no hx HTN 4. preeclampsia complicating chronic HTN: worsening HTN + proteinuria after the 20th week when before well controlled

Ways that liver disease causes anemia

1. Cirrhosis --> spur cell anemia d/t abnormal cholesterol production 2. Portal HTN --> splenic sequestration and cytopenias 3. EtOH --> nutritional anemia, esp folate 4. EtOH --> directly inhibits EPO production and erythropoiesis 5. Viral hepatitis --> directly inhibits marrow and causes autoimmune hemolysis 6. GI blood loss occurs d/t varices

Pernicious anemia in children

1. Congenital: presents before age 3, associated with consanguinity. Will have absent intrinsic factor, but not an antibody-driven process 2. Juvenile pernicious anemia: older children, similar to the adult form, autoimmune disease against intrinsic factor. Will have gastric atrophy and decreased acid secretion (not present in congenital form)

kidney injury after catheterization

1. Contrast nephropathy - ATN that improves quickly, no skin findings 2. Cholesterol emboli - stepwise progression of renal failure, also see blue toes (diagnose with skin bx of lesion)

Thinking through hyponatremia

1. Determine serum Osm - Hypertonic = glucose, mannitol - Hypotonic 2. If hypotonic, assess volume status. Etiologies of hypotonic hyponatremia: - hypotonic LOW volume: diuretics, GI losses, third spacing, Addison's dz (low aldosterone decreases Na reabsorption, thus increasing Na and K reabosprtion) - hypotonic HIGH volume: CHF, cirrhosis, nephrotic syndrome, kidney dz - hypotonic NORMAL volume: SIADH

Treatment of fistulizing Crohn's Dz

1. Exam under anesthesia 2. Infliximab Exam will allow abscesses to be drained Infliximab is FDA approved and the most effective treatment of fistulizing Crohn's Dz.

Definition of obstructive lung disease

1. FEV1/FVC <70% 2. FEV1 to determine severity of obstruction

Definition of restrictive lung disease

1. FVC <80% is suggestive of 2. Need TLC <90% with PFTs to confirm

Types of large artery vasculitis

1. Giant cell arteritis/polymyalgia rheumatica 2. Takayasu arteritis 3. Aortitis

Ventilator associated PNA preventions

1. HOB >30 degrees 2. daily assessment of vent weaning 3. chlorhexidine mouth wash

Calcium/phosphorous disorders summary

1. High calcium and high phosphorus is due to high vitamin D 2. Low calcium and low phosphorous is due to low vitamin D 3. High calcium and low phosphorous is due to hyperparathyroidism 4. Low calcium and high phosphorous is due to hypoparathyroidism

Most common etiologies of asymptomatic, persistent hematuria in an otherwise healthy child

1. Idiopathic hypercalciuria (diagnosis with urine calcium:creatinine >0.2 2. IgA Nephropathy 3. Thin BM disease 4. Early Alport syndrome (fhx hearing loss, renal failure, esp in males)

Most common causes of gross hematuria in children

1. IgA Nephropathy 2. Post-strep GN

Work up of interstitial lung dz

1. PFTs to confirm it is restrictive 2. either high res CT OR transbronchial lung bx

Types of medium artery vasculitis

1. Polyarteritis nodosa 2. Churg-Strauss 3. Wegener granulomatosis 4. Microscopic polyangiitis

Categories of thrombocytopenia etiology

1. Production defect --> bone marrow issues. Toxins, infiltration, aplasia, sepsis, HIV 2. Hypersplenism --> usually associated with drops in other cell lines as well 3. Survival defects --> consumption (DIC, HIT, TTP, HELLP) or ITP

Causes of renovascular hypertension

1. RAS (usually bilateral, men >50, diabetics) 2. Fibromuscular dysplasia (usually bilateral, women <40) can also be d/t scleroderma, vasculitis Will hear a CONTINUOUS (not systolic) bruit On imaging, with fibromuscular dysplasia will see a "string of beads" with multiple aneurysmal dilations

Thrombocytopenia in an infant

1. TCP in a newborn may be a sign of bacterial sepsis 2. in the setting of microcephaly, may be an indication of CMV

von Willebrand Disease types/diagnosis

1. Type I - quantitative defect, most common (70%) 2. Type II - four subtypes, all QUALitative defects 3. Type III - rare, severe. Autosomal recessive, undetectable vWF levels, presents like hemophilia Diagnosis of type I - abnormal platelet function tests - decreased vWF antigen - decreased factor VIII activity (proportional to decreased vWF antigen) - decrease in biologic activity (measured with ristocetin cofactor assay) Treatment: - DDAVP, causes a release of vWF and factor VIII from endothelial cells - if active bleeding, give factor VIII concentrates do not use DDAVP for type IIb vWD (d/t a mutant vWF) b/c increases release of bad vWF and worsens sxs.

Treatment of aplastic anemia

1. immunosuppressive therapy: antithymocyte globulin, cyclosporine, prednisone (effective but common relapses) 2. bone marrow xplant If xfusions are needed, do not use family blood - want to prevent alloimmunization in case they later get a BMT

Breast ca treatment principles

1. local control (removal of tumor) - either lumpectomy or mastectomy - if lumpectomy, ALWAYS followed by radiation 2. systemic control: in the form of chemo, hormonal, or biologic NEOadjuvent chemo has not shown survival benefit Node NEGATIVE disease: Tumor <1 cm: local control (lumpectomy), NO chemo Tumor 1-4 cm: local control (lump or mastect), YES chemo Tumor >4 cm: local control (mastectomy), YES radiation Node POSITIVE disease: the same surgical approach, but adjuvent chemo for ALL tumor sizes

Diagnoses based on coag studies

1. long PT, normal PTT: - warfarin - vit K deficiency - factor VII issue 2. Long PTT, normal PT: - heparin - factor VIII, IX, XI, XII (get mixing study to sort out deficiency vs inhibitor) Factor VIII: will correct, then lengthen again 3. Long PT and PTT: - common pathway defect - DIC - liver dz 4. Normal PT and PTT: - factor XIII deficiency

Chemistry in multiple myeloma

1. look for LOW anion gap - the circulating paraprotein has a positive charge and decreases the gap 2. less likely can get the type 2 RTA findings of non-gap acidosis and hypokalemia, but #1 is even more likely

Breast ca workup

1. mammogram, ultrasound, +/- MRI 2. aspiration (FNA)/biopsy 3. determine ER/PR and Her2/neu status 4. treat

Work up of thyroid nodule

1. notice nodule 2. get TSH 3. if TSH low (?hyperthyroid) get a thyroid scan 4. if TSH high or normal, do U/S and FNA

Sequence of ECG changes in hyperkalemia

1. peaked T waves, shortened QT 2. lengthened PR and QRS 3. loss of P wave and QRS --> sine wave 4. V fib

Normal hemostasis process

1. primary hemostasis: blood vessel constricts, platelets adhere 2. Platelets get activated, glycoprotein IIb/IIIa minds fibrinogen, platelets get cross-linked 3. liquid phase: factors III and VIIa generate IXa, thrombin generates VIIIa 4. VIIIa and IXa generate Xa 5. Xa and Va activate thrombin and fibrin

Asthma during pregnancy

1/3 of patients have worse sxs during pregnancy Should step up therapy just as for non-pregnant patients

Lymphoblastic Lymphoma

1/3 of pediatric NHL cases - 80% of cases originate from thymic T cells - can present as an anterior mediastinal mass, or nonspecific lymphadenopathy - common in adolescent males

Hypospadias

1/300 boys - do NOT circumcise (b/c the surgical repair will use the preputial skin) - NOT necessary to do any imaging, usually an isolated finding - should be repaired before age 2

Number needed to treat calculation

1/ARR = 1/(rate in placebo - rate in treatment)

Normal anion gap

10 +/- 3

Intervals for colonoscopy screening

10 years: no polyp or hyperplastic polyp 5-10 years: - 1 or 2 small tubular adenomas with low-grade dysplasia 3 years: - 3-10 adenomas or - 1 adenoma > 1 cm or - Any villous or high-grade dysplasia < 3 years: - > 10 adenomas on a single exam 2-6 months:​ - Sessile adenomas that are removed piecemeal

Dose of synthroid for infants with hypothyroidism

10-15 ug/kg/day (in contrast, adults require 2-3 ug/kg/day)

Impaired fasting glucose

100-125

WAGR syndrome

11p13- deletion W - Wilms tumor A - aniridia G - GU malformations R - intellectual disability (MR) male genital hypoplasia - gonadoblastoma - long face - ptosis - beaked nose - poorly formed ears

FEV1 change consistent with positive bronchodilator response

12%

Dosing of HCTZ

12.5 mg provides the greatest antihypertensive effect 25 mg just causes more K wasting

HPV associated with increased cervical ca risk

16, 18, 31, 35

Use DNA PCR to test for HIV in babies until

18 months After 18 mos, use ELISA

Primary Sjogren syndrome features

2/2 CD4+ T cell lymphocytes that infiltrate lacrimal and salivary glands - Primary Sjogren's most often in older women - presents with sicca complex (dry eyes, mouth), + parotitis and adenopathy - Labs: 90% RF positive, 70% ANA positive, 50% SSA positive, 30% SSB positive Diagnosis: -history of dry eye/mouth - autoantibodies - biopsy of minor salivary glands - Can diagnose xerophthalmia - Shirmer test (<5 mm wetting in 5 minutes, normal is 15 mm) Tx: Symptomatic - wetting agents, punctal plugs - pilocarpine - steroids, immunosuppressants only for systemic syndromes (peripheral neuropathy, lupus-like features)

Tularemia

2/2 Francisella tularensis Think Arkansas, Missouri, and Oklahoma - can be tick borne or animal borne - often causes ulcerations at site of tick bite, and get glandular/lymph node enlargement - dx with acute and convalescent titers - do NOT biopsy/aspirate the lymph node involved - can cause the organism to aerosolize treat with PO doxy or IV gent.

Malignant pleural effusions

2 causes: - exudative reaction to mets - chylous 2/2 lymphatic or thoracic duct obstruction (most common in NHL)

Osmolar gap calculation

2*Na + BUN/2.8 + glucose/18

Hemolytic disease of the fetus and newborn

2/2 ABO incompatibility - O mothers have A/B antibodies, and the IgG will cross the placenta - get jaundice w/in 24 hours of birth Potential complications: - kernicterus (bili needs to be >20 to be at risk for this) - late anemia of infancy - in the first month after birth, d/t circulating maternal IgG

Babesiosis

2/2 Babesia microti - Febrile illness with hemolysis - Tick borne (same tick as Lyme and anaplasma) --> can have co-infection - All three cause fever, only babesia causes hemolysis - If treating with Doxy and patient has ongoing fever, suspect Babesia (anaplasma and Lyme both treated by doxy)

Whipple Disease

2/2 Tropheryma whippleii - Causes palindromic rheumatism (intermittent, inflammatory arthropathy), recurrent diarrhea with associated malabsorption, constitutional sxs, fever, neuro sxs, LAD, and hyperpigmentation - Neuro sxs: slow, progressive dementia Key demographic: middle-aged men with diarrhea and fat malabsorption Treat: DS Bactrim for 1 year.

Galactosemia

2/2 deficiency of galactose 1-phosphate uridyl transferase deficiency Cannot breakdown galactose (which is in lactose) Presentation: jaundice, HSM, hypoglycemia, vomiting, seizures, cataracts, cirrhosis - At increased risk for E coli sepsis (precedes diagnosis of galactosemia) Diagnose: decreased GALT enzyme activity Treatment: avoid galactose. Still some long-term effects (ovarian failure, amenorrhea, developmental delay)

Beckwith-Wiedemann syndrome

2/2 excess of IGF-2 - fetal overgrowth syndrome, with hypertrophy of organs - macroglossia, hepatosplenomegaly, nephromegaly, pancreatic B cell hyperplasia (excess insulin, get hypoglycemia) - predisposed to Wilms tumor, adrenocortical carcinoma, and hepatoblastoma Should have abd U/S Q3mos until age 8 and AFP Q6 weeks until age 6

Bullous impetigo

2/2 exfoliative toxin from S aureus Appears as vesicles, then rapidly progresses to flaccid bullae with clear/yellow fluid. NO nikolsky sign Often in the diaper area Culture the fluid and start PO Clinda

Aldolase B deficiency

2/2 fructose 1,6-bisphosphate aldolase deficiency get accumulation of fructose 1-phosphate, severe symptoms when fructose is ingested Completely well until fructose or sucrose is ingested. Get jaundice, vomiting, hepatomegaly, lethargy, seizures Suspect if fructose in the urine

Megaloblastic anemia

2/2 impaired DNA synthesis Usually d/t folate or B12 deficiency, but can also be d/t drugs - See macrocytic RBCs and hypersegmented PMNs (at least 5 lobes)

Central Hypothyroidism

2/2 pituitary etiology Diagnosis varies from primary hypothyroidism: will have low-normal or low TSH, so must check free T4, which will be low.

Central pontine myelinolysis

2/2 too rapid correction of hypoNa Na goes up, water leaves cells rapidly, cells shrink, demyelination occurs

Cerebral edema

2/2 too rapid drop of hyperNa Na goes down, water enters cells rapidly, cells swell and burst

S aureus food poisoning

2/2 toxin ingestion - starts 4-6 hours after food ingestion - have n/v, also diarrhea - can cause severe dehydration - treat supportively, usually resolves in 12 hours

Drug-induced lupus

2/2: Procainamide, hydralazine, chlorpromazine, PTU, phenytoin, minocycline, anti-TNF drugs Sxs: - constitutional sxs (fever, arthralgias) - serositis - rash Will be ANA and ANTI-HISTONE positive Should resolve 6 weeks-7 mos after stopping the drug.

Polymyalgia rheumatica

20% of PMR patients get giant cell arteritis Typical presentation: elderly patient with profound morning stiffness and bilateral shoulder-girdle and hip aching, with hand swelling In contrast to polymyositis - PMR presents with PAIN, polymyositis presents with WEAKNESS labs: will have normal CK (in contrast to polymyositis) Tx: steroids (low dose) - responds quickly (1-2 days) If not responding quickly, suspect giant cell arteritis or alternative diagnosis (cancer)

Hemochromatosis arthritis

20-40% of hemochromatosis patients will get it, usually age >50 - affects small joints first (2nd and 3rd MCPs especially), then moves to big joints - joint fluid is NONinflammatory - morning stiffness <30 min - Xrays with narrowed joint spaces - can see evidence of CPPD disease (associated with this) Treatment: tylenol/NSAIDs. Phlebotomy doesn't improve this

Alagille Syndrome

20p12- deletion AUTOSOMAL DOMINANT, due to mutation of the jagged-1 (JAG1) gene TRIANGULAR face - long nose - bile duct paucity with cholestasis - PULMONARY VALVE STENOSIS - ocular defects - butterfly vertebrae Typically get jaundice/itching by 3 mos. some will develop liver failure

DiGeorge Syndrome

22q11.2 deletion (also called velocardiofacial syndrome) - cleft palate - thymus agenesis or hypoplasia - parathyroid gland hypoplasia/agenesis (low Ca) - ear hypoplasia - cardiac issuse (in decreasing order of frequency: Tetralogy > interrupted aortic arch > VSD > truncus)

Diagnosis of pheochromocytoma

24 hour urinary fractioned metanephrines - should NOT biopsy - could precipitate an adrenergic crisis - Abd CT may show mass but wouldn't tell you if it is functioning, so urine study is most diagnostic

Normal serum Osm

282 +/- 2

Serum osmolar gap formula

2xNa + BUN/2.8 + glucose/18 Note, if BUN and glucose are normal, 2xNa is a quick approximation

Osteogenesis imperfecta

4 types. All autosomal dominant defects in collagen Distinguish from abuse: OI won't cause retinal hemorrhage or subdural hematoma Type I - the mildest. Blue sclerae, delayed fontanelle closure, hyperextensible joints, hearing loss, normal stature, multiple fractures before puberty (diminish by adolescence) Type II - most severe. usually death in newborn period d/t respiratory insufficiency. Bones with crumpled appearance on xray. ribs beaded due to callus formation Type III - newborn will get multiple fractures. unable to ambulate b/c can't bear weight. Blue sclerae (but lighten with age, unlike type I), common to have neuro complications (hydrocephalus) Type IV - milder, sclerae usually white, will have fractures present at birth. classic finding is tibial bowing

Brain issues post-TBI

40% of post-TBI patients are found to have hypopit, most commonly GH deficiency Symptoms: - change in body composition (increased central fat, decreased lean muscle) - reduction in quality of life - decreased bone density

MERRF (Myoclonic Epilepsy and Ragged-Red Fiber Disease)

3 findings: - epilepsy - cerebellar ataxia - ragged-red fiber myopathy Begins late childhood to adulthood See myoclonic jerks at rest, increase with movement

Cleft palate inheritence

3-4% risk of siblings with cleft palate Highest rate in native americans, lowest in african americans

Oligoarticular JIA

4 or fewer joints involved during the first 6 mos of illness - Female:male 3:1 (esp if uveitis) - uveitis associated with +ANA --> should get Q3mos slit lamp

Management of elevated lead level

>5 ug/dL should prompt thorough history, looking for dietary and environmental exposures. Chelation indicated for level >45

Anti-Jo1

autoantibody associated with pulmonary fibrosis in patients with dermatomyositis or polymyositis Associated with poorer prognosis

Turner Syndrome

45X - phenotypically female - short stature, ovarian failure/gonadal dysgenesis - some have mosaicism with a Y chromosome, those are at risk for gonadoblastoma and require removal of the streak gonads - 50% will have cardiac issues - 99% of Turner fetuses abort in utero

Turner Syndrome

45X. 99% of fetuses are spontaneously aborted Birth manifestations: edema on dorsa of hands/feet, loose skin folds at nape of neck - 100% will have short stature - Cardiac: BAV, coarctation - Renal: horseshoe kidney, absent kidney - ovarian failure - the oocytes are rapidly depleted, gone by age 2. 10-20% will get breast development, some will get menses - Thyroid: anti-thyroid AB in 1/3 - Hearing: sensorineural hearing loss, recurrent b/l OM. - NORMAL INTELLIGENCE (but difficulty with math learning) Management: - hGH to increase final height - estrogen replacement at age 12 for bone health, pubertal maturation

Klinefelter Syndrome

47 XXY - get early intellectual disability and psych issues, but generally not diagnosed until puberty Puberty: get very tall, with small testes for age. Testes initially grow but then shrink. Will have normal pubic hair - get gynecomastia, breast ca risk is the same as for women Management: - should get testosterone starting age 11-12.

Klinefelter syndrome

47XXY - usually NOT associated with advanced maternal age - gynecomastia - tall - delayed secondary sex development

Polyarticular JIA

5 or more joints during the first 6 mos - Female:male 3:1 2 groups: RF negative and RF positive (usually adolescents) - RF positive group acts more like adult RA + RF is a poor prognostic finding, should be more aggressive with tx

Head circumference normals

50th percentile for full term infant: boy - 36 cm girl - 35 cm largest rate of growth is between 0 and 2 mos - will grow 0.5cm/week

Rules for positive TB tests

5mm - close contact - CXR or clinical evidence of of TB - immune suppressed 10 mm - any child younger than 4 - chronic underlying medical condition - high prevalence area - exposure to prisioners, homeless 15 mm - any average kid 4 or older

When should you start talking about poisoning prevention:

6 months!

Chemo side effects

6-MP - myelosuppression, hepatotoxicity ARA-C - myelosuppression, fever, systemic inflammation cyclophosphamide - hemorrhagic cystitis Doxo/Daunorubicin - cardiomyopathy Bleomycin - pulmonary fibrosis Vincristine - peripheral neuropathy Vinblastine - leukopenia L-asparaginase - pancreatitis, increased glucose, thrombosis Cisplatin - nephrotoxicity, ototoxicity, neurotoxicity Etoposide - secondary leukemia

Monitoring after treatment of bleeding peptic ulcer

72 hours in the hospital (if it was a bleeding ulcer) - risk of re-bleeding is highest in the first 72 hours

Williams Syndrome

7q11.23 microdeletion - periorbital fullness with prominent, down-turned lower lip - friendly cocktail party personality - stellate pattern of the iris - strabismus - supravalvular AS!! - hypercalcemia

FVC cut off for restrictive disease

80%

Use of FENa

<1% = prerenal >2% = ATN (except contrast-induced, which can be <1%)

Normal osmolar gap

<10

Normal 24-hour urine protein

<150 mg

Proteinuria amount consistent with interstitial renal disease

<1g/day

Joint fluid cell counts

<2000 WBC = noninflammatory 20-50,000 WBC = inflammatory 50-100,000 WBC with >75% PMNs = septic (or crystalline)

Surfactant administration

<28 weeks FiO2 >50% to maintain a PaO2 of 50 mmHg Also some older babies - hospital dependent

Definition of oliguria

<400 mL/day

Definition of anuria

<50 mL/day

Definition of tall stature

>2 standard deviations above the mean for height for age

Treatment of H pylori

>20% have treatment failure after first round of therapy - Should do test of cure >4 weeks after treatment is completed (test off of PPIs and H2 blockers) - If stool Ag test still positive, should re-treat - Assuming had triple therapy first, should progress to quadruple therapy - There are high rates of clarithromycin resistance

Definition of colic

>3 hours/day, >3days/week for at least 3 weeks Can often be associated with flatus, look like stomach pain Often occurs at night usually begins first week of life and resolves by 3-4 mos

Infections in sickle cell

At risk for encapsulated organisms: S pneumo, N meningitidis, H flu - Start PCN ppx as soon as possible after birth - ppx is only helpful until the age of 5

cardiac waves

A - atrial contraction C - RV contraction causing the tricuspid valve to bulge into the atrium X descent - atrial relaxation and rapid atrial filling V - ongoing atrial filling against the closed tricuspid valve Y - rapid emptying of the atrium after the TV opens Heart failure = large A and V waves Tricuspid stenosis = large A waves, slow Y descents (slow to empty the atrium d/t stenosis) Constrictive pericarditis = rapid x and y descents Cannon A waves = AV dissociation, the atrium is contracting against a closed TV

Diagnosis of cough-variant asthma

Can only confirm by resolution of symptoms after starting asthma therapy. A + methacholine challenge test is non-specific. Patients with cough-variant asthma will often have normal spirometry

Renal disease of rhabdo

Intrinsic renal disease with: - high urine Na - high FENa - pigmented casts Myoglobin leads to kidney ischemia and tubular obstruction

Zellweger Syndrome

A peroxisomal disorder Onset: birth to 1-2 years - get progressive loss of skills - will have hearing loss, vision loss, cataracts, large anterior fontanelle Xray: calcific stippling of patella and long bone epiphyses

Cryoglobulinemia

A small-vessel vasculitis Cryoglobulins: abnormal proteins that precipitate in the serum when chilled, dissolve when warmed. They increase the blood viscosity in cold temperatures Cryoglobulinemia can be mixed or monoclonal Mixed cryoglobulinemia: - 2/2 RF bound to monoclonal and polyclonal IgGs - STRONG associated with Hep C - Presents with PURPURA with vasculitis - GN common cause of death Monoclonal cryoglobulinemia: - usually 2/2 myeloma of Waldenstrom macroglobulinemia Viruses can cause either type

Jeune syndrome

A form of asphyxiating thoracic dystrophy - causes restrictive lung disease and decreased TLC - it is a skeletal dysplasia evident at birth (have short ribs, small thoracic cage, short limbs, and trident-shaped pelvis on xray

Non-Hodgkin Lymphoma general principles

A group of disorders with clonal proliferation of lymphocytes (B, T, or NK) - Manifestations and locations can vary - can be primarily blood based or lymph node based or both - Generally present with palpable adenopathy, B symptoms - diagnosis with EXCISIONAL node biopsy (or if leukemic primarily like CLL can get off of peripheral flow cytometry) - Staging with CT neck/chest/abdomen/pelvis. BMBx if cytopenias are present - After treatment, follow with PET scanning

BK virus after kidney transplant features

A late complication (not in the first few months) - Get BK-related nephropathy, organ rejection, ureteral strictures - Urine has "decoy cells," cells with intranuclear inclusions

Microscopic Polyangitis

A medium-artery vasculitis Causes a pulmonary-renal syndrome (as dose Wegener's and churg-strauss, NOT PAN) - necrotizing, crescentic GN - NO angiography findings Labs: p-ANCA

Polyarteritis nodosa

A medium-artery vasculitis Associated with hep B infection - Can affect all organ systems, including coronaries. Classically does NOT affect pulmonary vessels (distinguish from other vasculitis) Sxs: - anorexia, weight loss, fevers, malaise - abdominal pain (2/2 mesenteric involvement) - rashes (palpable purpura, livedo reticularis) Diagnosis: - angiogram - will see small, saccular aneurysms, often in abdominal system - if skin is involved, can diagnose off of skin bx Treatment: - treat Hep B if present - steroids PLUS cyclophosphamide - low (10-20%) 5 year survival if not treated

Minimal change disease

A primary kidney cause of nephrotic syndrome - 2/2 T cell dysfunction that results in fusion of the podocytes to the glomerular capillary walls --> leaky membrane, significant proteinuria - Associated with drugs (lithium, NSAIDs, sulfa), lymphoma, and contact allergies - Get acute nephrotic syndrome w/o HTN - Urine sediment with oval fat bodies with MALTESE CROSSES under polarized light -Renal bx is normal. See loss of podocytes on EM - Treat with steroids, cyclophosphamide, cyclosporine - has the best prognosis of the nephrotic syndromes

Membranous nephropathy

A primary kidney cause of nephrotic syndrome - Can be 2/2 solid tumors, chronic hep B, NSAIDs, autoimmune diseases - Get gradual nephrotic syndrome, 50% have red cells without red casts in the urine - renal bx with GBM subepithelial IgG and C3 deposits - EM with subepithelial "dense deposits" on the GBM with loss of podocytes - worse prognosis in men

FSGS

A primary kidney cause of nephrotic syndrome - most common idiopathic nephrotic syndrome in African Americans - Associated with HIV, heroin use, obesity, sickle cell, chronic VUR - have loss of foot processes (like MCD) but also sclerosis in segments of the glomeruli - 50% of patients are hypertensive (no HTN in MCD) - get slow, progressive renal failure - treat with steroids, cyclosporine

Medulloblastoma

A primitive neuroectodermal tumor - most common malignant CNS tumor of childhood - occur in the posterior fossa (infratentorial) Symptoms: morning HA, vomiting, lethargy, ataxia

Adenylate Deaminase Deficiency

A purine disorder Presentation: - muscle weakness and cramping after vigorous activity - may have increased CK but won't have myoglobin - muscle biopsy will be normal To diagnose, have to get histochemical staining

Henoch-Schonlein Purpura

A small vessel vasculitis - IgA mediated - rash from waist down - kidney involvement - GI involvement Usually in kids, 2/3 cases associated with viral URI or strep Diagnosis: IgA in skin biopsy Usually resolves spontaneously but can cause renal failure

Goodpasture syndrome

A small vessel vasculitis - involves lungs and kidneys: suspect with rapidly-progressive pulmonary-renal syndrome Presents with: - hemoptysis/acute pulmonary hemorrhage (increased DLCO on PFTs) - rapidly progressive GN Labs: -p-ANCA (Wegener's is c-ANCA) -anti-GBM (different from Wegener's)

Amyloidosis renal disease

A systemic cause of nephrotic syndrome - Causes light chain nephropathy - congo red stain causes "apple-green birefringence" of the glomeruli

Diabetic nephropathy

A systemic cause of nephrotic syndrome - most common cause of 2/2 nephrotic syndrome in adults - Renal biopsy with expansion of the mesangium, thickening of the GBM, and sclerosis of the glomeruli (Kimmelsteil-Wilson lesion) - screen with urine microalbumin. generally do not need biopsy

Myotonic Dystrophy

A trinucleotide repeat disease - autosomal dominant (but age of onset and severity vary) - get myotonia (muscles don't relax well), progressive weakness/wasting - it is more severe if inherited from the mother

Constitutional growth delay

A variant of normal growth - normal growth for 4-12 mos, then slows down, then picks back up - commonly runs in families - bone age will be delayed - don't need to treat, children will end up normal adult height

Osteochondroma

BENIGN bone tumor - most asymptomatic and never recognized - metaphysis of long bones (distal femur, proximal humerus, proximal tibia) - can present as bony, NONpainful mass. Xray: a stalk or broad base projection extending from the surface of the bone - 1% can transform to malignant chondrosarcoma

Drugs that can cause chronic rhinitis

ACEi ARB gabapentin NSAIDs phosphodiesterase inhibitors

Causes of non-gap acidosis

AKA hyperchloremic acidosis Bicarb losing states (diarrhea, RTA) Ingestion of organic acids (carbonic anhydrase inhibitors) TPN

Types of small vessel vasculitis

AKA leukocytoclastic vasculitis - Drug reactions (most common etiology, 1-10 days after drug is started) - viruses - Autoimmune (SLE, RA) - HSP - cryoglobulinemia - Goodpasture Common features - small vessel involvement - skin involvement - leukocytoclasis (PMNs in the vessel walls) - palpable purpura

Craniofacial Syndromes

ALL AUTOSOMAL DOMINANT Treacher-Collins Waardenburg syndrome I Stickler syndrome with Pierre Robin sequence Crouzon syndrome Apert syndrome Cleidocranial dysostosis

Chromosome instability syndromes

ALL AUTOSOMAL RECESSIVE - Ataxia telangiectasia - ataxia, scleral telangiectasias, frequent infections, malignancies - xeroderma pigmentosa - photosensitivity, skin atrophy, pigmentary changes, malignancies - Bloom syndrome (picture)- IUGR, microcephaly, malar hypoplasia, facial telangiectasia, malignancies - Fanconi anemia - pancytopenia, hypoplastic thumb and radius, hyperpigmentation, abnormal facial features

Osteoid Osteoma

BENIGN tumor - usually males, ages 5-20 Classic presentation: unremitting, worsening pain, worse at night, relieved with aspirin - commonly in proximal femur and tibia

Craniopharyngioma

BENIGN tumor suprasellar Can be locally invasive, affect the optic chiasm, carotid arteries, pituitary stalk tx surgery + radiation

Auer rods

AML

Chronic benign neutropenia

ANC persistently 200-1500 - get mild skin and mucous membrane infections - can be inherited or sporadic

Churg-Strauss

ANCA-associated focal necrotizing glomerulonephritis - have allergic asthma, followed by vasculitis - associated eosinophilic infiltrates and peripheral blood eosinophilia

Rapidly progressive glomerulonephritis

ANY form of GN that is rapidly progressive (days to weeks) - MUST have the hallmark subepithelial crescent Labs: - creatinine usually >3 - urine with protein, red cells, red casts Four types, based on cause: 1. anti-GBM disease (goodpastures or idiopathic) 2. immune complex disease (IgA, post-infectious, lupus, cryoglobulins) 3. pauci-immune (no immune deposits) --> often with + ANCA, found to be Wegener's or microscopic polyangitis 4. Double antibody disease --> has features of #1 and #3 Treat empirically with high dose steroids, then cyclophosphamide, maybe plasmapheresis

Legg-Calve-Perthes disease

AP films will look normal - frog leg films with obvious abnormality of the femoral head Can be a late-complication of reactive arthritis

management of abnormal pap

ASCUS --> if HPV neg, repeat 1 year, if HPV+ could do colpo-guided bx LGSIL or HGSIL --> colpo-guided punch bx any visible cervical lesion, regardless of pap result, should be biopsied biopsies can come back with CIN or invasive. If CIN I, may resolve spontaneously. CIN II/III require treatment Treatment is ablative therapy (LEEP, etc), then f/u with repeat bx in 6 mos. if f/u is neg, go back to regular screening Invasive cancer gets surgery, radiation, chemo

Maple Syrup Urine Disease

AUTOSOMAL RECESSIVE Defect in decarboxylation of ketoacids (ketoacids smell sweet) Presentation: CNS disease early in infancy and urine that smells like maple syrup. Diagnosis: increased leucine, isoleucine, and valine in the plasma and urine Treatment: dietary control of leucine, isoleucine, and valine

Phenylketonuria

AUTOSOMAL RECESSIVE Presents as an intoxication - lacking phenylalanine hydroxylase, cannot convert phenylalanine into tyrosine - get high phenylalanine in the blood and high pheylpyruvic acid in the urine - high phenylalanine is toxic to the CNS, damage is irreversible by age 8 weeks Presentation: vomiting, irritability, eczematoid rash, peculiar odor (musty). Often in fair haired/fair skinned children. If untreated, get IQ<30 Workup: - If newborn screen is positive, get phenylalanine and tyrosine levels Treatment: diet low in phenylalanine. Need enough for normal growth, so must monitor levels

ITP (immune thrombocytopenic purpura)

AUTOimmune, IgG antibody directed against the platelets - kids or adults (usually after viral illness in kids) - chronic ITP is usually in adults, and has relapsing course Etiology: 30-30-30-10 - 30% idiopathic, 30% drugs, 30% underlying disease, 10% virus - underlying diseases: CLL, lymphoma, lupus (same as autoimmune hemolytic anemia) Diagnosis: of exclusion. First repeat the plt count, then look for clumping on the smear. ITP smear will show: few, giant platelets, with normal reds and whites. Treatment: only if symptomatic or plts very low - First line: steroids - Second line: IVIG (more rapid effect than steroids) Splenectomy indications (2/3 will have complete response, but some will relapse after): - no response to steroids - frequent relapses - unable to taper steroids in 3-6 mos

Growing pains

BILATERAL - late in the day or evening - often awaken from sleep - NO limping/mobility problems

CPPD crystals

BLUE - positively birefringent

Chronic Mesenteric Ischemia features

Abdominal pain after eating that leads to weight loss Diagnose with MR or CT angiography

Diagnosis of carotid artery dissection

Abrupt onset cervical pain and Sxs of Horner's syndrome (ptosis, miosis). Can also get amaurosis fugax, retinal infarction, diplopia, other stroke Sxs. Dissection can occur spontaneously, but usually has traumatic cause (cervical manipulation at chiropractor).

Contraindications to sports participation

Absolute contraindication to participation: a fever. Increases risk of exertional heat illness Other factors - single ovary is not a contraindication, very uncommon to get ovarian damage - a well controlled sz d/o is not a contraindication, but coaches should know about it - hypertension (>99th percentile) should restrict from weightlifting/high static exercises - A cardiac murmur that decreases with standing is innocent (increases with standing is HOCM)

Contraindications to renal transplant

Absolute: - active or recurrent infection - uncontrolled malignancy Relative: - Age >70 Do NOT have to be on HD for xplant. Also, HTN ok as long as it is controlled

Monotherapy for hypertension

Acceptable choices: - thiazide - ACEi/ARB - CCB African americans do better with thiazide or CCB Young patients do best with ACEi If initial BP is >160/100, should start two drugs (try ACEi + CCB)

contraindication to breast feeding

Active, untreated tuberculosis NOT acute rubella, or recent MMR vaccine

Use of BMI in WCC

BMI >85% indicates child moving towards obesity, and increased risk of adult diseases - should document BMI at each visit.

Pediatric definition of hypertension

BP >95th percentile for age/gender/height on THREE separate occasions

Resistant Hypertension

BP above goal despite optimal doses of three antihypertensives, including a diuretic If resistant HTN with CKD on HCTZ, change to loop diuretic. Those patients tend to be volume overloaded.

Pheochromocytoma features

Causes sustained or paroxysmal hypertension, diaphoresis, headache, and anxiety. Can get surge in BP with anesthesia 2/2 catecholamine release (mostly norepinephrine) Diagnose with plasma metanephrines

Acute gout treatment

Acute: - ice packs - intraarticular steroids (if only 1 or 2 joints) - NSAIDs (or colchicine if contraindicated) Avoid: - diuretics and nicotinic acid, both increase UA levels - esp avoid thiazides in elderly females

Acute vs chronic leukemia

Acute: maturation arrest (no mature cell lines, lots of blasts) Chronic: overproduction of cell line, but cells are mature, not blasts

Cancer of unknown primary

Adenocarcinomas: - women with axillary nodes: treat as stage II breast ca - women with peritoneal carcinomatosis or ascites: treat as stage III ovarian ca - men with blastic bone mets or elevated PSA: treat as prostate ca Poorly differentiated carcinomas: - treat as stage III germ cell tumor (especially with elevated LDH/AFP/hCG) Neuroendocrine tumors: - all treated the same, primary site isn't particularly important

Choice of stress imaging study

Adenosine = contraindicated in bronchospastic disease Dobutamine --> safe for COPD/asthma etc.

