For AUgusto 8

6 carbon glucose

hexose

tumor angiogenesis

Vascular Endothelial growth factor- VEGFR

fibroblasts

what is labeled here

Ketoses

* Carbohydrates with a ketone group *Keto group: C=O in b/w 2 carbons typically in the middle of the chain

Classical Galactosemia

* Symptoms: *Failure to thrive, {{jaundice}}, hepatomegaly, {{infantile cataracts}}, mental retardation.* Lab Values: ** Pathophysiology: *Autosomal recessive. {{Defect in galactose-1-phosphate uridyltransferase}}. Damage caused by accumulation of galactitol which accumulates in the eye of the lens.* Treatment: *Exclude galactose and lactose from diet.

Dense connective tissue surrounding entire muscle

Muscle biopsy revealed inflammatory infiltrates in the epimysium. Which of the following best describes the epimysium?

Benzo(a)pyrene

Mutagen found in charred food and cigarette tar

-Infertile phenotypic female with ovaries -Infertile since 2 X chromosomes required for oocyte maintenance

46,XY SRY- loss of function

bacterial artificial chromosome (BAC)

A large plasmid that acts as a bacterial chromosome and can carry inserts of 100,000 to 300,000 base pairs.

squamous cell carcinomas of the cervix sexually transmitted High risk types incorporate into the genome

Importance of High-risk HPVs types 16 and 18, 31, 33

only from one of the paternal or maternal alleles

Imprinted alleles are expressed

reciprocal translocation

Philadelphia chromosome

Chronic Myeloid Leukemia

Philadelphia chromosome, increased immature white cells

Glycerol

Phosphatidylethanolamine, phosphatidylserine and phosphatidylcholine are similar phospholipids. What links the phospho-head group of each of these to the two fatty acid tails?

Exportin

Picks up cargo when it binds Ran-GTP

1) lung 2) prostate 3) colorectal

Most common causes of cancer death in American males highest to lowest

Miosis and vision fixed for near

Pilocarpine was used for the treatment of dry mouth and dry eyes. Which of the following effects could be produced by this drug in the eye?

phosphoenolpyruvate

RBC's immediate donor of phosphoryl group to ADP

MEN2A and MEN2B, familial medullary thyroid carcinoma

RET receptor

achilles tendon

S1- level

marker for neural cells melanocytes, fat cells, chondrocytes, macrophages

S100

Number needed to treat (NNT)

The number of patients who must receive a particular drug or treatment in order for one to benefit.

Disulfiram

Used in tx of alcohol cessation. Inhibits acetaldehyde dehydrogenase-->increased acetaldehyde when drinking (toxic)-->N/V-->incentive not to drink

Microfilaments are thinner, dynamic and made from F-actin

What are simple ways to distinguish between an intermediate filament and a microfilament?

DNA-dependent RNA polymerase

What class of polymerase is a primase?

Nerve 1- Look for the one that is thickest diameter and myelinated

What combination of axon myelination and nerve fiber diameter would produce the fastest nerve conduction speed?​

Glucokinase would have low activity with drunk brought into ER

What glycolytic enzyme has a high Vmax, high Km, and low affinity for glucose?

axons

What structure would be found in the area indicated by the arrow

Right

Which kidney contains 2 simple cysts on CT scan?

Neurons have only one axon. Dendrites can branch out. Axons can branch out. Axons are thinner than dendrites

Which of the following statements regarding neuronal morphology is TRUE

attenuate means to make smaller

attenuate

Marfan Syndrome

autosomal dominant; pleiotropic; tall, weak heart

fatty acids fasting = burning the fatty

chief source of energy during fasting

variable expressivity

different family members having different severity of presentation

Ionotropic

direct effect on ion flow, effects fast and brief • Ions flow through the receptor • Most fast receptors are of this type

Zellweger syndrome

dysphagia prominent forehead hypertelorism- inc distance between body parts lack of plasmologen

Scrotal cancer squamous cell

how are TAR and Soot toxic Chimney sweep

dense regular connective tissue

tendons and ligaments are

Right and left coronary arteries

the ascending aorta branches following arteries:

Late-look Bias Solution: Randomization; stratify by disease severity.

those with more severe sickness are least likely to be included in the study; harder to access or more likely to be deceased; sample biased to less sick cases.

simple columnar epithelium

tissue type

aerobic glycolysis aka warburg effect

what is upregulated to promote tumor proliferation and spread

When ethanol levels are high, the microsomal ethanol-oxidizing system MEOS consisting of CYP2E1, is induced.

what system is induced when ethanol levels are high

PCR

which technique is preferred for measuring the size of the trinucleotide repeat sequence- Spinocerebellar Ataxia:

Changes in cell shape & cytokinesis Wound healing Organelle & vesicular transport Phagocytosis

Which of these is something that the cytoskeleton is directly involved with?

Diffusion of aspirin (N-acetylsalicylic acid) across the plasma membrane

Which of these is something that the cytoskeleton is not directly involved with?

Glycogen phosphorylase is an enzyme that can be activated by phosphorylation of serine residues.

Which one of following statements about glycogen metabolism is correct?

Basophilic cytoplasm

Since the cancerous cells are highly secretory, which of the following features would you most likely observe in the affected cells?

Clearance of a drug

required in calculation of maintenance dose

3 years

ride tricycle use full sentence knows age and gender good bladder control

pharmacodynamic tolerance

changes in nerve cell function compensate for continued presence of the drug

polyploidy ex -triploidy- three full copies of all chromososmes ex- tetraploidy- 4 full copies of all chromosomes

changes in the number of complete sets of chromosomes

Aneuploidy ex- monosomy, turners ex- trisomy downs syndrome ex-tetrasomy aka 4 copies of a single chromosome

changes in the number of one or more chromosomes

Marker for neuroendocrine tumors including small cell carcinoma of the lung

synaptophysin

lysosomal mucopolysaccharidosis

defective degradation of sulfated polysaccharides or GAGS chrondroitin sulfate dermatan sulfate Heparan sulfate Keratan sulfate

ARSA gene

defective gene in metachromatic leukodystrophy patients that causes brain/spinal cord degradation

problem with compressive forces

defects in proteoglycan

Classical Galactosemia

deficiency of galactose 1-phosphate uridyltransferase (GALT), galactoase 1-P = phosphate trapping & galactitol accumulation = liver damage, mental retardation, cataracts

Hunter Syndrome (MPS II)

deficiency of iduronate 2 sulphatase X-linked -milder than Hurler -accumulation of heparan sulfate -no corneal clouding

gluconeogenesis and acetyl coa

deficient pyruvate carboxylase activity can be helped by

smoking and alcohol are risk factors

esophageal lesion true of squamous cell carcinoma

I2= measure of heterogeneity; if < 50% less heterogeneity means that heterogeneity is low

if heterogeneity is less than 50 % what does this mean

liver failure

if you continue to consume fructose with hereditary fructose intolerance

lysosomes

if you see M6P this means protein is going to

respiratory acidosis

if you see increased pCO2 think

PFK1 would be affected , normally high citrate would allosterically inhibit PFK1

impaired citrate transport into the cytosol

** CD8 cytotoxic T-cells are immune cell that helps protect us from viral induced malignancies

importance of CD8 cells and viral inducedmalignancies

In polyglutamine diseases- Inclusions are protective- neurons with inclusions survive Vulnerable neurons do not have inclusions

importance of insoluble aggregates and inclusions

mode < median < mean

in a positively skewed distribution,

nonsense mediated decay usually null

in eukaryotes frameshifts usually result in

PEP carboxykinase

in gluconeogenesis, converts oxaloacetate to PEP.

