PGY412: Exam 1

Secondary adosteronism

- elevated renin release and activation of the angiotensin II - Diagnosis - increase sodium reabsorption, hypertension, renal potassium wasting hypokalemia; characteristic of primary disease suppression of renin - Treatment - correct underlying cause

Type II Diabetes

- insulin resistance, insulin deficiency - Gestational diabetes mellitus

type I diabetes

- no circulating insulin - Autoimmune and idiopathic

Syndrome of Inappropriate ADH Secretion (SIADH):

1. High levels of ADH without normal stimuli causes an excessive amount of water reabsorption 2. Caused by tumor cells that secretes ADH (small cell carcinoma of the lung is the most common) • Can also be caused by a carcinoma of the duodenum and pancreas, leukemia, lymphoma, Hodgkin disease, brain injuries, stroke, trauma, or a hemorrhage

adrenal insufficiency / addison's disease

1. Incidence 4 in 100,00 (30-60 years old) • Autoimmune disease 2. Clinical presentation: gluconeogenesis decreases, decrease in liver glycogen, hypoglycemia, cant withstand food deprivation • Primary disease: adrenal gland is not secreting things (not glucocorticoids or mineralcoricoids) 3. Diagnosis: lab test (cortisol, aldosterone, androgen) 4. Treatments: • Primary disease: cortisol and fludrocortisone • Secondary disease: cortisol

thyroid neoplasms/ cancers

1. Incidence most common in 20-25-year old's 2 Thyroid nodules are palpable in 5-10% of adults (most are benign) 3. Risk factors radiation of the head and neck regions 4. Clinical characteristics: • Papillary carcinoma (80%), follicular carcinoma (20%), medullary thyroid carcinoma (5-10%), anaplastic carcinomas (rare but fatal)

Pituitary Tumors

1. Secretory produce TOO much hormone which can cause hypersecretion of hyposecretion 2. Non-secretory problems because of size

5 Questions About Neurological Disorders

1. What is the frequency in the population? 2. What is the cause? 3. What part of the CNS is affected? 4. What functions are affected? 5. What are treatments / cures?

d

A deficiency of antidiuretic hormone results in which of the following syndromes? a. Graves disease b. Addisons disease c. Cushings syndrome d. Neurogenic diabetes insipidus e. Nephrogenic diabetes insipidus

Spontaneous Cushing's syndrome

ACTH dependent - excessive ACTH (if you have too much ACTH you're going to produce excess cortisol) - ACTH independent - adrenal tumor • Primary adrenal tumor less ACTH is produced and excess cortisol is produced • Pituitary adenoma excess ACTH and Cortisol and produced • Ectopic ACTH secreting tumor less ACTH is produced from pituitary, excess ACTH is released from the tumor causing excess amounts of cortisol to be produced 3. Treatment - surgery, cobalt irradiation of pituitary gland

c

Growth hormone deficiency in a child can result in: a. Acromegaly b. Gigantism c. Dwarfism d. Hypothyroidism

b

Mrs. A, a 40 year old social worker, presents with fatigue, tremor, heat intolerance, and excessive weight loss with an increased appetitie. She has localized skin inflitrations confined to her lower legs. She had proptosis of the eyeballs (exophthalmos) with congestive oculopathy, and weakness of extracellular movements. Her signs and symptoms are characteristic of which of the following conditions? a. Hypothyroidism b. Graves disease c. Panhypopituitarism d. hyperclacemia

d

Pheochromocytoma causes an increase in which hormones? a. Glucocorticoids b. Mineralcorticoids c. Androgens d. Epinephrine and norepinephrine

absence generalized seizure

Staring spells / abnormal activity over the whole brain o NO loss of postural tone o Most common in children: looks like they are daydreaming or not paying attention o Frequently outgrown

c

Two principal thyroid hormones produced by the thyroid follicles are 1. Thyroid stimulating hormone (TSH) 2. Thyroxine 3. C cell 4. Triiodothyronine a. only 1, 2, and 3 are correct b. only 1 and 3 are correct c. only 2 and 4 are correct d. only 4 is correct e. all are correct

- NO cure - Treatments are supportive care and therapy; no drug intervention available at this time - Focus on prevention: safety equipment

What are the treatments / cures for CTE?