Adrenoleukodystrophy

Adrenal cortex deficiency WITH demyelination in the CNS - associated with very high levels of very long chain fatty acids - presents as a degenerative neurologic disorder (adrenal symptoms often precede this) - Board question: teenage boy with new-onset clumsiness - get LCFA levels X-linked

Pyruvate Kinase Deficiency

Affects the glycolytic pathway Can get hemolytic crisis even WITHOUT an oxidative stress (unlike G6PD)

Pneumonia vaccines for the high risk

After full PCV13 series, should get the 23 valent vaccines at 2 and 7 years old If high risk and never had PCV13, an give one dose of PCV13 to 6-18 year olds.

Volkmann contracture (of the wrist)

After supracondylar fx of the elbow, can get compartment syndrome 2/2 brachial artery injury - over time, get ischemia leading to contracture of the wrist and fingers - suspect with hx elbow injury and refusal to extend fingers d/t pain

Rheumatoid arthritis demographic features

Age of onset 40-50 Women:men 3:1 only some patients develop destructive arthritis

Treatment of pinworms

Albendazole (mebendazole no longer produced) - may need repeated doses to fully treat.

Effect of albumin on anion gap

Albumin main determiner of anion gap Low albumin = falsely low anion gap 2.5 mEq/L decrease in AG for every 1 g/dL decrease in albumin

Uric acid stone treatment

Allopurinol

Treatment of uric acid stones

Allopurinol +/- urinary alkalinization

Athlete's heart definition

Athletes get concentric LVH TTE shows LVH but enlarged heart cavity (vs hypertrophic CM with small cavity)

BRCA genes

BRCA 1 - 50-85% lifetime risk of breast ca (50% chance before age 50) (12% general population) - 40% risk of ovarian cancer (1.5% general population) - also increased risk of colorectal and prostate ca BRCA 2 - same breast ca rates -10-20% risk ovarian ca - also increased risk of melanoma, pancreatic, and prostate

Management of renal dz in Alport syndrome

Alport: x-linked, affects basement membranes d/t collagen protein synthesis defect Get sensorineural hearing loss, ocular abnormalities, and kidney disease Kidney failure typically in the second or third decade of life Renal xplant is the therapy of choice - does NOT recur in the transplanted kidney

Diagnosis of fulminant Wilson dz

Always suspect in young patient with acute liver failure - Associated with hemolytic anemia - Will have LOW alk phos (excessive copper binds zinc, and zinc is needed to make alk phos, so can't make AP) Treatment is liver xplant

Disorders of the urea cycle

Ammonium should be broken down in the liver - one of many enzyme deficiencies can lead to ammonia accumulation - Presents as an intoxication (high ammonia leads to brain edema) - Most common type is ornithine transcarbamylase deficiency (OTC deficiency) - OTC deficiency is X-linked, all others are AR! Presentation: - respiratory alkalosis (uncommon, would expect metabolic acidosis with metabolic issues) - suspect with high ammonia but little liver dysfxn and no ketoacidosis - work up with quantitative plasma and urine organic acids. Citrulline level will be LOW if the urea defect is proximal in the cycle (OTC and CPS). - OTC vs CPS: both have low citrulline, OTC will have elevated urine orotic acid level

Prerenal AKI labs

BUN:Cr ratio increased Urine concentrated (Osm >700) Urine Na <20 (indicates normal tubular function, Na is being reabsorbed to increase glomerular pressure) FENa <1%

Kidney effect of amphotericin B

Causes type I RTA by causing distal tubular injury

X-linked Sideroblastic Anemia

An erythropoietic porphyria results in ineffective erythropoiesis and weakness Presentation: infant boy (x-linked) with refractory hemolytic anemia, pallor, and weakness Bone marrow: hypercellular marrow with megaloblastic erythropoiesis and sideroblasts

Light's criteria

An exudate if: 1. pleural protein:serum protein >0.5 2. pleural LDH > 2/3 upper limit of normal Less accurate if the fluid is transudative but the patient is being diuresed. In that case, transudative if: 1. serum to pleural albumin gradient >1.2 2. serum to pleural protein gradient >3.1

Management of neurogenic pruritis

An itch without associated rash - concern for underlying systemic or neurologic cause Think of malignancy, cholestatic liver disease, CKD, thyroid dz, low iron, opiates, and HIV infection. Should check CBC, chemistry, Fe, and TSH.

Most common hypoproliferative anemia

Anemia of chronic disease Get decreased EPO levels and impaired iron utilization (NOT Fe deficient)

Recommendations for microalbumin testing

Annually in patients with: - DM I starting 5 years after diagnosis - DM II starting at diagnosis Measure by getting albumin-creatinine ratio

Ependymoma

Arises from the ependymal lining of the ventricular system - 75% are posterior fossa - Symptoms often d/t blockage of the 4th ventricle - surgery and radiation, chemo not helpful

Juvenile Psoriatic Arthritis

Arthritis AND psoriasis OR Arthritis + 2 of the following (dactylitis, nail findings, FHx psoriasis_ - DIP arthritis is common (compared to other JIA) - arthritis can precede psoriasis findings by many years

Post-MI ruptures

Anterior MI: rupture the septum or the free wall Inferior MI: rupture the papillary muscle

Management of frontal sinus fractures

Anterior: observation Posterior: prompt N/S evaluation

Bioterrorism agents

Anthrax - can cause a pneumonia but is NOT contagious The plague (Yersinia pestis) causes a necrotizing PNA that is infectious

Anthrax vs plague pneumonia

Anthrax: widened mediastinum. Not contagious via respiratory secretions Plague: hemorrhagic PNA, contagious

Antiphospholipid Antibody Syndrome

Antibodies include: lupus anticoagulant, anticardiolipin, and beta 2 glycoprotein I. can test for anticardiolipin and B2. Lupus anticoagulant has to be detected with long PTT and mixing study that does not correct - Antibodies are acquired, and associated drugs or disease states (lupus, malignancy) Clinical findings: - history of thrombosis (arterial or venous) - miscarriage at >10 weeks - hx of preeclampsia, eclampsia, or placental insufficiency - 3 or more SAB at <10 weeks Labs: will have prolonged ptt - prove with any of the above antibodies, must detect at least twice 12 weeks apart Treatment: indefinite warfarin

Heparin and hair loss

Anticoagulants (esp LMWH) can contribute to telogen effluvium - will see hair loss beginning a few weeks after exposure Other drugs associated with this: OCPs, isotretinoin, AEDs, lithium, beta blockers, ACEi

Treatment of acute urticaria

Antihistamines: H1 and H2 together more effective than either alone - use Zyrtec + Zantac

Aplastic anemia vs pure red cell aplasia

Aplastic anemia: defect of pluripotent stem cells - get PANcytopenia. Often autoimmune, or triggered by infection, drug, toxin Pure red cell aplasia: ISOLATED anemia, absent red cell precursors in the marrow.

Fungal infection after transplant

Aspergillus is the most common cause of invasive fungal infection after transplant, esp lung and stem cell - Infection is typically in the lungs, presents with fever, dry cough, hemoptysis, chest pain - Can disseminate to the brain Treat with Voriconazole

Management of a sellar mass

Assess for hormone hypersecretion --> IGF-1, morning cortisol, thyroid studies, and PRL Sxs of hyperprolactinemia (in a male): testosterone deficiency, leading to diminished libido and ED. If diagnose prolactinoma, use dopamine agnoist to reduce PRL level and tumor size.

Nasopharyngeal carcinoma

Associated with EBV infection, prior radiation, and China - often associated with paraneoplastic syndromes (clubbing, FUO, SIADH)

Hepatocellular carcinoma

Associated with Hep B only 1/3 are resectable - 1/2 have elevated AFP, 1/3 have cirrhosis

Cryoglobulinemic vasculitis

Associated with Hep C (also MM, CTD, Waldenstrom macroglobulinemia) Manifests as palpable purpura on the lower extremities Diagnose: cryoglobulins in the serum Labs: low C4, elevated RF Skin bx: leukocytoclastic vasculitis

Pediatric pancreatic tumors

Associated with MEN I: insulinoma, gastrinoma (Zollinger-Ellison syndrome, refractory gastric ulcers) Tumors of the exocrine pancreas are rare in childhood

Restless Leg syndrome

Associated with iron deficiency - should check Fe studies when diagnosing - Diagnose with history, can get sleep study and anterior tibial EMG - if ferritin is low, iron supplementation will improve symptoms in 90% of children

9p- deletion

Associated with trigonocephaly (triangle-shaped head)

Management of metastatic carcinoid

Asymptomatic patients with indolent, well-differentiated metastatic carcinoid tumors can be managed with expectant observation and serial imaging studies.

Cholesterol screening

At least once ages 9-11, then again ages 17-21 In other age ranges, should check if bad family history or the child is obese, hypertensive, or diabetic If non-HDL cholesterol >145 or HDL<40, should get TWO fasting lipid panels and average them Indications for meds: - age >10 with LDL>190 not responding to 6 mos of lifestyle changes - or, LDL 130-190 with other risk factors

Alopecia areata

Autoimmune dz with well-defined, round, smooth area of hair loss Abrupt onset in young, otherwise healthy people Affected area lacks inflammation or scale See exclamation point hairs around the periphery Often with personal or family history of autoimmune disease

Evan syndrome

Autoimmune hemolysis + ITP

Spherocytes

Autoimmune hemolytic anemia Hereditary spherocytosis

types of bone marrow transplants

Autologous = your own marrow Allogenic = someone else's marrow Syngeneic = your twin's

Cornelia de Lange syndrome

Autosomal dominant - IUGR, short stature - microcephaly - hirsutism - heart defects - low hairline - long eyelashes - thin upper lip - low set ears

Holt-Oram Syndrome

Autosomal dominant - radial ray abnormalities (triphalangeal thumb) - ASD and other congenital heart diseases

Diamond-Blackfan syndrome

Autosomal dominant - triphalangeal thumb - radial hypoplasia - congenital heart defects

Tuberous Sclerosis

Autosomal dominant Ash leaf/hypopigmented spots, better seen with Wood's lamp (cafe au lait is NF1) Shagreen patches (oval-shaped nevoid plaque) - cortical tubers and subependymal nodules - renal angiomyolipomas - 50% of infants have cardiac rhabdomyomas, many regress. Infants with infantile spasm have 50% chance of having underlying tuberous sclerosis.

Benign Familial Hematuria (thin BM disease)

Autosomal dominant - multiple family members have hematuria and RBC casts but no history of renal failure - Biopsy with very thin BM - affects kidney only (unlike Alport) and has no longterm consequence

Liddle Syndrome

Autosomal dominant d/o - early onset hypertension - metabolic alkalosis - hypokalemia - low renin & aldosterone 2/2 mutation of Na channel in cortical collecting duct

Hereditary Spherocytosis and Elliptocytosis

Autosomal dominant, seen in Northern Europeans - problem of the RBC cytoskeleton - loss of membrane flexibility, get chronic hemolysis - Get cholelithiasis (2/2 hemolysis) and splenomegaly. - May required splenectomy Diagnose with osmotic fragility test followed by molecular membrane studies to confirm

Dubowitz Syndrome

Autosomal recessive - IUGR - ptosis - eczema - behavioral/developmental disorders

Thrombocytopenia absent radius syndrome

Autosomal recessive - Thrombocytopenia - absent radius - NORMAL thumbs - petechiae

Fanconi anemia

Autosomal recessive - pancytopenia - hypoplastic thumb and radius - hyperpigmentation - abnormal facial features

Factor XIII deficiency

Autosomal recessive get severe bleeding, poor wound healing d/t inability to cross-link fibrin strands labs NORMAL diagnosis: specialized clot lysis assay (urea is able to dissolve the clot, which is otherwise impossible) Treatment: FFP every 3-4 weeks.

factor XI deficiency

Autosomal recessive (unlike X-linked recessive hemophilia) Much less common than hemophilias Mutations vary, dictate risk of bleeding. common in ashkenazi Jews - Presents with mucosal bleeding - manage bleeding with FFP, factor XI, or DDAVP

Chronic interstitial nephritis

Causes: - renal outlet obstruction - drugs (chronic analgesic use, cisplatin, cyclosporine) - heavy metals - Sjogren - Sickle cell Chronic analgesic use = papillary necrosis

Digoxin toxicity

Can cause nearly every rhythm abnormality - must have high index of suspicion - Can also get nausea, anorexia, fatigue, vision changes, mental status changes - If ECG with A fib but regular ventricular rate, worry about complete AV block with junctional/ventricular escape beats - could be 2/2 high dig. - high levels can be 2/2 decreased renal clearance

Pheochromocytoma as a cause of hypertension

Can cause paroxysmal OR sustained hypertension - Associated with MEN IIa and IIb - 10% bilateral, 10% malignant, 10% familial Diagnose with 24H urine metanephrine and catecholamines. If labs +, get CT or MRI of the abdomen looking for tumor if imaging negative, can get MIBG scintigraphy (NE analog that concentrates in the adrenals)

Multiple Myeloma clinical features

B cell neoplasm, get clonal expansion of plasma cells - the plasma cells produce a monoclonal protein (intact immunoglobulin or fragments of heavy or light chains) - note Waldenstrom macroglobulinemia is a B cell lymphoma releasing IgM, and is different than myeloma Sxs: - bone pain --> tumor cells invade the bone, see lytic lesions on xray. Commonly leads to fractures - infections --> d/t diffuse hypogammaglobulinemia (lots of immunoglobulin but aren't working normally) - renal failure - hypercalcemia, anemia Can get hyperviscosity

Common Variable immunodeficiency

B cells cannot differentiate to immunoglobulin-secreting stage - get lymphoid hyperplasia and splenomegaly - commonly get GIARDIA infections - Low IgG, IgA, and IgM - Tx: IVIG

A vegan diet puts you at greatest risk for what deficiency

B12 (almost exclusively in animal products)

Sulfasalazine and infertility

Can cause reversible infertility in men (drops sperm count). Stopping the med will allow sperm count to return to normal.

Hydroxyapatite Arthropathy

Basic calcium arthropathy/calcium apatite deposition disease - Get abnormal accumulation of hydroxyapatite (the mineral in bone and teeth) either idiopathic or 2/2 hypercalcemia/hyperparathyroidism Clinical features: - elderly women - very destructive arthropathy of the shoulders (Milwaukee shoulder), can also involve hips, knees, hands - noninflammatory synovial fluid - no visible crystals Diagnosis: HAA crystals in the joint fluid (very small, nonbirefringent, need EM or special staining to see them) Treat: same as for acute CPPD, if on HD controlling phosphorus can help

Causes of direct hyperbili in infancy

Biliary atresia Choledochal cyst cholestasis neonatal hepatitis metabolic issues CF Congenital infection

Asbestos-related lung issues

Benign asbestos pleural effusions: immune-mediated, show up in 5-10 years Mesothelioma, Asbestosis take 20-30 years to appear

Fructokinase deficiency

Benign, no manifestations, doesn't require treatment Can incidentally find fructose in the urine

Patterns of lung nodules

Benign: - smooth borders - calcification that is: popcorn, lamellar, central, or diffuse Malignant: - spiculated - calcification: eccentric, off-center

Weight gain in normal child

Birth weight regained by DOL 10-14 Birth weight doubles by 4 mos Birth weight triples by 12 mos Birth weight quadruples by 24 mos After age 2, normal weight gain is 5 pounds/year until adolescence

Polymyalgia rheumatica vs giant cell arteritis

Body pain PLUS vision complaints = polymyalgia rheumatica WITH giant cell, esp if elderly patient

Considering treatment of precocious puberty

Bone age is most helpful. Endeavor to find out not whether it is happening (would get labs) but whether it will limit final height (thus get bone age)

Anticoagulants in kidney disease

Both Lovenox AND fondaparinux are contraindicated in advanced kidney disease

Mid parental height calculation

Boys: (paternal + [maternal + 13 cm]) / 2 Girls: (maternal + [paternal - 13 cm]) / 2

ACEi/ARB use

Can cause rise in serum Cr, or uncover previously undetected kidney dysfunction Both meds decrease GFR by their mechanism of action, thus increasing the Cr. Not necessarily an indication to stop therapy.

Congenital malformations of the lungs

Bronchopulmonary sequestration: lung tissue has systemic arterial blood supply, no bronchial communication, CXR looks like lower lobe mass or cysts Congenital lobar emphysema: idiopathic hyperinflation of 1 or more lobes Congenital pulmonary airway malformation: dysplastic lung tissue

Gitelman Syndrome

See: - hypokalemia - metabolic alkalosis - NO HTN (like in Liddle) Defect in the Na/Cl cotransporter in the early distal tubule - labs look like thiazide diuretic PLUS magnesium wasting (not understood)

Burr cells vs spur cells

Burr cells (echinocytes) - projections are evenly dispersed - have blunt ends - are uniform in size Spur cells (acanthocytes) - projections are irregularly spaced and sized - are thorn-like

Viral arthritis

Can cause true infection (aseptic arthritis) or reactive arthritis Parvovirus B19 is a common cause: young adult female with school-aged children who has symmetric synovitis of the hands (kids will have been sick 1-2 weeks earlier) Other causes: Rubella, mumps, acute hep B, chronic Hep C, enteroviruses

Management of fever in 1-3 month old

Can d/c home and f/u in 24 hours if: - unremarkable exam - normal CBC - negative UA

Children on vegan diets

Can get sufficient calories if eating good variety - Need to intentionally need to eat more iron and B12 - plant protein is less digestible but soy is a good substitute - leafy greens have lots of calcium, so Ca uptake not a concern

Hypersegmented PMNs

Seen in megaloblastic anemia

Spherocytes

Seen in: - autoimmune hemolytic anemia - hereditary spherocytosis

Anti-GBM disease

Can have isolated renal dz or Goodpasture dz with pulmonary hemorrhage - most common in young men - get acute nephritis progressing to renal failure over weeks Labs: - 90% with anti-GBM Ab in the serum - renal bx with crescentic nephritis and linear deposits of IgG and C3 - NORMAL complement Treatment: plasmapheresis

Antiepileptics in Asian patients

Can have the HLA-B1502 allele, associated with increased risk of Stevens-Johnson with: carbamazepine, lamictal, oxcarbazepine, and phenytoin. Must do genetic testing before using these It is safe to start Keppra w/o testing.

Cell markers

CD 33 and CD 117 = myeloid CD 19 = immature lymphoid TdT = pre-B, pre-T, and ALL cells

hairy cell leukemia marker

CD11c

What to suspect with recurrent rectal prolapse

CF! The presenting symptom in up to 1/3 of patients

What to test in patient with meningiococcemia

CH50 (or CH100) - looking for terminal complement deficiency

Colchicine drug interactions

CLARITHROMYCIN. P450 problem. avoid

BCR-ABL association

CML

Caput

CROSSES suture lines Edema in the soft tissue 2/2 force of labor

Retinoblastoma

Can be sporadic or hereditary (familial cases multifocal and bilateral) Presentation: white pupillary reflex, can also present as strabismus Treatment: Unilateral: enucleation if the vision can't be saved. Small tumors can be treated with laser or cryotherapy. Large tumors treated with chemo Bilateral: chemo in an attempt to preserve vision.

Neurofibromatosis 1

Cafe au lait spots and benign cutaneous neurofibromas (nerve sheath tumors, collection of Schwann cells) - 50% are sporadic or de novo autosomal dominant - cafe au lait spots appear in first 2 years of life - axillary freckles, occur by adolescence - Lisch nodules (benign iris hamartomas) Other syndromes with cafe au lait spots: McCune-Albright, Russell-Silver

Lupus renal disease

Can cause almost anything (nephritic or nephrotic) - Often causes nephritic syndrome with low complement

Manifestations of HSV

Can cause erythema muliforme Usually follows an acute infection with HSV Rash is red plaques with rings of color, usually on hands/feet

Renal artery embolization

Can occur in A fib, clot to the renal artery causes acute infarction Will see flank pain, fever, leukocytosis (looks like pyelo) but UA with no white cells LDH will be up

Determining RTA vs diarrhea as cause of non-gap acidosis

Calculate the UAG + UAG = RTA - UAG = diarrhea

Bloody diarrhea with recent exposure to dogs in a kennel is:

Camyplobacter You TREAT this to shorten illness duration and prevent relapse - use erythromycin or azithromycin

Teratoma

Can be benign or malignant Generally a mix of different tissues that arise from pluripotent stem cells - usually arise in sacrococcyx, ovaries, testes, or anterior mediastinum - can have hair, teeth, other odd things in them - Can resect, chemo if path shows any malignancy - highest risk for malignancy is an infant with a sacrococcygeal teratoma

Diagnosis of anthrax

Can be inhalational - spores in the soil. Get prodromal flu-like state, then develop rapid sepsis CXR: wided mediastinum and bloody pleural effusions Diagnose: organism by PCR in blood or sputum

Normal female puberty

Can start ages 6-8 1. Breast bud (ages 10-11) 2. pubic hair (6-12 mos later) 3. Peak height velocity at breast stage 2-3 (age 11-12) - ALWAYS precedes menarche 4. Menarche usually 2-2.5 years after breast bud, avg age 12.5, at breast stage 4 (if early, must investigate) 5. After menarche, have about 3 more inches of growth Delayed puberty: no secondary sex characteristics after age 13, or >5 years from beginning to end

Eosinophilic fasciitis

Causes skin changes consistent with Scleroderma, but usually spares the hands - can occur after vigorous exercise or can be paraneoplastic - tender, migrating edema OR polyarthritis of the hands - different from scleroderma: no Raynaud's, and preceding vigorous exercise. Also, normal nailfold capillaries - usually associated with peripheral eosinophilia and increased ESR - skin biopsy: eosinophilic infiltrate Tx: steroids, MTX

Extraarticular manifestations of RA

Cardiac: pericarditis, myocarditis, rheumatoid nodules of the valves, atherosclerosis (3x increased risk of CAD) Renal (rare): amyloid disease, drug-related disease Lungs (more in men): exudative pleural effusions, interstitial fibrosis Vasculitis: c/w PAN, get nailfold infarcts Nerves: mononeuritis multiplex, manifests as foot or wrist drop. Also get carpal tunnel Eyes: episcleritis, scleritis, sicca Skin: Rheumatoid nodules - indicates potential for more severe disease, usually on extensor surfaces Blood: anemia of chronic disease, neutropenia

Case control vs cohort studies

Case control: how likely it is that patients with a disease were exposed to a factor (vs the controls that were exposed but don't have it). - allows for study of multiple risk factors Cohort study (comparison of group with known exposure to those without exposure) - can be prospective or retrospective - loss of f/u is a problem - not good for long latency or rare conditions

Lung manifestations of systemic scleroderma

Cause of death is often pulmonary hypertension: - in limited, get intimal proliferation without inflammation - in diffuse, get alveolitis and pulmonary fibrosis Can treat with cyclophosphamide

Normal tooth development

Central incisors by 6-12 mos (fall out 6-10 years) First molars 12-19 mos (fall out 9-11 years)

Treatment of DI

Central: DDVAP Nephrogenic: low sodium diet, thiazide, indomethicin

Symptoms of infratentorial lesion

Cerebellum and below - problems with coordination - cranial nerve dysfunction

Compressive cervical myelopathy

Cervical cord compression can cause acute leg weakness without other symptoms (neck pain, a sensory level, bowel/bladder impairment)

Myoclonic Seizures

Characteristics: - short duration - rapid, bilateral, symmetric muscle contractions - isolated or repetitive jerks - increased likelihood of the patient falling Associated with other seizure types as well, also with progressive neurodegenerative genetic diseases

Morquio Syndrome (MPS IV)

Characteristics: - short-trunk dwarfism - fine corneal deposits - skeletal dysplasia - normal intelligence Present in 1st year of life with severe skeletal dysplasia, but are not otherwise dysmorphic

Patient with anterior uveitis requires w/u for systemic disease with:

Chest xray first, looking for sarcoidosis. Secondary w/u: HLA-B27, ANCA, RPR Worried for spondyloarthritis, sarcoidosis, Behcet, JIA, Wegener's.

Treatment of candidemia in infants

Choices: fluconazole or Amphotericin B caspo/micafungin data limited in neonates, only would use as second line

Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Cholestatic liver disease and retinopathy with hypopigmentation (not seen in very long or medium)

Opiate-induced secondary hypogonadism

Chronic opiate use can lead to secondary hypogonadism. Thought to be central. Downregulation of GnRH --> decreased FSH and LH --> testosterone

Most common myeloproliferative disorders

Definition: clonal malignancy of early hematopoietic stem cells. Over produce mature granulocytes, erythrocytes, or platelets (unlike acute leukemia, where they don't develop far enough to be mature) - CML - essential thrombocythemia - polycythemia vera - agnogenic myeloid metaplasia (aka myelofibrosis) JAK-2 mutations generally found with these, especially polycthemia vera, ET, and AMM

Laxative abuse findings

Chronic diarrhea --> normal anion gap metabolic acidosis Colon bicarb loss > acid (ammonium) excretion by the kidney

Complex molecule defects

Chronic, progressive, usually not present at birth. Symptoms d/t build up of large molecules in cells Include: - Lysosomal Disorders (Gaucher, Niemann-Pick, Tay-Schs, Fabry, Mucopolysaccharidoses) - Peroxisomal storage diseases (Zellweger, X-linked adrenoleukodystrophy) - Intracellular trafficking and processing defects (Menkes, Wilson, hemochromatosis, alpha1 antitrypsin) - Inborn errors of cholesterol synthesis (Smith-Lemli-Opitz, Tangier, apolipoprotein E deficiency)

chemo agents that cause peripheral neuropathy

Cisplatin (also ototoxicity and nephrotoxicity) Vincristine (also a vesicant and causes constipation) Vinorelbine (also a vesicant and causes constipation) Paclitaxel

Management of sudden onset sensorineural hearing loss

Definition: loss over 3 days or less 2/2 many potential causes: infection, neoplasm, trauma, autoimmune dz, vascular event, drugs Should have urgent audiometry referral Usually treated with oral or intratympanic steroids

reducing formation of oxalate stones

Citrate is excreted in the urine and interferes with oxalate precipitation, thus decreases stones - thus oral citrate supplementation can help. Any gut pathology that decreases calcium absorption will give oxalate less to bind to in the serum, thus increasing urine oxalate and increasing stone formation.

Lofgren syndrome

Classic presentation of sarcoidosis: - fever - erythema nodosum - polyarthralgia - hilar lymphadenopathy If all of these are present, no need to get tissue diagnosis of sarcoidosis (also Heerfordt syndrome) 80% of these patients will have spontaneous resolution

Antibiotics in an open fracture

Covering for S aureus, also gram negatives and anaerobes For PCN allergy: Vanc and Cipro

Most common tumor to cause pituitary hormone deficiency

Craniopharyngioma

HUS (hemolytic uremic syndrome)

Clinically similar to TTP, but usually renal injury predominates, and neuro sxs rare. - usually in kids - if related to E coli, have prodrome of bloody diarrhea - if diarrhea gets ABX, likelihood of HUS is higher. Etiology separate from TTP - no ADAMTS13 relationship. HUS is 2/2 shiga-like toxin damaging the renal endothelium.

Agnogenic myeloid metaplasia (aka myelofibrosis)

Clonal stem cell disorder. Get proliferation of abnormal megakaryocytes that stimulate proliferation of fibroblasts, leads to fibrosis of the marrow - Transformation of Polycythemia vera and essential thrombocythemia can also lead to myelofibrosis Clinical: will have TEARDROP cells on peripheral smear (a finding in all bone marrow infiltration, not just myelofibrosis) - Get extramedullary hematopoiesis, see hepatosplenomegaly, spinal cord compression, ascites Treatment: stem cell xplant is only cure. for most patients, supportive tx only.

Physical characteristics of DiGeorge in a baby

Closely related to velocardiofacial syndrome. Features to look for: - bifid uvula - submucosal cleft palate - low set ears - wide-set eyes

Management of ASDs

Closure indicated when: - right sided chamber enlargement WITHOUT evidence of PH - Sxs d/t the ASD (dyspnea, A fib, paradoxical embolism, cyanosis 2/2 R-->L shunt)

Workup of central hypogonadism

Definition: low testosterone, low FSH/TSH (if testes were the issue, FSH/LH should be high) Should exclude: - PRL - hemochromatosis (esp if patient has early onset OA)

Porencephaly

Cysts or cavities within the brain - can be acquired over time

Recognizing ALL

Common features: fever, pallor, bruising, petechiae, bone pain (refusal to walk), HSM, lymphadenopathy Presentation with pancytopenia - ALL most common ages 2-5, aplastic anemia possible but more common ages 10-25. Also, aplastic anemia will not have HSM or bone pain

Treatment options for Behcet's

Commonly have retinal vasculitis with venous involvement, iritis, acne, arthralgias, plus the oral/genital ulcers Colchicine: treats the aphthous ulcers and arthritis Thalidomide: treats serious mucous membrane disease Azathioprine/Cyclophosphamide: both treat severe, sight-threatening disease Hydroxychloroquine does NOT have a role in Behcet's

Shoulder impingement syndrome

Compression of subacromial bursa or regional tendons between the acromion and the humeral head - Sxs: pain when reaching over head, or at night when lying on the shoulder Exams that may be positive (if any positive, diagnosis made): - Neer test: pain when patient shrugs shoulders against resistance - Hawkins: pain when elbow flexed and internally rotated - Yocum: pain when patient touches the uninvolved shoulder Note: if weakness present, suspect rotator cuff tear and send to ortho Tx: rest from aggravating injuries, PT for 3 mos. If pain despite PT, refer to ortho

delayed separation of the umbilical cord

Congenital Leukocyte Adhesion Deficiency 1 - problem of neutrophil adhesion - actually have higher neutrophil counts, but they don't accumulate in areas of infection - have skin infections, mouth infections, and recurrent pneumonia Diagnose: flow cytometry Treat with BMT

Most common cause of primary adrenal insufficiency in children

Congenital adrenal hyperplasia

Growth problem comparison:

Constitutional delay (Late bloomer) - normal growth velocity - delayed bone age - fhx of pubertal delay Familial short stature - normal growth velocity - normal bone age - FHx of short stature Hormone deficiency (e.g. GH, thyroid) - decreased (height) growth velocity - weight stays ok - delayed bone age - +/- FHx

Drawing milestones

Copy a circle by age 3 Copy a cross by ages 3-4 Copy a square by ages 4-5

Short stature syndromes

Cornelia de Lange Dubowitz Noonan Williams

Calcium channel blockers in CHF

DO NOT use if severe CHF: they have negative inotropic and chronotropic effects

Hypertension with cocaine

DO NOT use metoprolol - unopposed alpha activity can lead to coronary and cerebrovascular vasoconstriction. Labetalol is better.

Aminoglycoside nephrotoxicity

Correcting potassium and mag prior to giving dose DECREASES nephrotoxicity - typically have a lag of 7-10 days before evidence of AKI - Amount of nephrotoxicity is proportional to the total dose of the drug From highest to lowest nephrotoxicity: Neomycin > gentamicin > tobra > amikacin > streptomycin

Testing in new diagnosis of polymyositis

Could be manifestation of paraneoplastic syndrome In new diagnosis in older patient, should do all age-appropriate cancer screening

4 month vaccines

DTaP HIB IPV Rotavirus PCV13

Kawasaki

Criteria fever PLUS 4 of 5: - b/l conjunctival injection - rash - changes in lips/oral cavity (red pharynx, strawberry tongue, fissured lips) - changes in peripheral extremities (edema, redness of hands/feet, desquamation of fingers/toes) - cervical LAD Cardiac manifestations: pericardial effusion, myocarditis, CA changes (3 days to 4 weeks after onset) Can also get hydrops of the gallbladder Treatment: ASA and IVIG (single infusion) long term mgmt.: - TTE at diagnosis and then 6-8 weeks later --> MI is the leading cause of death, usually in the first year

Antiphospholipid syndrome features

Criteria for diagnosis: - + lupus anticoagulant (suspect if prolonged aPTT) - high anticardiolipin antibodies - high anti-B2glycoprotein antibodies Clinical features: - arterial thrombosis - vascular thrombosis - pregnancy loss Often associated with: - Thrombocytopenia - valvular heart disease - livedo reticularis - kidney disease

Management of hyperlipidemia in children

Criteria for statin: - LDL >190 - LDL >160 with strong fhx of early hrt disease, strokes, dyslipidemia - LDL>130 + DM These apply to any child 8 or older

Systemic JIA

Criteria: daily fever (quotidian, often evening), arthritis in any # of joints, and other systemic findings (HSM, LAD, pleuritis, pericarditis). - associated with IL-6 activity - can be associated with migratory rash that is salmon colored with discrete borders, no central clearing (usually occurs with the fever) - labs often with: leukocytosis, anemia, very high ESR Poor prognosis: age <4, active disease 1 year after onset

Treatment of Candidemia

Critically ill: echinocandins (Caspofungin or micafungin) Not critically ill: Fluconazole

2 month vaccines

DTaP HIB IPV Rotavirus PCV13 HepB#2

Morphea diagnosis

Cutaneous sclerosis that involves only the skin - no systemic manifestations. Can be limited or generalized - limited = one or more discrete plaques, generalized = entire trunk and limbs This differs from limited cutaneous systemic sclerosis, which has skin disease not progressing proximal to the elbows/knees,but also has extracutaneous findings (e.g. CREST). Also different from linear scleroderma = onset in childhood, skin thickening that follows a dermatomal distribution, only on one side of the body

testable chemo side effects

Cyclophosphamide = hemorrhagic cystitis Platinum = ototoxicity Doxorubicin = cardiomyopathy 5-FU = sun sensitivity Hydroxyurea = leg ulcers Rituximab = infusion reactions (esp bronchospasm) alpha-interferon = flu-like illness

Transplant drug side effects

Cyclosporine: nephrotoxicity, CNS effects, gum hypertrophy (like phenytoin) Tacrolimus: diabetogenic, nephrotoxicity Azathioprine: bone marrow suppression (most commonly leukopenia) Cellcept: GI side effects, mild bone marrow effects Sirolimus: hyperlipidemia (must monitor lipid levels), thrombocytopenia, delayed wound healing

Ureterocele

Cystic dilation of the intravesical submucosal ureter - more common in ureteral duplication - can cause obstruction OR reflux - 4-7x more common in girls Presentation - asymptomatic, seen on IVP - if duplicated system, often with febrile UTI

Laurence-Moon-Bardet-Biedl Syndrome

Cystic dysplasia of the kidney with: - obesity - retinitis pigmentosa - hypogenitalism - polydactyly - intellectual disability

15 mos vaccines

DTaP#4

4-6 year vaccines

DTaP#5 IPV#4 (could do Kinrix which is DTaP-IPV) MMR#2 Varicella#2 (ProQuad is MMR-Varicella)

Carcinogens and cancer risk

Radiation: leukemia, thyroid Radon gas: lung ca Estrogen: uterine, vaginal, reast animal fat: colon, breast, prostate Viruses: HHV-8: kaposi sarcoma EBv: burkitt lymphoma, NP carcinoma, AIDS-related lymphoma HTLV-1: adult T cell leukemia HIV: kaposi sarcoma, NHL

Diagnosis of male infertility

Semen analysis - abstain from sex for 48-72 hours to have an adequate sample. If test is abnormal, should be repeated If repeat is abnormal, then get LH, FSH, testosterone (looking for Leydig and Sertoli cell function) No testicular U/S needed unless abnormality detected on exam

Tuning forks to diagnose hearing loss

Sensorineural hearing loss: hears better through the air than through the bone via vibration Conductive hearing loss: hears better through the bone (vibration) than through the air

Lemierre Syndrome definition, features

Septic Thrombosis of the jugular vein Pharyngitis, persistent fever, neck pain, septic pulmonary emboli Diagnose with CT with contrast of the affected vessel

TRALI (transfusion-related lung injury)

Severe pulmonary reaction d/t antibodies in FFP typically 1-2 hours after transfusion, can be up to 6 hours Get acute onset respiratory distress. Have alveolitis, noncardiogenic pulmonary edema, and ARDS

Type I RTA

DISTAL - defect in H+ secretion - HYPOkalemia - get renal stones, nephrocalcinosis, hypercalciuria Associated with: - amphotericin - lithium - SLE - Sjogren

Type IV RTA

DISTAL HYPERKALEMIC Associated with: - diabetes - obstructive uropathy - interstitial nephritis

Working up testicular cancer

DO NOT biopsy - get testicular U/S. if not cystic, then get abd CT

Managing a new diagnosis of hypospadias

DO NOT circumcise If the anomaly is distal (the glans), no higher incidence of renal issues than the general population, so do not need renal U/S If proximal (scrotal, perineal), more commonly associated with GU issues Should refer to urology w/in the first few weeks after birth - usually repair at 6 mos old

Prostate cancer screening

Debatable. - consider screening at 50 - consider screening at 45 for AA men with primary relative diagnosed at age <65 - consider screening at 40 if multiple 1st degree relatives - STOP screening at 75 - if + rectal or PSA >4, should get transrectal U/S guided needle bx

Bone disease in CKD

Decline in GFR leads to retention of phosphorus, which increases PTH, causing renal osteodystrophy (high bone-turnover) -Using calcium-based phos binders increases Ca and suppresses PTH, leading to an adynamic bone (also bad) - Better to use non-calcium based binders (sevelamer) High phos is associated with increased risk of death and heart disease

Brachioradial pruritis

Deep, crawling, tingling sensation on forearms, shoulders, upper back. - No visible skin findings - associated with cervical spine abnormalities

Marfan syndrome signs

Defect in elastic fiber formation - long limbs - aortic root dilation (and dissection) - ectopia lentis (lenses displaced upwards)

Alkaptonuria

Defect in enzyme (homogentisic acid dioxygenase) which is 3rd step in tyrosine metabolism. Do NOT get elevated tyrosine levels Generally asymptomatic, in 30s get pigment deposition in ears and sclerae, ultimately get arthritis 2/2 joint deposition Classic finding: urine turns dark when it sits for a while.