5-methycytosine

in humans, found only in CpG dinucleotides

The right testicular vein drains into the right balls into the vena cava

inferior vena cava

Aldolase B deficiency

leads to fructose intolerance with accumulation of toxic metabolite fructose-1-P. Patients have hypoglycemia when fructose or sucrose is consumed F-1-P takes up phosphates and gluconeogenesis can't work

-Subunit porin for a gap junction complex -Fibronectin receptor for adhesion to the ECM -ATP-dependent calcium ion pump -Subunit of the insulin receptor

likely roles for an integral plasma membrane protein?

Liquefactive necrosis is a type of necrosis where the tissue becomes liquefied and is the type associated with brain infarction. The tissue is liquefied by the release of enzymes from damaged brain cells.

liquefactive necrosis

Lipodystrophy

medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue

Chronic granulomatous disease

X-linked mutation affecting NADPH oxidase causing dtysfunctioning neutrophils and oxidative burst

Chronic granulomatous disease

X-linked mutation affecting NADPH oxidase causing dysfunction neutrophils and oxidative burst

Hemophilia mode of inheritance

X-linked recessive

Hunter syndrome

X-linked recessive

•FRAXA is the fragile site that occurs on the X Chromosome associated with Fragile X Syndrome

•Observed as a discontinuity of staining •Only at CGG repeats due to hypermethylation •Chromosome is not broken

alpha-ketoglutarate to succinyl CoA reaction

what is impaired in alcohol intoxication patient

Polycyclic aromatic hydrocarbons, originally derived from coal tar, are among the most extensively studied carcinogens. These compounds produce cancers at the site of application. Since polycyclic hydrocarbons have been identified in cigarette smoke, it has been suggested (but not proved) that they are involved in the pathogenesis of lung cancer.

what type of cancer are polycyclic aromatic hydrocarbons involved in ?

liver glucose output will be reduced early during fasting

what would a drug that is an inhibitor of liver glycogen phosphorylase do, and how would this make hypoglycemia for type II diabetic

pyruvate carboxylase

when acetyl coA accumulates in the liver it allosterically activates gluconeogenesis through

pyruvate dehydrogenase

when acetyl coA accumulates in the liver it inhibits the decarboxylation of pyruvate via

1) aorta above umbilicus 2) renal artery both sides R/L upper quadrant above umbilicus 3) Iliac artery both sides R/L below umbilicus

where should you listen for bruits during auscultation portion of abdominal exam

Length-Time Bias

-Due to slow cases being detected more often simply because they are slowly progressing -Screening over-represents less aggressive disease -This leads to overestimation of survival duration due to the seeming excess of detected cases that are progressing more slowly.

I-cell disease

-coarse facial features -deficiency of GlcNAc phosphotransferase -phosphorylation to mannose 6 phospate is defective

midbrain, pons, medulla oblongata

3 parts of the brain stem

-Smaller SEMs means samples are all similar and represent true population mean -Indicates what outcomes to expect if you repeat the experiment using a different sample from the larger population -Is a measure of how much the different sample means differ from each

3 things are true of the standard error of the mean?

Oligosaccharides

3-10 monosaccharides

Neostigmine

54-year-old patient undergoes intra-abdominal surgery for appendicitis. During his post-operative recovery, he develops constipation and abdominal discomfort due to a paralytic ileus (paralysis of the bowel) that can result from surgical manipulation of the intestines. From the list of options below, which would best treat his condition?

Nerst Equation

60 times log Conc out/ Conc In

MAP kinase -•Ras protein -> Raf -> Mec -> MAP kinase -> cell devision and proliferation

60-year-old male presents to his family physician because of complaints of blood in his stool and intermittent constipation. Fecal occult blood testing is positive. A colonoscopy is performed, revealing a large adenocarcinoma of the sigmoid colon. As the tumor was removed at a teaching hospital, a researcher tests the tumor and identifies a gain-of-function mutation of ras. What intracellular molecule will be constantly activated because of this mutation?

Metastasis from an aggressive tumor subclone (Although neoplasms begin as monoclonal prolifertions, additional mutations occur over time, leading to suclones of neoplastic cells with various aggressive properties. This subcloning may allow metastases, greater invasiveness, resistance to chemotherapy, and morphologic differences to occur. Because sarcomas of the lung are rare, the lung mass is statistically a metastasis. Though second primary malignacies do arise, particularly in persons who have already had a malignancy, the odds favor a metastasis in a person with a prior malignancy. Sarcomas are not related to smoking tobacco. Inheritance of a mutant RB gene is most likely to lead to childhood retinoblastomas and osteosarcomas. Kaposi sarcoma is the sarcoma most often associated with AIDS from HIV infection)

61-year-old woman has noted a feeling of pelvic heaviness for the past 6 months. On physical examination, there is a palpable nontender lower abdominal mass. An abdominal ultrasound scan shows a 12-cm solid mass in the uterine wall. A total abdominal hysterectomy is performed. The mass has the microscopic appearance of a well-differentiated leiomyosarcoma. One year later, a chest radiograph shows a 4-cm nodule in her right lower lung. Cytologic analysis of a fine-needle biopsy specimen of the nodule shows a poorly differentiated sarcoma. The patient's medical history indicates that she has smoked cigarettes most of her adult life. Which of the following mechanisms best explains these findings?

Myotonic Dystrophy DM1 RNA gain of function

67-year-old Male competitive bowler •Cardiac arrhythmias •Beginning Cataract •Throaty speech •Long, narrow face •Baldness •Wasting of temporalis •Ptosis

The maintanance dose rate (iv) = ____ =____

= elimination rate = clearance*[drug]

Uniparental isodisomy

A 2 year-old girl has just been diagnosed with cystic fibrosis. DNA testing shows her mother to be heterozygous for the p.G542X mutation, her father has no detectable mutation and the girl appears to be homozygous for p.G542X. Further testing identifies alleles from her father at CA-repeat markers spread across multiple autosomes but not chromosome 7. This is an example of:

Simple squamous

A 31-year old male presents to the emergency department complaining of a sharp piercing chest pain that has gradually worsened in the last 24 hours. Blood work along with radiological imaging reveal the patient is suffering from pericarditis, an inflammation of the capsule that surrounds the heart. The serous pericardium of the heart consists of a layer of serous mesothelium, how would you classify this specialized type of epithelium?

Neostigmine

A 54-year-old man complained of muscle weakness that worsened with activity and improved on rest. It was diagnosed as myasthenia gravis. From the list of options below, which of the following would best to treat his condition?

Neostigmine New stigma for myo gravis

A 54-year-old man complained of muscle weakness that worsened with activity and improved on rest. It was diagnosed as myasthenia gravis. From the list of options below, which of the following would best to treat his condition?

Timolol

A 54-year-old woman is diagnosed with open angle glaucoma for which she is prescribed a drug to be applied as drops to the conjunctiva each day. After several months of treatment, it is apparent that the intraocular pressure was well controlled by this medication which acts by decreasing cAMP. Which of the following drugs is most likely used for this condition?

Beta and alpha blocker carvediol blocks and carves them all/ both alpha and beta

A 60-yr-old man with hypertension and cardiac failure was administered carvedilol. The therapeutic effect of the carvedilol is due to

Colon (Multiple lesions in the liver suggest cancer metastasis to the liver rather than a primary liver cancer. The most likely sources for liver metastases are primary gastrointestinal tumors because blood vessels in the gastrointestinal tract drain directly into the hepatic circulation)

A 62-year-old man visits his physician because of 5 months of fatigue, loss of appetite and 10-kg unintentional weight loss. Physical examination reveals tachycardia, mucosal pallor with icterus and hepatomegaly. Test for fecal occult blood is positive. Ultrasound reveals multiple liver lesions measuring 2 to 3 cm × 3 to 4 cm. Which of the following is the most likely location of the primary tumor?

Origin of Replication

A DNA sequence where replication can initiate

30 nm fiber (Solenoid)

A coil of nucleosomes with 6 nucleosomes per rotation

relax the constrictor muscle

A college student visits her ophthalmologist because she has been having difficulty reading lecture slides during class. To begin the eye exam, the ophthalmologist dilates her pupils by applying eye drops that contain a drug that will do which of the following?