• There is NO cure but there are treatments to alleviate symptoms • L-dopa a precursor of dopamine that does not work indefinitely but successfully crosses the BBB (can't just give dopamine because it won't pass BBB) • Surgery remove surgical lesions of basal ganglia circuits • Experimental add cells that can synthesize dopamine - New procedure is to implant electrodes directly in the brain and directly stimulate the basal ganglia

What are the treatments /cures for parkinsons?

NO cure - special ed, OT, PT, speech, social services

What are the treatments/ cures for down syndrome?

- Loss of myelin at multiple sites in the CNS which causes damage to the axons - Myelin is replaced by scar tissue (sclerosis) - Scaring can be seen on MRI images

What area of the CNS does MS affect?

Axons descend from the motor cortex down in groups or tracts to the spinal cord and synapse on interneurons or lower motor neurons these neurons also die

What area of the CNS is affected by ALS?

- There is initially changes in structure of the limbic system like the hippocampus (memory and emotional state) - Eventually the whole brain is involved, and all systems are affected

What area of the CNS is affected by Alzheimers?

• basal ganglia group of structure that work with cortex in control of movement - caudate nucleus, putamen, Globus pallidus • NOTE this is a different structure than ALS • Substantia nigra area of the brain that release dopamine - Axons to caudate, putamen, where they release dopamine

What area of the CNS is affected by parkinsons?

• Area of the brain involved varies with seizure type along with the drugs used to treat them • Partial seizures involve limited areas of the brain • general seizures involve the ENTIRE brain

What area of the CNS is affected by seizure disorders?

• Short term: damage or degeneration to major axon tracts • Long term - degenerative and progressive process involving the accumulation of an abnormal protein in neurons of the cortex and hippocampus

What areas of the CNS are affected by CTE?

• Motor system is ONLY affected gradual loess of motor control and eventual death by respiratory failure - All of your muscles eventually stop working - Affects motoneurons, brainstem, motor cortex, cerebellum, basal ganglia - Specific cell populations and fiber tracts are affected - The upper and lower motoneurons and their axons die - Lower motoneurons are the first to be affected - The axons that go form the cell bodies in the spinal cord cause muscle fibers to contract because they send action potentials out to the terminals - If a motor neuron dies, its axon also dies and as a result you don't have these tropic factors released into the muscle and therefore muscle fibers also atrophy and die

What functions are affected by ALS?

• Loss of cognitive function • Memory loss (hippocampus) • For the most part they are still able to walk / move but they don't know who they are or even where they are • Eventually there are affects all over the brain • Death from AD is usually from medical causes: infections etc. • Motor functions remain much longer but eventual loss of voluntary movement, bladder, bowl control • There is a lot of individual variability with this disease

What functions are affected by Alzheimer's?

• Cognitive and affective symptoms (depression, suicide) • Problems with memory, impaired judgement, impulse control, aggression • Can lead to dementia

What functions are affected by CTE?

irritability, inc muscle tone, stiffness, loss of motor control, seizures and blindness

What functions are affected by Krabbe disease?

• Myelin can be affected anywhere in the CNS any or all functions may be affected • When you lose myelin the rate of action potentials is going to slow • Increases temp can causes action potential conduction to slow even more • Can affect sensory, motor, cognitive, etc.

What functions are affected by MS?

• Depression is a component with the neuronal changes of the disease • Tremor • Bradykinesia (slowness of movement) • Akinesia (lack of facial expression) • Loss of associated movements • rigidity- increased muscle tone • shuffling gait

What functions are affected by parkinsons?

- abnormal structure of heart - strabismus (2 eyes don't work together) - short stature - obesity - short life expectancy

What functions are affected with down syndrome?

NOT known (possibly genetic)

What is the cause of ALS?