Osteogenesis imperfecta

Defect in procollagen genes - brittle bones - blue sclerae - teeth problems - hearing loss 7 total types. type I is autosomal dominant and mildest

Fanconi Syndrome

Defects in renal proximal transport, resulting in type II RTA Will have hypokalemia, hypophosphatemia, and hypouricemia. Should have non-gap acidosis Associated with type II RTA, and therefore with multiple myeloma, which often causes it.

JIA

Definition: - onset before age 16 - persistent synovitis of 1 or more joints for at least 6 weeks Symptom clues: - morning stiffness improved with movement later in the day - changes in running/walking/willingness to play, esp in the AM - leg length discrepancies - return of need for assistance with dressing/eating - loss of developmental milestones

Managing overweight children

Definition: BMI >85th % Should screen for type II DM starting at age 10! (or onset of puberty) and every 3 years thereafter if: - BMI >85th - FHx type II DM - high risk ethnicity - maternal DM

Non-dermatophyte onychomycosis

Dermatophytes are most common cause, however yeasts and non-dermatophyte molds are become more common (Candida, Fusarium) 50% of nail dystrophies are 2/2 something other than infection. - Should get nail clipping for culture/histology to confirm

Tyrosinemia

Disorders with common theme of high tyrosine levels Three common types Type I - defect in enzyme in tyrosine metabolism, get accumulation of succinylacetone (high tyrosine is a marker of the disease but not the actual problem). Affects infants, usually rapid death, sometimes slower FTT. Can lead to liver failure and Fanconi syndrome - treat with NTBC (blocks tyrosine metabolism so byproduct can't accumulate) Type II - deficiency in different enzyme than type I, get high tyrosine which leads to: corneal ulcers, red papular lesions on palms/soles Type III - very rare, will have intellectual disability

Meatal stenosis

Diagnose by observing voiding, look for straining and watch the urinary stream - does NOT cause any upper GU disease

Glucocorticoid excess

Diagnose with dex suppression test. If NOT able to suppress the cortisol, suspect: - ectopic ACTH OR - adrenal adenoma - only an adrenal adenoma will suppress ACTH levels in the body

Diagnosis of hypogonadism in males

Diagnose with free, rather than total, testosterone

Mulitple Myeloma diagnosis/treatment

Diagnosis: - SPEP and UPEP to look for the monoclonal protein - skeletal survey for lytic lesions - Bone marrow with >10% plasmacytosis - for staging, measure beta2-microglobulin (a protein on the heavy chains) Treatment: - if symptomatic or M protein >5 g/dL - Thalidomide + decadron OR Lenalidomide + Velcade - can do stem cell xplant

Diagnosis and treatment of CLL

Diagnosis: - peripheral flow cytometry looking for cell markers Treatment: - No treatment until symptomatic or rapid disease progression Young patients: Many agents (Fludarabine, rituximab) with goal of prolonged remission Older patients: Monotherapy (Chlorambucil) to palliate symptoms Stem cell xplant is under investigation

ALL features

Diagnosis: 25% blasts on bone marrow - Tdt-positive - + CD10, CD20 Treat with induction chemo (Daunorubicin, vincristine, L-asparaginase, prednisone)

Management of SBP

Diagnosis: >250 PMNs Treat with Cefotaxime If having associated kidney failure, at increased risk of mortality. In that case should concurrently be giving albumin.

NSAID-induced acute interstitial nephritis

Different from other AIN: - more proteinuria (nephrotic-range) - glomerular changes c/w minimal change dz - NSAID ingestion is months long before symptoms occur - lacks rash/fever/eosinophilia

Neonatal lupus

Different than pediatric lupus - results from maternal Ab across the placenta Features: - rash - cytopenias - hepatitis - CONGENITAL HEART BLOCK

Types of systemic scleroderma

Diffuse - more likely to have multiorgan involvement - 30% with anti-topoisomerase Ab Limited (AKA CREST) - more of a spectrum than isolated CREST - 10% get pulmonary HTN, especially if anti-centromere + - usually NOT associated with interstitial lung disease C = calcinosis cutis R = raynaud E = lower esophageal dysfunction S = Sclerodactyly T = telangiectasias

Anti-SCL70

Diffuse scleroderma - increased incidence of interstitial lung disease, reduced survival

Coombs tests

Direct - Antibodies against IgG or C3 are mixed with the patient's blood. If the test is positive, means there is IgG or C3 on the surface of the patient's RBCs Indirect - Looking for whether the patinet's blood has antibodies that would cause agglutination of OTHER people's RBCs (like with transfusion, pregnancy). Mix Rh and ABO-compatible blood with the patient's serum.

Coombs tests

Direct Coombs test - Antibodies against IgG or C3 are prepared in an animal and then mixed with the patient's blood. A positive test occurs if the patient's RBCs agglutinate - meaning there is IgG (or C3) on the surface of the patient's RBCs Indirect Coombs test - done to see if the patient's serum contains antibodies that would cause agglutination of other RBCs. Mix Rh- and ABO-compatible RBCs with the patient's serum, and a positive test occurs if these RBCs agglutinate.

Etiology of anaphylactoid reaction to contrast dye

Direct activation of mediator release from mast cells and basophils it is NOT IgE-mediated

SLE skin manifestations

Discoid rash: circular, hyperpigmented edges - usually only lupus manifestation in patients that have this Systemic: erythematous, UV sensitivity rash, usually over malar area (butterfly, SPARES the nasolabial fold), also neck, arms, back Subacute cutaneous: UV light sensitive, psoriasis-like others: urticaria, vesicles, lichen planus Commonly get alopecia, aphthous ulcers

Multiple Carboxylase Deficiency

Disorder of biotin utilization - is required to break down organic acids Classic triad: alopecia, skin rash, encephalopathy Treat with free biotin

Chronic Granulomatous Disease

Disorder of neutrophil fxn - defect in the respiratory burst. Neutrophils ingest bacteria but can't kill the bacteria - infants have recurrent infections, esp skin/perirectal, also liver abscesses and osteomyelitis Diagnosis: - NBT dye test - to quantitate the reduction of NBT to NBTH

Propionic Acidemia

Disorder of organic acid build up Autosomal recessive Get build up of propionyl-CoA (breakdown of valine, methionine, isoleucine, and threonine) Presents with VOMITING Infant with severe ketoacidosis, encephalopathy, bone marrow depression (reminiscent of pyloric stenosis) Diagnose with urine organic acids

Isovaleric acidemia

Disorder of organic acid build up autosomal recessive presents as an intoxication ODOR OF SWEATY FEET! Presentation: newborn with severe metabolic acidosis and ketosis with vomiting. OR infant/child with recent infection, getting intermittent acidosis Diagnosis with urine organic acids (high urine isovaleryl-CoA b/c it isn't being broken down elsewhere)

Ectopic ACTH hormone secretion features

Get rapid onset Cushing Syndrome: - hypercortisolism: urine cortisol is up, and have new onset DM and proximal muscle wasting/weakness - Melanonychia striata on toenails - excess mineralocorticoid features (hypertension, metabolic alkalosis, excessive urine potassium loss) - Excessive ACTH will cause hyperpigmented mucous membranes half of ectopic ACTH cases are 2/2 SCLC

Type IV RTA

Distal - 2/2 aldosterone resistance --> Na/K ATPase doesn't work - HYPERKALEMIA Causes: - Diabetic nephropathy - ACEi - Aldactone - NSAIDs Treatment: dietary restriction of sodium, bicarb replacement, Lasix

Newborn Screening

Does not include: storage disorders, complex molecule defects, mitochondrial defects Does include: - amino acid defects - fatty acid oxidation defects - galatosemia - biotinidase deficiency - hemoglobinopathies - endocrine disorders (CAH, congenital hypothyroidism) - CF

Disorders associated with ALL

Downs Ataxia-telangiectasia Bloom syndrome Fanconi anemia Neurofibromatosis

Allopurinol Hypersensitivity syndrome

Dramatic worsening of renal fxn, liver enzyme elevation, and rash (including Stevens-Johnson) Patients at risk: elderly, renal dysfxn, hypertension

Humoral Hypercalcemia of malignancy

Due to tumor production of PTHrP, increases serum calcium by acting on bones, kidney, intesntial absorption Usually associated with squamous cell carcinoma of the lung (rarely with B cell lymphoma)

Symptoms of supratentorial lesion

HA weakness seizures Parinaud syndrome: impaired upward gaze, dilated pupils that react poorly to light, and nystagmus with lid retraction

Disorders of energy defects

During fasting, we get energy in the following order: glucose in the blood, then breakdown of stored glycogen, then fatty acid oxidation, then amino acid breakdown Examples: Fatty acid oxidation defects Glycogen storage diseases (defect making or breaking down glycogen) Krebs cycle/mitochondrial respiratory chain disorders Presentation: fasting or illness increases energy needs, exacerbates condition and precipitates decompensation.

Warfarin and clotting

During initiation, proteins C and S drop, can make patients temporarily more likely to clot Especially true for patients who are already protein C deficient. If so, must pre-treat with heparin 1/3 of patients who get warfarin-related skin necrosis are protein C deficient

Ankylosing Spondylitis diagnosis/treatment

Dx: - symptomatic symmetric sacroiliitis confirmed on xray - absence of IBD or psoriasis - if xray negative, get MRI with gad for edematous inflammatory changes (xray may be negative for 10 years) Tx: - stretches, posture training, proper pillow positioning during sleep - use DMARDs and biologics to prevent fusion and joint damage: Sulfasalazine, MTX, infliximab, etanercept

Mechanism of carbonic anhydrase inhibitors

E.g Acetazolamide - Disrupts H+ availability in the tubule cells and H2CO3 availability in the lumen of the proximal tubule - The Na/H countertransporter then doesn't have substrate, Na isn't reabsorbed, and H+ isn't secreted - Leads to mild diuresis and generation of metabolic acidosis

B12 deficiency

Etiologies: - pernicious anemia - strict vegan diet - EtOH Causes anemia, but also get GI things (smooth, sore tongue, diarrhea) and neuro things (paresthesias, frank psychosis) Diagnosis: B12 <200 If borderline (200-400), can get methylmalonic acid and homocysteine. BOTH are elevated in B12 deficiency, only HC is elevated in folate deficiency To diagnose pernicious anemia: look for anti-parietal cell antibodies or anti-intrinsic factor antibodies.

Hypercalcemia

Etiologies: - ectopic PTHrP (most common) - increased osteoclast activity 2/2 bone mets - overproduction of 1,25 vit D Most commonly associated cancers: - Squamous cell of the lung or head/neck (usually PTHrP) - myeloma - breast ca - T cell lymphoma - renal cell Management: - IV fluid hydration - lasix - bisphosphonates

von Willebrand Disease features

Most common inherited bleeding disorder Mild form = autosomal dominant Severe form = autosomal recessive vWF protects factor VIII from destruction. Without vWF, get low factor VIII --> aPTT prolongation --> mucocutaneous bleeding, menorrhagia, postpartum hemorrhage Diagnose with vWF antigen and activity level Treat mild form with DDAVP. Severe forms with vWF-containing factor VIII

Work up solid food dysphagia

EGD (before swallow study, etc) Most commonly d/t eosinophilic esophagitis

Autosomal dominant polycystic kidney disease

ESRD usually not until ages 50-60 - often not diagnosed in childhood, but can be incidental finding - U/S children if parent has the disease

Fetal heart rate decels

Early decels: d/t fetal head compression during contraction, NOT indicative of fetal distress Late decels: fall in fetal HR after onset or during contraction, recovery only after the contraction has ended. POTENTIALLY OMINOUS Variable decels: acute fall in FHR with rapid down slope, variable recovery period. d/t umbilical cord compression. Can be normal or abnormal. Fetal tachycardia = >160 Fetal bradycardia = <120. <80 = hypoxia, BAD SIGN

atypical breast cancer presentations

Eczema of ONE nipple - worry about Paget disease in a NON-breastfeeding woman. True allergic eczema is generally bilateral Mastitis in a NON-breastfeeding woman - worry about inflammatory breast cancer

Most common organism in human bites

Eikenella, and anaerobes

vasculitis and hepatitis associations

Hep C = cryoglobulinemia Hep B = PAN

Porphyria definition

Enzyme defect in the heme synthesis pathway Generally classified as hepatic or erythropoietic in their overproduction and accumulation of porphyrin precursor If hepatic, see neuro abnormalities If erythropoietic, will have cutaneous photosensitivity

Xrays of airway infections

Epiglottitis - thumb sign Croup - steeple sign

Mouth findings

Epithelial pearl (shiny white mass on the gums) Epstein pearls: midline, roof of the mouth, at the junction of the soft and hard palate Ranula: floor of the mouth, dilatation of a salivary gland - should be excised

AEDs and OCPs

Estrogen-containing OCPs interact with lamictal (increased metabolism), can increase sz If going to use OCP, should increase dose of lamictal. Get drug level before the OCP and then check 7-10 days later, adjusting as needed. Other AEDs (tegretol, phenytoin, topamax) increase the metabolism OCPs and make them less effective. SO, Lamictal is the right medicine to use if going for OCPs, just need to increase the dose.

Clinical features of Milwaukee shoulder

Severe shoulder pain preventing movement Bloody effusion No crystals on microscopy Caused by hydroxyapatite arthropathy See calcific tendonitis on xray

ITP plus autoimmune hemolytic anemia

Evans syndrome

Diagnosis of Brain Death

Exam c/w brain death: coma, no motor response, no pupillary response, no corneal reflex, no gag In addition to above, need apnea test: get the PCO2 to 40-60 and the patient normothermic, then d/c the ventilator and trend ABGs at 1,5, and 8 minutes. If PCO2 rises >20 without observed respirations, confirms brain death. EEG is not needed unless apnea test cannot be performed

Management of stroke in sickle cell

Exchange transfusion

exogenous testosterone vs secreting tumor

Exogenous testosterone will cause: - high testosterone - high estrogen (gets converted from testosterone) - would NOT impact DHEA level Adrenal tumor that secretes DHEA will cause: - high testosterone, estrogen, and DHEA Both will cause softer testes Should diagnose adrenal tumor with CT scan

Diagnosis of gastrinoma

Expect gastrin level >1000. (normal is 100 but intermediate levels aren't diagnostic)

radioactive iodine uptake testing

Expect high uptake (>35%) in Grave's, hot nodules, etc. Expect low uptake (<5%) in hashimoto, other thyroiditis conditions Dietary iodine can affect uptake. If taking Iodine supplements, will have lower than normal test uptake b/c the thyroid is getting more from the diet so doesn't need as much from the test. Low intake will cause the opposite.

Toxoplasmosis facts

Most common long-term consequence: acute ocular involvement with chorioretinitis. Symptoms may not occur until many years after birth Can also result in hearing loss, MR, and learning disabilities, but vision is the most common issue. Often asymptomatic at birth. If symptoms, can have: maculopapular rash, lymphadenopathy, hepatosplenomegaly, jaundice, intracerebral calcifications, thrombocytopenia, and petechiae.

Head control milestones

When lying down: lifts head momentarily - 1 month can lift head off table - 2 mos can lift chest off table - 4 mos When pull to sitting: complete head lag - newborn no head lag - 4 mos Lifts head off table in anticipation of being lifted - 6 mos

Genetic syndromes associated with cancer

Fanconi anemia Neurofibromatosis (sarcomas) Ataxia-telangiectasia (lymphoma) Familial polyposis coli (colon ca)

Management of tibial torsion (intoeing)

observe and reassure - frequently presents with parental concerns of clumsiness and tripping - bracing, splinting, etc. have been shown to be ineffective - usually will resolve by age 4

Management of temporal lobe epilepsy

If refractory to medications (i.e. refractory to more than two), the likelihood of remission by adding of substituting a med is low If patient has mesial temporal sclerosis (temporal lobe lights up on MRI), or a known low grade tumor or vascular malformation, highest likelihood of remission is with R temporal lobectomy.

Dentist recommendations

If risk factors (special needs, many kids int he house, etc.) should be seen @6-12 mos If no risk factors, should be seen by age 3

Diagnosis of GI bleed

If risk factors for upper GI bleed (NSAIDs, etc.), even if negative NG tube and BRBPR should rule out upper GI etiology first with endoscopy.

Indications for mitral valve repair

If severe MR and normal EF, new onset A fib is an indication for valve repair

Adult onset Still's disease features

Features: - Daily fever - evanescent rash - arthritis - multisystem involvement Labs: - leukocytosis, anemia, thrombocytosis, elevated ESR, elevated ferritin, abnormal LFTs Must exclude leukemia/lymphoma

Hurler Syndrome (MPS Type I)

Features: - coarse facial features (mid-face hypoplasia, large tongue) - frequent URIs - inguinal/umbilical hernias - large head (>95%) - communicating hydrocephalus Exam: - large head - hepatosplenomegaly - cardiac disease - corneal clouding - deafness Treatment: enyme replacement therapy

Juvenile Myoclonic Epilepsy (Janz Syndrome)

Features: - morning myoclonic jerks - history of absence seizures - tonic-clonic seizures just after awakening or during sleep - family history

Diagnosis of thyroid storm

Features: - temperature elevation - significant tachycardia - heart failure - abd pain, N/V/D - Agitated and delirious

Lennox-Gastaut Syndrome

Features: severe seizures, intellectual disability, characteristic EEG pattern - generalized, bilateral synchronous, sharp-wave and slow-wave complexes Seizures begin in first 3 years and are refractory to meds

Causes of SIADH

Illnesses: - CNS - Lung - Cancers (SCLC, pancreas, duodenum, thymus) - In general, pain and chronic nausea Drugs: - Thiazides - NSAIDs - SSRIs - Trileptal - Haldol - Vincristine - Cisplatin

Pentad of TTP

FARTS: - fever - anemia (with schistocytes, hemolytic) - renal failure - thrombocytopenia - neuro changes (fluctuate, can have seizures, confusion)

Definition of obstruction on PFTs

FEV1/FVC <70%

CML

FISH assay for t(9;22) of the peripheral blood for other blood malignancies would get flow - CML cells don't express surface markers, so now as helpful

Management of a thyroid nodule

FNA (repeat if non-conclusive) - a hot, benign nodule can be followed

factor XII deficiency

Factor XII = Hageman factor Labs with very long PTT, normal PT - NO clinical bleeding disorder, surgery is safe.

Vitamin K deficiency

Factors affected: II, VII, IX, X, proteins C and S Etiologies: dietary, malabsorption, antibiotics, decreased storage 2/2 liver dz Labs: long PT, normal PTT, and no evidence of DIC, etc. Treat: acute bleeding with FFP. Replete vitamin K (oral if possible, IV = anaphylaxis)

conditions that affect measurement of T4 (total, not free)

Falsely high T4 (increasing TBG): - OCPs - pregnancy - Tamoxifen - Narcotics - hepatitis - Biliary cirrhosis Falsely low T4 (decreasing TBG): - androgens - steroids - nephrotic syndrome In either case, the free T4 will be normal.

Colon tumor syndromes

Familial adenomatous polyposis: 100% colon ca risk, recommend colectomy Gardner syndrome (multiple intestinal polyps and tumors of the mandible) Turcot syndrome (primary brain tumor, medulloblastoma, with multiple colorectal polyps) Lynch syndrome (hereditary nonpolyposis colorectal cancer)

Thumb/radii syndromes

Fanconi anemia Diamond-Blackfan syndrome Thrombocytopenia absent radius (TAR) syndrome Holt-Oram syndrome

Iron deficiency labs

Fe low TIBC HIGH Transferrin low Ferritin low

Diabetic-limited joint mobility syndrome

Features: - "prayer's sign" - frozen shoulder - Dupuytren contracture - carpal tunnel - pseudoscleroderma of Buschke

A-a gradient calculation

FiO2 x[(atmospheric pressure-H20 pressure)-PaCo2/0.8] Simplified on room air: (150-PCO2/0.8) - PaO2 Normal is 5-10 Increased gradient: V/Q mismatch, R-->L shunt Normal gradient: hypoventilation, high altitude

Prostate cancer prevention

Finasteride for 7 years has 25% decreased risk - was associated with higher grade cancers in those that got cancer, unclear significance

Sleep apnea in Heart Failure

First line tx is medical therapy to improve hrt fxn. Second line is adaptive servoventilation (form of positive airway pressure therapy). CPAP can help if element of OSA, but can also worsen/exacerbate central sleep apnea of heart failure.

Management of DKA

First step is FLUID, bolus 10-20 mL/kg THEN insulin 1-2 hours after fluid resuscitation has started (earlier insulin increases risk of cerebral edema)

Management of superficial venous thrombophlebitis

Generally managed with NSAIDs and compression stockings There is potential to progress to DVT and PE - if recurrent, should consider Warfarin

Liddle Syndrome

Genetic See: - Hypertension - Hypokalemia - Metabolic alkalosis - primary Na retention 2/2 abnormal collecting tubule pumps - treat with Amiloride or triamterene

Pain management in infants

For blood draws, sucrose decreases pain Ok for swaddling, holding afterwards, but doesn't decrease pain during the procedure

Vitamin D supplements

For breastfed infants, should give 400 IU/day starting in the first few days of life, continue until drinking milk.

another term for glycoprotein IIb-IIIa complex

platelet integrin alpha IIb beta 3 (defective in Glanzmann thrombasthenia)

Antibiotics for pertussis prophylaxis

For health care workers: Azithromycin x 5 days (or Erythromycin x 14 day) If cannot do macrolide, could do Bactrim (older than 2 mos)

DMARD choices for RA

For mild disease: hydroxychloroquine, sulfasalazine For worse disease: MTX, leflunomide - Rhuem board says to use MTX first for everyone - Leflunomide should be used if can't tolerate MTX - HCQ requires twice a year eye checks d/t risk of retinopathy and yearly renal fxn checks and muscle strength (myopathy) - MTX contraindications: preexisting renal disease, liver disease, and pregnancy

Live vaccines

MMR, Varicella, Rotavirus, live flu Also, yellow fever and typhoid In general, these are contraindicated for immunocompromised patients. Exception: - MMR and maybe also Varicella are ok for asymptomatic HIV+ patients MMR, Varicella, and rotavirus are NOT contraindicated for children who live with an immunocompromised person (or whose mother is pregnant). Live flu IS contraindicated if a severely immune suppressed person lives in the home

Mucopolysaccharidoses (MPS)

Get buildup of substances in lysosomes, which causes the symptoms There are multiple types In general: - infants normal at birth, but develop characteristics as storage material accumulates - all are progressive, most fatal Presentations: - dysmorphic/coarse features - learning difficulties, behavior problems, dementia - bone dysplasia Diagnosis: - urine screen is first step, but often false-negative - lysosomal enzyme studies - xray looking for dysostosis multiplex

Allergic blood reaction

Get hives, can have anaphylaxis More likely if recipient is IgA deficient Decrease likelihood with IgA-deficient donor

Alpha thalassemia features

Get ineffective erythropoiesis, intravascular hemolysis, decreased Hgb production. Labs: mild anemia, microcytosis, hypochromia, target cells. In adults, will have NORMAL Hgb electrophoresis. Often mistaken for Iron deficiency, but Fe studies not consistent

Homocystinuria

GROUP of disorders, all of which result in elevated levels of homocysteine Most common/classic is autosomal recessive, due to defect in cystathionine beta-synthetase Presentation: marfanoid habitus, developmental delay, lens dislocation, increased risk of venous and arterial thromboembolism The lens subluxation is DOWN and MEDIAL (Marfan is UPWARD) Treatment: some forms respond to high doses of vitamin B6. Usually also need diet low in methionine

Imaging issues in CKD

Gadolinium can cause nephrogenic systemic fibrosis (skin thickening, can get organ fibrosis, scleral yellowing)

HPV vaccine

Gardasil HPV 6, 11, 16, 18 Women and men, ages 9-26

Erlenmeyer flask deformity of b/l femurs

Gaucher disease lipid storage problem

Types of testicular cancer

Germ cell (95%) - seminoma (60%) --> AFP negative, few hCG + - nonseminoma (40%, more aggressive) --> embryonal (50% hcg+), teratoma (AFP and hCG neg), choriocarcinoma (100% hCG+), yolk sac (100% AFP+) stromal (5%) - leydig cell - sertoli cell

Acute HIV diagnosis

Get acute illness 2-4 weeks after infection with fever, LAD. Will usually resolve without treatment. In the acute period, seroconversion has not occurred so antibody testing will be negative Diagnose at this time with viral-specific nucleic acid amplicification

Differentiating type I vs type II DM

Get pancreatic autoantibodies (islet cell antibodies, glutamic acid decarboxylase antibodies)

Inclusion-body myositis

MOST COMMON inflammatory myopathy in age >50 - more common in men Sxs: - distal weakness (weak hand-shake) - dysphagia Often with history of drug exposures (antimalarials, steroids, colchicine, statins, cocaine) or EtOH use Diagnosis: - biopsy only (labs not helpful) - path with vacuoles and fiber inclusions in muscle cells Tx: stop precipitating drugs, give high dose steroids. Generally indolent course but not very responsive to tx.

Glycogen Storage diseases

Glycogen (storage form of glucose) cannot be metabolized correctly, so accumulates in tissues Most are autosomal recessive Some affect the liver more than the muscles and vice versa

Hormone responsible for the initiation of puberty

GnRH - leads to pulsatile release of LH, which triggers growth of gonads and release of sex hormones In girls, start having estrogen release which leads to MORE LH release

Management of secondary hyperparathyroidism in ESRD

Goal PTH should be 150-300, and goal phos <5.5 1. Use calcium to bind the phos 2. If PTH is still high, add vitamin D analog to bring it down If phos is at goal and PTH remains elevated, increasing Ca or adding sevelamer won't help the PTH, need to address with vit D instead. Only if all therapy (vit D, phos control, cinacalcet) fails is parathyroidectomy an option

DR resuscitation

Goal PaO2 is 50-70 (sats 90-95%) ETT sizes: <1 kg = 2.5 1-2 kg = 3 >2.5 kg = 3.5 ETT length 1 kg = 7 cm 2 kg = 8 cm 3 kg = 9 cm 4 kg = 10 cm Epi dose: 0.01-0.03 mg/kg of 1:10,000, IV or ETT Drugs than can go down the ETT: epi, atropine

Use of ACEi in proteinuria

Goals should be: BP <130/85 and reduction in proteinuria - Should keep increasing ACEi dose until reduction in proteinuria is seen - May see slight rise in Cr with ACEi, not a reason to stop it

Feeding in cardiac disease

Goals: 130-140 kcal/kg/day Minimal hydration requirement 100 mL/kg/day

Treatment of alcoholic hepatitis

Grade severity based on Maddrey discriminant function score. Severe = 32 or greater If severe, treat. First line is steroids (avoid with GI bleeding, kidney failure, active infection). Second line is Pentoxifylline.

Most common organism in nec fasc

Group A strep (if previously healthy) Clostridium perfringens is more common in underlying conditions (DM, recent surgery, immune compromise, peripheral vascular disease)

Association with midface anomalies

Growth hormone deficiency suspect especially with solitary maxillary central incisor or cleft lip/palate

12 month vaccines

HIB#3 (or 4 if in combo vaccines earlier) PCV13#3 (or 4 if in combo) MMR#1 Varicella#1 HepA#1 (second one is due 6-18 mos later)

Diagnosis of HIV in infants

HIV DNA PCR To diagnose, should test at: - 14-21 days old - 1-2 mos old - 4-6 mos old

Lymphoma and HIV

HIV-associated lymphomas (d/t immune suppression): - DLCL - Burkitt's - Hodgkin's DLCL limited to the CNS (CNS lymphoma) is UNIVERSALLY associated with EBV in patients with HIV

Polymyositis features

HLA-DR3 (sometimes) Sxs: - proximal muscle weakness (legs first, like muscular dystrophy) - difficulty rising from seated position - mild myalgias (mild, not severe, not presenting complaint) - progresses to dysphagia, dysphonia, dyspnea (diaphragm weakness) and ECG changes diagnosis: - abnormal EMG - increased CK (in the thousands) as well as aldolase, LDH - abnormal muscle biopsy (cytotoxic T cell infiltrate, simultaneous muscle degeneration/regeneration)

APGAR scoring

HR: absent, <100, >100 RR: absent, slow/irregular, good/crying Tone: limp, some flexion, active motion Reflex: no response, grimace, cough/sneeze/cry Color: blue/pale, body pink/limbs blue, completely pink

Diagnosis of ankylosing spondylitis

MRI of the SI joints Have to get radiographic evidence of sacroiliitis for diagnosis. Early on Xray may be negative, so get MRI which will show bone marrow edema, synovitis, and erosions

Screening labs in CKD

Yearly PTH and 25-vitD levels. - for stage 3 CKD, if PTH is elevated, should be treated with 25-vit D - if phos elevated, should treat with low-phos diet and phos binders - goal Hgb should be 10 (not higher, which is associated with higher mortality) - would give EPO if <10 (and Fe deficiency should be corrected)

Potassium change in Addison's dz

HYPERkalemia

Addison's disease labs

HYPERkalemia, metabolic ACIDosis Normotensive or hypotensive 2/2 mineralocorticoid deficiency

Liddle Syndrome

HYPOaldosterone state - Hypertension and hypokalemia - low renin and aldosterone

Labs in pyloric stenosis

HYPOchloremic metabolic ALKalosis

Potassium change in Cushing syndrome

HYPOkalemia - excess cortisol has an aldosterone-like effect

Treatment of aggression/behavior issues in dementia

Haldol

Management of osteoporosis in men

Half will have an identifiable cause, so should screen for secondary osteoporosis rather than just treat with bisphosphonate. Look for hypogonadism, vit D deficiency, high PTH, myeloma Also, consider celiac disease (can get 24 H urine calcium excretion while on supplement - if low U calcium, may indicate calcium malabsorption)

Most common cause of goiter in children >6 in the US

Hashimoto thyroiditis (aka chronic lymphocytic thyroiditis)

APGAR scoring

Heart rate Respiratory rate Muscle tone Reflex irritability Color

Growth curve in familial short stature

Height is the lower edge of normal and stays that way, but with normal velocity

Urethrorrhagia

Hematuria at the end of urinating (spotting of blood on the underwear) ONLY in boys Will often last a year, coming and going, if U/S is normal NTD, will usually resolve

HELLP Syndrome

Hemolysis, elevated liver enzymes, low platelets - in 20% with preeclampsia and 10% with eclampsia - labs c/w hemolysis - can uncommonly get hepatic rupture Only tx is delivery of the fetus - pheresis doesn't help. Important to distinguish HELLP from TTP/HUS as both can occur peripartum

Birth vaccines

Hep B only If mother is hepB+, must be w/in 12 hours, and accompanied by hepB immune globulin Infants of hepB+ mthers should have hepB testing (antibody and surfance antigen) after they finish the hep B series. If hepBAg negative but non-responder to the vaccine, should have a second 3 dose series

Mother with + HBsAg

Hep B vaccine PLUS immune globulin at birth - second hep B vaccine at 1 month, third at 6 mos - test for hep B Ab and Ag at 9-18 mos

Acute Intermittent Porphyria

Hepatic porphyria AUTOSOMAL DOMINANT! (but heterozygotes are generally asymptomatic) Things that trigger this: - barbituates (including phenobarb) - sulfa ABX - anti-seizure meds (carbamazepine, valproic acid) - griseofulvin - synthetic estrogens (birth control) Presentation: abdominal pain, ileus, decreased bowel sounds. NO abd pain on exam, though, b/c it is a neuro issue Get peripheral neuropathy (more motor than sensory) leading to progressive weakness Sxs will improve after an attack, including the weakness, but can take a long time Diagnosis: measure HMB synthetase in the RBCs a normal PBG (porphobilinogen) level RULES OUT acute intermittent porphyria

Most common liver tumor in children <3

Hepatoblastoma

Myelomeningocele

Herniation of meninges and spinal column - folic acid prior to conception reduces this incidence by 50-60% - can be anywhere along the spine, but usually the lumbosacral region - 80% of children will develop hydrocephalus 2/2 Chiari II defect

Chiari III malformation

Herniation of the cerebellum through a cervical spina bifida defect

Meningocele

Herniation of the meninges only, spinal cord is usually normal - will see fluctuant midline mass - usually covered with skin Management: can delay surgery if normal neuro exam until full imaging can be obtained If leaking CSF or incomplete skin covering, need immediate surgery

Myositis ossificans traumatica

Heterotopic bone formation at the site of a previous muscle injury - history with direct blow to the affected muscle, followed by bruising/swelling - most common in the quadriceps - may see calcification on xray, 3-6 weeks post-injury - if persistent issues, need surgery for resection of the heterotopic bone

Ethylene glycol ingestion

High anion gap - calcium oxalate crystals in the urine

Hyperphenylalaninemia

High phenylalanine levels without true PKU (usually a milder enzyme deficiency so can tolerate higher levels of phenylalanine) - Some have defect of synthesis or recycling of biopterin - will have neuro symptoms that progress despite dietary management of phenylalanine levels Presentation: infants with severe neuro disease - hypotonia, spasticity, posturing, drooling Treatment: phenylalanine restriction plus biopterin supplementation

Non-Hodgkin lymphoma

Most common lymphoma in peds - no age group, can occur even in infants - tends to be high grade and diffuse in kids (rather than chronic/indolent in adults) - most common childhood NHL is sporadic Burkitt Associated with: - Ataxia-telangiectasia - Wiskott-Aldrich - HIV - immunosuppressed states Diagnosis: - biopsy required - Staging similar to Hodgkin Treatment: CHOP therapy (cyclophosphamide, doxorubicin, vincristine, prednisone)

Congenital Scoliosis

High risk for other things: - 25% risk GU malformation - 10% risk cardiac defect - more than 50% of patients with esophageal atresia have congenital scoliosis

MDS treatment

Higher risk MDS associated with presence of blasts, and two or three cytopenias vs just one. For high risk MDS, should give Azacitidine

Risk factors for developing uveitis in JIA

Higher risk group: female patients with pauciarticular disease, ANA positive, and diagnosed before age 4 uveitis = iridocyclitis

Gaucher Type I

Most common of the Gauchers - Presents in childhood (after age 2) - NON-CNS disease - only visceral involvement commonly presents with splenomegaly found incidentally - hypersplenism increases TCP and bleeding Common featuers: pale, anemic-looking childhood with increased pigmentation of the skin and abdominal protuberance

Adrenal steroid synthesis pathway

Highlights: - 21 or 11B hydroxylase deficiency forces the pathway to increased DHEA and therefore testosterone - 11B hydroxylase deficiency leads to increased 11-deoxycorticosterone - a potent mineralocorticoid. Get excessive androgens AND hypertension! - 17-hydroxylase deficiency forces pathway to increased minderalocorticoid production

Most common infection worldwide causing GI blood loss

Hookworm infection

Dose of stress dose steroids

Hydrocortisone (quick acting, has mineralocorticoid and glucocorticoid effects) Dose of stress dose steroids: triple the physiologic dose (which is 10 mg/m2 per day), so 30 mg/m2/day

Craniosynostosis

Most common type is the sagittal suture, resulting in a long, narrow head. 4>1 men:women to differentiate craniosynostosis from positional plagiocephaly: - positional has parallelogram-shaped head, ipsilateral occipitoparietal flattening, anterior ear displacement and ipsilateral frontal bossing - unilateral lambdoid (posterior) synostosis - trapezoid-shaped head, POSTERIOR ear displacement, and CONTRAlateral frontal bossing If craniosynostosis is suspected, should refer to N/S

Gitelman Syndrome

Hyperaldosterone syndrome - elevated renin - NO HYPERTENSION Presents as older child with MSK signs/symptoms

Primary hypogonadism in males

Hypergonaditropic hypogonadism aka vanishing testes syndrome - will have very low testosterone, very high FSH/LH (only once puberty should happen, not as an infant) - suspect with abnormally small testes/penis, but sometimes not noted until puberty - won't have secondary sex characteristics and won't get facial/pubic/axillary hair - epiphyses close late, so tend to be long-limbed

Acromegaly etiology

Hypersecretion of of GH, d/t pituitary adenoma GH --> liver --> IGF1-->acromegaly

Presentation of pheochromocytoma

Hypertension - sustained (unlike adults, more paroxysmal) - get associated HA, palpitations, abd pain, dizziness with the HTN Labs: - elevated blood and urine catecholamines (urine VMA and metanephrine) The primary catecholamine in kids is NOREPI! (contrast to adults, epi) Mgmt: preoperative alpha and beta blockers

Electrolyte abnormality in DiGeorge

Hypocalcemia - in 60% of newborns - resolves on its own

Electrolyte abnormalities that can cause rhabdo

Hypokalemia Hypophosphatemia Not always evident at diagnosis b/c recently broken open cells release K and phos.