Decrease in ECF volume

A concurrent decrease in parasympathetic and increase in sympathetic outflow to the heart would be in response to which of the following?

Restoration of 2N, 2C

A couple comes into the clinic with complaints that they cannot get pregnant. Which of the following is most likely about the normal process of fertilization?

Phenylketonuria - PKU for poland

A couple has recently migrated from a rural village in Poland. They have a six- year-old child with intellectual disability, microcephaly, decreased skin and hair pigmentation and a musty odor to the urine. The family history is negative. Which of the following is the most likely diagnosis for the child?

Turner Syndrome (45, X)

A genetic condition in human females caused by a 45, X genotype. Such individuals are phenotypically female but are sterile.

Puts on simple clothes.

A girl is observed at play at a local day-care center. She interacts with other children, but watches their activities intently. When given a set of blocks, she stacks them to build a tower of nine cubes. When asked to introduce herself to a visitor, she shyly states, "My name is Kayla." Later, she refuses to be taken to the restroom by a male instructor, instating that the female instructor accompany her. Based on this description, what additional developmental milestone would this girl most likely achieve during the current year?

Methylation

A histone modification that has variable effects

Acetylation

A histone modification that is consistently activating

Bacterial Artificial Chromosome

A large closed-circular vector capable of carrying relatively large payloads

46,XY,dup(7)(q11.23)

A male with a duplication on the q arm of chromosome 7 of region 11.23 (7q11 duplication syndrome)

46,XY,t(9,22)(q34,q11)

A male with a reciprocal translocation between chromosomes 9, with a breakpoint at q34, and chromosome 22 with a breakpoint at q11 a Philadelphia Chromosome

45, XY, -6

A male with monosomy for chromosome 6 prenatal lethal

Conservative missense

A mutation that changes a codon encoding an amino acid into a codon encoding a different amino acid with similar properties

Partial loss of function

A mutation that decreases activity of the gene product but doesn't completely eliminate it

Gain of function

A mutation that increases the activity of the product:

Somatic mutation

A mutation that occurs in any tissue outside of the germline

Pathologic Mutation

A mutation that results in a disease

Dominant negative

A mutation that results in a mutant protein that interferes with the wild-type protein

Null mutation Complete loss of function

A mutation that results in no functional product

blocks β-1 receptors in the SA node

A nonselective beta blocker has a negative chronotropic effect on the heart because of which of the following?

Publication bias is likely

A p-value that accompanies an Egger statistic that is less than .05 indicates that:

Heterogeneity is low, and we have greater confidence in the results of the meta-analysis

A p-value that accompanies an I squared that is greater than .05 indicates that

Region C- light area

A pathology resident attempting to determine the level of transcription in the cells obtained a biopsy and prepared a TEM of a cell's nucleus. Which of the following labelled regions most likely contains actively transcribing DNA?

Dorsal posterior roots

A patient is suffering from intractable abdominal pain due to a large, malignant tumor. The pain persists despite the removal of the tumor. A pain management physician suggests nerve transection be performed as a treatment for pain relief. What structures would be cut during this procedure?

Inhibiting cholinergic activity​

A patient who is being treated with a medication complains of the adverse effect of difficulty adjusting his eyes to bright lights. How is the medication modifying autonomic function?

Ethmoid

A patient with a difficulty breathing through the nose undergoes physical examination. The doctor revealed a polyp growing into the right middle nasal meatus. The overlying middle nasal concha belongs to which of the following bones?

Superior vena cava Red arrow

A radiologist examines anterior-posterior (AP) chest radiographs of a car accident. Which of the following structures does contribute to the right border of the cardiovascular silhouette?

Attrition Bias

A randomized controlled trial of 200 people is published and finds drinking eight ounces of cod liver oil and ground sardines improved athletic performance compared to drinking water . You see only 32 people in the intervention arm completed the study, while all 100 in the control group arm completed the study. What type of bias is likely present?

Phase 3

A randomized-controlled trial of 340 patients examined the effect of a combination carfilzomib-lenalidomide-dexamethasone on multiple myeloma. Patients were randomized to receive carfilzomib-lenalidomide-dexamethasone (Study arm A) or lenalidomide-dexamethasone (Study arm B). Drug safety, efficacy, and dosage were already established in previous trials. What phase of a clinical trial is this study?

xeroderma pigmentosum caused by inborn defect of DNA repair lack of ability to repair pyrimidine dimers

A rare inherited disorder marked by an extreme sensitivity to ultraviolet light, such as from the sun, and a high risk of developing cancer. The signs and symptoms of xeroderma pigmentosum are usually seen in children by age 2 years

Ideogram

A schematic illustration of chromosomes

5'-GTAATCC-3'

A segment of a DNA strand contains the sequence 5'-GGATTAC-3'. What is the corresponding sequence of the complementary strand?

10 nm fiber (Beads-on-a-string)

A series of nucleosomes assembled on a 2nm DNA strand

Hemidesmosomes

A series of unexplained blisters and scars that often become infected. He is diagnosed with bullous pemphigoid, a genetic skin condition that results from inadequate adhesion of epidermal epithelial cells to their underlying structures. Abnormalities in which of the following structures would most likely be associated with bullous pemphigoid?

Patients who received the drug might be less healthy than those who did not

A study is conducted to determine the efficacy of a new drug in preventing hospitalization of patients because of chronic COPD. Medical records from participating physicians are used to select one group of patients who received the drug in the year before the observation period (Group X), and the second group of patients who received the placebo in the preceding year (Group Y). Both groups are followed over four years to determine the number of hospitalizations and number of all-cause deaths. The number of hospitalizations for Group X was lower (p <.001) than for Group Y. However, the all-cause mortality rate was found to be higher in Group X (p < .01) than for Group Y. Based on these results, the researchers conclude that the drug should not be used. This conclusion is most likely invalid because of which of the following scenarios?

G-banding

A technique for staining metaphase chromosomes so they appear with alternating light and dark bands

Above the oblique fissure of the left lung

A tumor is found pressing on the superior lingual bronchopulmonary segment of the lung. To localize this lobe, the surgeon should look for which area of the lung?

Viral Vector

A vector capable of carrying intermediate sized payloads. Requires 'packaging' in a host cell line

colon cancer

APC is associated with

Oligomycin

ATP synthase inhibitor

Variable

ATP-Dependent Chromatin Remodeling Factors

NADH

Accumulation of what molecule directly inhibits the regulatory enzymes of the TCA cycle

How closely your result reflects the truth Sensitivity & specificity are measures of accuracy/validity

Accuracy aka Validity

Pyruvate carboxylase

Acetyl-CoA enhances the rate of gluconeogenesis by acting as an obligate activator of which of the following enzymes?

Activating

Acetylated Histones:

Ionotropic

Acetylcholine activates cholinergic nicotinic receptors at the neuromuscular junction to depolarize skeletal muscles, causing sodium to enter the muscle cells. Acetylcholine receptors at these sites are:

Spatial summation

Activation of a single excitatory input to a motoneuron causes a subthreshold excitatory postsynaptic potential (EPSP). However, simultaneous activation of five excitatory inputs to the same motoneuron produces a suprathreshold EPSP. The change in effectiveness of the EPSP is due to which of the following?

O6-Methylguanine

Alkylation of Guanine, base pairs with Thymine instead of Cytosine

Cell wall

An antibiotic is being developed to treat a bacterial infection. The drug is being designed to interfere with the synthesis of a cell component. Which of the following would be the most effective cellular target?

liquefactive necrosis

An autopsy of a 69-year-old man with a history of atherosclerosis reveals infarction of brain parenchyma perfused by the middle cerebral artery. Which type of necrosis is most often associated with his cause of death?