• Familial, early onset, genetic • Exactly what is going on with the genetic contribution, is unclear • Genetic contribution: apolipoprotein

What is the cause of Alzheimers?

repeated blows to the head / concussions / exposure to blast wave energy

What is the cause of CTE?

- genetic, hereditary, single gene mutation - Mutation is a single gene for an enzyme necessary for myelin formation - Myelination is not complete at birth in all humans but in children with this disease it struggles to develop

What is the cause of Krabbe disease?

• Infectious component there is an uneven geographic distribution which suggests there can be an infectious or environmental - The farther you go away from the equator the more MS you see - Could possibly be contributed to lack of Vitamin D / sun disorder however we currently have no solid date to support this theory • Genetic component can't exactly identify a gene that causes it

What is the cause of MS?

Trisomy 21 (extra copy of chromosome 21)

What is the cause of down syndrome?

not a single cause • One cause is the flu: post-infectious • Genetic contribution particular sets of genes may increase or decrease your susceptibility • Environmental toxins/ triggers

What is the cause of parkinsons?

• For some the cause is unknown • Brain structural differences or specific gene mutations • Injury (both open and closed head injury) scar tissue can cause local abnormal transmission among neurons, a seizure focus • Brain tumors can occur across the entire life span • May occur with multiple sclerosis (which is scar tissue resulting in a seizure focus) • Disruption of the normal way in which neurons communicate with each other

What is the cause of seizure disorders?

still working on effective treatments and cures • Attempt to develop a cure is targeted at replacing the enzyme • One disease is established it CANNOT be cured or reversed • Cord blood transplants are a recent treatment must be done very early

What is the cure / treatment of Krabbe disease?

rare

What is the frequency of ALS in the population?

common

What is the frequency of Alzheimers in the population?

unknown

What is the frequency of Chronic traumatic encephalopathy?

VERY rare

What is the frequency of Krabbe disease in the population?

quite common

What is the frequency of Parkinsons in the population?

It is semi common

What is the frequency of down syndrome in the population?

semi common (less common than seizures)

What is the frequency of multiple sclerosis in the population?

very common

What is the frequency of seizure disorders in the population?

- There is NO cure There is only supportive care and therapy to supplement lost motor functions and speech therapy - Not much in the way of medical treatments

What is the treatment / cure for ALS?

• There is NO cure or prevention • Various treatments have been tried • Much support for caregivers needed

What is the treatment / cure for Alzheimers?

• Drugs AED's (anti-epileptic drugs) - Medical marijuana just got approved - New drugs are being developed all the time • Ketogenic diet tightly controlled diet that consist of mainly fats • Vagal nerve stimulator implementation of a pace maker - Delivers electrical stimulation to the brain via the Vagus (tenth cranial) nerve • Brain surgery removal of a seizure focus - Remove seizure focus; in children sometimes an entire hemisphere may be removed - Cut the corpus callosum to prevent activity spreading from one hemisphere to the other

What is the treatment/ cure for seizure disorders?

- NO cure - Treatments can slow the progression of the disease • Found the interferon "Avonex" slow the progress of MS • ADL (activities of daily living) transfer, helping move, cooking cleaning, bathing, feeding etc. • Social consequence of the disease

What is the treatment/ cure of MS?

motor system and smaller cerebral cortex

What part of the CNS is affected by down syndrome?

Mutation is a single gene for an enzyme necessary for myelin formation

What part of the CNS is affected in Krabbe disease?