Diuretic abuse lab findings

Hypokalemic metabolic ALKalosis

Surreptitious vomiting lab findings

Hypokalemic metabolic ALKalosis

The finding mostly closely associated with poor outcome in patients with increased ICP is:

Hypotension

Most common brain tumor to cause precocious puberty

Hypothalamic hamartoma - ectopic neural tissue that contains GnRH-secretory neurons

Tay-Sachs disease

Hypotonia, exaggerated startle, cherry-red spot on the retina - see progressive weakness beginning 3-6 mos, loss of milestones at 6-10 mos Contrast to infantile Gaucher: hepatosplenomegaly, pancytopenia, CN palsies, hyperreflexia, spasticity Contrast to Niemann-Pick type A: hepatosplenomegaly

Diagnosis of acromegaly

IGF-1 level NOT GH level b/c secreted in pulses

Risk factors for ovarian cancer

INCREASED: - Family hx - no kids - BRCA (40% risk BRCA1, 10-20% risk BRCA2) - Lynch syndrome (12% risk) DECREASED: - OCPs - tubal ligation - breastfeeding - early first pregnancy - # of pregnancies (10% decreased risk with each)

Tumor lysis tx

IV fluids (6L/day), loop diuretic to maintain UOP if needed, and Rasburicase (preventative)

Treatment of parvovirus B19-induced red cell aplasia

IVIG

Treatment of ITP

IVIG and steroids Diagnosis of exclusion Can present with: - mild to severe bleeding - otherwise normal blood counts - no other organ dysfunction

Sequelae of TORCH infections

Most common: toxoplasma = vision loss CMV = hearing loss

SLE heart manifestations

Most common: pericarditis Others: - myocarditis - valve disease (Libman-Sacks endocarditis) - premature CAD

A1c vs fasting BG for diagnosis of DM II

If A1c is high but fasting BG is normal, should repeat the A1c a second time to ensure diagnosis If A1c and FBG are elevated, no need to repeat

Treatment of Shigella

If Sxs are severe, should treat with Cipro even prior to stool culture results If mild sxs and + culture, should treat with Ciprox 3 days to hasten clearance of bacterial shedding and reduce spread to others (even if diarrhea has resolved).

Cystic pancreatic ca

If a cystic structure, needle aspiration isn't adequate for dx. Should have surgically removed, which will be diagnostic and likely also curative.

Treatment of strep throat with allergies

If anaphylaxis to amoxicillin: - Cannot use Keflex if true anaphylaxis (could if only a mild reaction) - Azithromycin is the next best choice - if there is macrolide resistance in the area, then use Clindamycin

When to refer to allergy for food allergy testing

If at least one of these: - persistent atopic dermatits despite optimizd mgmt and topicals - reliable history of immediate rxn after ingestion of a specific food Note: kids with sensitive skin can also have face reactions to more irritating foods (ketchup, strawberry, citrus, pasta sauce). Must differentiate from allergic reaction.

Meconium aspiration syndrome

If baby not vigorous: - intubate and suction below cords for NO MORE than 5 seconds - if no meconium retrieved, do not repeat - if meconium retrieved and HR >100, repeat suction - if meconium retrieved but HR <100, give PPV If baby vigorous: suction nose/mouth only CXR: barrel-shaped chest, common to have pneumothorax Often hypoxic w/in 1st hour of birth

Retinoblastoma associations

If bilateral, ALWAYS hereditary hereditary form also associated with: - osteogenic sarcomas - soft tissue sarcomas - melanoma

Salmonella infection

If child, esp younger than 1, is very ill (dehydrated), should treat pending blood cultures in case of bacteremia - Use Rocephin

Work up of infants with wheezing

If doesn't improve with albuterol, and occurs most days, need to think of other things, including GERD and congenital anomalies (TEF, aspiration, etc) Work up: barium swallow

Initial evaluation of acute glomerulonephritis

If dysmorphic red cells and red cell casts, suspicious for acute GN If suspected, should have urgent kidney biopsy - should not delay by repeating in a week Should not give steroids without a diagnosis

Routine breast cancer follow up

If early-stage, recommend mammography every 3-6 mos, then spaced out to Q6-12 mos. Q1 year at the 5 year mark. No need for other imaging (PET, CT, bone scans) or labs (tumor markers, etc.)

Management of burn patients

If even subtle airway compromise, should intubate b/c will likely worsen Stridor is an indication for immediate intubation in a thermal airway injury

Herpes infection

If having cold sore, can have associated erythema multiforme. Can also have this with mycoplasma. If no signs of mycoplasma, can treat the patient with acyclovir

Management of pregnant patients with hx blood clots

If hx idiopathic VTE, should have prophylactic anticoagulation antepartum and postpartum - low (prophylactic) dose or intermediate-dose Lovenox during pregnancy and 6 weeks postpartum

Hypertension in pregnancy

If hypertensive at <20 weeks, more likely chronic HTN than gestational hypertension (in normal pregnancy, BP actually DROPS during the first trimester)

SVC syndrome

Most commonly associated cancers: - lung ca - lymphoma - mediastinal germ cell tumors Symptoms: - swelling of face, neck, arms, worse when supine - cough - dyspnea - hoarsenss (laryngeal edema) - headache (2/2 increased ICP) Exam: - periorbital and arm edema - facial plethora - elevated JVP Tx: radiation (usually)

Management of unknown GBS

If mother is treated (PCN, ampicillin, or Ancef 4 or more hours before delivery), can observe for 48 hours w/o labs. - even if ABX weren't adequate, if >37 weeks or rupture <18 hours, can still observe Reasons for labs: - inadequate ABX AND - <37 weeks or >18 hours rupture

Management of severe eczema with food allergies

If multiple food allergies, should use nutrition replacement. Options: - protein hydrolysate formula (protein allergens broken down, too small for body to react to) - soy milk (good option for milk and wheat allergies, but NOT if concomitant zinc deficiency - soy binds zinc in the gut and prevents absorption) - almond milk is an option, but has cross reactivity with peanut allergies

Management of hypertensive emergency in kids

If needing a continuous infusion antihypertensive, choose either Labetalol or Nicardipine. Nipride isn't first line due to cyanide toxicity

Cervical radiculopathy management

If neuro symptoms are progressive and obvious compression on imaging, should be referred for surgery to avoid permanent loss of function. If no progressive neuro symptoms, should to PT, consider local steroid injection

Treatment of gastroesophageal cancers

If no distant mets, should have resection + perioperative chemo (3mos before, 3 mos after)

Treatment of GERD

If no response to high dose PPI for 8-12 weeks, should get endoscopy looking for alternative diagnosis Should also have endoscopy in men with long-standing (>5 years) symptoms

Work up of bleeding problems

If normal PT/PTT and story c/w vWD (autosomal dominant inheritance of mucocutaneous bleeding) should get von Willebrand panel (NOT bleeding time, which is nonspecific with low sensitivity)

Evaluation of leg arterial insufficiency

If normal resting ABIs, can get exercise ABIs if high clinical suspicion - a decrease in the ABI of 20% immediately after exercise is diagnostic of PAD. Use angiography in anticipation of planning surgery, not to diagnose PAD.

Asthma tx troubleshooting

If not responding to inhaled medications, before adjusting check technique - poor technique is a common cause of lack of response to therapy

Diagnosing obscure GI bleeding

If not seen on repeated scopes or capsule, angiography and tagged RBC scan both options. Angiography requires brisker bleeding, and is therefore less sensitive than tagged RBC.

Management of melanoma brain mets

If only one, or a few, mets --> surgical resection (or stereotactic radiosurgery if available). This is the case even if there are mets elsewhere in the body, as long as they aren't causing symptoms.

Chronic treatment of gout

If over-producer: - Allopurinol or Febuxostat If under-excreter - Probenecid - cannot use with impaired renal fxn b/c requires GFR to work Start chronic meds only after flare has resolved. - Goal UA 5-6 - Decrease intake of beer, distilled beverages (wine ok), liver, sweetbreads, sugary drinks (diet soda ok)

Impetigo

Yellow/crusted skin lesions Staph or Strep. If staph, has exfoliative toxin that can lead to superficial blister formation Treatment: TOPICAL MUPIROCIN (not Bacitracin d/t high rate allergic contact dermatitis). If widespread or complicated, oral Keflex.

Corneal abrasion management

If small: topical ABX ointment (better than drops). Ophtho f/u not needed NO benefit to pressure patch topical steroid contraindicated

Diagnosis of thrombotic states

If strongly thrombophilic (clot prior to age 50), r/o all inherited conditions. If weakly thrombophilic (clot after age 50), less likely inherited condition, look for acquired conditions

Nasal fracture management

If uncomplicated (no extreme deviation, no septal hematoma, no airway obstruction, no ongoing epistaxis) - should be seen by ENT in 3-5 days (if longer, can't be reduced easily)

Potential HSV exposure in a neonate

If well appearing: - culture AFTER 24 hours post-delivery (may be false + prior) - can observe WITHOUT acyclovir pending cultures if baby looks well

Thumb sucking

If younger than 4, reassure If older than 4-5, should see the dentist d/t possible dental issues If persisting to adolescence, may indicate underlying psych issue

Chronic cervical lymphadenitis

If younger than 5 with persistent, nontender, unilateral lymphadenitis despite ABX, nearly CERTAIN diagnosis of nontuberculous mycobacterial infection Should do excisional node biopsy - U/S isn't necessary

Bloody diarrhea with exposure to pork

Yersinia enterocolitica

Refeeding hypophosphatemia

In alcoholics (or anorexics), with normal diet, glycogen level returns to normal, muscle cells start taking up phosphate to build muscle, and serum levels fall

Diagnosis of SLE vs RA

In both: - autoantibodies - sicca symptoms - serositis (including causing pleural effusions) - synovitis in RA: - bone erosions - Felty syndrome: anti-neutrophil antibodies and neutropenia in SLE: - leukopenia (but not neutropenia) - antiphospholipid Ab leading to miscarriages

RA patients who should get DMARDs early

In general, more aggressive disease, e.g.: - constitutional symptoms - progressive synovitis - rheumatoid nodules - vasculitis - extraarticular manifestations - high ESR - high RF - joint space loss and erosions - HLA-DR4 If these symptoms are not quickly controlled by DMARDs, biologics should be added

Chronic interstitial nephritis as cause of ATN

Most commonly due to chronic analgesic use: patient with history of frequent pain, has sterile pyuria and elevated creatinine - See papillary necrosis, sometimes seen on CT Can also be caused by: - heavy metals - renal outlet obstruction - sjogren - sickle cell - myeloma - lithium

Choices of emergency contraception

Most effective hormonal method: ulipristal acetate, Rx only, effective up to 5 days after sex A single dose of levonorgestrel is an option, OTC, but only for 72 hours post IUD insertion option: Cu only, not Mirena

Young women with nausea

always suspect pregnancy, including: - history of seizures on an AED and an OCP - the OCP will be less effective

Osteosarcoma

Most common overall bone cancer (Ewing is more common in children <10) - most commonly occurs during adolescent growth spurt - usually in METAPHYSEAL region of long bones, invades the medullary cavity Presentation: pain/swelling - deep bone pain, night time awakening, palpable mass, xray with a lesion SUNBURST appearance on xray (classic, not diagnostic) Workup: MRI entire bone prior to surgery, plus chest CT and bone scan for staging Tx: chemo + surgery (5 year survival 65-75%) - usually get preoperative chemo - distant bone mets or lung mets have poor prognosis

post-antibiotic effect

aminoglycosides (Gent included) will be bactericidal even after their levels fall below the MIC.

Management of short-gut

In post-op period, there is a surge of gastric acid which inactivates pancreatic lipase and increases diarrhea - All patients post-bowel resection should get post-op PPI

Myelomeningocele is a risk factor for hydrocephalus

In repaired myelomeningiocele, should monitor head circumference weekly until it stabilizes - if increasing rapidly or acting abnormally, should be seen by N/S.

Cerebellar Astrocytoma

Most common posterior fossa tumor of childhood Good prognosis (>90% 5 year survival) Symptoms are cerebellar Treat with resection, radiation if cannot completely resect, chemo in infants only (to delay need for radiation)

Unna boots

Multilayered compression bandages - inner layer of zinc oxide bandage, outer layer of elastic wrap. Good for tx of venous stasis ulcers

DVT ppx after stroke

In the setting of intracerebral hemorrhage, if scans are stable, can start Lovenox of subQ heparin on HD#4

Steroid-induced osteoporosis

In women >50 needing steroids, even if otherwise low risk of fx, should give Ca, Vit D, and bisphosphonate to prevent osteoporosis IF STEROIDS >3 MOS AT 7.5 MG/DAY

Pseudoxanthoma elasticum

Involves skin, blood vessels, eyes - angioid streaks on fundoscopic exam - get recurrent upper GI bleeds - autosomal recessive

Hemophagocytic lymphohistiocytosis (HLH)

Inappropriate, prolonged activation of macrophages and lymphocytes Primary HLH: before age 1, associated with consanguinity Secondary HLH: usually associated with EBV or bacterial infection Get lesions containing activated macrophages and NK cells that release cytokines and cause multiorgan dysfunction (liver, spleen, lymph nodes, bone marrow, CNW) Presents with fever, HSM, LAD, rash, seizures Labs: pancytopenia, hyperferritinemia, hypertriglyceridemia Diagnosis (need at least 5): - fever - splenomegaly - cytopenia of 2 or more lineages - high triglycerides or low fibrinogen - hemophagocytosis without evidence of malignancy - massively elevated ferritin - low/absent NK cell activity - elevated IL-2 receptor (soluble CD25) Treat with steroids + etoposide, add MTX for CNS disease.

Polycythemia vera

Increased red cell mass (without excess EPO) - must exclude reasons for elevated Hgb (hypoxemia, COPD, smoking, R--L shunt, etc.) and must document normal EPO level - Sxs: often have elevated WBCs and plts as well, can have erythromelalgia, itching after hot shower, gout, splenomegaly - increased likelihood of clotting Treatment: phlebotomy to Hct <45%, low dose ASA to prevent clotting

Hypertension in NF-1

Increased risk of renal artery stenosis

Lupus and pregnancy facts

Increased risk of: - spontaneous abortion - neonatal lupus - infantile thrombocytopenia - infantile heart block (d/t anti-Ro/SSA Ab)

Avascular necrosis

Increased risk with: chronic steroids, EtOH, sickle cell, pregnancy, HIV, Gaucher disease, hypercoagulable states, lupus - increased risk with femoral neck fx or traumatic hip dislocation - diagnose early with MRI - if caught early, surgery can prevent need for hip replacement - HIGH risk of b/l AVN even if asymptomatic, so should image both hips

Monitoring in patients with FAP

Increases risk of colon ca, also ampullary ca Typically due colectomy Then, will require routine upper endoscopy to look for ampullary ca

Mechanism of thiazide diuretics

Inhibits the Na/Cl cotransporter in the distal tubule Promotes reabsorption of calcium (opposite of loop diuretics) Have to be filtered into the kidney to work, so not effective if low GFR

Mechanism of Spironolactone

Inhibits the Na/K ATPase in the principal cells of the distal tubule --> less Na is reabosrbed leading to diuresis

Howell-Jolly bodies

Indicators of splenectomy or functional asplenia.

T cell NHL

Indolent and aggressive types Peripheral types: Mycosis fungoides/Sezary syndrome --> disease in the skin, later goes to the lymph nodes. Control early on with photochemotherapy Aggressive form: T cell DLCL, treat with CHOP

Cluster headache treatment

Indomethicin (NOT carbamazepine - that is trigeminal neuralgia)

Treatment of ALL

Induction, consolidation, and maintenance phases Usually involves: Prednisone, vincristine, daunorubicin, often with cyclophosphamide, L-asparaginase - usually due intrathecal chemo d/t CNS disease, or for prophylaxis, sometimes also brain radiation If unfavorable features, consider BMT

ALL treatment

Induction, consolidation, maintenance, CNS prevention - usually get 3 years of therapy - induction with vincristine, steroid, asparaginase. Add doxo or daunorubicin if higher risk at diagnosis. 95% will have remission with induction - everyone gets CNS chemoprophylaxis - LP with MTX usually. Overall, 90% cure rate. Will have 25-30% relapse rate - usually in the bone marrow.

Treatment of AML

Induction: 7+3 (7 days ara-C, 3 days Daunorubicin) Consolidation: usually longer courses of the above Can stem cell transplant for age >60. Should consider if: - relapsed - failed to achieve remission - poor-risk cytogenetics

Clinical findings of DI

Infants: poor feeding, growth failure, irritability, high fever Older kids: new onset enuresis

Chorioamnionitis

Infection of amniotic fluid Organisms: - group B strep - E coli - Listeria

Paronychia

Infection of the finger around the cuticle (Distinguish from felon = infection of the pulp space on the palmar side of the distal phalanx) Causes: thumb sucking, trauma, chronic water immersion Have red, painful nail fold. Usually S aureus. Can be chronic in immunosuppressed, then usually 2/2 candida Must distinguish from herpetic whitlow - usually based on history and exam (thumb sucking with oral lesions, professional exposure - dentist, anesthesia). I&D will make herpetic whitlow worse! Tx: I&D, ABX

Interstitial cystitis

Inflammation of the bladder leading to trabeculae formation and urinary complaints (frequency, dysuria) - Diagnosis is clinical, need UA, culture, PVR to rule out other etiologies - Cystoscopy isn't required but can help

Diagnosis of rheumatoid arthritis

Involves wrists and small hand joints symmetrically. The swelling can lead to carpal tunnel syndrome (the most common neurologic complication of RA) Associated with prolonged (>60 min) morning stiffness/fatigue

Seronegative spondyloarthropathies features

Inflammatory arthritides with negative ANA and RF: - ankylosing spondylitis - Reactive arthritis (Reiter syndrome) - Psoriatic arthritis - enteropathic arthropathy associated with IBD Features: - involvement of spine and SI joints - asymmetric oligoarthritis, usually lower extremities - enthesopathy (inflammation at the insertion site of a ligament or tendon) - sausage digits - often associated with HLA-B27, but not specific enough for diagnosis so do NOT diagnose with this (don't pick it on the test) - If pitted nails, think psoriasis

Causes of osmolar gap WITHOUT anion gap

Ingestions (Isopropyl alcohol, Acetone) Noningestions (Mannitol, Sorbitol, Glycerol)

Mechanism of loop diuretics

Inhibit Na/Cl/K cotransporter. diuresis results b/c osmotic gradient isn't set up to allow water reabsorption Cause loss of Ca Remember, can cause permanent ototoxicity

Mechanism of gastric injury from NSAIDs

Inhibition of prostaglandin synthesis - prostaglandin E stimulates gastric mucous production which protects the stomach - without prostaglandin, the mucosa is exposed to gastric acid, increases risk of ulcers

Clinical picture of salicylate overdose

Initial respiratory alkalosis Then, mixed respiratory alkalosis/gap acidosis

Premature adrenarche

Isolated pubic hair (or body odor, axillary hair) before age 8 (girls) or 9 (boys). No gonad involvement - rule out androgen excess: check testosterone, DHEA-S, androstenedione, 17-OHP, and bone age - if labs abnormal, would worry about late-onset CAH or adrenal tumors

Amniotic band sequence

amniotic bands become adherent to the body. Can get: - disruptive clefts of the face and palate - constriction rings of the limbs or digits - amputations

Asthma severity classification

Intermittent: day <2x/week, no night sxs, albuterol <2x/week Mild persistent: day >2x/week, night 1-2x/month, albuterol >2x/week Moderate persistent: daily day sxs, night 3-4x/month, daily albuterol Severe persistent: ongoing day sxs, night >1x/week, multiple x/day albuterol 2 or more exacerbations per year = at least mild persistent

Hypoglycemia management

Intervene if: - BG <40 during first 24 hours - BG <50 AFTER 24 hours Treat with 2mL/kg of D10

Lithium interactions

Intoxication causes = ataxia/incoordination, muscle weakness, N/V/D, tinnitus, polyuria, and drowsiness/confusion Drugs that DECREASE lithium excretion (precipitating intoxication) = ACEi, thiazides, NSAIDs

Most common cause of secondary thrombocytosis

Iron deficiency anemia

Transfusional hemosiderosis

Iron overload 2/2 chronic, repeated transfusions - after 20 or more units (~20 grams of iron) Symptoms: glucose intolerance, cirrhosis, cardiomyopathy, hypogonadism

Sever disease

Irritation of the calcaneal apophysis - get waxing/waning heel pain for 1-2 years - no long term consequences, so can exercise as tolerated - recommend padded heel cups, ice, NSAIDs, stretching Diagnosis: pain when squeezing medial and lateral aspects of heel - will complain of pain over medial, lateral, or posterior aspect of heel

Evaluating acid base disorders

Is more than one problem going on? 1. Determine serum pH 2a. What is the anion gap 2b. What is the change in AG (AG-10) 3a. What is the expected bicarb (25-change in AG) 3b. Compare expected and actual bicarbs - measured<expected = non-gap acidosis - measured>expected = metabolic alkalosis 4a. What is the expected pCO2 (15+measured bicarb) 4b. Compare expected and actual pCO2 - actual>expected = respiratory acidosis - actual<expected = respiratory alkalosis

MedStudy table for evaluating acid-base disorders

Is more than one problem going on? 1. Determine serum pH 2a. What is the anion gap 2b. What is the change in AG (AG-10) 3a. What is the expected bicarb (25-change in AG) 3b. Compare expected and actual bicarbs - measured<expected = non-gap acidosis - measured>expected = metabolic alkalosis 4a. What is the expected pCO2 (15+measured bicarb) 4b. Compare expected and actual pCO2 - actual>expected = respiratory acidosis - actual<expected = respiratory alkalosis

Premature thelarche

Isolated breast development by age 2 - no other signs of puberty - diagnosis of exclusion, must rule out underlying condition: check estradiol, LH, and FSH levels, and get a bone age. Rule out exogenous estrogen exposure (cream, pills, etc) - after diagnosis, monitor for further signs of puberty - if occurs AFTER age 3, usually not benign

Takayasu arteritis

Large vessel vasculitis Young women of Asian descent presents with claudication or renovascular hypertension (abdominal bruit). Can have precedent FUO diagnosis: MRA Tx: steroids, CCBs (prevent vasospasm) Tends to recur, difficult prognosis

AML mutations

Karyotypes: - Favorable: t(8;21), t(15;17), inv(16) - Intermediate: normal karyotype, t(19;11) - Unfavorable: inv(3), -5/del(5q), -7 Mutations - Favorable: NPM1 gene - Unfavorable: FLT3 mutation

Causes of nephritic syndrome with normal complement

Kidney presentation: - IgA nephropathy - Alport Systemic presentation: - Goodpasture - other vasculitis - TTP/HUS

Nephritic syndrome with normal complement

Kidney presentation: - IgA nephropathy - Alport Systemic presentation: - HSP - Goodpasture - other vasculitis - TTP/HUS

Causes of Nephritic Syndrome with low complement

Kidney presentation: - post-infectious GN - Membranoproliferative GN Systemic presentation: - SLE - endocarditis - cryoglobulinemia

Nephritic syndrome with low complement

Kidney presentation: - post-infectious GN - Membranoproliferative GN Systemic presentation: - SLE - endocarditis - cryoglobulinemia

Thinking through non-gap acidosis

Kidney vs not kidney etiology: is the kidney excreting enough acid load to make up for the low bicarb? Acid leaves the kidney as ammonium. Not directly measured. Urine ammonium ~ urine osmol gap/2 Osmol gap = measured-calculated Calculated urine osmol = 2(UNa + UK) + UBUN/2.8 + Ugluc/18 If NON-kidney etiology, amoninum level should be >80. Kidney etiology = Type I RTA Non-kidney etiology = laxative abuse

Evaluating a nephrotic syndrome

LOW complement suggests membranoproliferative of lupus - poor prognosis compared to: minimal change

Adynamic bone disease

Labs: - high/normal phos - low 1,25 vit D - low PTH - calcium is normal or high Most common bone dz in ESRD patients - over suppression of PTH by phos-binders Disease is asymptomatic, but can lead to fractures and hypercalcemia

Iron deficiency anemia

Labs: - microcytic (MCV <80) - hypochromic (decreased MCHC) - Low retic - low Fe and ferritin - high TIBC

Diagnosing lactase deficiency

Lactose breath hydrogen test

Height in normal child

Length increases by 50% at 1 year Length doubles by 4 years Length triples by 13 years After age 2, should grow 2 inches/year until adolescence

Giant Cell arteritis (temporal arteritis)

Large vessel vasculitis Associated with polymyalgia rheumatica Demographics: age >50 (average age 70), female:men 3:1 Path: multinucleated giant cells infiltrate blood vessels Sxs: temporal headache, double vision, amaurosis fugax, scalp tenderness, jaw claudication. Can lead to unilateral blindness if not treated Atypical presentation: fever of unknown origin, failure to thrive, anemia Diagnosis: ESR>60 (always). Confirm dx with temporal artery biopsy (can be done up to 10-12 days after starting steroids) Treatment: start steroids as soon as suspected, taper steroids once sxs resolving.

Aortitis

Large vessel vasculitis Associated with systemic diseases: - syphilis (aortitis is a tertiary manifestation, associated with aneurysm formation) - endocarditis with mycotic aneurysm - giant cell arteritis - spondyloarthropathies

Lead nephrotoxicity

Lead can cause kidney injury (think worker in battery factory). Get chronic tubulointerstitial nephritis, low grade proteinuria - Can get blood lead level, but may be normal (most lead resides in the bones, esp if no longer being exposed) - Should get chelation mobilization testing (EDTA mobilizes lead in the tissues, then can measure it in the urine) - If high levels detected, would then administer chelation

Management of ankylosing spondylitis

Leads to ossification of intervertebral disks, ligaments, and joints of the spine, making the spine more rigid. Can then get vertebral fractures more easily If patient with back pain, should get xray to r/o vertebral fx.

Stroke distributions

Leg >arm = ACA arm >leg = MCA

anti-centromere

Limited scleroderma - increased incidence of PAH, improved survival

Skull fractures after delivery

Linear: xray not indicated if no neuro findings. Usually benign. f/u xray in 2-3 mos to ensure healing Depressed: associated with forceps usually. Usually neurologically normal. Basilar: POOR prognosis, often permanent sequelae

Common drug to cause nephrogenic DI

Lithium

Spur cells (acanthocytes)

Liver disease

Target cells

Liver disease Thalassemia Hemoglobin C

Mycobacterium marinum features

Lives in water, infection through swimming, fish, boating Infection with granulomatous skin lesion --> lymphatics --> infects joints, esp small joints of the hands

Trisomy 13 (Patau syndrome)

associated with older maternal age Common findings (midline defects): - orofacial cleft - holoprosencephaly - heart defects (80%) - genital anomalies - abdominal wall defects - cutis aplasia Median survival is 2.5 days, 80% die in first month, only 5% make it to 6 mos

Noonan Syndrome

Looks like Turner with short stature, webbed neck, pectus - right sided congenital heart disease - high frequency sensorineural hearing loss - boys have cryptorchidism and small testes - increased risk of ALL and CML Contrast to Turner: - intellectual disability in Noonan vs learning disability for math in Turner's - Pulmonic valve (noonan) vs aortic valve (Turner)

Etiology of lab abnormalities in Addison's dz

Low aldosterone leads to decreased Na resorption in the kidneys The Na/H and Na/K transporters are dumping Na, so therefore reabsorption H and K = end up with hyperkalemia and metabolic acidosis

5p- deletion (Cri-du-chat syndrome)

associated with the cat's cry (d/t anomalies of the larynx) Features: - moon face (widely spaced eyes) - hypotonia - short stature - high arched palate - wide/flat nasal bridge - cardiac anomalies (33%)

missed question: melphalan

assoicated with secondary leukemias

anti-dsDNA antibody

Lupus

Tuberculous pleural effusions

Lymphocyte-predominant, exudative effusion - glucose <60 - pH <7.2

Autism screening

MCHAT at 18 and 24 mos Concerning history: - no social smile by 6 mos - lack of make believe or symbolic play

MDS vs myelofibrosis

MDS: - cytopenias + evidence of DYSPLASIA in peripheral blood cells Myelofibrosis: - SPLENOMEGALY almost always

Subcutaneous vaccines

MMR, Varicella, IPV

Causes of anion gap acidosis

MUDPILES - Methanol - Uremia - DKA - paraldehyde - Isoniazid/Iron - Lactate - ethylene glycol - Salicylates Also: bicarb wasting states (diarrhea, RTA)

Antibiotic to treat pertussis

Macrolids (Azithromycin, Erythromycin, clarithromycin)

Issues in infants of diabetic mothers

Macrosomia Hypoglycemia Hypocalcemia Hyperbili (d/t baby's large size) Hypertrophic CM (usually resolves by 3-6 mos) RDS (insulin blocks surfactant production) Congenital anomalies associated (usually d/t poor BG control before conception and in early pregnancy) - VSD - neural tube defect - GI atresia - situs inversus - GU anomalies

Criteria for diagnosis of hepatorenal syndrome

Major criteria: - low GFR - no sustained improvement in renal fxn despite stopping diuretics and giving albumin - protein <500 mg/day, and normal renal U/S Also will likely have Na <130 UOsm >serum Osm urine Na <10

Antibiotics in neutropenic fever

Make sure to cover for pseudomonas Vanc not needed, apparently, if the child appears well b/c we don't want to induce VRE Note: Cefotaxime wouldn't cover pseudomonas A good regimen: Zosyn and gentamicin A bad regimen: Vanc and Cefotax

Membranoproliferative GN

Nephritic, low complement - thickening of glomerular BM and hypercellularity d/t immune deposition - common cause of chronic GN in older children and young adults 3 potential presentations: 1. acute nephritis similar to post-strep with preceding URI. Compare: C3 will be low LONGER than 8-10 weeks 2. incidental findings of proteinuria and hematuria 3. nephrotic syndrome (30-50%) Treatment: controversial. If significant proteinuria often good to do 3-10 year course of steroids

Chondrocalcinosis

Manifestation of calcium pyrophosphate deposition Crystals deposit in the cartilage, or can get released causing pseudogout. Can get low phos, mag, hypothyroidism, hemochromatosis, and high PTH - should screen for this. Can see on xray. If otherwise asymptomatic and labs ok, NTD. If Sxs, use NSAIDs, corticosteroids, or colchicine

Lyme arthritis

Manifestation of stage III Lyme disease - occurs a few months to 1-2 years after tick bite in 50% of untreated people (many were asymptomatic early on) - Asymmetric arthritis, affecting only 1 or a small # of large joints - symptoms can come and go for years Diagnosis: serum ELISA for lyme IgG, then confirmatory Western blot (required d/t false positives from lupus, RMSF, RA, syphilis) Can have ongoing arthralgias after treatment - not an indication for further ABX

Management of kerion

Manifestation of tinea capitis - often has occipital, posterior auricular, cervical adenopathy - will have combination of alopecia, scale, and adenopathy Treat with Griseofulvin (or Terbinafine)

Presentation of hyperparathyroidism in children

Manifestations of hypercalcemia: - muscle weakness - N/V - constipation - fever - bed wetting/polyuria

Most common congenital GI defect causing chronic blood loss

Meckel Diverticulum

Langerhans cell histiocytosis

Median age 2.5 years Presentation: Gingival hypertrophy, oral ulcers, skin rash (bad cradle cap), lytic bone lesions (often painful) Diagnosis: biopsy with many Langerhans cells. Confirm with CD1a by immunophenotyping or Birbeck granules on EM High risk if located in liver, spleen, lungs, bone marrow. Treatment: low risk - prednisone, vinblastine High risk - add mercaptopurine. High risk organ involvement has 50% mortality risk

Acute hemolytic transfusion reaction

Medical emergency - have rapid hemolysis - usually d/t ABO incompatibility Management is supportive Diagnosis with Coombs, hemolysis labs

Churg-Strauss

Medium-artery vasculitis Necrotizing, pulmonary-renal vasculitis - eosinophilic granulomas - ALWAYS have hx asthma, +/- sinus disease or allergies Labs: peripheral eosinophilia, p-ANCA, anti-MPO Treatment: steroids, cyclophosphamide (if needed), usually have good response to steroids

Rhabdomyosarcoma

Most common soft tissue tumor of childhood - usually sporadic, but can be associated with Li-Fraumeni syndrome (a p53 mutation) Histology - Embryonal type (60-70%) - subtypes botryoid (arises in vagina, bladder, nasopharynx, middle ear) and spindle cell - Alveolar (20-30%) - usually arises in trunk and extremities, worse prognosis Presentation: mass, maybe with pain, most commonly in head/neck, followed by GU tract Treatment: - surgery, then post-resection staging based on amt of residual disease - ALL patients get chemo (VAC: vincristine, actinomycin D, cyclophosphamide). Higher risk may also get other agents. - radiation is often used

IgA nephropathy features

Men and white/Asian people (rarely black) Presents after URI, can have microscopic or gross hematuria, with only mild proteinuria

Calculation of ideal body weight

Men: 50 kg + 2.3 kg for each inch over 60 Women: 45.5 kg + 2.3 kg for each inch over 60

Neurosyphilis features

Meningovascular syphilis presents like aseptic meningitis - will have elevated CSF protein but only mildly elevated WBC count (100, instead of many 100 in bacterial) - CSF VDRL is only 50% sensitive, so negative doesn't rule it out.

Other kidney neoplasms

Mesoblastic nephroma - most common congenital renal disorder, a BENIGN tumor Renal cell carcinoma - very rare in childhood, would have abdominal pain and hematuria

Contraindications to oral DM drugs

Metformin: men with Cr >1.5, women with Cr >1.4 (or GFR <30) Pioglitazone/rosiglitazone: stage III and IV CHF

Methacholine test to confirm diagnosis of asthma

Methacholine challenge test should result in 20% decrease in FEV1

18q- deletion (de Grouchy Syndrome)

Microcephaly and developmental delay Classic finding: atretic or narrowed ear canals Others: - frog-like position with legs flexed/externally rotated - depressed midface - protruding mandible - deep-set eyes - carp-like mouth

Tuberculous arthritis

Mildly symptomatic chronic knee effusion, persists for years - can be either the primary infection or a reactivation - usally do not have associated active pulmonary TB Joint fluid: - mildly inflammatory, 20,000 WBCs Diagnosis: must biopsy the synovium (granulomas on path) - acid fast smears/cultures with low sensitivity. Also can send TB PCR of the fluid - very sensitive Treatment: same as active pulmonary TB: 4 drugs x 2 mos, then 2 drugs x 4 more months

Spina Bifida Occulta

Midline defect of the vertebral bodies without protrusion of the spinal cord or meninges - usually asymptomatic and of no consequence Often with patch of hair, skin color change, or dermal sinus over the area Can diagnose with plain xray Usually doesn't require intervention

Diastasis recti

Midline gap in the rectus muscles Visible with crying Usually closes after 1st year Often associated with umbilical hernia

Severity of obstruction based on FEV1

Mild - >70% Moderate - 50-70% Severe - <50%

Pulmonary Histoplasmosis

Mild forms do not require treament, self limited. Treat if immune compromised, severe illness results. Treat with Itraconazole, second line is Ambisome

Dementia with Lewy bodies features

Mild parkinsonism + prominent visual hallucinations Also get dream enactment behavior

Most common type of nephrotic syndrome in children

Minimal Change Disease

Ehrlichiosis

Missouri fever, fatigue PANCYTOPENIA minimal lymphadenopathy diagnose with titers

Kearns-Sayre syndrome

Mitochondrial DNA mutation Triad of findings: ptosis, ophthalmoplegia, ragged-red fiber myopathy Also: cardiomyopathy, DM, cerebellar ataxia, deafness Can begin in infancy, childhood, or adolescence

Brain mets

Most common in: lung, breast, renal cell, melanoma, gastric Management: - steroids if + neuro findings (to decrease edema) Stereotactic radiosurgery if: - 3 or fewer brain mets, ALL <3 cm in size - otherwise, whole brain radiation (palliative only)

Limb abnormality syndromes

Mobius Syndrome Rubinstein-Taybi Syndrome

Dermal melanosis is...