The mutated gene is maternally imprinted

An autosomal dominant disease has a parent-of-origin dependent inheritance. The disease only manifests if the disease-causing mutation is inherited from the father. This can be explained because...

The mutated gene is maternally imprinted The mutated gene is paternally expressed

An autosomal dominant disease has a parent-of-origin specific inheritance pattern. It only manifests in individuals when the disease-causing mutation is inherited from a father. What is the explanation for this?

Secretory vesicles and mitochondria.

An axon terminal is characterized by:

Nondisjunction

Aneuploidy is most often caused by...

Galantamine effects

Anticholinesterse - increases ACh -Alzheimer disease

Extracellular fluid osmolarity increases Extracellular fluid sodium concentration increases

Antidiuretic hormone (ADH) regulates water retention by acting to increase water reabsorption in the kidneys. If the ADH receptors are antagonized, what effect will this have on extracellular fluid osmolarity and extracellular fluid Na+ concentration?​

Bias

Any systematic error in the design, conduct, or analysis of a study that results in a mistaken estimate of an exposure's effect on the risk of disease is called ________.

Maternal UBE3A gene mutation

Approximately 70% of cases of Angelman syndrome are caused by a deletion on chromosome 15. The remaining cases are caused by other chromosomal abnormalities or mutations. Of the following, which would most likely result in Angelman syndrome?

Hybridization

Association of a strand of DNA with a new complementary strand:

Renaturation

Association of a strand of DNA with its original complementary strand

The amplitude would decrease

At a cholinergic synapse, what would be the effect on the postsynaptic potential generated by stimulating the presynaptic cell with a drug that partially blocked the transport of acetylcholine into synaptic vesicles?

4, 9

At birth, a female infant has blue skin color, heart rate of 95, has weak reflexes and weak muscle tone, and has very shallow breathing. She is administered oxygen and rushed to the NICU. A few minutes later, her skin color is pink, heart rate has increased to 115, she has weak reflexes, muscle tone shows resistance, and she is crying. Which of the following are the correct APGAR scores for these two evaluations?

Between 1.0 and 2.0​

At low concentrations, sodium chloride (NaCl) is a salt that completely dissociates in water. However, at very high concentrations some Na+ and Cl− ions will reassociate into NaCl. If a 1.0M solution of NaCl represents a very high NaCl concentration, what will the osmolarity (in osmoles/L) of this solution be?​​

L1 - L2

At what level does the spinal cord end in adults?

Spinal cord segment

At which level of the CNS does the deep tendon reflex work?

β1-adrenoceptor antagonist

Atenolol

Treatment of organophosphate poisoning

Atropine pralidoxime- only works if given quickly

True

Auscultation for abdominal vascular bruits should be done with the side of the stethoscope where you hear low frequency sounds the best.

bell for bruits

Auscultation for vascular bruits should be done with the bell. Listen for an aortic bruit in the epigastrium, in both upper quadrants for renal bruits and below the umbilicus on both sides for the iliac arteries.

Myotonic Dystrophy

Autosomal dominant CTG trinucleotide repeat UTR DMPK gene Frontal balding, testicular atrophy, muscle wasting (no fatty deposits) cardiac problems insulin resistance Anticipation cataract

thymine

Base deamination is one way in which DNA can be spontaneously damaged. One common source of mutations is the conversion of 5'-methyl-cytosine to _____________ by deamination.

Right hip flexed, left knee extended

Based on what can be viewed in the image, which of the following statements correctly describes some of the joint positions of the right lower limb when compared to the left lower limb of the patient on the exam table?

normal function inhibits apoptosis - increased Bcl-2 will prevent apoptosis example is follicular lymphoma, t14:18

Bcl-2

L3

Below which vertebral level the manipulations of the vertebral canal such as spinal puncture and epidural block are relatively harmless?

Glycosylphosphatidylinositol

Big anchor commonly found in lipid rafts (GPI) attaches proteins to PM (facing outside of cell)

Glucaronic acid

Bilirubin is conjugated to this in the liver, via the enzyme glucuronyl transferase

Co-repressor

Bind to a repressor protein to enhance its activity

Inducer

Bind to a repressor protein to inhibit its activity

Co-activator

Bind to an activator to enhance its activity

Repressor

Bind to an activator to inhibit its activity

Ran-GTP

Binds to importin protein and separates it from its cargo

Andersen disease (type IV glycogen storage disease)

Blood tests reveal that the infant has normal glucose levels. Biopsy of the liver reveals initial stages of cirrhosis due to the accumulation of an abnormal glycogen with few branch points whose structure resembles amylopectin. The clinical and laboratory results presented are indicative of which GSD?

Simple squamous

Blood work along with radiological imaging reveal the patient is suffering from pericarditis, an inflammation of the capsule that surrounds the heart. The serous pericardium of the heart consists of a layer of serous mesothelium, how would you classify this specialized type of epithelium?

squamous cell carcinoma pyrimidine dimers UV radiation b-raf associated with this can get worse with dimers

Cancer that begins in squamous cells. Squamous cells are thin, flat cells that look like fish scales, and are found in the tissue that forms the surface of the skin

spread via lymph- know the exception...firm in texture...desmoplasia which is connective tissue that's what makes it firm in texture, polygonal in shape

Carcinomas- how do they spread what is exception

Causality is strengthened by larger effect sizes, greater consistency, temporality, and a dose-response relationship between two variables

Causality is supported by...

RanGAP

Causes Ran protein to hydrolyze GTP to GDP

Exhibit slower transmission than myelinated fibers

Cell biologists investigating the functional significance of myelin sheaths isolate a nerve containing some unmyelinated axons. These axon fibers were less abundant than myelinated fibers and limited to mostly the autonomic nervous system. Which of the following best describes unmyelinated fibers?

High blood phenylalanine level in the pregnant mother results in high fetal phenylalanine level, which is teratogenic

Children born to mothers with poorly-controlled phenylketonuria often have microcephaly, intellectual disability, growth and developmental delay. Which of the following is the most likely explanation?

Bile salts

Cholesterol is required as a precursor for synthesis of which of the following compounds?

External iliac a. - common iliac a. - descending aorta - arch of aorta

Choose the correct order of vessels that catheter via femoral artery would pass on its way to the heart

1.Sympathetic visceral efferent 2.Parasympathetic visceral efferent organ ache

Choose the paths that the afferent visceral fibers may

Euchromatin

Chromatin structures from naked DNA 2 nm to the 30nm Fiber

Vimentin stain

Connective tissue Sarcoma tumor marker; mesenchyme

Graph B

Cyanide is a non-competitive inhibitor of cytochrome oxidase. Cyanide alters the line weaver burke plot by which of the following ways:

Plot B

Cyanide is a non-competitive inhibitor of cytochrome oxidase. Cyanide alters the line weaver burke plot by which of the following ways:

Epinephrine to α1-adrenergic receptors

Cyclic AMP-independent activation of glycogen breakdown in hepatocytes occurs as a result of which of the following signal transduction events

Epinephrine to α1-adrenergic receptors

Cyclic AMP-independent activation of glycogen breakdown in hepatocytes occurs as a result of which of the following signal transduction events:

5' to 3' polymerase

DNA polymerases typically have multiple activities, but their primary activity is synthesis of DNA. What is the name of the DNA synthesis activity?

uracil

Deamination of cytosine results in

Increased hepatic glycogen accumulation

Deficiencies in the enzyme glucose 6-phosphatase are likely to lead to which of the following?