e

Which of the following changes could be caused by excess glucocorticoids? 1. Ruptured elastic fibers in the skin, causing purple striae 2. Hyperglycemia caused by insulin antagonism 3. Weakened protein matric of bone causing osteoporosis 4. Truncal obesity and thinning of the upper and lower extremities a. Only 1, 2 and 3 are correct b, Only 1 and 3 are correct c. Only 2 and 4 are correct d. Only 4 is correct e. All are correct

d

Which of the following describes corticotropin releasing hormone? a. Is secreted by the corticotropin-releasing center in the anterior pituitary b. Inhibits the release of ACTH from the anterior pituitary c. Directly acts on the adrenal gland to initiate the secretion of cortisol d. High plasma cortisol levels exert a negative feedback on CRH release (in the normal state)

b

Which of the following is essential for the production of thyroxine A. sodium B. Iodide C. Iron D. Potassium

b

Which of the following is essential for the production of thyroxine A. sodium B. Iodide c. Iron D. Potassium

b

Which one of the following is a hormone synthesized in cells located in the anterior pituitary? a. Corticotropin releasing hormone (CRH) b. Lutenizing hormone (LH) c. Oxytocin d. Thyroid releasing hormone e. Vasopression (ADH)

Conn's syndrome

a disorder of the adrenal glands due to excessive production of aldosterone

hyperparathyroidism

abnormally high secretion of parathyroid hormone

Hashimoto's disease

an autoimmune disease in which the body's own antibodies attack and destroy the cells of the thyroid gland

nodular thyroid disease

autonomously functioning follicular cells

Craniopharygioma

brain tumor arising from pituitary gland • Symptoms: delayed growth in children, delayed puberty, reduced sex drive, constipation, nausea, frequent urination, excessive thirst, dry skin • Treatment: surgery or radiation

2. Acromegaly

excessive amounts of growth hormone • Rare, typically caused by noncancerous tumor in the pituitary gland and high amount of GH • Symptoms soft tissue changes, hypertension, diabetes • Treatments surgery, radiation, medication • Occurs in adults

gigantism

excessive amounts of growth hormone • Similar to acromegaly but occur in children • Change occurs due to long bones long bones take a while to fuse therefore they keep growing

adosteronism

excessive production of aldosterone

Non-toxic Goiters

generally no symptoms but cosmetic appearance enlarged gland with or without nodules- Really caused by too much TSH 1. Incidence: more common in women than men; 20-60 years of age 2. Cause: iodine deficiency or chemical defect which causes impaired secretion of thyroxine 3. Treatment: biopsy, suppression of TSH with thyroxine, and iodide supplementation

cushing's disease

hypersecretion of pituitary adrenocorticotropic hormone (ATCH)

Neurogenic Diabetes Insipidus

inability of hypothalamic neurons to synthesize or secrete ADH 1. Symptoms: thirst, polydipsia or polyuria 2. Thus, prevents the accurate reabsorption of water in critical situations

Nephrogenic Diabetes Insipidus

inability of the nephron to respond to ADH 1. Symptoms: thirst, polydipsia, or polyuria 2. Thus, prevents the accurate reabsorption of water in critical situations

thyroiditis

inflammation of the thyroid (damage to gland can release hormone)

iron deficiency

iodide is a trace element that is a crucial component of thyroid hormone structure, lack of it causes enlargement (goiter) 1. Goiter can be caused by lack of iodide (causing lack of thyroxine) or by an excessive amount of TSH secretion • The anterior pituitary releases TSH to stimulate the production of thyroxine • An increase in size (goiter) is ineffective since the thyroxine level is low due to iodine shortage • Goiter is prevented by supplementing iodine in salt

Myxedema

is hypothyroidism in adults; thyroid hormone restores normal function • Sign is edema around eyes

hypopitutarism

lack/ low number of hormones coming from the pituitary gland (Panhypopituitarism ALL hormones are absent from gland) 1. Cause: • pituitary tumors • vascular thrombosis leading to necrosis of the gland • idiopathic or autoimmune disease 2. Symptoms vary • Child inhibition of growth, pituitary dwarfism, lack of secondary sex characteristics, mental impairment • Adult hypogonadism, hypothyroidism, and adrenal insufficiency