Mongolian spot usually on buttocks, but can be on back, shoulders, or extremity In extensive lesion, consider underlying Hurler syndrome or GM1 gangliosidosis

Nonstress Testing

Monitoring of fetal heart rate, looking for variability with fetal movement Reactive test = 2 accelerations of HR in 20 minutes If nonreactive, 20% of cases will have poor fetal outcome (specificity is low, so BPP often added) BPP: 1. fetal movement (on NST) 2. fetal tone 3. fetal reactivity 4. fetal breathing 5. amniotic fluid volume

Pigmented Villonodular Synovitis

Monoarticular, benign synovial tumor - Get recurrent hemarthrosis, usually in the knee, in young adults - recurrent bleeding results in darkly pigmented joint fluid - dx with MRI - Tx: synovectomy or radiation if recurrent

For twin-twin transfusion to occur, what type of placenta must exist?

Monochorionic

Hemangioendothelioma

Most common benign tumor of the liver in childhood - no need to biopsy - will have NORMAL AFP - usually regress without treatment

Ureteropelvic Junction (UPJ) obstruction

Most common cause of hydronephrosis in childhood - presents as either palpable mass (infants) or pain (children) Management: - in infants, wait 4-6 mos, may improve If not improved by ages 4-5, do pyeloplasty

Trochanteric bursitis

Most common cause of lateral thigh pain - pain with lying on that side, draping the affected leg over the nonaffected leg, or bearing weight. - Tx: NSAIDs, heat, PT, steroid injections

Rotator cuff injuries

Most common cause of shoulder pain, but can also present with weakness only - Can be spontaneous in age >50 - Pain with overhead reaching and night pain Exam: - partial tear with painful arc syndrome, maybe weakness (similar to subacromial bursitis, have high suspicion) - complete tear very debilitating, usually in age >60, unable to abduct arm 2/2 weakness or pain (can get around this by shrugging the shoulder) Dx: start with plain xray, can go to MI Tx: conservative, unless full-thickness in healthy person (should go to surgery)

Drug-induced myopathy

Most common drugs: lipid-lowering, chronic steroids Lipid-lowering: statins, fibrates, and zetia - worst in combination. Will present with muscle pain, maybe proximal m weakness Steroids: presents with muscle pain and weakness, but not CK elevation or abnormal EMG. diagnosis of exclusion

Chiari II malformation

Most common form - 4th ventricle and lower medulla are below the foramen magnum - usually associated with myelomeningocele and hydrocephalus

Bone mets

Most common in: lung, breast, prostate, kidney (also myeloma and NHL) Presentation: pain, typically in large bones with more marrow Diagnose: bone scan to confirm technetium uptake (may need plain films or CT to see some) Tx: radiation (pain relief and fracture prevention)

Mitochondrial disorders

Mother passes mutation to all her offspring, father passes it to none

Hurler-like syndrome with hyperplastic gums is:

Mucolipidosis Type II (I-Cell deficiency)

MURCS

Mullerian duct aplasia renal aplasia cervicothoracic somite dysplasia

Brain abscesses in infants

Multiple abscesses on imaging: think CITROBACTER KOSERI (can also be Serratia, Salmonella)

NSAID effect on kidneys

Multiple, including: - AIN --> weeks-months after starting NSAIDs, can be associated with nephritic syndrome, and renal bx c/w minimal change disease. - ATN --> occurs if underlying volume depletion or CKD, or in conditions of decreased perfusion (CHF). Will have granular casts and elevated FENa - Papillary necrosis --> presents with flank pain - Acute GN --> occurs if the patient has a hypersensitivity vasculitis (urine would look nephritic) - Worsening of prerenal azotemia --> UA will look benign, FENa will be low

Management of PDA

Murmur: systolic, LUSB, radiates to ipsilateral scapula Look for evidence of hemodynamic significance: - heart failure signs - diastolic run off (widened pulse pressure) - eating well - O2 requirement If NO signs, and the PDA is smaller than the branch PAs on TTE (thus not large), ok to observe, will likely close spontaneously

Cancer in polymyositis and dermatomyositis

in 7-10% of PM and 15-20% of DM at the time of diagnosis - no increased cancer risk with juvenile dermatomyositis - boards scenario: the cancer patient is older than 40 and has dermatomyositis - anyone older than 50 diagnosed with either should have age-appropriate cancer screening

11 criterion for diagnosis of SLE

Must have 4 or more of 11: - photosensitivity - Blood changes (anemia, leukopenia) - renal disease - + ANA - + anti-dsDNA, anti-Sm, or APL ab - arthritis - malar rash - discoid rash - neuropsych features (psychosis, seizures) - oral lesions - serositis NOTE: Raynaud's is not a criterion

Diagnostic criteria for lupus

Must have 4/11: - neuro d/o (seizures, psychosis) - malar rash - discoid rash - photosensitive rash - oral or nasal ulcers - serositis (pleural, pericardial, peritoneal) - renal d/o - arthritis - heme issue (hemolytic anemia, leukopenia, lymphopenia, TCP) - immunologic d/o (+APLA, anti-dsDNA, anti-smith) - + ANA

Hereditary Hemochromatosis

Mutation in HFE gene - body continues to absorb Fe despite having enough. ferritin rises and get Fe deposition in tissues Usually autosomal recessive, 1/200 Northern Europeans Classic presentation: cirrhosis, bronze skin, diabetes Typical presentation: middle aged, with fatigue, myalgias, arthralgias. Diagnosis: transferrin sat (Fe/TIBC x 100%). women >45%, men >50%. Then, get Fe studies, genetic testing. Gold standard is liver bx, now used mostly for prognosis. Treatment: phlebotomy to get ferritin 20-50 and transferrin sat <30%, then periodic phlebotomy life-long.

Teardrop cells

Myelofibrosis Thalassemia

Most common organism in septic joint of adolescents/young adults

N. gonorrhea

Alport syndrome features

NEPHRITIC! earliest manifestation (and universal symptom) is hematuria (74% by age 6) - b/l hearing loss develops over the first decade - women are usually asymptomatic carriers

missed question: cisplatin effect

NEPHROTOXICITY should use carboplatin instead of kidneys are an issue

HIV and vaccines

NO live vaccine for CD4 count <200 (Zoster, varicella, MMR, nasal flu)

Treatment of scleroderma

NO medicines change the course of the disease :( - treat for symptoms and organ-specific problems - cyclophosphamide with early lung dz - D-penicillamine for skin disease - treatment specific for Raynaud's and GERD - ACEi as soon as HTN develops to prevent renal crisis (and AVOID steroids, which precipitate renal crisis)

Formula for urine anion gap

Na + K - Cl Normal UAG ~0 Elevated UAG = low ammonium (RTA) Negative UAG = high ammonium (diarrhea)

Antibiotic for septic joint in children

Nafcillin (covering S aureus and S pyogenes)

Signs/symptoms of performance enhancing drugs

Nandrolone (anabolic steroid): hypertension, hirsutism, increased muscle mass Creatine: muscle cramping, diarrhea (increases energy stores for brief, explosive physical activity) Ephedrine: hypertension, NO muscle effect, lethal arrhythmia, seizure, stroke Human growth hormone: increased lean body mass (no effect on sports performance), acromegaly (diabetes, hypertension), NO hirsutism Recombinant EPO: polycythemia, hypercoagulability

Blood in the diaper

in a young infant, often see anal fissure - in this young age this is rarely d/t hard, constipated bowel movements, and thus an alternative explanation for bloody stool should be sought

Gonadoblastoma

in dysgenetic gonads - usually 46 XY or 46XY/45XO karotypes - 80% with female phenotype - often occurs with germinoma - associated with cryptorchidism

Aspirin-exacerbated respiratory disease

Nasal polyps, asthma, aspirin intolerance - in 13-40% of people with nasal polyposis Can consider ASA desensitization followed by long-term daily ASA.

Diagnostic criteria for RA

Need 4 or more: 1. Morning stiffness >1 hour for 6 weeks 2. swelling of wrists, MCPs, PIPs for 6 weeks 3. Swelling of 3 joints for 6 weeks 4. Symmetric joint swelling for 6 weeks 5. Rheumatoid nodules 6. Erosive synovitis xray changes of the hands 7. positive RF

Treatment of Addison's dz

Need glucocorticoid and mineralocorticoid replacement - hydrocortisone is best as it has both properties, prednisone has glucocorticoid only

Diagnosis of tuberculous arthritis of the spine

Need vertebral biopsy

HSP

Nephritic with NORMAL complement 4 classic features: - purpuric rash - abdominal pain - arthralgias - GN with IgA deposition Demographics, peak incidence ages 4-5, usually winter/spring, often preceding URI - biopsy only if severe renal dz - >90% with full recovery

Maternal autoimmune neonatal thrombocytopenia

in mothers who have had ITP - maternal antibodies attack the infant's platelets - lasts 1-2 mos - can give IVIG in the 3rd trimester, and to the newborn if plt <20K.

Diagnosis of Lambert-Eaton

Nerve conduction study: will have improved conduction with brief period of exercise Patient will have proximal limb weakness, decreased reflexes, improved strength with exercise, and autonomc nerve dysfunction (dry mouth, orthostatic hypotension) 50% of patients with malignancy, usually SCLC Etiology is antibody to voltage-gated calcium channels

Meralgia paresthetica

Nerve entrapment of lateral femoral cutaneous nerve Pain over anterior thigh - usually burning pain often 2/2 tight fitting pants/belts on overweight patient

Lipoprotein-Lipase Deficiency

inability to clear dietary fat - get increased chylomicrons - marked hypertriglyceridemia If leave plasma in test tube overnight, will have thick, creamy layer on the top in the morning Presentation: before age 10 with abdominal pain. Infants often have colic - will get eruptive xanthomas, HSM, retinal deposits - usually NOT atherosclerosis

Carcinoid

Neuroendocrine tumor (associated with MEN1!) - 50% appendix, can also be small bowel or rectum - asymptomatic until mets to the liver or lung - produce hormones (serotonin, bradykinin, GH, ACTH, calcitonin, prostaglandin) that cause carcinoid syndrome Carcinoid syndrome: - flushing - valvular heart disease - diarrhea Treatment: - surgery for localized disease (80% cure rate) - symptomatic therapy for metastatic disease --> slow progression, can live for years - use octreotide (Sandostatin) to control sxs, do once monthly injections

Conditions that predispose to brain tumors

Neurofibromatosis 1 (esp optic gliomas) Neurofibromatosis 2 (bilateral vestibular schwannoma) Tuberous Sclerosis (subependymal giant cell tumor - benign but grows big and causes compression) Li-Fraumeni syndrome (gliomas, ependymomas, choroid plexus carcinoma) Turcot syndrome (GBM and medulloblastoma) von Hippel-Lindau (hemangioblastoma of the cerebellum, medulla, and spinal cord)

Who evaluates learning problems

Neuropsych

Management of lung nodules

Nodule = 3 cm or less (>3cm = mass) If low-risk patient (no smoking, asbestos), no f/u for nodule <4mm For high-risk patient, <4 mm nodule requires repeat imaging in 12 mos

Clinical features of primary hyperaldosteronism

Non-diuretic induced hypokalemia Elevated bicarb Hypertension

Beta blocker overdose

Noncardiac effects: hypoglycemia, hyperkalemia, coma, delirium, seizures

Milk recommendations

None until 1 year Whole milk for 1 year old (unless obese, then 2%) Older than 2 should drink skim or 1%

ADPKD sequelae

Nonrenal: - hernias - mitral valve prolapse - diverticulosis - cerebral aneurysms

Digoxin toxicity

Nonspecific symptoms: N/V, abd pain, confusion, weakness, vision changes (color distortion, blurry vision) - can cause multiple types of arrhythmia (classic is bidirectional VT) - if concurrent hyperkalemia, increased risk of mortality Treat with DIGIBIND

Gynecomastia

Normal in puberty: If tanner stages 2-4, tx is reassurance NOT normal in Tanner 1 or 5, worry about abnormal estrogen:testosterone ratio. Work up if: - Tanner 1 or 5 - Age <10 or >16 - chronic illness (liver, thyroid, renal) Should check labs including testosterone, estrogen, LH, hCG, and DHEAS

Gastroschisis vs omphalocele

Omphalocele: COVERED with membrane. through the umbilicus. Can include even liver and spleen. Associated with Beckwith-Wiedemann Gastroschisis: lateral to the umbilicus, NOT covered

Management of Barrett's esophagus

Once identified (by bx), should have repeat endoscopy 1 year later with repeat bx. If ok, can then space out to Q3 years. If dysplasia (vs metaplasia) is identified, would need to consider further management vs esophagectomy

Strabismus in babies

Normal to have intermittent strabismus, but should resolve by 4 mos old. If not, should refer to ophtho

Urinary incontinence diagnoses

Normal voiding with continuous urinary leakage = ectopic ureter Voiding without awareness = sensory deficit Bounding up and down on the soles of the feet = detrusor instability Leakage with cough/sneeze/laugh = stress incontinence

Anemia of kidney disease

Normochromic, normocytic, with low retic count (lacking EPO). - Can measure serum EPO to confirm - Smear may show "burr cells"

Anemia in CKD

Normochronic, normocytic - Treat with EPO-stimulating agents - must replete Fe first for EPO won't work - Goal Hgb should be 10

Antiphospholipid syndrome features

Not always associated with lupus (50% don't have other rheum dzs) - includes patients with lupus anticoagulant, anti-cardiolipin Labs: - normal PT, prolonged PTT, prolonged plasma clot time - PTT NOT corrected with mixing study (not a clotting factor deficiency) - patients are HYPERcoagulable despite the labs Clinical: - at risk for recurrent arterial AND venous thrombosis and spontaneous miscarriages - can have heart valve abnormalities, low plts, livedo reticularis - require life-long anticoagulation if ANY thrombotic event

Carpal tunnel syndrome

Paresthesias over medial n distribution (thumb through middle finger) - sxs can be reproduced by tapping (Tinel) or forced flexion for 20-30 seconds (Phalen) - increased risk with: pregnancy, OCPs, HD, hypothyroid, acromegaly Tx: wrist splint (day and night) for 3-4 weeks Surgery if motor loss or refractory to conservative therapy

xrays in OA vs RA

OA: - osteophytes - ASYMMETRIC joint changes RA: - osteopenia - erosions - SYMMETRIC joint space narrowing

ODD vs conduct disorder

ODD: recurrent pattern of negative, defiant, disobedient, hostile behavior towards authority figures for >6 mos Conduct disorder: ODD features PLUS antisocial activities violating the rights or property of other (lying, stealing, physically aggressive, setting fires, cruelty to animals). Lack of remorse or guilt expressed by the child

Ethosuximide

ONLY for absence seizures

Kidney manifestations of systemic scleroderma

ONLY in diffuse disease - Can get scleroderma renal crisis, now much less common 2/2 ACEi - Renal crisis presents with acute malignant hypertension and renal failure - Classic clinical scenario: young woman presents with acute malignant hypertension and renal failure Starting ACEi early and continue even if renal failure results

Tx of knee osteoarthritis

Obesity is the most modifiable risk factor - tx with weight loss and/or exercise programs. Sustained wt loss of only 15 lb results in symptomatic relief. Do not use things like Celebrex in people with CAD - increased risk of MI

Cushing Syndrome on growth curve

Obesity with POOR height velocity - if height velocity is normal and the patient is obese, isn't Cushing

Inheritance of tuberous sclerosis

most cases are de novo If inherited, it is autosomal dominant but with variable expressivity Note: neurofibromatosis 1 is also autosomal dominant if inherited

47XXX

most common X chromosome abnormality in girls - phenotypically normal - by age 2, have developmental delay - tend to be tall and gangly - normal sexual development

Recognizing posterior urethral valves

Obstructive uropathy picture - issue in the prostatic urethra - Imaging: b/l hydro and bladder thickening - may have type IV RTA (non-gap acidosis with hyperkalemia) - at high risk for dehydration when sick b/c of the renal tubular damage that occurs - after surgical repair, can have some renal dysplasia so require nephrology f/u, and have future risk of bladder dysfxn so continue to follow with Urology

Spontaneous osteonecrosis of the knee

Occurs 2/2 mild trauma in the elderly (60s-70s), more common in women - more likely with knee steroid injections, systemic diseases (SLE) - often resolves spontaneously, conservative management

D-lactic acidosis

Occurs in patients with short gut, will cause GAP ACIDOSIS - Increased delivery of carbs to the colon d/t malabsorption. - colonic bacteria ferment carbs to D and L lactate, but L-lactate is rapidly broken down, D-lactate is not. - Improves with IV dextrose solutions and no PO intake

Folate deficiency in infancy

Often due to goat's milk - poor source of folate (cow's milk and breast milk are good sources) Presentation: - chronic diarrhea - malabsorptioneyuytr

Diagnosis of cancer in patients with lupus

Often have lymphadenopathy However, if new, localized LAD develops, should have LN bx. Have increased cancer risk 2/2 immunosuppressive therapy

Amyloidosis joint disease

Often in patients on long-term HD, get beta-2 microglobulin deposition in the joints - Most commonly involves the shoulder and wrist (get carpal tunnel)

Acute rheumatic fever

Often with polyarthritis Consider in patient with fever, polyarthritis, with associated chorea, erythema marginatum, nodules, or evidence of carditis

Galactokinase deficiency

Only manifestation: cataracts

Discrepancies in urine dipsticks

Only will recognize negatively charged proteins (like albumin) If proteinuria is d/t immnoglobulins (Bence-Jones proteins), they are positively charged and won't be detected

Treatment of RA, drug classes

Options: 1. NSAIDs 2. non-biologic DMARDs: MTX, plaquenil, sulfasalazine 3. Immunosuppressants: Azathioprine, steroids, cyclophosphamide, cyclosporine, cellcept, tacro 4. Biologics: TNF inhibitors, IL-1 and IL-6 antagonists 5. Misc: colchicine, dapsone, IVIG, plasmapheresis

HUS

most common cause of AKI in a previously healthy child - 90% have preceding E coli 0157:H7 (can also have S pneumo, HIV, drug exposure, or systemic disease) - very rare in African Americans - usually in summer and fall Presentation: - diarrhea and abdominal pain, abrupt onset. - 50% will require dialysis - usually renal failure lasts 2 weeks - neuro involvement is common (sleepiness, irritability, seizures, coma) Treatment: supportive care mostly. NO antimotility agents or ABX

Management of esophageal candidiasis

Oral fluconazole, rather than nystatin swish/swallow

Treatment of prostate cancer

Organ-confined dz: radical prostatectomy Extension beyond prostate, PSA>20, high Gleason score (8-10): ADT + radiation Brachytherapy - option for gleason <8, PSA<20

early-onset sepsis in newborn

Organisms: GBS, E coli, Listeria Tx: Amp and Gent - ampicillin will cover listeria

Stool analysis of viral gastroenteritis

Osmotic diarrhea: - positive stool-reducing substances - pH <6 In contrast, bacterial diarrhea: invasion of the mucosal surface leads to inflammation, leading to bloody, fecal leukocytosis

Mantle Cell lymphoma

Overexpression of cyclin D1 t(11;14) translocation Involves multiple extranodal sites (bowel, bone marrow) Typically presents late-stage, is indolent and aggressive, with shorter median survival than other lymphomas DLBCL can involve the bowel, not doesn't overexpress cyclin D1 Follicular lymphoma does not usually involve the bowel

Definition of overweight

Overweight: BMI 85-95th % Obese: BMI >95th%

Methemoglobinemia

Oxidation of Heme from ferrous (Fe2+) to ferric (Fe3+) --> hemoglobin is altered, doesn't bind oxygen as well Causes: hereditary OR acquired (industrial chemicals, nitrates, Tylenol, Dapsone, sulfa, anesthetics) - Makes blood darker, patients look cyanotic despite normal PaO2 - Pulse ox isn't accurate --> have low O2 sat on coox - Symptoms: HA, dizziness, dyspnea, elevated RR, HR Treat severe cases with methylene blue

Treatment of syphilis in pregnancy

PCN! every time, despite allergy. if allergic, desensitize. no other agent effective in PREGNANCY

Pertussis diagnosis

PCR (culture gold standard but not really done, IgG can help, no role for IgM) CXR: hyperinflation, infiltrate

Metabolic disorders presenting as chronic encephalopathy

PKU and homocysteinuria Get slowly progressive symptoms from build up of toxic metabolites

Indications for long-term oxygen therapy

PO2 <55 O2 sat <88% O2 in chronic respiratory failure, including COPD, improves survival.

Gastrin level measuring

PPIs can interfere with this. They elevate the pH and cause gastrin levels to increase. - if suspecting gastrinoma, should get gastrin level prior to starting PPI (or stop the PPI for 1 week) - could alternately diagnose with secretin stimulation test (look for rise in gastrin level after secretin stimulation)

MENI

PPP: - pancreas - pituitary - parathyroid Autosomal dominant Usually not symptomatic until adulthood

Acute management of splenic sequestration

PRBCs (before ABX, etc.) point is to rapidly restore intravascular volume and O2 carrying capacity - saline bolus wouldn't address this aspect

Type II RTA

PROXIMAL - decreased bicarb resorption in the proximal tubule Associated with: - FANCONI syndrome - myeloma - heavy metal poisoning

PT/PTT result interpretation

PT high, PTT normal: usually 2/2 warfarin. could be vitamin K deficiency (malnourished, post-op) PT normal, PTT high: problem with factor VIII, IX, XI, or XII. Usually 2/2 heparin contamination. - get heparin-neutralization study first, if doesn't correct do mixing study to look for factor deficiency vs factor inhibitor PT and PTT high: defect in common pathway or multiple factor deficiencies - do mixing study. if doesn't correct, likely an inhibitor (think antiphospholipid or factor VIII inhibitor) - in factor VIII deficiency, mixing study will correct but then go PROLONGED again - b/c the inhibitor is slow to bind.

Coag studies in antiphospholipid

PTT is prolonged - does NOT correct with mixing study - DOES correct with addition of excess phospholipid

Side effects of PTU and methimazole

PTU - hepatotoxicity (use methimazole first) Both: - skin rashes - granulocytopenia (worry about agranulocytosis if develops mouth ulcers)

Plantar fasciitis

Pain over the plantar fascia - increased in runners, ballet dancers - increased ages 40-60 - r/o underlying spondyloarthropathy Tx: NSAIDs, rest, avoid heel impact, heal insert, arch support

Morton Plantar Neuroma

Painful, burning paresthesias and tenderness in the interdigital webbing 2/2 repeated nerve trauma - usually between 3rd and 4th toes

Autoimmune pancreatitis features

Painless jaundice with diffusely enlarged pancreas and narrowed duct. Will have no mass on CT, and normal CA 19-9. - Elevated IgG4 is highly suggestive (though can also occur in pancreatic ca) - Treatment: trial of steroids, 3-4 mos. Avoid Bx as increased risk of pancreatitis and duct injury - If no improvement with steroids, then consider f/u imaging for alternative diagnosis. - Can tx with Azathioprine if no steroid response

Reflex milestones

Palmar grasp - lost by 2-3 mos Moro - lost by 3-4 mos Parachute - present by 6-9 mos

Treatment of seizures by type

Partial and secondary generalized: carbamazepine, oxcarbazepine, or topamax Absence: Ethosuximide, lamictal, valproic acid Idiopathic generalized tonic-clonic: valproic acid, topamax, Keppra. CARBAMAZEPINE IS CONTRAINDICATED Complex partial seizures: carbamazepine, phenytoin, oxcarbazepine >1 type of seizure: valproic acid

Maternal infections in pregnancy

Parvovirus B19 - mid-pregnancy, increased risk of hydrops and death Varicella - first trimester, increased risk of limb defects, chorioretinitis, microcephaly Rubella - first trimester 50% transmission, can have deafness, cataracts, heart defects CMV - low birth weight, microcephaly, periventricular calcifications!, hearing loss Toxoplasmosis - hydrocephalus, blindness Syphilis - esp if after 5th month of gestation, have abnormal teeth and bones, intellectual disability, and proteinuria

Impingement syndrome exam

Passive abduction to 90 degrees causes pain in deltoid region In contrast, a rotator cuff tear OR subacromial bursitis would have more pain with ACTIVE abduction than with passive abduction

Most common organism in animal bites

Pasteurella multocida

Diagnosis of allergic contact dermatitis

Patch testing. (Prick and RAST testing more appropriate for immediate hypersensitivity reactions) A type IV (delayed) hypersensitivity reaction

Pustular Psoriasis

Patients with hx psoriasis, treated with systemic steroids, can get acute pustular erythroderma skin flare after the oral steroids are stopped Erythroderma: erythema over >90% body surface area

Indications for thrombolytics in PE

Persistent hypotension and hemodynamic instability. If patient stabilizes with fluids, etc., not needed (even if enlarged RV, etc. on imaging)

Phases of kernicterus

Phase 1 (1-2 days): poor suckling, stupor, hypotonia, seizures Phase 2 (middle of 1st week): hypertonia of extensor muscles, opisthotonus, fever Phase 3 (after phase 2): hypertonia Chronic: in first year of life, get hypotonia, delayed motor skills

Treatment of hyperbilirubinemia

Phototherapy. Criteria for starting: Low risk infants: 12 @ 24 hours, 15 @ 48 hours, 18@ 72 hours Medium-risk infants: 10@24 hours, 13@48 hours, 15@72 hours High-risk infants: 8@24 hours, 11@48 hours, 13.5@72 hours - can stop when TB down to 12-14 Indications to start exchange transfusion: Low risk: 19@24, 22@48, 24@72 Medium risk: 16.5@24, 19@48, 21@72 High risk: 15@24, 17@48, 18.5@72 Can sometimes use IVIG to prevent need for exchange transfusion

Developing a QI project

Plan - establish QI objectives, define staff responsible for the change, what change will be made, and the timeline Do - implement the changes, document issues Study - review the process, outcomes Act - decide whether to adopt, adapt, or abandon the changes

Psoriasis features

Plaque with red papules and silvery scales Auspitz sign: when plaque is removed, there are pinpoint areas of bleeding Treat with topical or systemic therapies topical: mid to high potency steroids, vitamin D3 analogs (calcipotriene), calcineurin inhibitors Systemic: acitretin (retinoid), MTX, cyclosporine

Primary hemostasis

Platelet plug formation + vascular spasm + capillary endothelial adhesion. Lasts 12-24 hours only. Platelet plug formation = platelet attachment --> platelet activation --> platelet aggregation

Mgmt of coarctation after birth

prostaglandins

Platypnea-orthodeoxia features

Positional symptoms of cyanosis and dyspnea - occur with sitting, resolve with laying down In the presence of a PFO, get R-->L shunting in the upright position 2/2 deformation of the atrial septum Indication for PFO closure

Granulomatosis with polyangiitis (Wegener's)

Positive p-ANCA (MPO-ANCA) and NORMAL complement Will have pulmonary hemorrhage and nephritic syndrome In contrast, Goodpasture's will have + anti-GBM antibody and linear immunofluorescence Churg-Strauss will have asthma, not hemorrhage, and eosinophilia

Hungry Bone Syndrome

Post-parathyroidectomy, unmineralized bone made when Ca was high begins to mineralize when PTH level becomes normal, dropping the Ca and phos quickly.

Lymphoma post-transplant

Post-solid organ transplant, increased risk of lymphoma (5% risk) - risk highest in the first year post-transplant - 90% of lymphomas are EBV-positive Treat by dropping immune suppressant doses, allowing the body to attack the EBV. If unsuccessful, then do chemo.

Baker Cyst

Posterior herniation of the synovial cavity of the knee causing a fluid-filled sac midline behind the knee or over the upper calf - usually associated with chronic knee issues (RA or meniscal tears) - after excluding DVT, no further imaging needed - Tx: rest, NSAIDs, if very large can aspirate or injection steroids

Syndromes of growth abnormalities

Prader willi (paternal) Angelman (maternal) Sotos syndrome Beckwith-Wiedemann syndrome Proteus syndrome

Treatment of tuberculous pericarditis

Prednisone (in addition to 4 drug TB tx) for the first 11 weeks of therapy Therapy increases survival and decreases need for pericardiectomy

Immunosuppressant choices for RA

Prednisone (low dose, 10 mg daily or less) can decrease rate of erosions Azathioprine Cyclosporine A - synergistic effects with MTX Cyclophosphamide - only for RA-associated vasculitis

Craniosynostosis

Premature closure of a suture, get trapezoidal head shape - should have N/S eval In contrast, positional head deformities are usually parallelogram in shape (positional plagiocephaly) - would manage this with changes in sleeping position, more tummy time.

Male CAH presentation

Premature sexual development - normal at birth - sexual precocity by 6 mos - Will get genital enlargement, pubic hair, well developed muscles, advanced bone age - tall in childhood but with early growth plate closure, so ultimately shorter than normal

Adult Still Disease

Presentation: - evanescent (disappearing) rash that is macular, salmon-pink - rash coincides with daily high, spiking fevers - most patients have mild oligoarthritis, with inflammatory joint fluid (WBC 13,000) - Also can have: sore throat, LAD, myalgias, arthralgias, and serositis Labs: - anemia of chronic disease, reactive polycythemia, + ANA, elevated ESR/CRP, elevated LFTs Treat: like treating RA. watch out for liver injury if using MTX. Anti-TNF agents work

Gaucher Disease II

Presents 1-6 mos Get FTT, strabismus, difficulty swallowing Huge liver and spleen

Gaucher Disease III

Presents 6 mos-2 years Presentation of type 3a: - prominent neuro sxs with little visceral involvement - myoclonus, dementia, ataxia - isolated, horizontal supranuclear gaze palsy - blinking - head-thrusting - HSM Presentation of type 3b: - prominent visceral sxs, little neuro - impressive HSM --> liver dysfxn with FTT, ascites, nosebeleeds, easy bruising - only neuro sx - oculomotor apraxia

MCAD (medium-chain aceyl-CoA dehydrogenase deficiency)

Presents in first 2 years of life Fasting-induced lethargy and hypoglycemia - often get seizures/coma (has been implicated in SIDS) - Liver biopsy: microvesicular steatosis diagnosis: eleated C8 and C10 esters. Treat acutely with IV glucose and bicarb. Restrict medium-chain triglycerides from the diet.

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency

Presents in infancy with arrhythmias, severe cardiomyopathy, and sudden death

Diagnosis of Wilson's disease

Presents with Parkinsons-like signs (rigidity, bradykinesia) These signs in a young person must have r/o Wilson's with ceruloplasmin level In addition to Parkinsons signs, can have ataxia, tremor, psych sxs, and liver dz. Eye exam with the kayser-fleischer ring Can also get 24H urine copper and liver bx for quantitative copper

Dermatomyositis

Presents with proximal muscle weakness (like polymyositis) PLUS skin changes: - moderately deep purple-red, papular/scaly, photosensitive rash over face, neck (shawl sign), extensor joint surfaces - heliotrope rash (periorbital edema, violaceous, over the upper eyelids) - Gottron papules (flat, reddish, scaling papules over the knuckles) are specific for dermatomyositis Biopsy of skin: perivascular inflammation with B cells and CD4 T cells (note polymyositis with CD8 t cells)

Cryptogenic Organizing Pneumonia

Presents with: cough, symptoms of CAP Consider when: doesn't respond to ABX CT: bilateral, diffuse alveolar opacities This is the idiopathic-form of BOOP.