Tarui disease

Deficiency in PFK-1 in Muscle and RBC, muscle cramping due to lack of ATP, hemolysis, rare

McArdle Disease-cause

Deficiency of skeletal muscle glycogen phosphorylase (myophosphatase)

Cori's disease

Deficit of a-1,6-glucosidase aka debranching enzyme

1) Deletion of 15q11-13 On the maternal chromosome 2) Paternal Uniparental Disomy (UPD) Nb. Both chromosomes are paternal 3) Imprinting Defect- Paternal imprinting on the maternal chromosome 4) loss-of-function of UBE3A aka mutation

Describe 4 mechanisms of Angelman Syndrome (AS)

1) Mydriasis- circular muscle dilation of pupil block M-3 receptor 2) tighten suspensory ligament/ flat thin lens/ vision fixed far 3) reduce lacrimal secretion - dry eyes

Describe Atropine ( anticholinergic) effects on eye

Mutator phenotype= genomic instability increase likelihood of all mutations

Describe DNA repair genes

•Occurs due to a balanced X-autosome translocation where the breakpoint is in the DMD gene •only cells which inactivate the normal X chromosome will survive •This inactivates the only functional copy of the DMD gene, so the female will be affected by Duchenne

Describe Female DMD due to X-Autosome Translocation

•As a disease is transmitted from generation to generation it increases in severity •Observed as: Increase in severity of clinical symptoms Decrease in the age of onset •Severity corelates with size of expanded repeat sequence

Describe Genetic Anticipation

This syndrome results from the ectopic secretion of ADH. It is characterized by excess water retention that produces oliguria and decreasing serum osmolality, increasing urine osmolality, and a decreasing serum sodium concentration (hyponatremia).

Describe SIADH

1)Inspects visually externally bilaterally 2) Palpates auricles bilaterally and palpation over the mastoid bone 3) Auditory acuity tested with correct technique- rustling fingers with patients eyes closed 4) Weber and Rinne tests to be performed 5)Otoscopic examination bilaterally Auricles pulled superiorly, posteriorly, and away from patient 6)Otoscopic examination performed without pain

Describe proper steps in ear examination

Growth promoting generally gain of function mutated allele is dominant over normal allele

Describe proto oncogenes

Angiogenesis is a key feature of neoplasms because the growing tumor needs a blood supply, and up-regulation of factors such as VEGF and FGF help to keep the cancer growing. VEGF may be up-regulated by activation of hypoxia-inducible factor 1-alpha HIF-1-alpha.

Describe role of angiogensis and growing tumor

after properly draping patient, stand on right side look for color, scars, striae, contours, jaundice Also- massses, enlarged organs, or bulging flanks

Describe visual inspection of abdomen

Emery-Dreifuss muscular dystrophy

Development of skeletal muscle contractures that precede the onset of skeletal muscle weakness (contractors in a humeroperoneal distribution)

GM2A no activator for a good morning too

Disease associated with Activator deficiency

Tay-Sachs disease Hex A for Tay GM2 gangliosdidosis Type I

Disease associated with mutations in HEX A

Sandhoff disease- GM2 gangliosidosis- Type !

Disease associated with mutations in Hex B

efflux of K+​

During regulatory volume increase, many cells will decrease which of the following?​

Paternal imprints

During spermatogenesis, if a maternal chromosome segregates into a spermatocyte, once the spermatocyte matures into a spermatozoa that chromosome will have

Paternal imprints

During spermatogenesis, if a maternal chromosome segregates into a spermatocyte, once the spermatocyte matures into a spermatozoa that chromosome will have:

Endoderm and visceral lateral plate mesoderm.

Embryologically the inner lining and outer wall of the alveoli consists of which of the following?

DICT connective tissue houses blood vessel and surrounds entire peripheral nerve

Epineurium

Activating

Euchromatin

Where are glycolipids found?

Facing outward from the outer leaflet of the plasma membrane

Prevalence will increase

How are prevalence and/or incidence most likely to change if treatment is discovered that prolongs life?

lysosomal mucopolysaccharidosis

Hunter and Hurler

1) Reduced ATP generation 2) Increased mitochondrial calcium 3) Cell Swelling 4) BAX/BAK activation

Hypoxic cell injury causes

Adipocytes

Identify the main cell type pictured in this image, be specific. This is an image of

Nissl Bodies RER Rough ER Ribosomes

Identify the name given to the basophilic granules indicated by the red arrow.

expressed from only the paternal allele

If we say a gene is maternally imprinted, this means that it is...

remember INCIDENCE=NEW CASES -so we look at graph and count 2 new cases -we now divide that by the total population - the people that already got the disease 100-3 who already had disease So answer is 2 divided by 97

In a sample of 100 in a community, what was the incidence of rheumatoid arthritis in 2002?

Confounding Bias

In a study designed to reduce number of days with a migraine, 300 patients are randomly assigned to receive either topiramate, amitriptyline, or placebo. The primary purpose of this method of assigning patients to different groups is to reduce which of the following?

Two groups with similar underlying characteristics

In a study designed to test the effectiveness of a new drug in the treatment of endometriosis, 100 women were randomly assigned to one of two groups. Forty-eight of the women receive the new drug and 52 receive standard therapy. The primary purpose of this method of assigning patients to different groups is to create which of the following?

the number of copies of one or multiple chromosomes changes from 2

In cases of Aneuploidy...

Transcription initiation

In general, in the gene expression pathway, which step is the most important for controlling the expression of genes?

The smallest distance between two items that are discernible as separate objects.

In microscopy, resolution is defined as:

Glycosylphosphatidylinositol

In rare acquired diseases such as paroxysmal nocturnal hemoglobinuria (PNH) and congenital diseases such as hyperphosphatasia with mental retardation syndrome (HPMRS), patients lack proteins attached to the outer leaflet of the plasma membrane. These disorders are caused by a deficiency in the synthesis of ...

decreasing age of onset

In some trinucleotide repeat disorders, anticipation is observed as increasing severity of presentation as the disease is passed from parent to offspring. Anticipation can also be observed as _____ as the disease is passed from parent to offspring

Correct Answer: 4 stomach -1 is abdominal aorta -2 is vertebral body -3 is liver -5 is spleen

In the image, which number identifies the structure that is responsible for the mechanical and chemical breakdown of ingested food?

Number 3

In the image, which numbered structure is part of the large intestine?

Oxaloacetate to malate

In the malate-aspartate shuttle, _____ is reduced to _____ in the cytosol.

Forms Epiblast and hypoblast.

In the second week of development which of the following is most likely about the inner cell mass/ embryoblast derivatives?

Familial Lipodystrophy

In this disease caused by a mutation in the LMNA gene, patients exhibit peripheral lipoatrophy with muscle prominence, but they accumulate adipose tissue on their faces and around their neck. What is the name of this disease?

2. Ureter 7. Abdominal aorta 9. Common iliac vein

In this view of the posterior abdominal area, what are the names of the structures at labels 2, 7 and 9 respectively?

Epiblast cells of a blastocyst embryo Germ cells Cancer cells Embryonic stem cells

In what cell types is telomerase expressed?

Huntington Disease Small Dad ( of big mom, small dad)

In which of the following diseases is anticipation more likely to occur if it is inherited from a father instead of a mother?

RAS-GDP is inactive state

Inactive state RAS

Fructosuria and Hereditary fructose intolerance

Inherited disorders of fructose metabolism. fructose is present in urine.

-ER protein translocator -Transmembrane proteins of NPC -Cystic Fibrosis Transmembrane conductance reglator CFTR -SRP receptor protein

Likely to be produced in the rough ER

Long bones have an outer layer of compact bone overlying spongy bone

Long bones are still relatively light due to which of the following factors?