Hypoparathyroidism

low amount of parathyroid hormone • Cause damage to the parathyroid glands (either from surgery or hypomagnesemia (alcoholic, malnutrition, malabsorption) • Decreased serum calcium, increase serum phosphate • Effects: tetany (cramping, muscle spasms) , muscle spasms, hyperreflexia, clonic-tonic convulsions, laryngeal spasms

tonic-clonic generalized seizure

o Loss of postural control and consciousness o Increased muscle tone and body rigidity o Back and forth movement of all parts of the body o Duration can vary from seconds to minutes

risk factors of diabetes

obesity, inactivity, genetics, hypertension, elevated cholesterol, aging, metabolic syndrome (hypercholesterolemia, hypertriglyceridemia, and hypertension)

Cretinism

occurs in individuals who have suffered from low thyroid function since birth • They are short and stocky and have had hypothyroidism since infancy • Thyroid treatment helps by unless begun in 1st two months, mental retardation occurs

Partial complex seizures

occurs in the temporal lobe and involves complicated / normal looking movements like lip-smacking or picking at clothing. o Patients are not fully conscious and may not remember the seizure o There is NO loss in postural control they do not fall o For some there is not warning and seizures occur unpredictably

grave's disease

occurs when thyroid gland is enlarged or overactive • The eyes protrude because of edema in eye socket • Removal or destruction of some thyroid tissue by surgery or radiation often cures it

thyrotoxicosis

over production and release of hormone 1. Treatment: (Easier to treat than hypothyroidism) antithyroid drugs and surgical excision of abnormal tissue 2. Symptoms: sweating, rash, tachycardia (Inc HR), decreased vital capacity, inc respiration rate, inc appetite, inc bowl movements, nervousness, hyperactivity, weakness, fatigue, osteoporosis, menstrual irregularity, decreased fertility, inc gonad hormone production

Thyroid storm

rare but dangerous worsening of thyrotoxic state caused by stress, insects etc.

prolactinoma

secrete excessive amounts of prolactin • Accounts for 40% or pituitary tumors • Symptoms: milk discharge, menstrual cycle changes, headaches, visual disturbances, reduced sex drive, osteoporosis, infertility • Treatment Drug therapy

TSH secreting tumors

secretes too mush TSH

feminization

taking on feminine secondary sex characteristics / hypersecretion of estrogens

Virilization

taking on male secondary sex characteristics • Hirsutism - excessive hair growth in females

Pheochromocytoma

tumor of the adrenal medulla that secretes catecholamines (epinephrine and norepinephrine)

Pheochromocytoma

tumor of the adrenal medulla that secretes catecholamines (epinephrine and norepinephrine) - Stimulates the sympathetic immune system (increase in BP, stimulates heart, increases blood volume) - Continuously increasing amount of catecholamines 1. Causes secondary hypertension 2. Is VERY RARE 3. Clinical manifestations --? Chronic catecholamines, persistent hypertension associated with headaches, diaphoresis (sweating), tachycardia, palpitation 4. Treatment surgical excision

Hypothyroidism

underactive thyroid 1. Treatment: replacement therapy and radioactive iodine (targets thyroid gland because it concentrates iodine / destroys tissue of gland which can help with a tumor) 2. Symptoms: cold intolerance, pale, dropping lids, puffy tongue, bradycardia (dec HR), hypoventilation, CO2 retention, dec appetite, constipation, stiffness, fatigue, oliguria, infertility, hypogonadism

Iatrogenic Cushing's syndrome

usually related to prolonged and or high dose oral or parenteral steroid use

partial simple seizures

very restricted abnormal electrical activity in the cerebral cortex which results in an involuntary movement or sensory experience with NO loss of consciousness o Can occur in any subdivision in the cortex o Figures out there had to be a map of the body in the cortex due to seizures

Non-functioning adenoma

• Symptoms visual field disturbances, most commonly loss of peripheral vision, headaches • Treatment surgery and hormone replacement

Thyroid stimulating hormone (TSH) secreting tumors

• Symptoms: heart palpitations, fast HB, irregular menstrual cycle, headaches, visual disturbances, difficulty sleeping, inability to tolerate heat, weight loss, fatigue •Treatment - microsurgery to remove the tumor, radiation, medication treatment