Congenital Adrenal Hypoplasia (not hyperplasia)

Presents with: increased pigmentation, symptoms of salt-wasting, and symptoms of low adrenal steroids. - associated with cryptorchidism

XYY males

Previously believed to have behavior issues: impulsive, antisocial, more likely to commit crimes - commonly have developmental delay and behavior issues

Primary vs secondary hemostasis at bedside

Primary = platelet fxn (usually low plts or plt dysfxn) secondary = clotting cascade (e.g. hemophilia) Primary: petechiae, purpura, bruising, mucocutaneous bleeding Secondary: deep tissue bleeding (hematomas, hemarthroses)

Paroxysmal Nocturnal Hemoglobinuria features

Primary acquired stem cell disorder causing: - unprovoked venous thrombosis - hemolytic anemia - pancytopenia Diagnose with flow cytometry, looking for CD55 and CD59 + cells

Recognizing ornithine transcarbamylase deficiency (a urea cycle disorder)

Problem with nitrogen breakdown: get ammonia accumulation, seizures Presentation: - w/in 48-72 hours of birth, get presentation with poor feeding, obtunded, seizures, hyperventilation - will have very high ammonia levels - x-linked recessive (look for uncle, etc. with similar story) Will have high urine orotic acid (contrast to carbamoyl phosphate synthetase deficiency, which has low/undetectable orotic acid levels)

Idiopathic (nonallergic) rhinitis

Prominent nasal congestion without itch, sneeze, or response to antihistamines

Anti-CCP

RA more specific than RF, and is positive earlier

Causes of symmetric polyarticular hand arthritis

RA SLE Scleroderma Psoriasis Hemochromatosis will involve 2nd and 3rd MCP and PIP joints, but generally is asymmetric and has hook osteophytes

Principles in treating RA

RA-associated disability is decreased significantly by using DMARDs early for aggressive disease But, they have significant side effects, so shouldn't use them initially on patients with milder disease

Benign orthostatic proteinuria

Proteinuria that reverts to normal when the patient is supine - most common in adolescent females during growth spurt (up to 10% of teens) - check supine and upright urine for diagnosis - of no clinical consequence

Management of thrombosis (duration of anticoagulation)

Provoked with transient risk factor (OCPs, surgery, HIT) = 3 mos Unprovoked = 6 mos Recurrent or one life-threatening clot = consider indefinite Clot with active malignancy = Lovenox is better Clot during pregnancy = Lovenox is treatment of choice

Type 2 RTA

Proximal Proximal tubule doesn't resorb bicarb Presents as Fanconi syndrome: glucosuria, amino aciduria, wasting of mag/phos Cause: - Multiple Myeloma - Carbonic anhydrase inhibitors - Less common (amphotericin, heavy metals, amyloid) Treatment: bicarb, potassium replacement, vitamin D

Distal tubule functions

Proximal portion: - Na/Cl cotransporter - Na/K countertransporter Distal portion: - Principal cells have N/K countertransporter - Intercalated cells secrete H+ into the kidney (major regulator of acid-base status) - Water reabosrbed (controlled by ADH)

RTA principles

Proximal: type 2 (normal K) Distal: types 1 (low K) & 4 (high K) normal anion gap ALL are hyperchloremic

Organism in septic joint of IV drug users

Pseudomonas

Niemann-Pick Type A

RARE Ashkenazi jews, mainly Presents 1-6 mos Get vomiting, diarrhea, FTT, prominent liver/spleen Neuro issues: hypotonia, loss of motor skills 50% will have cherry red spot later in course

Medullary sponge kidney

Rare congenital, cystic disorder Ectasia of the cortical ducts in the medulla, makes the kidney appear sponge-like Xrays with calcifications - get frequent UTIs and renal stones Pyelogram: linear striations from dilated collecting ducts and enlarged calices

Plasma cell

Rarely found in the peripheral blood. If found, think of any plasma cell malignancy (myeloma, MGUS, waldenstrom, or plasma cell leukemia)

Workup of proteinuria

Rarely need 24H urine If recurrent proteinuria on UA, should get first morning urine sample with protein-creatinine ratio

Tumor lysis syndrome management drugs

Rasburicase: - oxidizes uric acid to a more soluble form, so decreases pre-treatment uric acid levels - should use as prophylaxis for high risk patients, or treatment Allopurinol: - prevents formation of uric acid, but doesn't lower pretreatment levels

How to get Cyclospora diarrhea infection

Raspberries from central america

Car seat recommendations

Rear facing until age 2 Then forward sitting for as long as possible Then a booster seat until grow out of it (4'9'' and ages 8-12) Back seat until age 13

Management of adrenal incidentaloma

Reasons of surgical removal (d/t increased risk of malignancy): - 6 cm or greater - high CT attentuation

Urine casts by etiology

Red cell casts: specific for glomerulonephritis White cell casts: pyelonephritis Granular casts: nonspecific, can indicate ATN Waxy casts: advanced renal disease Fatty cast: can be seen in nephrotic syndrome Hyaline cast: in concentrated urine, not c/w underlying renal dz

Management of newly diagnosed HIV

Recommend starting antiretrovirals if: - hx opportunistic infection or malignancy - presence of symptoms - CD4 count <500 (viral load is not a factor) - HIV-associated nephropathy - Acute co-infection with Hep B - Pregnancy (- active Hep C infection, those at risk for heart disease) Treat with Tenofovir/emtricitabine/efavirenz

Familial Mediterranean fever features

Recurrent 12-72 hour episodes of fever, serositis (abdominal or pleural), synovitis (monoarticular, usually in the legs), and erysipeloid rash - Autosomal recessive - Labs c/w acute inflammation

Congenital hemophilia manifestations

Recurrent hemarthroses --> chronic DJD Can get CNS hemorrhage Treat with recombinant factor VIII and IX

Definition of RTA

Renal Tubular Acidosis: - hyperchloremic, non-gap, metabolic acidosis Proximal: type 2 Distal: types 1 and 4

Management of uric acid stones

Risk factors: inconsistent fluid intake, high urine UA, low urine volume - Treat with potassium citrate to alkalinize the urine - if not enough, add Allopurinol to decrease UA production and urine excretion

Cephalohematoma

blood beneath the periosteum, d/t blod vessel rupture does NOT cross suture lines (b/c below the periosteum)

Complications of ADPKD

Renal: back/flank pain, hematuria, proteinuria, kidney stones, hypertension, UTIs Extra-renal: liver cysts, hernias, MVP, diverticulosis, berry aneurysms

mechanism of Aliskiren

Renin inhibitor: blocks renin production

Most common cause of secondary hypertension

Renovascular hypertension (RAS) which causes secondary hyperaldosteronism

Gout presentation/features

Results from hyperuricemia, which is due either to increased production (hemolytic anemia, idiopathic) or to decreased excretion (CKD, drugs, alcohol) - Get acute onset of joint swelling, often at night - 50% have first episode in great toe (podagra) - Elevated serum UA increases risk but isn't diagnostic - Diagnosis with joint tap: INTRACELLULAR, needle-like, NEGATIVELY birefringent crystals - appear YELLOW

Avascular necrosis

Risk factors: trauma, steroids, sickle cell, EtOH use, RA, lupus - will cause true hip joint pain (pain in groin, radiating to inner thigh) - should diagnose with b/l MRI (b/c often both sides are involved)

anthracyclines (doxorubicin)

cardiomyopathy (dose-dependent)

Felty syndrome

Rheumatoid arthritis + splenomegaly + leukopenia

Most common organism in septic joint of adults

S. aureus - especially true in RA if many medical comorbidities, more likely to have: gram negatives, GAS, pneumococcus If indolent/chronic with non-inflammatory joint fluid, more likely to be mycobacterial, fungal, or noninfectious

ECG findings for PE

S1Q3T3 - S wave in lead I - Q wave in lead III - TWI in lead III

Treatment of advanced follicular lymphoma

Rituximab with combo chemo (cyclophosphamide, vincristine, doxorubicin, prednisone), followed by 2 years of rituximab maintenance Never start with auto xplant, use this only for relapsed disease

Rolling and sitting milestones

Rolling: front to back - 4-5 mos back to front - 5-6 mos Sitting: with support - 6 mos without support - 7 mos

Organism in septic joint of prosthetic joints

S aureus, CONS

Wiskott-Aldrich Syndrome

SEVERE thrombocytopenia with small platelets (in the newborn) - associated with eczema and immunodeficiency (these occur later in childhood)

Treatment of Shigella

SHOULD get ABX Rocephin, Cipro, Ampicillin or Bactrim depending on susceptibilities

HLA-DR2

SLE

Most common cause of chorea in the US

SLE

Anti-Sm

SLE - specific

anti-dsDNA

SLE - specific - indicator of active disease - higher risk for significant renal disease

HLA-DR3

SLE Sjogren Polymyositis

Diagnosis of multiple myeloma

SPEP and UPEP lab abnormalities: AKI, elevated urine protein, hypercalcemia, anemia

Treatment of panic disorder

SSRIs are first line (second line imipramine)

Acute coccidiodomycosis

SW US Acute infection = "valley fever" with subacute respiratory illness, fever, fatigue, joint pain, erythema nodosum. Labs will have elevated ESR

SLE joint manifestations

SYMMETRIC, nonerosive, polyarthritis Small joints (hands/wrists) or knees Inflammatory joint fluid If symmetric WITH erosions on xray, think RA

Most common organism in septic joint of sickle cell

Salmonella - also pneumococcus

Treating infectious diarrhea

Salmonella = don't treat (will prolong viral shedding) unless immune compromised, old, very young Shigella = treat

Cushing syndrome diagnosis

Screening: - afternoon cortisol (with diurnal pattern should be low, but won't be) - 24H urine cortisol If screening results are unclear, then do a dex suppression test To determine central vs peripheral, do 2-step dex suppression

Renal osteodystrophy

Secondary hyperparathyroidism labs: - high phos - low 1,25 vit D - high PTH - calcium is normal to low/normal Treat with phos binders, vitamin D and calcimimetics (cinacalcet) which increase parathyroid receptor sensitivity to calcium and decrease PTH

Cholesterol atheroemboli as cause of AKI

See stepwise progression of symptoms: renal failure --> abdominal pain --> livedo reticularis --> blue toes Can see Hollenhorst plaques: cholesterol emboli in the retinal arterioles labs: eosinophilia, maybe eosinophiluria, low complement

Bartter Syndrome

See: - hypokalemia - metabolic alkalosis - NO HTN (like in Liddle) Autosomal recessive, four types - abnormal solute transport in the thick ascending segment - labs look like a loop diuretic Bartter type 4 - associated with DEAFNESS, presents in early childhood with salt wasting and hypercalciuria (stones)

Simple vs complex febrile seizures

Simple: <15 minutes, nonfocal, does not recur Complex: >15 minutes, focal findings, or recurs w/in 24hours 1-2% risk of epilepsy with simple febrile seizures, but 50% risk with complex

Anti-Ro antibody

Sjogren

SSA antibody

Sjogren

Ehlers-Danlos features

Skin hyperelasticity and joint hypermobility Classical types (I & II) = most severe, easily scarred skin & hypermobile joints Hypermobility type (III) = primary joint manifestations Vascular type (IV) = predominantly skin manifestations, higher risk for rupture of large vessels

Post-polypectomy surveillance

Sessile polyp removed piecemeal = 2-6 mos Family hx hereditary colon ca or IBD = 1 year High-risk polyp (>3 adenomas, >1cm villous adenoma, high-grade dysplasia) = 3 years 1 or 2 small (<1 cm) tubular adenomas = 5-10 years

Evaluation of thunderclap headaches

Severe and explosive, maximal intensity w/in 60 seconds of onset. Worry about SAH. Usually an underlying vascular etiology Recurrent thunderclap HAs can be reversible cerebral vasoconstriction syndrome. Neuroimaging and CSF are normal, without evidence of SAH. Should get CT or MR angiography. Segmental cerebral artery vasoconstriction is often found - more common during/immediately after pregnancy.

Malignant hypertension definition

Severe hypertension with papilledema, retinal hemorrhages, or exudates

Osteoid osteoma

Severe nighttime leg pain - responds to NSAIDs but NOT to tylenol - benign condition - usually in proximal femur Xray: round or oval lesion, <2 cm,

Characteristic pain in bursitis

Severe pain with ACTIVE movement of the join. Generally passive movement is painless

Complex regional pain syndrome (previously reflex sympathetic dystrophy)

Severe pain, tenderness, touch sensitivity, then get tight, cool, shiny skin. Ultimately develop flexion contractures and xray changes with severe osteopenia - treat with NSAIDs, TCAs, neurontin - can do nerve blocks as needded

Management of pulmonary stenosis

Should balloon the valve open if: Symptomatic with peak gradient >50 and less than moderate PI Asymptomatic with peak radient >60 and no worse than moderate PI - Reasons for surgery instead: small pulmonary annulus, sub or supravalvar PS, severe PI

Hydrocele

Should be repaired if lasting >1 year

Management of atrial myxomas

Should be surgically resected - increase the risk of embolism and stroke.

Blood pressure

Should check yearly starting at age 3 Hypertension: >95th% on three occasions Prehypertension: 90-95th % Stage I HTN: 95th to 5 mmHg>99th% Stage II HTN: more than 5 mmHg>99th%

Assessment of breathing in neuromuscular weakness

Should do bedside NIF, but also bedside VITAL CAPACITY. Signs of impending respiratory failure: VC < 20 mL/kg NIF < 30 cm H2O

Management of initial genital herpes infection

Should get acyclovir for the first infection b/c will prevent severe/prolonged symptoms. - should start acyclovir even before test results are available

Management of Rheumatoid Arthritis joint disease

Should get yearly xrays of joint erosions to assess for control of dz - progression can be the only symptom, and would require change in medications Should get TB and Hep C titers yearly

Colon ca surveillance in families with Lynch syndrome

Should have c-scope at age 20-25 or 10 years prior to earliest colorectal ca diagnosis in the family

Management of epistaxis

Should hold pressure for at least 15 minutes Cauterization and packing only indicated if persists >15-30 minutes despite pressure

Screening for sequelae of ADPCKD

Should not get routine head imaging to look for aneurysms unless: - symptoms - family history of cerebral aneurysm - high risk occupation (pilot)

Meconium issues

Should pass w/in 12 hours If >48 hours, meconium ileus, associated with: - CF - small bowel atresia - Hirschsprung Can have imperforate anus and still have meconium, as it can go through a fistula

Iron deficiency screening

Should screen at 9-12 mos, and other times if risk factors - confirm finger stick with venous if low

C-scope after diverticulitis

Should treat for 7-10 days with ABX After resolution of acute diverticulitis, should have colonoscopy to rule out other disorders that can mimic diverticulitis (colon ca, Crohn's)

Atypical presentation of pericardial effusion

Shoulder pain

Pancreatic insufficiency that isn't CF

Shwachman-Diamond syndrome Associated with pancytopenia, skeletal anomalies, increased leukemia risk Diagnose: fatty infiltration of the pancreas on U/S

Sickle cell syndromes

Sickle cell trait: HbS/A. Half the hemoglobin in each cell is HbS and half is HbA. Asymptomatic. Can get painless hematuria. Hemoglobin SC disease: One beta gene has the sickle cell mutation, the other has a different mutation at the same location. RBCs are rigid but not sickled. They do have a shorter lifespan. Can get splenic sequestration in adults and kids b/c the spleen doesn't get autoinfarcted like in sickle cell dz.

Carpal Tunnel features

Signs/symptoms - aching/paresthesias of hand and forearm - Weakness of grip strength - Loss of sensation on palmar aspect of first three fingers - thenar atrophy Diagnose with EMG and nerve conduction study

Microscopic polyarteritis

Similar to Wegener's presentation BUT no granulomatous dz of the lungs - cANCA OR pANCA

Tics

Simple tic: only 1 muscle group affected Complex: >1 muscle group, and typically more complex motions Considered chronic if lasting >1 year Typically are suppressed during sleep, can be consciously inhibited for short periods of time, and become more prominent with stress

Determiners of blood osmolarity

Sodium Glucose Urea

Management of TCA overdose

Sodium bicarb infusion Can get refractory hypotension and lethal arrhythmias - bicarb narrows the QRS and decreases arrhythmias

lung cancer locations

Squamous: central, cavitary Small cell: central, associated with neuroendocrine secretion Large cell: peripheral

Definition of hypertension

Stage I: SBP 140-159 OR DBP 90-99 Stage II: SBP >160 OR DBP >100

Testicular cancer staging/treatment

Stages: I = testicle only II = RP nodes III = mets (often lung, brain) there is no stage IV - stage with CT A/P, tumor markers, and LDH Treatment: Seminomas --> VERY radiosensitive, even metastatic dz is curable - orchiectomy - radiation if nodes <5 cm - chemo if nodes > 5 cm or mets Non-seminomas - ALWAYS starts with orchiectomy - if stage I, sometimes monitor, sometimes surgery or chemo if high risk - if stage II, chemo or surgery - stage III --> chemoP

Flu vaccine recs

Start at 6 mos old - any child <9 years old getting flu shot for the first time should get a booster 4 weeks later - no live vaccine to age <2 or older with history of wheezing in the last 12 mos

Normal male puberty

Starts any time between 9 and 14 1. Testes growth/thinning of scrotum 2. penis lengthening 3. growth of pubic hair 4. Axillary hair (at mid-puberty) 5. Growth spurt at genital stages IV-V (age 13-14) Delayed puberty: no secondary sex characteristics after age 14, or >5 years from beginning to end

Indication for carotid artery stenosis intervention

Stenosis >70% or symptomatic

MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes)

Stroke of the young - CVA sxs, sometimes with migraine or seizure Other features: - myopathy - ataxia - cardiomyopathy - deafness - DM - ataxia (manifests well before the first stroke)

Dermatitis Herpetiformis

Strongly associated with celiac disease - if patient develops it, should be on gluten free diet - Autoimmune bullous dz - itchy papulovesicles on scalp, elbows, knees, back, and buttocks - On biopsy, see granular IgA in the dermal papillary tips - Treat the skin rash with DAPSONE, but should also go on gluten free diet.

Intracranial bleeding after delivery

Subarachnoid: 2/2 birth trauma or prolonged hypoxia. if extensive can get seizures or abnormal neuro findings Epidural: venous or arterial bleed, between bone and periosteum. Rare, associated with traumatic delivery. Usually needs surgery, guarded prognosis Subdural: venous bleed, may be asymptomatic initially, can present later with seizures, developmental delay

Management of PDA

Suspect with: continuous murmur, wide pulse pressure, bounding peripheral pulses If term with symptomatic PDA, treat medically (diuretics) until big enough for surgical closure In preemies, can do indomethicin. Less effective after days 3-4 of life. Side effects: oliguria, dilutional hyponatremia, intestinal perforation do NOT use indomethicin if: NEC, Cr >1.6, UOP < 1 mL/kg/hr, Plt <50K

Management of pill esophagitis

Supportive care - EGD or upper GI will not add anything

Brain tumor treatment

Surgery - often radiation (not in age <3) - sometimes chemo

Varicocele that doesn't empty with recumbency

Suspect RCC - 11% with RCC have scrotal varicoceles 2/2 gonadal vein obstruction

Gynecomastia with nipple hyperpigmentation

Suspect exogenous estrogen

Primary hyperaldosteronism as a cause of hypertension

Suspect if hypokalemia of unknown etiology Screen with plasma aldosterone and plasma renin, and the ratio of the two In primary hyperaldosteronism (disease of the adrenal), will have elevated aldosterone and suppressed renin (ratio >20) Confirm the diagnosis with salt/fluid load and remeasurement aldosterone (should suppress it but won't) Causes of primary hyperaldosteronism: - adrenal adenoma (Conn syndrome, 70%) - idiopathic bilateral adrenal hyperplasia (25%) - rarely adrenal ca

Dianosis of TSH-secreting pituitary tumor

Suspect if sxs hyperthyroidism but TSH is NOT undetectable (should be). Get pituitary MRI

Diagnosis of Rhuematoid Arthritis

Suspect with b/l synovitis of small joints and associated morning stiffness - RF can be negative - get anti-CCP antibody - present on 40-60% of patients, and 95% specific for RA

Diagnosis of anastomotic leak after bariatric surgery

Suspect with sinus tachycardia (120 or higher) in the absence of a GI bleed Diagnose with upper GI with oral contrast (or CT with oral contrast)

Diagnosis of secondary headache

Suspect with unstable or progressive temporal headaches, and with new neuro sxs (blurry vision that didn't used to occur) Should get brain MRI to r/o underlying etiology

Ganglion Cyst

Swelling in the wrist - cyst attached to the tendon sheath or joint capsule - can be asymptomatic or aching - can have temporary resolution by firm pressure or aspiration

Polyarteritis nodosa

Sxs: fever, weight loss, abdominal pain, testicular pain, palpable purpura. Get livedo reticularis Mesenteric angio shows aneurysms of medium caliber and small muscular arteries (also renal, GI, heart). Labs: anemia, leukocytosis, elevated ESR 50% of patients with PAN also have hep B. If both, treat with 2 week course of steroids + antiviral therapy (entecavir) If no hep B, do steroids + Cyclophosphamide

Myofascial pain syndrome

Sxs: myalgias, trigger points Different than fibromyalgia: pain is localized trigger points produce pain in a nearby muscle that is distal to the trigger Tx: lidocaine into the trigger points

Epididymitis

Sxs: scrotal pain and swelling, dysuria, NORMAL cremasteric reflex, pain relief with elevation of the testes Organisms in sexually active males: Chlamydia, gonorrhea, E coli, viruses (in that order) Organisms in prepubertal boys: Mycoplasma, viruses

Complex partial seizures

Symptoms vary - will have alteration in consciousness - will have automatisms (repetitive, purposeless motor activities - lip smacking, swallowing, chewing - WILL be post-ictal (unlike simple partial) EEG with spikes or sharp waves in one or both temporal lobes Most common underlying structural abnormality is mesial temporal sclerosis

Small intestinal bacterial overgrowth features

Symptoms: diarrhea, bloating, weight loss Macrocytic anemia 2/2 B12 deficiency (but elevated folate) Patients with systemic sclerosis are at increased risk 2/2 intestinal dysmotility Other risk factors: altered gastric acid (e.g. gastrectomy), structural abnormalities, intestinal dysmotility Diagnose with hydrogen breath testing Note: lactose intolerance will NOT cause weight loss Note: microscopic colitis should NOT cause malabsoprtion as it is limited to just the colon (unless associated with celiac dz)

Primary adrenal insufficiency

Symptoms: fatigue, nausea, weight loss, salt craving Labs: hyponatremia, hyperkalemia, low cortisol, high ACTH Lack of mineralocorticoids = low Na and high K Lack of adrenal androgens = low DHEA-S Diagnosis: If random cortisol is <3, this is low enough that an ACTH-stim isn't needed.

Smallpox management

Symptoms: fever, vomiting, HA, back ache. Rash: begins on buccal mucosa, then to hands/face, then to trunk, extremities. All lesions at the same stage of maturation. Contagious until all scabs/crusts are shed Prophylaxis for contacts = smallpox vaccine if given w/in 3 days of exposure will prevent or lessen severity.

Acute angle-closure glaucoma features

Symptoms: halos around light, severe unilateral eye pain, HA, N/V Exam: conjunctival erythema, sluggish pupil Treat: Topical beta blockers, pilocarine, carbonic anhydrase inhibitors

Definition of chylothorax

TG>110

side effect of Mitomycin C

TTP

Medication associated with post-transplant lymphoproliferative disease

Tacrolimus

Hormonal breast cancer drugs

Tamoxifen: - for ER or PR + tumors - for PRE or POSTmenopausal women (activated by CYP2D6, which will be inhibited by SSRIs - use Effexor if the patient needs an antidepressant) - increases risk of blood clots and endometrial cancer - benefit for 5 years, after that only causes side effects Anastrozole, letrozole, exemastane: - aromatase inhibitors, suppress estrogen levels - only POSTmenopausal women - can use after tamoxifen, or instead of tamoxifen if there is a contraindication - side effects: arthralgia, myalgia, osteoporosis

11-12 year vaccines

Tdap HPV (day 0, 2 mos after first dose, 6 mos after first dose)

Teratogenic drugs

Thalidomide - limb defects Carbamazepine - spina bifida MTX - craniosynostosis, craniofacial anomalies, limb defects ACEi - renal dysgenesis, oligohydramnios, skull ossification defects Diethylstilbestrol - vaginal adenocarcinoma in the offspring fetus later in life Lithium - Ebstein anomaly Phenytoin - fetal hydantoin syndrome (growth deficiency, developmental delay, craniofacial anomalies, hypoplastic fingers and nails) Retinoic Acid - DiGeorge-like Streptomycin - hearing loss Tetracycline - bone and tooth staining Valproic Acid - spina fibida Warfarin - fetal warfarin syndrome (nasal hypoplasia, stippled epiphyses)

Representativeness error

The clinician applies pattern recognition in making a diagnosis, and thus fails to consider other possibilities

When urine Cl >10, think...

The following causes of alkalosis: - bulemia - surreptious diuretic use - Cushing syndrome - primary hyperaldosterone

Nephronophthisis

Three types: Juvenile (type 1) infantile (type 2) adolescent (type 3) Juvenile: - polyuria, polydipsia, anemia, FTT - salt-losing nephropathy but not nephrotic or nephritic - ESRD by age 13 Renal U/S: no good differentiation between cortical and medullary areas, cysts and the corticomedullary border Extrarenal manifestations: inability to perform horizontal eye movements, retinitis pigmentosa, cerebellar aplasia

Hodgkin lymphoma

Three types: childhood (younger than 14), adolescent (15-34), older adult (55-74). Boys usually affected under age 10, in adolescence equal genders. See Reed-Sternberg cell. Diagnose with excisional node biopsy Classic presentation: asymptomatic cervical or supraclavicular lymphadenopathy. 2/3 will have mediastinal lymph node involvement. Can get relapsing fevers (Pel-Ebstein fevers) Reported to cause itching and alcohol-induced pain Staging: I (one node or one organ), II (multiple sites but all on one side of the diaphragm), III (both sides of the diaphragm), IV (disseminated) Treatment: chemo (and radiation if high risk)

FSGS features

The most common cause of idiopathic nephrotic syndrome, esp blacks Can be primary or secondary (usually more mild) Presents with nephrotic-range proteinuria, hypoalbuminemia, severe edema, hyperlipidemia Diagnose with kidney bx

Infantile Spasms

Under 1 year of age Classic motion: sudden, simultaneous flexion of their head and trunk, with flexion and adduction of their extremities - usually occur in clusters with diminishing severity - EEG very abnormal: hypsarrhythmia - high-voltage, irregular, slow waves that occur out of sync and all over the head Assoicated with bad things: cerebral dysgenesis, genetic and metabolic issues (PKU, tuberous sclerosis) The spasms resolve over time without therapy but most children will have underlying other issues Can be treated with ACTH, if unresponsive can try prednisone

Beta thalassemia

There are two beta genes. Three types. Occurs in Mediterranean, Middle Eastern, and Asian people 1. Beta-thal minor (heterozygote): asymptomatic. mild or no anemia, MICROCYTIC. On electrophoresis have increased HbA2 (a2d2) and HbF (a2g2) 2. Beta-thal major (homozygote): aka Cooley anemia. No beta production, alpha forms tetramers and precipitates - causes red cells to die in the marrow or get pulled out by the spleen. Have severe anemia in the first year of life, transfusion dependent. 3. Beta-thal intermedia (homozygote): Gene mutations result in less severe than beta-thal major, or also get alpha-thal that prevents the alpha tetramers. Clinical presentation varies.

No-fault error

The presentation is misleading and the clinician has little opportunity to pick up clues of an underlying problem

OA of hands

Usually affects PIP and DIP joints - Swelling of hand joints is asymmetric, hard, and bony. - rare to affect MCP joints PIP: Bouchard nodes DIP: Heberden nodes Diagnosis: Pain + 3 of the following: - bony enlargement 2 or more DIP/PIP joints - fewer than 3 MCP joint swellings - deformity of 1/10 DIP/PIP joints

Adhesive capsulitis

Usually age 40-60 with other underlying shoulder issue sxs: pain, stiffness, decreased ROM Exam: decreased ROM (<50% normal) both passive AND active. Xray will be normal Tx: PT

Niemann-Pick Disease B

The same molecular issue as type A, but more residual enzyme activity so less severe - later onset, longer survival, little to no CNS issues Clinical: - isolated hepatosplenomegaly - bone marrow with foamy storage histiocytes

Hepatoblastoma

Usually age <3 - increased risk for premature infants and Beckwith-Wiedemann - AFP usually elevated - resection + chemo

Alpha thalassemia

There are 4 alpha genes, so four types of alpha-thal 1. Alpha-thal trait: (aa/a-) 1 gene affected, asymptomatic, labs normal 2. Alpha-thal minor: 2 genes affected (a-/a-) or (aa/--), asympotmatic, LOW MCV, mild or no anemia 3. Hb H: (a-/--). The unpaired betas form beta tetramers that are insoluble and accumulate. Can have hemolytic anemia 4. Hb Barts: (--/--) death in utero. Get gamma tetramers, d/t their high O2 affinity don't deliver O2 to the tissues, get hydrops.

CLL features

Usually asymptomatic Risk stratified based on: - presence of LAD, HSM, anemia, low plts - beta2-microglobulin level - heavy gene mutational status - cytogenetics No need for bone marrow bx - all relevant info comes from peripheral blood Stage 0 = increased circulating lymphocytes Stage 1 = lymphadenopathy Stage 2 = splenomegaly Stage 3 = anemia Stage 4 = thrombocytopenia

Biologic choices for RA

These are most helpful when combined with MTX Start with TNF-inhibitors: Infliximab, adalimumab, Etanercept If TNF + MTX not sufficient, move onto interleukin antagonists (IL-1 = anakinra, IL-6 = tocilizumab) Can also do rituximab (can combine with MTX) For refractory dz, use Abatacept (Orencia) - a T cell inhibitor No live viruses if giving biologics, and should pre-screen for TB

Treatment of nephrogenic DI

Thiazide diuretics

Snake bites

Things that are poisonous: rattlesnakes, copperheads, water moccasins. usually have triangular head, elliptical pupils, and fangs Mgmt: - should be transferred to an ER. until then: - immobilize the injured body part, and keep at the level of the heart - remove constrictive clothing/jewelry - clean the wound - transfer in the supine position Do NOT: use a tourniquet, apply ice, I&D the wound

Giant platelets that do not agglutinate

Think Bernard-Soulier Syndrome (giant platelet syndrome) - mild TCP with giant platelets. They do not aggregate in response to ristocetin (but do in response to ADP, epi, or collagen) - d/t glycoprotein Ib abnormality on the plt membrane - presents with severe mucocutaneous bleeding in infancy - have prolonged bleeding time

Headache with Valsalva maneuver

Think Chiari I malformation, get MRI of the neck

+ p-ANCA

Think Churg-Strauss and polyarteritis nodosa Some others associated with p-ANCA that is less specific: - pauci-immune GN - microscopic polyangitis - goodpasture's/anti-GBM disease

platelets that do not bind fibrinogen or aggregate

Think Glanzmann Thrombasthenia (contrast to Bernard-Soulier) - normal plt count (BS with low ct and giant pts) - d/t glycoprotein IIb/EEEa problem - severe mucocutaneous bleeding in infancy

+ c-ANCA

Think Wegener's granulomatosis - associated with + anti-PR3 on ELISA

Diagnosis: Sudden onset of severe nephrotic syndrome in a teenager

Think minimal change disease typically will be normotensive with normal creatinine Treat with Prednisone - usually responds well and will go into remission (not so with adults, who are often steroid-dependent)

Persistent posterior fontanelle

Think of neonatal hypothyroidism Associated with umbilical hernia and prolonged jaundice

Treatment of otitis externa

Think pseudomonas, S aureus (most common) or Candida (rare) Prefer ofloxacin

Sausage-shaped digits

Think psoriasis or reactive spondyloarthropathy

HLA-B27

Think reactive arthritis, Reiter syndrome, Ankylosing spondylitis BUT, only 10-20% of people with HLA-B27 will develop a related disease

Familial Hypercholesterolemia

Usually autosomal dominant If homozygous, will get xanthomas by age 5 If heterozygous, will get xanthomas of Achilles or extensor hand tendons by second decade Serum cholesterol is usually 600-1000 - can have angina and CAD in the second decade

Delayed hemolytic transfusion reaction

Usually d/t Rh incompatibility or antigen mis-match Get anemia, mild fever, indirect bili 7 days after transfusion. Unless brisk hemolysis, no treatment needed.

Sanfilippo Syndrome (MPS III)

Usually diagnosed at age 4-5, have SEVERE CNS disease Classic triphasic pattern of symptoms: Phase I: developmental delay with recurring URIs, diarrhea, sleep issues (before age 1) Phase II: severe behavior issues with hyperactivity and aggression, precocious puberty, loss of motor skills Phase III: swallowing dysfunction progressing to vegetative state Usually death by 20s

Causes of pseudohyperkalemia

Usually due to: - hemolysis - Thrombocytosis >400K - leukocytosis >100K

Primary Raynaud's phenomenon features

Usually in young women, a few years after menarche. This form not associated with rheum dz. Suspect secondary Raynaud's (not primary) if: - male - age >40 - asymmetric findings - fingertip ulcerations

Management of acute sinusitis

Usually viral, and resolves in 7-10 days. Should treat symptomatically only Use ABX if high/continued fever or worsening Sxs.

VATER/VACTREL

V - vertebral defects A - anal atresia TE - tracheoesophageal fistula R - radial dysplasia, renal malformations Also congenital heart disease

Traveler's Diarrhea features

Three or more unformed stools/day with abdominal pain, nausea/vomiting, bloody stools, or fever Usually d/t enterotoxigenic E coli Most common in Mexico, South/Central America, Asia, Africa (overall incidence 20-60%) No need to prophylax unless pt with underlying condition (IBD, immunocompromised, chronic diseases) Prophylaxis with RIFAXIMIN

Antithrombin deficiency

Thrombotic disorder - antithrombin should inactivate thrombin. - defects can be quantitative or qualitative - get clotting at a young age, risk of clot is 1%/year - homozygous mutation is fatal in utero - living patients are heterozygotes

Prothrombin gene mutation

Thrombotic disorder - gain of function mutation - elevated levels of prothrombin - increased risk of venous clots

Protein C and S deficiency

Thrombotic disorder Usually autosomal dominant - protein C deficiency associated with increased clotting on warfarin

Factor V Leiden features

Thrombotic disorder have resistance to the effects of protein C (which should prevent clotting) Heterozygotes have 7 fold increased clotting risk Homozygotes have 20 fold increased clotting risk

Complications of exchange transfusion

Thromobocytopenia/coagulopathy Portal vein thrombosis NEC HypoK/hypoCa graft vs host reaction Infection Arrhythmia

Graves dz vs subacute thyroiditis

Thyroiditis will have TENDER gland, short duration of sxs, and no proptosis Graves will have nonpainful gland

How do you treat Giardia

Tinidazole - one time dose second line: Flagyl

Thyroid function in the elderly

Tolerate higher TSH (up to 7) in the elderly. Higher TSH is actually associated with lower mortality. Should not prescribe synthroid for elevated TSH alone in the elderly - consider the clinical context

Vibrio vulnificus-associated nec fasc

V vulnificus is more aggressive in patients with higher iron levels - so more virulent in patients with hemochromatosis Get sepsis and hemorrhagic bullae progressing to nec fasc. Organism is in raw/undercooked shellfish or contaminated sea water

CMV vs toxoplasma in a newborn

Toxoplasma: petechial rash, HSM, diffuse intracranial calcifications (triad of chorioretinitis, hydrocephalus, and intracranial calcifications is rare) CMV: petechial rash, HSM, PERIVENTRICULAR calcifications (also chorioretinitis, IUGR, jaundice, microcephaly)

Richter transformation

Transformation of CLL/SLL to diffuse large cell lymphoma Symptoms: - fever - rapid enlargement of previously stable nodal disease - rising LDH

Spinning top urethral deformity

VCUG looks like a spinning top - d/t dilation of the proximal muscular urethra against a closed/narrowed distal urethral sphincter. - associated with bladder dysfunction - in babies, often will resolve. - if VCUG without reflux, don't need ABX ppx

Niemann-Pick Disease Type C

VERY COMMON Presentation: - age 3-5 - ataxia and hepatosplenomegaly - older years: poor school performance, impaired fine motor skills - cataplexy (sudden motor loss after emotional scare) and narcolepsy are common - supranuclear vertical-gaze palsy

Adolescent psychological development

Transition from concrete thinking to abstract thinking - can be an issues with abstract thinking requirements in school, may see new struggles in academics

Biologic breast cancer drugs

Trastuzumab (Herceptin) - for Her2/neu positive tumors - monoclonal antibody - her2/neu + tumors produce a growth receptor protein, leading to faster growth - for use in advanced/metastatic cancer OR as adjuvant for high risk tumors (>2 cm or node +)

Management of membranous glomerulopathy

Treat with ACEi to control BP and decrease proteinuria Treat with statin to manage HLD 2/3 of patients will have spontaneous remission, only 1/3 progress to ESRD - more likely to progress if male, age>50, elevated Cr, or secondary changes on bx.

Treatment of pain 2/2 diabetic neuropathy

Treat with low-dose TCA (Desipramine) and topical capsaicin

Opioid-induced constipation

Treat with methylnaltrexone - treats constipation without decreasing analgesic effects.

Treatment of primary biliary cirrhosis

Treat with ursodeoxycholic acid - associated with improved transplant-free survival, decreased rates of portal hypertension Autoimmune etiology Sxs: - fatigue, itching, jaundice Labs: - elevated AP, ALT/AST - + anti-mitrochondrial antibody >1:40

Management of HIV treatment failure

Treatment failure = suboptimally controlled HIV RNA viral loads (lack of suppression or previously undetectable that are now detectable) Should undergo viral resistance testing while still continuing the current regimen

Itraconazole use

Treats histoplasmosis in AIDs patients - requires ACIDIC stomach to be absorbed. - H2 blockers or PPIs used together can affect absorption

Klippel-Feil Syndrome

Triad of symptoms: - short neck - limited neck motion - low occipital hairline d/t fusion or partial fusion of the cervical and upper thoracic vertebrae Usually associated with other congenital issues (deafness, macrocephaly, hydrocephalus, intellectual disability)

Felty Syndrome

Triad: - rheumatoid arthritis - splenomegaly - neutropenia Usually in longstanding RA with high RF titers Treatment: MTX, cyclosporine. can do splenectomy

Botulism Symptoms

Triad: - symmetric, descending flaccid paralysis with bulbar palsies (diplopia, dysarthrtis, dysphagia) - normal body temperature - clear sensorium Diagnose with toxin detection in serum, stool Treat with antitoxin

Hydrocarbon ingestion

e.g. kerosene Can get respiratory symptoms: coughing, choking, tachypnea, cyanosis. get damage to the alveoli and pulmonary capillaries leading to pneumonitis, PTX, necrotizing PNA Systemic: CNS depression, arrhythmia, fever, hemolysis Management: supportive. Treat bronchospasm with albuterol. ABX if signs of secondary infection Avoid gastric decompression d/t risk of aspiration

Tuberous sclerosis diagnosis

Two major and one minor, or one major and two minor features Major: - facial angiofibromas - three or more hypomelanotic macules - kidney angiomyolipomas - retinal hamartomas Minor: - nonrenal hamartomas - multiple kidney cysts - dental abnormalities

Tay-Sachs Disease

Two types: Infantile - enhanced startle reflex - pronounced Moro that doesn't reduce with repeated stimuli - progressive loss of motor skills - hypotonia - cherry red spot in >90% Juvenile/Adult - Ashkenazi jews - clumsy/awkward in childhood - intention tremor in first 10 years - school problems - get proximal m weakness in adolescence

Craniosynostosis

early closing of the sutures. Sagittal is most common Head shapes (order of frequency of occurrence): Sagittal - excessive anterior/posterior growth, get long, narrow head (scaphocephaly) Coronal/sphenofrontal - unilateral flattening of the forehead, elevation of the ipsilateral orbit/eyebrow, prominent ipsilateral ear (frontal plagiocephaly) Metopic - triangle -shaped (trigonocephaly) Generally these require surgical intervention to prevent intracranial hypertension and to repair facial asymmetry

Gaucher Disease summary

Type I - most common, NO CNS disease Type II - earliest onset (infancy), neuro symptoms plus bleeding tendency Type III - neuro symptoms later in onset and more chronic than type I All forms have hepatosplenomegaly, bone lesions, and some lung disease

5q syndrome

Type of MDS with 5q deletion Has FAVORABLE prognosis, longer survival, less progression to AML Usually in women Associated with thrombocytosis usually responds to Lenalidomide

Follicular Lymphoma

Type of NHL - Most common of the indolent NHLs - Patients usually elderly, present late-stage with diffuse adenopathy. Generally otherwise asymptomatic - Get overexpression of BCL-2 d/t t(14;18) translocation Treat only if symptomatic. B/c indolent, cannot be cured. - rituximab often used as monotherapy for older patients - CD20 monoclonal antibody - Death often from cytopenias, infection - 10% risk of transformation to diffuse large cell lymphoma, which is usually fatal

Burkitt Lymphoma

Type of aggressive NHL - the most aggressive type - t(8;14) translocation leads to overexpression of C-MYC - African Burkitt is associated with endemic EBV, but Western cases are sporadic - commonly has extranodal disease (GI, GU tracts) - commonly disseminates to the CNS Treatment: - prolonged high-dose chemo - treatment or prophylaxis of the CNS with intrathecal chemo - Tumor lysis is common

Marginal zone Lymphoma

Type of indolent NHL - most commonly arises in the gastric or intestinal mucosa (called MALT lymphoma), can also be in salivary glands or bronchial mucosa - commonly d/t chronic H pylori infection - If early stage, cure with eradication of H pylori, or with radiation - Splenic MZL can be d/t chronic Hep C

CLL

Type of indolent NHL SLL = CLL with a more lymphomatous manifestation - d/t clonal proliferation of poorly functioning B cells - smear: lots of lymphocytes and smear cells - often initial leukemic presentation progresses to lymphomatous phase - most people diagnosed d/t high WBC count, otherwise asymptomatic - associated with disordered immune system, high risk of autoimmune issues (hemolytic anemia, thrombocytopenia) --> can manage with steroids - have functional immune suppression, can manage with monthly IVIG

Acute interstitial nephritis

Typically d/t hypersensitivity to a medication Classic presentation (only 10% of the time): fever, rash, eosinophilia, elevated creatinine Diagnosis: UA with whites, white casts, and no bacteria. Treatment: stop the offending medication Common meds: PPIs

Metastatic colorectal cancer

Typically goes to the lung, usually w/in 5 years of treatment Survey with yearly exam, CEA, CT, and c-scope If lung met develops, should be resected, chemo/radiation not necessarily needed

Treatment of migraines during pregnancy

Typically migraines improve during pregnancy The only safe pain medicine is Tylenol (can combine with Zofran or Reglan for nausea if needed) Naproxen is category B for trimesters 1 and 2, but not for trimester 3 (risk PDA closure) Women with migraines have increased risk of LBW infants, preterm delivery, eclampsia, and placental abruption

Erythroblastosis fetalis

hemolytic anemia of the fetus (in neonates, called hemolytic disease of the newborn) -d/t maternal antibodies, usually Rh (usually the D antigen) or ABO Can prevent high maternal antibodies by giving Rh- mother rhogam (anti-D globulin) during 3rd trimester and then 72 hours after pregnancy If untreated, hemolysis leads to anemia, the BM makes more red cells at the expense of other cells, and the baby becomes pancytopenic Baby will NOT be jaundiced at birth b/c unconjugated bili crosses the placenta and the mother conjugates and excretes it. WILL develop jaundice quickly after birth - can have erythropoiesis in the spleen and liver and get splenic rupture at delivery

Urine anion gap

UAG = Na + K - Cl Normal urine gap is NEGATIVE UAG > 10 = think RTA

Central DI

UOsm <200 with increased plasma Osm and polyuria Distinguish between central and nephrogenic with desmopressin - if kidneys working, UOsm should increase to >600 Distinguish from cerebral salt wasting: usually does not cause hypernatremia and polyuria. Hypovolemia leads to release of ADH, causing retention of water and HYPOnatremia (would have higher UOsm).