G6PD deficiency

Low NADPH leads to hemolytic anemia (free radicals) with bite cells and heinz bodies Fava beans, sulfonamides, primiquine, dapsone X-linked recessive

HNPCC aka Lynch Syndrome - hereditary nonpolyposis colorectal cancer Autosomal dominant Defect in DNA mismatch repair genes - MLH1, MSH2, MSH6, PMS2 Creates "microsatellite instability" - repeat sequences DNA repair defect

Lynch syndrome

heart Gi- coupled Decrease Adenylate cyclase Decrease cAMP K Channel open hyperpolarization- slows heart

M2 receptors

Mucolipidosis II (I-cell disease)

M6P tag cant form

Macrocephaly

Macrocephaly is a condition in which circumference of the human head is abnormally large.

this helps with attrition bias

Make the study protocol as low-burden as possible

Autosomal Recessive Branched chain ketoacid dehydrogenase

Maple Syrup Urine Disease

Primary Prevention

Measures to alter risky behavior, such as tobacco use, are a form of:

Epithelial -Cytokeratin is a commonly-used immunohistochemical marker of epithelial-derived tissues.

Mediastinal lymph nodes excised from a 41-year-old patient with a lung cancer, contain cells that show positive immunohistochemical staining for cytokeratin. These cells most likely originate from which of the following lineages?

telomerase

Melanoma cancer cells ulcerated malignant melanoma mutation causing relative immortality of cells what molecular component responsible?

Clinical heterogeneity

Most patients with cystic fibrosis have lung disease caused by thick, sticky mucus that leads to breathing difficulties and recurring infections. On the other hand, pancreatic insufficiency only occurs in some cystic fibrosis patients. What type of heterogeneity occurs when the presentation of a disease varies from patient-to-patient?

35

Mothers of age ______ and older are considered of 'advanced maternal age' and should be offered prenatal genetic testing for Down syndrome.

-run in families -are associated with many genetic risk factors that have small effects and reduced penetrance

Multifactorial diseases

-typically have both genetic and environmental risk factors -typically have both genetic and environmental protective factors

Multifactorial diseases

A pentose sugar, a nitrogenous base, 1-3 phosphates

Nucleotides are molecules that consist of which 3 distinct components?

Meiotic non- disjunction

Numerical chromosomal anomalies is usually caused by which of the following?

Outcomes -- mortality, morbidity, symptoms, quality of life improvements

O in PICOS

Linker DNA

On average, 50bp of DNA separating nucleosomes on DNA

-For prevalence take anybody that had the disease when period started and add any new cases to that number. -PREVALANCE=TOTAL CASES - In this example count all the lines that occur during that time period and divide that over the total population 7 cases divided by total population of 10,000

Out of a sample of 10,000, what was the prevalence of Hepatitis C between April 1, 2020, and March 31, 2021?

Lead-Time Bias e.g., breast cancer

Overestimation of survival duration due to earlier detection by screening

Oxaloacetate

Oxaloacetate is a four carbon molecule that combines with Acetyl CoA in the Krebs Cycle to form citric acid. This citric acid then loses two carbons as carbon dioxide, to form oxaloacetate again, so that the Krebs cycle can begin again.

Population - definition of the group of participants e.g., men over age 65 defining characteristics disease and possibly the setting

P from PICOS

normally triggers apoptosis Loss of function of p53 protein will prevent apoptosis leading to proliferation

P53

tumor suppressor genes, numerous cancers RB - retinoblastoma and osteosarcoma

P53 and RB

Trisomy 13

Patau syndrome is most commonly caused by _________.

what does the internal iliac vein drain

Pelvic and buttock region

Recall Bias Solution: Use many methods to corroborate the outcome e.g., biomarkers, report of family members, medical records

People don't accurately remember what happened in the past; they make things up or base things on the present circumstances e.g., someone currently depressed is likely to believe that they have always been depressed

Non-respondent Bias Solution: Randomization; stratify by disease severity.

People who choose to be in a study are different from people who do not; research only makes conclusions about those who choose to take part in the study.

Healthy User Effect: Solution: Randomization; stratify by disease severity.

People who volunteer not the same as general population

the right clavicular line

Percussion of the liver span is in line with...

A perineurium that contains blood vessels.

Peripheral nerves are characterized by:

Observer Bias: Solution: Blinding

Person making the assessment/measurement assumes an outcome based on their previous experience; e.g., psychiatrist is more likely to perceive mental illness in everyone based on what they know and have seen

Autosomal

Phenotypes determined by genes located in the pseudoautosomal region PAR1 of the sex chromosomes will appear to have which mode of inheritance?

Autosomal Recessive Phenylalanine PAH

Phenylketonuria

Defeats water tension to keep the air sacs open

Phospholipids and cholesterol are important components of the pulmonary surfactant. What does this mixture do?

1.Dorsal horn of SC 3.Dorsal rootlets of SN 4.Dorsal root ganglion Everything Dorsal is SENSORY Same Dave

Pick all structures composed of sensory neurons and their axons

Muscarinic-1/3- Gq

Pilocarpine produces cyclospasm (spasm of accommodation) by contracting ciliary muscles of the eye. This effect is produced through a receptor -coupled intracellular signaling molecule which is

Muscarinic-1/3- Gq

Pilocarpine produces cyclospasm spasm of accommodation by contracting ciliary muscles of the eye. This effect is produced through a receptor -coupled intracellular signaling molecule which is

DNA Pol δ

Primary replicating enzyme- eukaryotes

C-peptide

Product of proinsulin cleavage used to assess insulin abuse

G-protein-coupled channels

Prolonged changes in neuronal activity are usually achieved through the activation of which of the following?

Single-stranded DNA binding proteins SSBs

Protect the separated strands from digestion by nucleases

transcription Factors Trans-Acting

Proteins that bind to specific DNA sequences in gene regulatory regions, to control initiation of transcription of the gene

10 Divide 2% by 20%

Recent estimates of the prevalence of autism spectrum disorders in the United States is about 2%. If 20% of siblings of children affected by autism, also develop autism, what is the sibling risk ratio of the condition?

N-terminal tails

Regions of histones that bind tightly to DNA and are modified by acetylation and methylation

What is PRISMA?

Reporting guidelines to standardize and improve the quality of systematic reviews and meta-analyses Has increasingly become an important part of evidence-based medicine.

Demand characteristics Solution: Double-blind Studies

Researcher unintentionally acts in a way that influences the outcome -Smiling at certain responses or frowning at others -Treating subjects in certain ways as to obtain a certain outcome

Blinding if patients do not know which group they are in, there are less likely to be differences in reporting across groups

Researchers are concerned about over-reporting of symptoms in the placebo group versus the drug group. The most useful technique to reduce this possibility is...

molecular cause of Rett syndrome

Rett Syndrome is caused by loss-of-function mutations of MECP2 (like nonsense mutations) and so a large number of genes, which would normally be epigenetically silenced by DNA methylation, are instead inappropriately expressed.

Rifampin and warfarin interaction

Rifampin is a 450 inducer so it will decrease warfarin

result in the fusion of the q-arms of two chromosomes

Robertsonian translocations...

Binds readily to RNA.

Rough endoplasmic reticulum (RER) in the cytoplasm is intensely stained blue because hematoxylin:

Study design(s) - all RCTs, RCTs with case reports and cohort studies

S in PICOS

-Are a small family of proteins that each initiate transcription of specific classes of genes with related functions -Recruit the RNA polymerase to the transcription start site -Bind to regulatory elements in the promoter

Select all of the following that apply to prokaryotic Sigma factors. Sigma factors

Sympathetic, acetylcholine

Select the correct combination of postganglionic neuron type and neurotransmitter released​ for activation of sweat glands.

Ran-GDP

Separates from importin or exportin to go its own way

Denaturation

Separation of two strands of DNA by heat or chemical methods

Allelic Heterogeneity- different mutations in a single gene

Seven different mutations in the PAH gene cause 69% of the cases of Phenylketonuria in affected individuals with European ancestry. This is an example of

Vertical transmission- look for an autosomal dominant disease of choices available pick Achondroplasia

Shown is a pedigree of a family affected by an inherited disease. Based on the inheritance pattern observed in the pedigree, which of the following diseases is most likely affecting this family?