Herpes labialis and sunlight

UV light can reactivate HSV Those at risk can take prophylactic antivirals when planning to be in the sun.

How to look for a pleural effusion in kids:

Ultrasound (NOT CT!)

CML (chronic myelogenous leukemia)

Uncontrolled production of mature but dysfunctional neutrophils. Clinical: elevated WBC count with predominant granulocytes. The excess cells infiltrate organs, often get hepatosplenomegaly Diagnosis: philadelphia chromosome (t9;22) or its product (BCR-ABL) Can progress to AML or ALL if left unchecked as the cells become more abnormal. this is a "blast crisis" Treatment: - Gleevec (Imatinib) is standard of care for first line treatment as long as not in blast crisis - If progresses on Gleevec, can increase the dose, change to different med, or consider stem cell xplant - the only CURE is stem cell xplant

Hemophilia types

hemophilia A = factor VIII deficiency Hemophilia B = factor IX deficiency

CLL staging

Unique to CLL: Stage 0 = lymphocytosis (median survival 12 yrs) Stage 1 = Lymphocytosis + adenopathy (survival 9 yrs) Stage 2 = lymphocytosis + hepatosplenomegaly (7 yrs) Stage 3 = Anemia (1-2 yrs) Stage 4 = Thromocytopenia (1-2 yrs)

Hypertrophic Pulmonary Osteoarthropathy (HPOA)

Unknown mechanism - can be familial, or more often associated with lung malignancies - get periosteal bone formation, joint effusions, and clubbing - joint fluid is noninflammatory - get dull/aching pain - xrays with periosteal bone growth --> irregular cortical thickening Think of: smoker with joint effusion and also with clubbing

Papillary necrosis

Unusual complication of NSAIDs, presents with flank pain similar to renal colic Imaging should demonstrate defect in the papillae

Burr cells (echinocytes)

Uremia

Urethral prolapse

Urethral mucosa extrudes through the external meatus Most common in African American girls, ages 4-10 more likely with constipation, coughing, UTIs Usually requires surgical resection of the prolapsed portion

Test to differentiate etiology of metabolic alkalosis

Urine chloride - Low UCl (<15) = vomiting, diuretics, low cardiac output - high UCl (>15) = diuretics, genetic issue Should assess volume status: - if hypovolemic, will correct with saline - If hypervolemic, will not respond.

Management of TIA

Use ABCD score to determine risk of CVA. If 3 or greater, should be admitted Age (>60) Blood pressure (>140/90) Clinical symptoms Duration (>60 minutes) Diabetes

Treatment of cancer-associated venous thromboembolism

Use Lovenox (or heparin) over warfarin

Acute interstitial nephritis as cause of ATN

Usually 2/2 drug hypersensitivity reaction: presents as fever, eosinophilia, and rash Common drugs: antibiotics, NSAIDs, thiazides, allopurinol Common ABX: bactrim, beta lactams, rifampin, cipro Can be d/t autoimmune diseases and infection Labs: - urine sediment with white cells, white casts, mild proteinuria - Hansel stain with urinary eosinophils - FENa >1%

Granulomatosis with polyangitis (Wegeners)

Usually adults ages 50-60, rare in children - flu like illness and systemic symptoms (weight loss, myalgias, fever, anorexia) - lung disease: mild to pulmonary hemorrhage (necrotizing granulomas that form pulmonary nodules) - SINUS disease Labs: PR3 (c-ANCA) Tx: cyclophosphamide, high dose steroids

Treatment of pneumococcal meningitis

Vanc + Rocephin (or cefotax)

Behcet Disease

Vasculitis Occurs in middle eastern, japanese, asian people sxs: - aphthous stomatitis - genital ulcers - synovitis - rashes - CNS disease (recurrent aseptic meningitis) Can get pulmonary artery aneurysms tx: ulcers respond well to colchicine Severe disease: steroids, azathioprine, biologics

WAGR Syndrome

W - Wilms tumor A - Aniridia G - GU malformations R - mental Retardation

Calculation of ANC

WBC count x %PMNs+bands

Walking milestones

Walking: pulls to stand - 9 mos holding onto furniture - 11 mos without help - 13 mos walks well - 15 mos runs well - 2 years Stairs: 2 feet each step - 2 years 1 foot each step - 4 years Jumping: jumps with 2 feet - 2.5 years hops on one foot - 4 years skips - 5-6 years balances on 1 foot 2-3 sec - 3 years balances on 1 foot 6-10 sec - 4 years

Newborn exam for GA

Vernix: thick (24-38 weeks), limited to back/scalp/creases (38-39 weeks), only creases and scant (40-41 weeks) Ear: soft, folded pinna (24-31 weeks), slow retraction from folding (32-35 weeks), upper 2/3 incurving, springs back from folding (36-38 weeks), well-defined, pinna firm (39 weeks) Sole creases: none (24-31 weeks), 1-2 (32-33 weeks), 2-3 (34-35 weeks), over 2/3 (36-37 weeks), + heal creases (38-41 weeks) Fingernails: present (20-22 weeks), extending only to finger tip (32-41 weeks), beyond fingertips (42 weeks) Lanugo: entire body (22-32 weeks), absent from face (33-37 weeks), only shoulders (38-41 weeks) Scrotum: few rugae (28-35 weeks), anterior rugae (36-39 weeks), entire scrotum rugae (40-41 weeks) Labia: prominent clitoris, small labia (30-35 weeks), labia almost covers clitoris (36-39 weeks), minora and clitoris covered (40 weeks)

Proximal tubule functions

Very water permeable, reabsorbs water and Na 1:1 - Na/H counter-transporter - Na/K counter-transporter - Na/Cl/K/glucose/amino acid cotransporter - Bicarb is reabsorbed via: 1. H goes out as Na goes in 2. H combines with HCO3 making H2CO3 3. Carbonic anhydrase converts H2CO3 to H2O + CO2 4. CO2 is absorbed by the tubular cells, and converted back to HCO3 by carbonic anhydrase 5. HCO3 in the cells is reabsorbed into the interstitium

Diagnosis of DI

Water restriction test: - In healthy person, as plasma osmolality increases, ADH rises and urine is maximally concentrated (>700 osm) - In central DI, plasma osmolality goes up but ADH stays low and urine stays dilute. Giving a dose of ADH will cause urine concentration (b/c the kidneys work normally) - In nephrogenic DI, plasma osmolality goes up, ADH goes up, but urine stays dilute b/c the kidneys can't respond

Weber and Rinne hearing tests

Weber: tuning fork on the forehead. Normal is sound is in the middle. If it lateralizes: conductive loss on the same side, or sensorineural on the other side Rinne: normal is air louder than bone. If bone is louder = conduction. If sensorineural, both will be soft but air will be louder than bone.

Fulminant liver failure

hepatic encephalopathy + jaundice without preexisting liver dz. Hyperacute: encephalopathy <1 wk after jaundice Acute: encephalopathy 1-4 weeks after jaundice Subacute: encephalopathy 4-12 weeks after jaundice Etiology: meds (Tylenol), viral

Female CAH presentation

Virilization (ambiguous genitalia) - clitoral enlargement and labial fusion. More virilization in salt-wasting forms - after birth, get pubic/axillary hair, acne - older girls are tall, with well developed muscles/boy-ish bodies - no menses unless suppress androgen production

Vitamin D deficiency features

Vit D deficiency can cause secondary hyperparathyroidism Labs will show high PTH, low Ca, low phos Should measure 25 vit D level

Features to diagnose Turner's

high arched palate short metacarpal bones poor linear growth

Gigantism vs acromegaly

When GH is higih: - if epiphyses are open, get gigantism - if epiphyses are closed, get acromegaly

Anchoring error

When a clinician holds to an initial impression and fails to consider other possibilities

Availability error

When a clinician makes a diagnosis based on what is available in his/her mind, rather than what is most probable

Cancer of unknown primary site

When a met is found without primary site identification. In women with axillary LAD and nothing else, should treat for stage II breast ca - will find the primary after mastectomy 50-60% of the time.

Management of VUR

When diagnosed, should get voiding study - if voiding dysfunction, will be less likely to resolve spontaneously - will spontaneously resolve in 50% of patients, esp grades I and II VUR. - Grade V rarely resolves, and will likely need surgery - Runs in families - should screen siblings with renal U/S (no VCUG unless abnormal study)

Diagnosis of multicystic dysplasic kidney in a newborn

When dx is made, should get VCUG b/c there is a 30% incidence of VUR in the contralateral kidney - should also place on ABX ppx (amoxicillin)

Diagnosing IBD

When symptoms point to small bowel symptoms (periumbilical pain, anemia but no gross bleeding), image the small bowel first (small bowel xray series, UGI).

Complications of alcoholic ketoacidosis

When treated with glucose-containing fluids, hypoglycemia corrects rapidly. Can get severe HYPOPHOSPHATEMIA, which can induce rhabdo - would then see new AKI after IV fluid hydration

Management of UTI with indwelling Foley

Worry about enterococcus, make sure Ampicillin or Amoxicillin is used to cover for this

SLE kidney manifestations

Worst is glomerulonephritis (can cause tubule injury as well) - + anti-dsDNA associated with higher risk of GN - African Americans more likely to have aggressive kidney dz - six classes of GN in lupus If classes III or IV (focal or diffuse GN), should treat with cytotoxics and steroids

Wiskott-Aldrich Syndrome

X linked - eczema, thrombocytopenia, and recurrent infections - have HIGH IgA and IgE - have LOW IgM

Menkes Disease

X linked recessive (boys only) - impaired copper uptake gene - will have low serum copper and ceruloplasmin levels

Lesch-Nyhan Disease

X linked recessive (boys only) purine disorder Get FTT, emesis, irritability by 3-6 mos At 2-3 years, get self-mutilation (lip and finger biting) as well as renal stones and gout (lots of uric acid produced)

G6PD deficiency

X linked, >400 variants of this - there is a decreased amount of glutathione available in its reduced state. The reduced state is protective against oxidative stress - sources of oxidative stress: infection, meds (dapsone, sulfa, antimalarials), fava beans, DKA - Can get mild to massive hemolysis - can get false negative tests during the hemolytic event, should test 2-3 mos afterwards Lab tests: might have Heinz bodies (chunks of denatured hemoglobin) and bite cells. Coombs negative

Fabry disease

X-linked deficiency of alpha-galactosidase A In boys, get kidney, heart, and nervous system problems - renal fxn deteriorates, ESRD in 40s

G6PD deficiency

X-linked recessive, most common in African American males - get decreased amounts of reduced glutathione - Diagnosis: measurement of G6PD (can't do this during acute hemolytic crisis)

Perrault Syndrome

XX gonadal dysgenesis that is associated with sensorineural hearing loss Will have normal external genitalia and normal growth, but no sexual maturation at puberty. Have streak ovaries only.

Persistent Mullerian Duct Syndrome

XY patient that is completely virilized and phenotypically male BUT has persistent Mullerian ducts. - occurs b/c the Sertoli cells are dysfunctional and don't make Mullerian inhibiting substance - will have fallopian tubes and a uterus, but otherwise is normal XY.

Diagnosing a stress fx

Xray often won't be + for 2-4 weeks - should get an MRI to confirm diagnosis - important b/c sequelae could be AVN, so don't want to miss the diagnosis

Findings for diagnosis of rickets

Xray: cupping/fraying of costochondral junctions and epiphyses Leg bowing

Uric acid crystals

YELLOW - negatively birefringent

Angelman Syndrome

a 15q11-13 microdeletion from the MOTHER Think happy puppet: - jerky/ataxic movements - characteristic gait - fair hair - midface hypoplasia - large chin - seizures - inappropriate bouts of laughter - severe intellectual disability

Prader-Willi

a 15q11-13 microdeletion inherited from the FATHER - severe hypotonia at birth - obesity - short stature - small hands and feet - hypogonadism - mild intellectual disability

evaluation of isolated prolonged PT

if not worried about warfarin: - check factor VII level. mixing studies evaluate PTT, not PT

Management of clavicular fracture

a POSTERIOR clavicular fracture at the sternoclavicular joint can damage the recurrent laryngeal nerve, blood vessels, lung or trachea - should refer for prompt surgery A fracture of the mid or distal clavicle would be appropriate for sling

Germline mosaicism

a parent can have an AD mutation in gonadal tissue but not in somatic cells, such that they don't have it but will have multiple children with it.

contraindication to emergency contraception

a positive pregnancy test

Fragile X Syndrome

a trinucleotide repeat disease - an X-linked disorder but atypical: 30% of female carriers have the phenotype, and normal males can have it and transmit it to their daughters Common findings: intellectual disability, large head, long face, large ears, large hands/feet, macroorchidism, hyperextensible joints If you are a premutation carrier (55-200 repeats), can have: mild cognitive/behavioral deficits, premature ovarian failure, and neurodegenerative issue in older adulthood

Diagnosis of alpha thal trait

a-, a- or aa, -- - will be microcytic - NO anemia or hemolysis - Hgb electrophoresis MAY be normal (wouldn't be in beta thal trait)

How to diagnose splenic injury

abdominal CT (note: NOT FAST scan, at least not in children)

Acquired cholesteatoma

abnormal collection of squamous epithelium in the middle ear and mastoid - an uncommon complication of chronic middle ear dz. Get atrophy of the TM and formation of a retraction pocket. Increased risk with prior TM tubes. Suspect with: deep retraction pocket, persistently draining ear for >2 weeks despite treatment Long term will invade the local structures, so should have urgent ENT referral

Confusional migraine

abrupt onset of altered level of consciousness - will be disoriented, sometimes agitated/combative - often get a headache AFTER the event

RAST testing vs skin testing

accuracy is equivalent - have to stop antihistamines for skin testing, ok to continue for RAST - RAST is more expensive - both demonstrate "sensitization" to an allergen, but neither predict whether an allergic reaction will occur (more true with food than with environmental allergens)

Tick paralysis

acute onset of ascending flaccid paralysis - CSF is normal - if the tick is removed, typical resolves w/in 24 hours Contrast to GBS: - weakness progresses more slowly - CSF is abnormal with elevated protein

Treatment of arrhythmias in WPW

acutely: IV procainamide or cardioversion NO AVN blockers ultimately: ablation

missed question: anthracycline effect

affects the more "committed" cell lines than it does stem cell lines

Diagnosis of pancreatitis 2/2 gall stone obstruction

after seeing CBD dilation on abd U/S you would do: NOT ERCP! exacerbates symptoms, can miss small stones Do either MRCP or EUS (EUS theoretically best if the choice is available)

Miliaria features

aka "heat rash" - 2/2 blockage and rupture of eccrine sweat ducts, occurs in hot/occluded skin (esp hospitalized, febrile patients) - Can be small erythematous papules or papulovesicles, associated with itching/burning/prickling - Manage with cool air, cool bath - Can use talcum or cornstarch powder

Spur cells

aka Acanthocytes - liver disease

Neuropathic Joints

aka Charcot joints: joints that are destroyed via repeated trauma d/t loss of pain sensation and/or proprioception - findings similar to OA

Burr cells

aka Echinocytes - uremic patients

Osler-Weber-Rendu syndrome

aka Hereditary hemorrhagic telangiectasis - mucocutaneous telangiectases and AVMs - often have epistaxis or GI bleeding

eczema herpeticum

aka Kaposi varicelliform eruption HSV infection on top of eczema - need ASAP IV antivirals to prevent dissemination Note, eczema is a contraindication to getting the smallpox vaccine b/c can get eczema vaccinatum (similar to above) which can be life-threatening

Stein-Leventhal Syndrome

aka PCOS! Labs: - elevated testosterone - elevated LH:FSH ratio (3-5:1)

Smoldering Myeloma

aka asymptomatic myeloma M protein in >3 g/dL OR plasma cells >10% in the bone marrow BUT there is no end-organ damage Do not treat this, but monitor labs every 3-6 mos and get annual skeletal survey

Recognizing dengue fever

aka breakbone fever - severe muscle and joint pains - HA - retro-orbital pain - acute fever - nonspecific rash Labs: leukopenia, TCP, modest elevation in LFTs

Gonadotropin-dependent precocious puberty

aka central puberty - more common in girls than boys - for girls, often idiopathic. boys less so - worry about brain tumor (10% in girls, 25-75% in boys) Labs: - LH is detectable when it shouldn't be - get a basal LH level - confirm with LH level in response to GnRH - will have advanced bone age Treatment: - GnRH analogs to interrupt the pulsatile endogenous GnRH secretion - Leuprolide

Subacromial bursitis

aka deltoid bursitis - pain at rest AND with movement - pain over the lateral aspect of the arm, esp if waking from sleep with pain - can be associated with rotator cuff tear and cause impingement - Exam: middle arc of active abduction is painful, the extremes are not

Bernard-Soulier syndrome

aka giant platelet syndrome - decreased platelet adhesion d/t lack of glycoprotein Ib (the platelet cannot bind vWF) - will have decreased plt count d/t increased plt clearance

Prepatellar bursitis

aka housemaid's knee - pain over the patellar bursa, 2/2 kneeling on hard surfaces

Constitutional Growth Delay

aka late bloomer Initially normal height/weight will drop DURING the first 2 years of life. - will then run parallel to the curve - sometime in adolescence will have rapid growth to achieve normal adult size - bone age will be delayed - head circumference is usually spared - often family history of late bloomers

Management of constitutional delayed puberty

aka late bloomer - delayed BA, otherwise normal labs If patient/family concerned, can refer to endocrinology for possible testosterone therapy would NOT do growth hormone replacement (not GH deficient)

Recognizing unicameral bone cyst

aka simple cyst - benign lesion, common in boys - usually proximal humerus or proximal femur - xray sometimes with fallen leaf sign (piece of bone fallen to the bottom of the cyst, pathognomonic) - resolve without tx - Treatment: if large, high-risk for fx location, can do steroid injection

Lateral epicondylitis

aka tennis elbow - pain at the front of the lateral epicondyle - sxs can resolve with decreased use of the elbow, though can take up to 2 years - tx: NSAIDs, splinting

Rett syndrome

almost EXCLUSIVELY in females 2/2 MeCP2 mutation get degenerative course after several months of normal development - earliest finding is deceleration of head growth at 2-4 mos - then, get developmental stagnation followed by regression

surgery in testicular cancer

always do inguinal orchiectomy a trans-scrotal approach, or a biopsy, would SEED the area. never do these

Libman-Sacks endocarditis association

antiphospholipid antibodies

Factor XIII deficiency

associated with consanguinity NORMAL labs BAD bleeding Screen with urea solubility assay (their clots are abnormally soluble in urea)

Idiopathic hypercalciuria

associated with microscopic hematuria (even without actual stone formation) generally benign, but can increase risk of stones Manage by increasing fluid, decreasing salt intake

inheritance of familial cataracts

autosomal dominant

Sotos syndrome

autosomal dominant - large for gestational age - macrocephaly - prominent forehead - hypertelorism - large hands/feet

Nail-patella syndrome

autosomal dominant - absent or hypoplastic patellae, dystrophic nails, dysplastic elbows, iliac horns, and renal disease

branchio-oto-renal syndrome

autosomal dominant Often with ear malformations, branchial cleft cysts or fistulae, and renal anomalies

Erythropoietic Protoporphyria (EPP)

autosomal dominant second most common porphyria presentation: skin photosensitivity - usually NOT with vesicles (like the other porphyrias) but with pigment changes, scarring, and hirsutism Sun reaction looks like angioedema Diagnosis: elevated protoporphyrin in bone marrow, RBCs, plasma, feces

Ehlers-Danlos

autosomal dominant! - there are 6 variants. The classic type: - skin is like a fine sponge/doughy - often have extra skin over hands, feet, and stomach - skin is stretchy (rubbery band) - skin is fragile, splits easily - will have gaping fish-mouth appearance with a tear that doesn't bleed much - scars look unusually thin and shiny - bruising is common - joint hypermobility is common, but not in all types - often have: MVP, aortic dilatation

von Hippel-Lindau syndrome

autosomal dominant, highly penetrant multisystem cancer disorder - mutation in a tumor suppressor gene Diagnosis criteria: - 2 or more hemangioblastomas in the CNS or retina OR - 1 hemangioblastoma plus one of these: pheochromocytoma, endolymphatic sac tumor, cyst in the kidney/pancreas, renal cell carcinoma, pancreas neuroendocrine tumor OR - 1 of the above + a first degree relative Classic presentation: cerebellar hemangioblastoma in adolesnce or retinal angioma by 10 years old. leading cause of death is RCC

Factor XI deficiency (Hemophilia C)

autosomal recessive less bleeding then hemophilia A and B, usually don't get hemarthroses - bleeding risk doesn't correlate level of factor XI - tend to have more mucosal bleeding than A and B

Osteoblastoma

benign, commonly in the vertebrae, presents with dull, aching pain for months treatment is removal and bone grafting if necessary common boards distractor

Dermatofibroma

benign, firm, brown papule, usually on the legs - make a button hole/dimple when the sides are squeezed together - 2/2 minor injury

Management of dyslexia

best way to promote language development is to read aloud at home Screen for learning issues, dysmorphinc features, sensory deficits (hearing/vision) Monitor sibs for signs, but no formal eval is needed

Neurofibromatosis 2

bilateral vestibular schwannomas (acoustic neuromas) autosomal dominant No genetic similarity to NF1 - vestibular schwannomas cause hearing loss, tinnitus, imbalance, and facial weakness

Polyarteritis nodosa features

biopsy: FIBRINOID necrosis - ANCA NEGATIVE - affects medium-sized arteries (p-ANCA = microscopic polyarteritis and churg-strauss) (c-ANCA = Wegener's (think URI involvement))

Prostate metastases

bone and lymph nodes

Lissencephaly (agyria)

brain without cerebral convolutions and a poorly formed sylvian fissure smooth cerebral surface If survive to birth: - blind, developmental delay, severe seizures

Iron supplementation

breastfed babies should have 1 mg/kg of Fe starting at 4-6 mos of age until diet is adequate If preterm, should get 2 mg/kg until 12 mos Formula fed babies don't need additional Fe

Effects of indoor air pollution

burning wood and solid cooking fuels pose a health risk to children in developing countries, increases the risk of acute lower respiratory infections - also, the leading cause of non-tobacco related lung ca in women

Secondary Sjogren Syndrome

can be 2/2 any connective tissue disease (RA, SLE, polymyositis, scleroderma) - Associated with HLA-DR3 Of note, 40x increased risk of lymphoma in patients with Sjogren

Olecranon bursitis

can be 2/2: trauma, infection, gout, or RA - traumatic generally d/t chronic pressure (student's elbow)

Empty sella syndrome after pregnancy

can be NORMAL - gets stretched out and will appear empty. If normally functioning endocrine system, nothing further to do

Large cell NHL

can have involvement anywhere, including abdomen, mediastinum, or unusual sites (skin, bone, lung) - lymphadenopathy will be TENDER and B symptoms are very common

Macrophage activation syndrome

can occur in children with systemic JIA - elevated transaminases - coagulopathy - thrombocytopenia Triggered by uncontrolled JIA, viruses, or drugs Requires prompt steroids and cyclosporine

Congenital scoliosis is associated with

cardiac and GU defects

Chiari I malformation

cerebellar tonsils or vermis is pushed below the foramen magnum - Sxs are 2/2 dysfunction of lower cranial nerves, brainstem: dysphagia, vertigo, sleep apnea, ataxia, HA, neck pain - strong association with syringomyelia

Mercury during pregnancy

cerebral atrophy, seizures, developmental delay

pseudo-Pelger Huet cells

characteristic of MDS

Pleural effusions in rheumatoid arthritis

characterized by LOW FLUID GLUCOSE - will have normal protein and WBC counts

Differential for white pupillary reflex in newborn

chorioretinitis retinopathy of prematurity retinoblastoma Cataract will be black-gray, not white.

Balkan Nephropathy

chronic tubulointerstitial condition, unclear etiology, in the Balkan region. maybe d/t a plant in that region that produces aristolochic acid Increased risk of urothelial cancers

Heerfordt Syndrome

classic presentation of sarcoidosis: - uveitis - parotid gland enlargement - fever If all of these are present, no need to get tissue diagnosis of sarcoidosis (also Lofgren syndrome)

ARDS presentation/management

clinical: - acute onset of diffuse bilateral infiltrates - PaO2 ratio <200 - no evidence of cardiac pulmonary edema Mgmt: - TV 6 mL/kg (ideal body weight) - this may result in hypercapnea d/t poorer ventilation, but that is better than higher TV

Hemophilia B (factor IX)

clinically indistinguishable from hemophilia A - Also x-linked recessive, with prolonged PTT - 1/10th as common as hemophilia A Manage acute bleeds with recombinant factor IX

Pierre Robin sequence

embryologic defect of mandibular hypoplasia: - displacement of the tongue - U shaped cleft palate - small jaw - respiratory distress - feeding problems

Things that reduce physician error

computerized order entry

What other problem is associated with submucosal cleft palate?

conductive hearing loss Due to chronic serous otitis media - should have regular hearing screens

Prune Belly Syndrome

congenital absence or deficiency of the abdominal wall musculature Associated with: - cryptorchidism - dilation of the prostatic urethra, bladder, and ureters RARE in girls Presentation types: - in utero with complete urethral obstruction - get oligo, pulmonary hypoplasia, usually fatal - most common: significant GU anomalies but NORMAL renal fxn

Rotavirus

contraindicated in: - SCID - history of intussusception

Speech/language milestones

coos - 2-4 mos squeals - 4 mos babbles - 6 mos mama/dada/polysyllabic babbling - 9 mos specific mama/dada - 9-12 mos understands 1 step commands - 15 mos uses >5 words - 18 mos can identify 4 body parts - 18 mos 10-50 words - 13-18 mos 2 word sentences - 18-24 mos 100-200 words, 50% understood speech - 24 mos understands prepositions - 30 mos 3-4 word sentences, 75% understood - 36 mos speaks in paragraphs, uses past tense - 4 years identifies gender - 4 years operational thinking - 6 years

47XYY

generally taller than average - no longer thought to impart behavior issues

Diagnosing HIV in a newborn

get HIV DNA by PCR (RNA is only for quantifying virus for progression, not for diagnosis) Antibodies will be maternal, so not helpful

If concerned about a micropenis:

get a STRETCHED penile length before concluding it is micro <1.8 cm = micropenis

Diffuse esophageal spasm

corkscrew esophagus

Diagnosis of bladder cancer

cystoscopy Urine cytology alone isn't sensitive enough, but can be done in addition to find cancer that isn't seen on scope

Autoimmune Hemolytic Anemia

d/t IgG or IgM antibodies IgG antibodies are WARM antibodies (react best at body temperature). Typically bind to RBC membrane proteins - idiopathic or 2/2 neoplasm or connective tissue dz. - direct Coombs positive (b/c detects antibodies on cell's surface) - tx with steroids IgM antibodies are COLD antibodies (react best at room temperature). Typically bind to complement - direct coombs negative - get RBC clumping on smear - 2/2 neoplasm or infection (Mycoplasma, mono) - Treat with warm environment, tx underlying cause. Steroids don't help.

Acromegaly arthritis

d/t cartilaginous expansion in response to growth hormone - single or multiple big joints and hands - xrays c/w OA - joint fluid noninflammatory - look for soft tissue enlargement of hands and feet - carpal tunnel and CPPD deposition are associated with this

Bilirubin-induced neurologic dysfunction (BIND)

d/t deposition of unconjugated bilirubin in the brain (esp basal ganglia, hippocampus, geniculate bodies, cranial nerve nuclei) In contrast, kernicterus means either BIN or the permanent sequelae of BIND. Level of bili that causes kernicterus depends on other intervening comorbidities MRI will show high-intensity signals

Erb palsy

damage to upper part of brachial plexus (5th and 6th nerve roots) 2/2 lateral traction during delivery - arm held along the body with internal rotation (waiter's tip position) May improve if nerves just stretched, but if not gone in days-weeks, may be torn Associated with ipsilateral clavicular fractures

Smith-Lemli-Opitz Syndrome

defect in cholesterol synthesis Facial features can be severe: - microcephaly - broad nasal tip - cleft palate - low set ears - ptosis - micrognathia Can also have: postaxial polydactyly, overlapping fingers, abnormal thumbs, hypospadias, ambiguous genitalia - common to have congenital heart issues Labs: low or normal cholesterol, high 7-dehydrocholesterol

Fanconi anemia

defect of DNA repair - presents with aplastic anemia (mean age 8-9) Classic features: - short stature - absent or abnormal thumbs - abnormal radii - microcephaly - cafe au lait spots - dark pigmentation - renal anomalies - 15% risk of AML (also at higher risk for hepatic malignancy and squamous cell carcinoma)

Sphingolipidoses

defects in the lysosomal breakdown of sphingolipids - get buildup of the lipophilic core (called ceramide) Examples: Gaucher, Niemann-Pick, Tay-Sachs, Fabry Summary WITH CNS DISEASE: - Tay-Sachs (no visceral involvement) - Gaucher types 2 and 3 (with HSM) - Niemann-Pick types A and C (with HSM) - Niemann-Pick type A (with vascular and pulmonary) WITHOUT CNS DISEASE: - Gaucher type I (predominantly HSM) - Niemann-Pick type B (predominantly HSM) - Fabry Disease (peripheral nervous system, skin lesions, cardiac, renal, vascular, pulmonary)

Nutritional challenges in cholestatic liver disease

get fat soluble vitamin deficiency due to: impaired micellar solubilization (reduced intraluminal bile salts) means not absorbed. But not a primary intestinal absorption problem.

Trisomy 18 (Edwards Syndrome)

girls:boys 4:1 - increased risk with older maternal age Common findings: IUGR - microcephaly - small face/mouth - short sternum - rocker bottom feet - clenched fist with overlapping fingers - heart defects (90%) - usually VSD with multiple dysplastic valves 50% die in first week, 40% die by age 1 (usually of central apnea)

Spinal cord compression

diagnosis: MRI (get all levels, not just the one of concern) Treatment: Decadron, radiation, sometimes surgical

Genomic imprinting

differences in gene expression depending on whether the disease came from the mother or the father (e.g. Prader-Willi (dad) vs Angelman (mom) )

Fructose 1,6-diphosphatase deficiency

disorder of gluconeogenesis Get severe metabolic acidosis, hypoglycemia, hyperventilation, seizures, and coma Often triggered by decreased PO during an illness Treatment: avoid fasting

Smith-Lemli-Opitz Syndrome

disorder of sexual differentiation - genotypic males have ambiguous genitalia Associated with: - growth retardation - microcephaly - ptosis - severe ID Type I: associated with pyloric stenosis Type II: Associated with Hirschsprung

Isopropyl alcohol ingestion labs

does NOT cause elevated anion gap (methanol and ethylene glycol do)

Classic presentation of long QT syndrome

drowning or near-drowning (esp after diving in) - suspect with family hx of sudden death, seizures, and hearing loss

Etiology of eosinophils in the urine

drug-induced interstitial nephritis

Nightmares

during REM sleep onset ages 3-5 tend to occur during the last 1/3 of the night - child will awake and be distressed

High Grade Astrocytoma

e.g. GBM - treat with surgery, but generally cannot be completely excised

Kidney anatomy

glomerulus --> proximal tubule --> loop of Henle (thin descending, thin ascending, thick ascending) --> early distal tubule --> late distal tubule/collecting tubule --> medullary collecting duct

side effect of UNOPPOSED estrogen

endometrial hyperplasia --> endometrial ca

Traveler's diarrhea

enterotoxigenic E coli

Instead of osmotic fragility test, do.....

eosin-5-maleimide binding test

Acute interstitial nephritis

eosinophils in the urine Sediment: eosinophils, RBCs, WBCs, WBC casts Common drug culprits - ABX (esp methicillin, bactrim, rifampin) - NSAIDs - cimetidine - thiazides - phenytoin - allopurinol NSAID-induced AIN is different than the rest - NSAID ingestion may have been months earlier, often don't have eosinophilia, often HAVE nephrotic-range proteinuria

Examples of chromosomal instability syndromes

have an increased frequency of chromosomal breaks Ataxia-telangiectasia Bloom syndrome Fanconi Syndrome Xeroderma pigmentosum

Growth after menarche

have ~7.5 cm of further growth after menarche

Definition of frank hemothorax

hct >50% of the peripheral Hct

The most common symptom of acutely elevated CO2

headache can also get agitation, confusion, tachycardia, flushing, hypertension

Strabismus

esotropia is most common - r/o pseudostrabismus from wide nasal bridge or epicanthal folds

Acute adrenal insufficiency

etiologies: - hemorrhage (after trauma or anticoagulation) - emboli - sepsis (meningococcemia) Get flank/back pain, hypotension Labs with hyponatremia, hyperkalemia, low Hct Treatment: - draw cortisol and ACTH levels - give hydrocortisone, IV fluids

confirming brain death

exclude hypothermia, hypotension, metabolic issues, sedating meds must have TWO exams by different examiners done 12-24 hours apart - confirm absence of brain stem reflexes, including reflex to breathe - EEG, etc are not necessary

Suspecting vocal cord dysfunction

exercise-induced dyspnea (esp with lack of response to albuterol) Refer to speech therapy

Hemifacial microsomia

external ear anomalies with maxillary or mandibular hypoplasia Findings: - small auricles, blind or absent external auditory meatus - can also have cervical vertebral anomalies - ear anomalies go with kidney anomalies - should have renal U/S If epibulbar lipodermoids (fibrous/fatty masses of the globe) are present in addition, it is called Goldenhar Syndrome

Hemophilia B cause

factor IX deficiency x linked recessive

Hemophilia A cause

factor VIII deficiency x linked recessive

Factor XII deficiency

factor XII = Hageman factor Labs: very long PTT, normal PT DO NOT have clinical bleeding issues

Defects in fatty acid oxidation

fatty acid oxidation occurs in the mitochondria - gives us energy for heart and skeletal muscle, also generates acetyl-CoA which is needed for the Krebs cycle. - there are 12 disorders affecting mitochondrial fatty acid oxidation, MCAD is most common - presentations: problems with hepatic, skeletal, muscular, and cardiac systems - Treatment: acutely with D10 and L-carnitine. Long-term keep the glucose from getting low

When to suspect Wiskott Aldrich

features: TCP (with small platelets), eczema, immunodeficiency Presents in infancy with TCP, bloody diarrhea, mucosal bleeding, petechiae, purpura, eczema, and recurrent infections, esp otitis

Febrile transfusion reaction

fevers/chills common, a reaction to leukocytes in the blood transfusion Should stop transfusion, send hemolysis labs. If labs negative, treat with antipyretics

Presentation of a young woman with AKI and severe HTN

fibromuscular dysplasia

Dupuytren Contracture

finger flexion contractures 2/2 thickening/contracture of the palmar fascia - can see cord-like bands on the surface of the palm - associated with DM, EtOH, malignancy

Trigger finger

finger gets stuck in full flexion at the PIP joint 2/2 swelling of the flexor tendon (over the palmar aspect) Tx: splinting, steroid injections. surgery is curative

Subgaleal hemorrhage

firm, fluctuant swelling over the scalp extends posteriorly to the neck, and/or in front of the ears (displaces them laterally)

Conjunctivitis in the newborn

first 24 hours: chemical 2-5 days: gonorrhea (copious purulent discharge) 5-14 days: chlamydia

6 month vaccines

first flu vaccine (not life until age 2). HepB#3 DTaP#3 PCV13#3 IPV#3 (any time btn 6 and 18 mos) Rotateq will require a 6 mos dose, Rotarix will not

Gottron papules

flat, red-violet, scaling papules over the knuckles - SPECIFIC for Dermatomyositis

Hot tube use or maternal fever

for prolonged periods during days 14-30 post-conception, can increase risk of neural tube defects

Struvite stones

form staghorn calculi suspect infection (esp Proteus, also pseudomonas, yeast, staph)

Isopropyl alcohol ingestion

fruity breath High ketones

Use of hsCRP

high-sensitivity CRP can guide prevention in patients with interediate (10-20%) cardiac risk (JUPITER trial) The JUPITER trial found that healthy individuals with elevated CRP (>0.2 or 0.3) AND LDL <130 had reduced cardiovascular events on Crestor vs placebo.