AP site

Spontaneous breakage of a glycosidic bond resulting the loss of a purine (or pyrimidine) base from the DNA

Autonomy vs. Shame and Doubt

Stage 2 Erikson psychosocial crisis resolved 18 months to 3 years of life. Ability to self-care.

Generativity vs. Stagnation

Stage 7: 40- 65 Erikson's stage of social development in which middle-aged people begin to devote themselves more to fulfilling one's potential and doing public service

Tear secretion from lacrimal glands

Stimulation of the parasympathetic nervous system would produce which of the following physiological responses?

Unequal crossing over

Structural chromosome abnormalities are most often caused by...

Terminal cisternae of sarcoplasmic reticulum

Structures within skeletal muscle cells that serve as reservoirs of calcium ions

Desmosomes

Studies reveal the child suffers from a genetic condition where epithelial cells exhibit decreased keratin content. Which of the following cell junctions would be most affected as a result of his condition?

Risk related to dose and length of exposure Low doses causes changes in cells that rapidly divide - may take weeks to see damage For muscle/brain (not dividing) - high doses à rapidly kill cells à death

Susceptibility to Ionizing Radiation Effects

Negative Skew Negative Skew: Mortality From Birth

Tail to the left Mode > Median > Mean

Positive Skew Positive Skew: Income Distribution

Tail to the right Mode < Median < Mean

Left bronchomediastinal trunk

The X-Ray reveals a tumor located in the apex of the left lung. Which lymphatic vessel drains the affected organ?

N-linked glycoproteins

The carbohydrate is attached to the nitrogen atom in the side chain of asparagine.

Nucleus DNA

The dye used to stain this image is best used to visualize:

ALDH

The enzymes that metabolize ethanol exist as a variety of isozymes in the general population. A slow-activity isozyme of which enzyme is most likely responsible for an individual to exhibit a very low tolerance to alcohol, leading to the individual rarely drinking?

Uterus

The internal iliac vein drains one of the following organs:

50% of the DNA molecule is denatured

The melting temperature of a dsDNA molecule is the temperature at which

1st

The morula is formed in which of the following weeks?

46, XX

The normal female human karyotype is

Influx of calcium into the presynaptic terminal

The release of neurotransmitter at a chemical synapse in the central nervous system is dependent upon which of the following?

A meiotic nondisjunction in one parent followed by a post-fertilization mitotic nondisjunction

There is growing evidence that uniparental disomy occurs more frequently than previously thought. The mechanism that leads to uniparental disomy is...

Mean ± 2 × Standard Error of the Mean standard error of mean = standard deviation/ square root of sample size

To Estimate 95% CI

5S rRNA

Transcribed outside the nucleolus RNA poly III On large ribosomal subunit (60s)

P53 - numerous cancers

Tumor Suppressor mutations: numerous cancers

-In U.S. - Hep C is most commonly associated with hepatocellular carcinoma -Worldwide Hep B associated with hepatocellular carcinoma -Both account for 70-85% of hepatocellular carcinoma cases worldwide

US v world hep C vs B

DNA damage by pyrimidine dimer formation Xeroderma pigmentosum: Cannot repair pyrimidine dimer formation

UV radiation

Endrophonium

Ultra short-acting cholinesterase inhibitor. Used to diagnose or test for Myasthenia gravis.

Uniparental isodisomy occurred with the offspring inheriting two mutant chromosomes from the carrier parent

Uniparental disomy (UPD) occurs when a child inherits 2 copies of a chromosome from 1 parent and no copies from the other parent. The mechanism that results in UPD is called "Trisomy Rescue". What occurs in trisomy rescue to result in Uniparental disomy.

The size of the smaller expanded allele

Unlike the other trinucleotide repeat disorders, the severity of Friedrich Ataxia corelates with

(1) conversion of pyruvate to PEP via oxaloacetate, catalyzed by pyruvate carboxylase and PEP carboxykinase; (2) dephosphorylation of fructose 1,6-bisphosphate by FBPase- (3) dephosphorylation of glucose 6-phosphate by glucose 6-phosphatase.

What are the 3 irreversible steps of glycolysis and how are they bypassed in gluconeogenesis

Post-ganglionic sympathetic axons

What are the gray rami communicantes composed of?

1) cistern of rER 2) transfer vesicle 3) Golgi cis-face (i.e. forming face) 4) Golgi trans-face (i.e. maturing face) 5) secretory vesicle 6) extracellular space

What is the correct sequence of locations of a secretory protein as it is synthesized and secreted.

Bodies of the somatic sensory neurons

What is the dorsal horn of the spinal cord made of?

Uses energy from ATP to form phosphodiester bonds at nicks

What is the function of a DNA ligase?

Protein synthesis This in an electron microscope image of rough ER. Notice the dense circular structures (ribosomes) on the membrane.

What is the function of these structures?

Defective dynein associated with cilia

What is the molecular cause of primary ciliary dyskinesis (PCD)?

Autosomal Recessive

What is the most likely mode of inheritance of this disease in this family?

Epigastric

What is the name of the abdominal REGION at the area labeled #2 in the accompanying image?

snRNPs- deal with mature mRNA

What is the name of the general class of ribonucleoproteins that match up with pre-mRNA sequences and promote capping & splicing and other molecular events that produce a mature mRNA that can be exported from the nucleus?

Renal artery

What is the name of the vessel that brings oxygenated blood directly to the organ seen in the image?

Dendrite

What part of the neuron receives the afferent signals from the other cells?

Gems/CBs

What portion of the nucleoplasm is devoted to producing and maturing both the snoRNPs and the snRNPs?

Dynein

What powers the stroke of all the cilia in your body?

EF-G of the 50S subunit

What prokaryotic positioning enzyme in translation is blocked by the following? • Erythromycin

They are linear

What property of eukaryotic chromosomes results in their shortening after every round of replication?

They have polarity - a (+) and a (-) end

What property of microtubules allows them to associate with specific motor proteins, such as dynein and kinesin?

phosphorylation of mannose residues

What signals are used to direct an enzyme to a lysosome?

Cilia

What structure is indicated by the red circle.

Cilia cilium

What structure is indicated by the red circle.

Axon

What structure would be found in the area indicated by the arrow

Axons

What structure would be found in the area indicated by the arrows (see image)?

Spherocytes

What term is used to name abnormal spheroidal erythrocytes that have lost their ability to deform, prove unstable in the osmotic fragility test, lose fragments of membrane and are uniformly small and opaque?

Preganglionic sympathetic fibers

What the white rami of a spinal nerve are composed of?

Glial fibrillary acidic protein

What type of intermediate fibers strengthen astrocytes in the CNS?

Inactivated Ran-GDP releases the bound importin or exportin

When Ran GAP hydrolyzes the GTP of Ran-GTP in the cytoplasm which of the following happens next?

3' to 5' exonuclease

When a DNA polymerase makes and error it can correct it through proofreading. What is the name of the proofreading activity?

Increase because epinephrine has a direct positive chronotropic effect on the heart

When a pheochromocytoma (tumor of the adrenal medulla) suddenly releases a large amount of norepinephrine and epinephrine into the circulation, the patient's heart rate would be expected to do which of the following?

Beta receptors were upregulated i.e., increased in numbers

When activated, beta receptors increase heart rate and contractility by increasing cyclic adenosine monophosphate. A 66-year-old man recently diagnosed with atrial fibrillation, a fast very fast heart rate, started therapy with atenolol, a beta-adrenergic receptor blocker. Which of the following changes most likely occurred in cardiac myocytes during the first 2 weeks of therapy?

lactic acid causes under-excretion of uric acid in the kidney

When alcohol consumption interferes with lactic acid disposal in the liver due to a high ratio of NADH/NAD+ the patient may develop or exacerbate uric acid level in the blood gout. What is the explanation for that?