Fetal alcohol syndrome

highest risk with 8-10 drinks/day, but even at risk with 2 drinks/day To diagnose, need one from each of the three categories: 1. Facial abnormalities - shortened palpebral fissures, epicanthal folds, hypoplastic nasal root, short/upturned nose, hypoplasic/absent philtrum, thin upper lip, midface hypoplasia 2. pre or postnatal growth deficiency - weight <10th percentile, microcephaly, length/height ratio <10th percentile 3. Cognitive abnormality The most frequently documented cause of intellectual disability!

Roseola is caused by...

human herpes virus (6 or 7) - high fever for several days, sometimes with febrile sz, V/D - rash appears after the fever resolves - maculopapular, trunk and extremities

Denys-Drash Syndrome

in 46 XY - associated with nephropathy, ambiguous genitalia, and Wilms tumor. - have total deficiency of testicular function

Bartter Syndrome

hyperaldosterone syndrome - will have elevated renin - NO HYPERTENSION - associated with nephrocalcinosis/increased Ca excretion Presents as NEONATE with severe dehydration

Cushing Disease

hypercortisolism 2/2 high ACTH (ACTH-dependent) - usually 2/2 pituitary microadenoma, resulting in bilateral adrenal hyperplasia

Tumor lysis labs:

hyperkalemia, hyperuricemia, hyperphosphatemia, acute kidney injury (d/t prior)

Friedrich Ataxia

hypoactive/absent DTRs Ataxia Impaired vibratory/proprioceptive function Hypertrophic cardiomyopathy DM

Etiology of elevated BUN:Cr ratio

if >20:1 think: - prerenal - increased protein breakdown (high protein intake, GI bleed, TPN, catabolic states, steroids)

tuberculosis with pleural effusion

if AFB of sputum is repeatedly negative, get pleural BIOPSY for diagnosis. effusion fluid smear is rarely positive.

Management of very high WBC count

if blasts >100K (look at # of whites and % of blasts), should do EMERGENT LEUKOPHORESIS before working up further with BMbx, etc

Cocaine use in pregnancy

increased risk of miscarriage, stillbirth, premature delivery - babies are jittery/irritable - no known long term effects

Febrile seizures

increased risk with: rate of rise of temperature, certain infections (roseola/HHV-6, Shigella), family history Management: - LP only if meningeal signs, uninmmunized, or ABX prior to the seizure - DO NOT get routine labs or imaging or EEG DO NOT give AEDs for febrile seizures, even if recurrent. At risk for recurrence: - first before 18 mos - history of 1st degree relative with febrile seizures - seizure with only modest temp (<104/40C) - seizure with only a brief fever

Seborrheic Dermatitis

infant rash - greasy, yellow-ish scales in the scalp/eyebrows - also along ears, nape of neck, and skin folds - if on scalp: cradle cap Treatment: low potency topical steroid

De Quervain Tenosynovitis

inflammation of the flexor tendon of the thumb - pain and tenderness over the styloid process of the distal radius Dx: Finkelstein test (forced ulnar motion of the wrist with the thumb adducted) Tx: splinting, steroid injections, NSAIDs

Gilbert Syndrome

inherited cause of UNconjugated hyperbilirubinemia - under-active conjugating enzyme

Effect of aspirin on plts

irreversibly inactivates plt cyclooxygenase - for the entire lifespan of the plt

Untreated compartment syndrome can lead to:

ischemia of the muscles with resultant contracture formation (equinovarus foot deformity, e.g.) Less commonly, can also get fracture malunion, delayed fracture healing, infection, leg length discrepancy

IgA Nephropathy

most common cause of gross hematuria in children - usually idiopathic, can be associated with: cirrhosis, Crohn's, HIV, Mycoplasma infection, CF - get recurrent, painless gross hematuria (recurrent is unlike most other GN) - can occur concurrently with infection (strep is 1-2 weeks after) - 10-20% will get progressive kidney failure Labs: - C3 is NORMAL - IgA levels not helpful - need biopsy for diagnosis Treat if high risk for progression (male, older adults, elevated Cr, HTN, persistent and severe proteinuria - treat with: ACEi for HTN/proteinuria, omega 3 fatty acids to slow progression of renal insufficiency, steroids, sometimes immunosuppresion

Malignant pericardial effusions

most common in: lung, breast, NHL

Linear scleroderma

most common localized scleroderma in children - when on the face: en coupe de sabre (associated with seizures, uveitis, dental defects) - get linear streaks, usually dermatomal pattern - get more indurated/deeper with time, extending to the muscle and bone

Takayasu arteritis

large vessel vasculitis - get arteritis of the aorta and its major branches --> weak or absent pulses in the upper extremities - coarctation or hypertension with systemic findings of fever, arthritis, and myalgia - can also have audible bruit over the aorta or major branches

Simple partial seizures

last 10-20 seconds - most commonly focal motor findings (asynchronous clonic or tonic movements of the face, neck, extremities - can still interact, no loss of consciousness - no post-ictal confusion

Transient Tachypnea of the Newborn

late preterm (34-37 weeks) after c section (more common) or precipitous vaginal delivery Can have tachypnea, grunting, nasal flaring, mild retractions Cyanosis, if present, is only mild Lung exam is clear, CXR with prominent pulmonary vasculature and fluid in the fissures Usually resolves in 12-24 hours

Porphyria Cutanea Tarda

most common of the porphyrias hepatic type Presentation: cutaneous photosensitivity - get fluid-filled vesicles and bullae on sun-exposed areas - usually have underlying liver damage and are predisposed to HCC Diagnosis: increased porphyrin level in blood, urine, stool Treatment: avoid flares, phlebotomy to reduce hepatic iron

Anti-centromere Ab

limited cutaneous scleroderma (CREST) primary biliary cirrhosis

Drug causes of B12 deficiency

long term PPI can cause decreased absorption and resulting deficiency

Work up of GERD

look for alarm symptoms (dysphagia, anemia - read carefully!, weight loss, vomiting) - if present do endoscopy if absent, can do PPI trial

Hypermobility syndrome

look for inherited CTD (Ehlers-Danlos, Marfan) - can get joint pain, muscle pain, and transient joint effusions (esp hands and knees)

Burkitt Lymphoma

most common pediatric NHL. - usually presents as an abdominal mass or pain with associated N/V - very fast growing (can double size in 2-3 days)

Henoch-Schonlein Purpura

most common vasculitis of childhood - more common winter/spring - IgA medicated - often associated with URI (50% of the time) Sxs (order of frequency): 1. rash (in all pts) 2. joint involvement (25% with arthritis) 3. GI Sxs (colicky abd pain, vomiting, can precede the rash) --> U/S with increased echogenicity/thickness of 2nd part of duodenum. If severe pain, U/S to r/o intussusception (get ileoileal intussusception with HSP) 4. Renal issues, 10-50% Mgmt - monitor for renal issues for 3-6 mos - most supportive care - can get recurrence , 40%, up to 2 years after

Biopsy of vitiligo will show:

loss or absence of melanocytes

Klumpke palsy

lower brachial plexus injury (Erb is upper) 7th and 8th cervical and 1st thoracic roots claw-like posturing of the hand Associated with breech deliveries Less likely to improve than with Erb palsy If involves sympathetic fibers of first thoracic nerve, can get Horner syndrome

Gaucher disease

lysosomal storage disease - causes splenomegaly - may cause thrombocytopenia - will NOT cause neutropenia

Cisplatin

magnesium-wasting, neurotoxicity, nephrotoxicity

Germinoma

malignant germ cell tumor - in ovary and testes, can also be extragonadal (intracranial usually) Generally tumor marker negative (negative AFP and bHCG)

Choriocarcinoma

malignant tumor of syncytiotrophoblast tissue Commonly in the ovary, anterior mediastinum, or intracranial - bHCG elevated, AFP normal

Rapidly progressive GN

many disorders can present this way - rare in childhood 3 types: 1. Anti-GBM disease (goodpasture or just anti-GBM nephritis) 2. Immune complex nephritis (post-strep GN, IgA nephropathy, membranoproliferative, lupus, endocarditis) 3. pauci-immune dz (granulomatosis with polyangiitis, polyarteritis, Churg-Strauss) Presents as gross hematuria, edema, anemia, HTN. Usually not nephrotic syndrome

Diseases with a cherry red spot

many lipid storage disorders: - GM1 gangliosidosis - Sandhoff disease - Niemann-Pick disease - mucolipidoses - infantile Gaucher - Tay Sachs

xray findings of gout

marginal erosions

ATN features

mechanism: transient ischemia or nephrotoxin - Get necrosis of the renal epithelium, and the tubules fill up with debris ATN labs: - BUN:Cr ratio is 10-15:1 - U Osm <350 (tubules cannot work right to concentrate) - U Na >40 - FENa >2% - URINE CASTS: muddy brown granular casts, epithelial casts

Pes Anserine bursitis

medial aspect of the proximal tibia, 3 cm below the knee joint (3 tendons insert there) - Pain with climbing stairs

Polyarteritis Nodosa

medium sized artery vasculitis - associated with Hep B and strep infection Presentation: - fever, anorexia, fatigue - HSP-like rash or other rashes - myositis - Renal artery involvement (hematuria, proteinuria, or HTN) - causes ORCHITIS (esp with hep B) does NOT cause glomerulonephritis (microscopic polyangitis does)

Wegener Granulomatosis

medium-artery vasculitis Affects sinuses, lungs, kidneys (pulmonary renal) Necrotizing granulomas - sometimes with skin rash, migratory large joint arthritis Diagnose with skin Bx: vasculitis, necrosis, granulomas labs: c-ANCA, anti-PR3 (exclude goodpasture, which will have anti-GBM) Can have a limited-wegener's without renal involvement, less likely to have +c-ANCA Like PAN, aggressive and deadly without treatment. Treat with steroids/cyclophosphamide ALL patients should take Bactrim 2/2 increased risk of PCP

Nevus of Ota

melanocytic lesion on the face in the V1 or V2 distribution Increased risk of melanoma and glaucoma

Nevus of Ito

melanocytic lesion over shoulder, neck, upper arm

Breastfeeding with AEDs

not contraindicated Phenobarbital can cause sleepiness/poor suck

Contraction stress test

noting changes in FHR in response to breast stimulation or oxytocin

Symptoms of leptomeningeal spread

mental status changes neck/back pain radicular pain bowel/bladder dysfunction weakness

Head growth issues

micro and macrocephaly are 2 SD above or below the mean To evaluate: Microcephaly is best evaluated by CT or MRI Macrocephaly is best evaluated by head ultrasound (looking for hydrocephalus) When evaluating sutures: should close by 12-24 mos, ossify by 8 years

Pierre Robin syndrome

micrognathia with posterior displacement of the tongue and respiratory compromise Suspect with protruding tongue with small mouth and/or cleft palate

Missed question: Vincristine

mild myelosuppressive, can be used despite leukopenia

Preeclampsia

more common in first pregnancy and in 3rd trimester Treat to prevent stroke - treatment doesn't effect the outcome of preeclampsia itself Treat if symptomatic (headache, seizures, hellp) or >150/95 Meds: labetalol, methyldopa, nifedipine, thiazide Contraindicated: ACEi, ARB, renin inhibitor, nitroprusside

4p- deletion (Wolf-Hirschhorn syndrome)

more common in girls 87% cases are de novo Features: - greek helmet facies (ocular hypertelorism, frontal bossing) - growth deficiency - beaked nose - short philtrum - hypertension - cardiac anomalies (50%) - seizures (90%)

Vinblastine

myelosuppression

anti-synthetases

myositis Anti-Jo1 = an anti-synthetase

Gaucher Disease IV

neonatal presentation - thick, shiny skin - multiple congenital abnormalities - HSM - poor suck - hydrops die in days to weeks

Vincristine

neurotoxicity (loss of reflexes, paresthesias)

Nafcillin can cause:

neutropenia

Normal sleep

newborns sleep 12-16 hours/day 6-15 mos sleep 10-12 hours at night with 2 naps Starting at 15 mos only one nap/day No nap starting at 4 years old Can put self back to sleep starting at 3-4 mos

Fluoride recommendations

no supplements before 6 mos If water supply w/o fluoride, should start supplements at 6 mos, continue until age 16 Not needed if water content is > 0.6 PPM

Common breast cancer chemo regimens

node negative: AC (doxorubicin/adriamycin + cyclophosphamide) node positive: AC+T (AC plus taxol (paclitaxel))

Sleepwalking

non-REM sleep ages 4-8 - should ensure safe environment, lead the child back to bed

Fibromyalgia

non-inflammatory Complain of diffuse muscle aches and stiffness, as well as excessive fatigue/non-restorative sleep Look for tender points on exam (should have 11 or more) at: occiput, chest, hips, upper glut, mid-scapula, superior mid-trap, elbow, medial knee, C5-C7. - use "control" points that shouldn't be tender: forehead, finger, anterior thigh Associated with: depression, stress, migraines, emotional trauma, IBS Treat with: stress reduction, vigorous exercise, antidepressants, non-narcotic analgesics Treat sleep with TCAs which increase stage 4 sleep (lacking in fibromyalgia) Lyrica and Neurontin address pain SNRIs or SSRIs can be used

Proteinuria ranges, by spot ratio

normal = <0.15 ~150 mg microalbuminuria = 0.03-0.3 ~30-300 mg overt proteinuria = 0.3-1 ~ 300-1000 mg nephrotic range = 2.5-3.5 ~ 2-3 grams

Delayed separation of the umbilical cord

normal is 10-14 days, but put to two weeks If longer than 1 month, think leukocyte adhesion deficiency

Rheumatoid Factor

not SPECIFIC for RA, but positive 80-85% of cases

Convulsive syncope

occurs in 5-15% of patients with cardiogenic/vasovagal syncope no need for EEG/MRI - offer reassurance

Dermoid cyst management

often on or superior to the orbital ridge (lateral corner of the eyebrow) - usually presents in first 2 years, grows slowly - will be nontender, asymptomatic, subcutaneous - usually skin colored, feel firm/rubbery - should be referred to surgery for complete excision - if left alone, could erode into the underlying bone or develop infection

Hunter Syndrome (MPS II)

on X chromosome, ONLY IN MALES - severe form can look like Hurler syndrome - mild forms have normal life span Two features to know (in comparison to Hurler): - X linked - NO corneal clouding (unlike Hurler) Clinical features: - learning issues - middle ear dz - hernias - coarse facial features - diarrhea - joint stiffness - HSM - nodular rash aruond the scapulae and extensor surfaces is pathognomonic but rare in kids

CMML (chronic myelomonocytic leukemia)

overlap of MDS have similar hypercellular bone marrow with dysplasia - look for t(5;12)(q33;p13) - patients tend to be older, have poorer prognosis - may respond to imatinib (Gleevec) therapy

Legg-Calve-Perthes disease

partial or complete idiopathic AVN of the femoral head - usually in boys ages 3-12 (peak ages 5-7) - xray will have femoral head looking fatty and misshapen Management: - no weight bearing on affected limb - referral to ortho - resolves with time, no treatment makes it resolve faster

contraindication to kayexalate

patients with recent gut surgery and in patients with ileus the sorbitol is associated with colonic necrosis in these patients

Microphallus

penile length <2.5 cm - 2/2 gonadotropin deficiency - Suspect central causes: Kallman syndrome, Prader-Willi, panhypopit

PFAPA

periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis - ages 6 mos - 7 years - benign syndrome fever will last 5-7 days and quickly respond to prednisone (usually fever free for 4 weeks) with steroids, can decrease the time in between intervals

Potter Syndrome/sequence

phenotypic features d/t oligohydramnios: - pulmonary hypoplasia (causing respiratory distress in the newborn) - abnormal fascies (pseudoepicanthus, flattened ears/nose) - limb abnormalities (club feet, hip dislocation) Oligo is d/t renal issues - classically with bilateral renal agenesis, but can also be ARPKD. - often have hepatomegaly - get congenital hepatic fibrosis

Light's Criteria (for exudate)

pleural fluid protein/serum protein >0.5 pleural fluid LDH/serum LDH >0.6 pleural fluid LDH >2/3 of normal serum LDH if ALL negative, call it transudative

Vaccine recommended for all children with nephrotic syndrome.

pneumococcal vaccine

Children that have had UVCs can get:

portal vein thrombosis, and ultimately portal hypertension years later

Plagiocephaly

positional flattening of the skull - can be severe enough to cause ipsilateral frontal prominence or anterior displacement of the ear - sometimes confused with lambdoid synostosis, which is rare and will have posterior/inferior ear displacement. Can differentiate with xray - will STOP progressing once children start to roll over

SCFE (slipped capital femoral epiphysis)

posterior slippage of the epiphysis off of the metaphysis - get limp and impaired internal rotation - often in obese child in early adolescence near time of peak linear growth - more common in african americans Management: - immediate referral - usually gets surgical repair

Time course of acute rheumatic fever

presents THREE weeks after initial infection

CMV after kidney xplant

presents as CMV syndrome in the first few months after transplant Fevers, cytopenias, hepatitis (can also cause pneumonitis or colitis) Increased risk if sero+ donor and sero- recipient. Treat with IV ganciclovir or oral valganciclovir

Presentation of salt-losing CAH

presents at 1-2 weeks of life with: - failure to thrive - weight loss - dehydration - vomiting, anorexia - commonly results in electrolyte abnormalities and death - in males, frequently mis-diagnosed as pyloric stenosis as no external signs

C. psittaci infection

presents with abrupt onset of fever, headache, and dry cough IF recent contact with birds - often with splenomegaly - CXR looks worse than patient does

TAR syndrome (amegakaryocytic thrombocytopenia with absent radii)

presents with bleeding in neonatal period - severe thrombocytopenia but no other blood abnormalities - newborns with no radii (but normal thumbs, unlike Fanconi, trisomy 18) - plt counts generally improve

Type I Glycogen Storage Disease

primary liver type Defect in glucose-6-phosphatase in liver, kidney, and intestinal mucosa - failure to make glucose. - get severe, rapid fasting hypoglycemia Clinical: present at 3-4 mos with hepatomegaly, FTT, hypoglycemia with seizures. Will have doll-like face with fat cheeks, thin extremities, large, protuberant abdomen Labs: hypoglycemia, lactic acidosis, hyperlipidemia, NORMAL transaminases despite hepatomegaly Diagnose: high lactate and lipids. Definitive with gene mutation analysis. Treatment: prevent hypoglycemia with continuous gastric feeds initially, oral cornstarch later on.

Type IV Glycogen Storage Disease

primary liver type Get accumulation of abnormal glycogen that has decreased solubility. Presentation: cirrhosis with hepatomegaly and FTT by 18 mos. Death usually by age 5 d/t severe cirrhosis. The abnormal glycogen resembles amylopectin - see deposition in the liver, heart, skin, brain, nerves, and intestine

Type 0 Glycogen Storage Disease

primary liver type Not actually a glycogen storage problem Enzyme deficiency leads to decreased glycogen stores. Infants will have early morning drowsiness and fatigue, sometimes seizures with hypoglycemia Will NOT have hepatomegaly

Type XI Glycogen Storage Disease (aka Fanconi-Bickel Syndrome)

primary liver type associated with consanguinity Have proximal renal tubular dysfunction Presentation: FTT, rickets, protuberant abdomen 2/2 hepatomegaly, normal LFTs

Type II Glycogen Storage Disease (Pompe Disease)

primary muscle type Deficiency in acid maltase, with is responsible for breaking glycogen into lysosomal vacuoles - get glycogen accumulating in the lysosomes instead of the cytoplasm Three forms: Infantile - most severe, cardiomegaly, hypotonia, death before age 1 Juvenile - slowly progressive skeletomuscular symptoms, no cardiac involvement Adult - slowly progressive myopathy Labs: elevated CK, AST, LDH. Muscle biopsy with vacuoles full of glycogen on staining

Type V Glycogen Storage Disease (McArdle Disease)

primary muscle type Usually not symptomatic until 20s-30s. See exercise-induced muscle cramps and exercise intolerance. Often will get a second wind after resting - get rhabdo with burgundy-urine after exercise and elevated CK Diagnosis: exercise patient, see increase in ammonia, NOT in lactate

Glanzmann thrombasthenia

the glycoprotein IIb/IIIa complex is deficient - fibrinogen cannot cross-connect - NORMAL platelet count (Bernard-soulier with decreased plt count)

Bleomycin

pulmonary fibrosis

Granulomatosis with polyangitis (Wegener's)

pulmonary renal syndrome - can have saddle nose deformity - c-ANCA - can also get other manifestations: arthralgias, cough, nasal stuffiness, epistaxis, sinusitis, ocular sxs

Evaluating newborn with nasal stuffiness

r/o nasal obstruction - can get this from nasal suctioning in the newborn period leading to mucosal inflammation and edema - can also be choanal atresia

Membranous nephropathy

rare cause of nephrotic syndrome in children - immune deposits (IgG, C3) in the BM - usually associated with secondary cause (SLE, hep B, congenital syphilis, malaria, CLL, NHL, sickle cell) - usually presents as nephrotic syndrome - need renal bx

Idiopathic pulmonary hemosiderosis

rare form of alveolar hemorrhage that can present as iron deficiency Classic triad: hemoptysis, iron deficiency anemia, pulmonary infiltrates Diagnose with bronch: hemosiderin-laden macrophages

Juvenile myelomonocytic leukemia

rare form of chronic juvenile leukemia - usually before age 2 - markedly enlarged spleen, modest leukocytosis, low plt, and elevated fetal hemoglobin - commonly have skin findings (xanthoma, cafe au lait, eczema) - increased risk with neurofibromatosis I

Secondary syphilis

rash classically involves the palms/soles

Workup of gross hematuria

red = lower urinary tract cola/tea/brown = glomerular More likely to identify a cause in gross hematuria than microscopic hematuria Would work up with UA, renal U/S If ends up being myoglobin, would have clear sediment (b/c no RBCs) but red supernatant (b/c of the myoglobin) (and vice versa)

Failed/equivocal office audiometry

refer for formal testing

Management of acute limb ischemia

revascularization vs amputation if patient presents late (dense anesthesia, severe motor impairment, lack of any doppler-able pulses) must amputate, too late to revascularize.

erythema marginatum

rheumatic fever

Menactra

routine vaccination at 11-12 years old, then booster at 16-18 years old If previously unvaccinated, should get one dose prior to college If at risk for meningococcal (terminal complement deficiency), should get two menactra doses 8 weeks apart at 9-10 years old

Birth defects with maternal DM

sacral agenesis situs abnormalities holoprosencephaly congenital heart disease

Management of relapsed Hodgkin's

salvage chemo followed by autologous stem cell xplant

SCL-70

scleroderma

Test-able mammogram recommendations

screen annually ages 50-74 <age 50 is unclear some recommendations are saying Q2 years

Extra X chromosome syndromes

the more X's, the worse the neurologic problems. Often mosaic, with 46,XX and an abnormal cell line

Tourette Syndrome

the most severe of the tic disorders - often starts as simple motor tic, then progresses to include vocal tics - onset age 7, peak in severity ages 10-12 - Diagnosis: multiple motor and vocal tics lasting at least 1 year, no tic-free interval longer than 3 mos - associated with ADHD, OCD, ODD - stimulants for ADHD can unmask tics

Trisomy 21

screening: low AFP, low unconjugated esteriol, elevated hCG, and elevated inhibin - 94% have full extra 21. 3% have only the long arm, 3% are mosaic Common findings: heart - 50% of affected, AV canal (1/3), VSD (1/3), ASD (1/3) GI: duodenal atresia, Hirschsprung Eye: congenital cataract (5%) Hypothyroidism (check TSH at 3, 6, 12 mos, then yearly) Atlanto-axial instability Leukemia (esp ALL)

Spinal Muscular Atrophy

second most common lethal autosomal recessive disorder (behind CF) Presentation: hypotonia, muscle atrophy, fasciculations - weakness is symmetric, proximal>distal, legs>arms - only affects motor anterior horn cells, so NO sensory or intellectual defects Diagnose with gene mutation screening - SMN1 gene

Neonatal isoimmune neutropenia

self-limited disease in newborns - maternal antibodies to neutrophil antigens - the IgG antineutrophil antibodies cross the placenta and destroy fetal neutrophils - will recover counts in 6-12 weeks

Hypertensive encephalopathy definition

severe HTN with signs of cerebral edema (HA, N/V, confusion, coma, seizures)

HLA-DR4

severe RA

Lead screening

should check at age 1 and age 2 - >5 is abnormal - should be referred for risk evaluation - elevated level by finger stick should be confirmed with venous sample - chelation >45

Treatment of Burkitt lymphoma

should do CNS prophylaxis

Mastocytosis

skin condition where mast cells infiltrate the skin - get the Darier sign (urticaria caused by rubbing the skin) Diagnose with biopsy There is systemic mastocytosis where mast cells infiltrate the bone marrow, liver, spleen, GI tract. Poor prognosis

Fabry Disease

the only X-linked disease of the sphingolipidoses - affects BOYS Presentation: boy presents at puberty with severe, episodic neuropathic pain in the hands/feet. - pain crises often triggered by heat exposure, esp physical exertion - have little sweat - will develop angiokeratomata (tiny red-dark blue papules over buttocks, penis, scrotum, buccal mucosa) by late teenage years Diagnosis: urine with casts and Maltese crosses (birefringent lipid globules)

Social milestones

social smile - 1-2 mos smiles at mirror - 4 mos separation anxiety - 6-12 mos waves bye bye - 10 mos shows toy to adult - 11 mos dresses self - 3 years ties shoes - 5 years symbolic play - 12 mos parallel play - 24 mos fantasy play - 36 mos cooperative play - 3-4 years can tell fantasy from reality - 5 years games with rules - 6 years

Agenesis of the corpus callosum

sometimes asymptomatic, other times with severe intellectual disability - can be inherited - maternal cocaine use associated with this

cervical cancer screening

start at age 21 Screen Q2 years if 30 or older with 3 negatives, screen Q3 years STOP screening at 70

statins and risk of rhabdo

statin + FIBRATE (think gemfibrozil) increases rhabdo risk a lot. cholestyramine has minimal effect

alkylating agents

sterility, secondary leukemias

Treatment of scleroderma - what to avoid

steroids - increase risk of renal crisis

Recognizing Nursemaid's elbow

subluxation of the radial head - radial head slips out of the annular ligament - cannot supinate - holds arm pronated - fix by hyperpronating the arm don't need xray

Mosaic Trisomy 8

the rarest of the trisomies - have to be mosaic to make it to birth Features: - long face - high forehead - thick/everted lower lip - deep palmar and sole creases <-- very characteristic At risk for AML at older ages

tumor marker desmin

think RHABDOMYOSARCOMA

Staghorn calculi

think infection (Proteus, klebsiella)

Hepatitis D

to get it, must have circulating Hep B surface antigen

Chlamydophila pneumoniae pneumonia

suspect with: - chronic, non-productive cough, low grade fever, hyperemic sore throat, hoarseness - history of sore throat, then progression to PNA (contrast to Chlamydophila psittaci, associated with parrots, get PNA with extensive interstitial pattern - CXR looks much worse than the patient does)

Syringomyelia

syrinx (central cavity) in the spinal cord - strongly associated with chiari I malformation Symptoms depend on location Can be sensory, motor, or reflexes Diagnose with MRI

SCL-70

systemic scleroderma

aPML (Acute promyelocytic leukemia, AML M3 type)

t(15;17), mutation involves retinoic acid receptor alpha gene Treatment is different than AML and prognosis is favorable - Treat with all-trans retinoic acid (ATRA) + daunorubicin Can get ATRA syndrome: fever, volume overload with effusions, respiratory distress, and hypotension - life threatening, need high dose decadron. Associated with increased risk of DIC

cholinergic urticaria

tend to get itching/hives with exercise - made worse by sweating or hot water - DOES NOT require further w/u or therapy - should reassure - doesn't respond well to antihistamines

genetic testing in medullary thyroid cancer

test ALL first degree relatives with ret-proto-oncogene. ALL relatives with it would need thyroidectomy, even children.

Work up of a pituitary incidentaloma

test whatever hormonal access seems involved PLUS IGF-1 to r/o acromegaly (which is hard to catch otherwise so should be ruled out always)

Essential Thrombocythemia (ET)

the LEAST aggressive myeloproliferative disorder - Suspect with high plt count - life expectancy is normal, but have increased risk of clots and hemorrhage - clot risk factors: age >60, prior clot, higher platelets Clinical: symptoms of microvascular clots (headache, vision changes), erythromelalgia (pain and redness in hands/feet) Diagnosis: of exclusion. need to r/o other causes of thrombocytosis Treatment: only if symptomatic or high risk of clot. - If high risk/symptoms, give hydroxyurea with goal Plt <400K - if not high risk, give ASA to prevent thrombosis CAN progress to myelofibrosis and acute leukemia

Treatment of sicca syndrome

the ONLY thing that helps is secretagogues (pilocarpine, cevimeline) ALL immunosuppressives, including prednisone, are ineffective.

Which part of the Y chromosome determines male differentiation

the SRY gene

Treatment of ACS with thrombolytics

the following benefit: 1. new LBBB benefits the most 2. anterior STEMI benefits the next most 3. Inferior STEMI benefits less patients with ST depression are HARMED by thrombolytics

Treatment of impetigo

topical or oral depending on severity need to cover staph and strep good choice: Clindamycin

Neonatal testicular torsion

torsion of the entire spermatic cord and testis - painless, swollen, discolored hemiscrotum - the testis is usually lost

nasal stuffiness in newborn differential

trauma mucus in the nostrils drug withdrawal congenital syphilis

all-trans-retinoic acid (ATRA)

treats APML

febrile neutropenia tx

use monotherapy with Cefepime ONLY add Vanc if reason to suspect staph (line, soft tissue infection, hx of staph) or very sick

Cause of normal gap acidosis WITH hyperkalemia

type 4 (distal) RTA Note, other usual causes (diarrhea, types 1/2 RTA) cause hypokalemia

Crigler-Najjar Syndrome

type I: ABSENT enzyme, very high unconjugated bili type II: depressed enzyme activity, bili levels not as high

Alport Syndrome

type IV collagen mutation, 80% x linked Problems with: kidney, ears, eyes

Mantle Cell Lymphoma

type of aggressive NHL - bad prognosis: is both incurable and aggressive - t(11;14) translocation leads to over expression of BCL-1 gene (cyclin D1) - usually involves bone marrow, blood, spleen - commonly in the GI tract Should be treated early, goal is temporary remission

Diffuse Large Cell Lymphoma

type of aggressive NHL - the most common aggressive lymphoma - can occur de novo or from an indolent lymphoma - generally with lymph node disease, but can also involve lung or liver Treatment: R-CHOP (Rituximab, Cyclophosphamide, Doxorubicin, Vincristine, Prednisone). Cycle # depends on extent of disease - Most patients respond, 40-50% have long-term disease control. The other half will become refractory

Waldenstrom macroglobulinemia

type of indolent NHL - B cell lymphoma - Cells produced have plasma cell properties and make monoclonal IgM Symptoms: - lymphadenopathy, splenomegaly - hyperviscosity (headache, dizziness, vision changes) d/t high IgM Treatment of acute hyperviscosity: plasmapheresis In general, treat only with symptoms d/t indolent nature

Hairy Cell Leukemia

type of indolent NHL - rare - components of leukemia and lymphoma - Presents with cytopenias and splenomegaly - smear with hair projections from the cytoplasm Treatment: - responds well to chemo and remission can be prolonged

Prerenal AKI after starting an ACEi, think of what

underlying renal artery stenosis

Schizencephaly

unilateral or bilateral clefts within the cerebral hemispheres Features: severe seizures, microcephaly, severe intellectual disability, spastic quadriparesis

Treatment of shingles

use Valacyclovir (or famciclovir) to decrease duration of post-herpetic neuralgia. No evidence that starting this in the prodrome period is helpful

Post-exercise hyperglycemia

usually 2/2 too little insulin Low insulin triggers hepatic gluconeogenesis. Prolonged exercise also stimulates hepatic glucose release, which further exacerbates. If hyperglycemic after exercising, need more insulin

Delayed cutaneous hypersensitivity reaction to Bactrim

usually an isolated cutaneous reaction - w/in 2 weeks of starting the drug, or sooner with reexposure. Itchy, bumpy red rash Sometimes can be associated with NEUTROPENIA!

NEC

usually in distal ileum and proximal colon Increased incidence with: preterm, asphyxia, hypertonic milk, rapid feeding protocol, intestinal infection. Sxs: abdominal distension, bloody stool (25%) Tx: IV ABX: vanc AND gent PLUS clinda, flagyl, or zosyn frequently need surgery

Post-transfusion purpura

usually in women presensitized by pregnancy - get extremely low plt count 1 week after transfusion, lasts days to weeks. - generally doesn't lead to thrombosis - tx is IVIG

PPHN

vascular resistance doesn't fall, get R-->L shunting, severe hypoxia REFRACTORY to O2 Possible etiologies: meconium aspiration, sepsis, pulmonary hypoplasia, birth asphyxia, congenital diaphragmatic hernia

Thyroglossal duct cyst

ventral midline May extend to the base of the tongue MOVES up and down with swallowing and tongue protrusion

Hand/finger miletones

voluntary grasp - 4-5 mos raking objects - 6 mos transfers between hands - 6 mos premature pincher - 6-8 mos mature pincher - 10-12 mos pat a cake - 9-10 mos scribbles - 15 mos vertical lines - 18 mos uses cup well - 15-18 mos uses spoon well - 2 years large buttons - 3 years fork - 4 years tie shoes - 5 years Cubes: 2 cubes - 13-15 mos 4 cubes - 18 mos 6 cubes - 24 mos 8 cubes - 30 mos

vent use in asthmatics

want PROLONGED expiratory phase so: low tidal volume LOW rate HIGH flows

Phimosis

when the foreskin can't be retracted. Usually should be able to be retracted easily by age 4. If severe, can impede urinary flow Posthitis = preputial inflammation/cellulitis. Balanitis = progresses to involve the glans. Treat with topical or oral ABX Paraphimosis = entraplemtn of phimotic prepuce - get edema and swelling of the glans and foreskin. should have EMERGENT reduction

Management of fibromyalgia

widespread pain/tenderness for at least 3 mos. Treatment: most important is regular aerobic exercise (walking, water aerobics) Meds: Lyrica, also SNRIs (Cymbalta)

When to stop epilepsy meds:

with near-normal EEGs and 2 years seizure-free, can taper off. If more difficult to get under control, can taper off if free for 4 years