Skewed inactivation of the normal X chromosome

When an X-autosome translocation occurs in a female, we usually see...

additive

When multifactorial diseases have genetic and environmental risk and protective factors, they generally have a(an) ______________ effect on the occurrence of the disease.

lactic acid and malate are impaired to be oxidized in the liver due to the high ratio of NADH/NAD+

When people drink alcohol they may develop hypoglycemia. What is the mechanism of alcohol-induced hypoglycemia.

Lipid rafts enriched in glycolipids and GPI-anchored proteins

When we use the analogy that we have protein ships floating around butter islands on an oil sea, what are the butter islands?

Short-chain fatty acids

When we use the analogy that we have protein ships floating around butter islands on an oil sea, what is the oil?

Facing outward from the outer leaflet of the plasma membrane

Where are glycolipids found?

T1-L2

Where are the bodies of preganglionic sympathetic neurons located?

Paravertebral ganglia

Where can we find the bodies of post-ganglionic sympathetic neurons?

Within the basal layer of the epidermis the stratum basale but above the basal lamina

Where do the blisters form in Epidermolysis bullosa simplex?

right lower quadrant

Where is appendix

Dorsal root ganglion

Where is the body of the first afferent neuron located?

Lining the urinary tract.

Where would transitional epithelium be found?

Xeroderma Pigmentosum

Which disease is associated with nucleotide excision repair dysfunction, and leads to severe photosensitivity?

A neurotransmitter agent that selectively opens ligand-gated chloride channels is the basis for an inhibitory postsynaptic potential

Which electrical event is characteristic of inhibitory synaptic interactions?

Actin microfilaments and microtubules

Which elements of the cytoskeleton are dynamic in that they can grow or shrink rapidly?

It is meant to statistically address attrition bias

Which if the following statements about intent-to-treat analysis is true?

The articles included should be critically appraised

Which if the following statements regarding systematic reviews and meta-analyses is true?

Fluoroscopy

Which imaging modality does not belong to cross-sectional imaging techniques?

Lipodystrophy

Which laminopathy centers on abnormal distribution of fat, with the torso and legs staying lean while the face and neck accumulate mounds of fat?

Hutchison-Gilford Progeria Syndrome

Which laminopathy features progressive nuclear damage that leads to premature aging in young children and death before 15 years of age?

Dilated Cardiomyopathy

Which laminopathy focuses on heart problems and frequently leads to congestive heart failure?

while the median is can also be affected, the mean is much more so

Which measure of central tendency is most affected by outliers?

Myosins

Which motor proteins are associated with the actin microfilaments?

Adenine, Guanine

Which nucleotide bases are purines?

SAM

Which of the following activated intermediates is used for methylation reactions?

Clonidine

Which of the following agents has the greatest ability to activate presynaptic autoreceptors, inhibit norepinephrine release, and decrease sympathetic outflow, and has been used in the treatment of hypertension?

Isoleucine

Which of the following amino acids is both glucogenic and ketogenic in nature?

Results of multiple studies are combined to give a single overall estimate of an effect

Which of the following best describes a meta-analysis?

Decreased Blood Oxygen

Which of the following best describes the changes to blood in an emphysematous lung?

Dermis, epithelial tissue

Which of the following best describes the layer of the skin and the type of tissue found within the outlined region:

Voltage-gated sodium channels are able to be located further apart along the axon

Which of the following best explains the effect of myelination for increasing the speed of action potential propagation along an axon?

Portal Vein

Which of the following blood vessels transports oxygen poor and nutrient rich blood to the liver?

Hyoid

Which of the following bones is located in the neck region?

Triploidy and tetraploidy

Which of the following is an example of polyploidy?

arterial pCO2- goes down serum pH- goes up serum bicarbonate concentration- goes down

Which of the following most accurately summarizes the effects of hyperventilation on arterial pCO2, serum pH, and serum bicarbonate concentration:

c-AMP

Which of the following nucleotides is part of second messenger system during signal transduction?

Formation of neural crest cells

Which of the following occurs in the 3rd week of development?

Gallbladder

Which of the following organs has a function of storing bile?

Intestines

Which of the following regions is most likely lined by simple columnar epithelium?

-it gives a reddish-pink colour -It is specific for carbohydrates -It can be used to detect basement membranes -It is commonly used to detect mucus

Which of the following statements concerning PAS staining is True? Periodic Acid-Schiff

-Induce a signaling cascade -Do not signal through ion channels -Can decrease intracellular cyclic AMP -Can increase intracellular cyclic AMP

Which of the following statements is true regarding G-protein-coupled receptors?

They decrease the activation energy so that the reaction attains transition state faster

Which of the following statements is true regarding enzymes:

Most neurons have only one dendrite.

Which of the following statements regarding neuronal morphology is FALSE?

Tissues are visualized within sections due to their inherent differential colours.

Which of the following statements regarding processing of tissues for histology is FALSE?

-Tissue are cut to generate thin sections. -Fixation crosslinks cellular proteins. -Fixation prevents tissue degradation by cytoplasmic enzymes. -Embedding involves infiltration of tissues with a soluble medium that hardens.

Which of the following statements regarding processing of tissues for histology is TRUE?

It plays a role in the sorting and packaging of protein at its cis-face

Which of the following statements regarding the Golgi apparatus is FALSE?

Affinity

Which of the following terms best explains the ability of a ligand to bind to a receptor?

Basal activity

Which of the following terms correctly describes the activity of a signaling transduction system in the absence of an agonist?

Stratified Squamous

Which of the following types of epithelium would be best suited to line the esophagus, an area that is often exposed to high amounts of mechanical stress?

Region A

Which of the labelled regions consists of loose connective tissue?

-Lactic acidosis -An increase in the NADH/NAD+ ratio

Which one of the following would be expected to occur after acute alcohol ingestion?

Tall stature- trisomies are tall

Which presentation is common to all of the trisomies of the sex chromosomes (47,XXY; 47,XXX; 47,XYY)?

Activation of the reflex causes orthostatic hypotension

Which statement about the baroreceptor reflex is false?

In comparison to copper wires, they are relatively poor conductors of electricity.

Which statement best describes the electrical properties of nerve cells?

A neuron is "facilitated" when its membrane potential is moved in the less negative or depolarizing direction

Which statement concerning synaptic transmission is correct?

Once an action potential is initiated, it will always run its course to completion

Which statement concerning the generation of an action potential is correct?

The refractory period ends when the sodium channels are no longer inactivated.

Which statement regarding refractory periods is true?

It is X-linked semi-dominant and males are more severely affected than females XLR males are gonna be more affected

Why are most individuals with Rett Syndrome female?

-To ensure only bacteria containing the will vector grow -To ensure only bacteria containing the vector with the correct insert will grow -To kill off any contaminating bacterial species

Why is antibiotic selection used in cell-based amplification of DNA? select all that apply

SH2 (Many receptors that have intrinsic tyrosine kinase activity as well as the tyrosine kinases that are associated with cell surface receptors contain tyrosine residues that, upon phosphorylation, interact with other proteins of the signal-transduction cascade. These other proteins contain a domain of amino acid sequences that are homologous to a domain first identified in the SRC proto-oncogene. These domains are termed SH2 domains (SRC homology domain 2))

You are studying the signal-transduction pathways in a cell line derived from a breast cancer. Your studies identify a novel protein that specifically binds a phosphorylated tyrosine residue on the cytoplasmic aspect of a protein kinase-linked receptor. This binding anchors the protein near the cell surface. Which of the following domains is most likely to be responsible for this binding property?

Ribosomes and rough endoplasmic reticulum

You examine a histopathological slide of the spinal cord and notice decreased levels of Nissl bodies in the cytoplasm of motor neurons. You are concerned that this may indicate a decreased secretory activity because Nissl bodies are composed of:

Ribosomes and rough endoplasmic reticulum.

You examine a histopathological slide of the spinal cord and notice decreased levels of Nissl bodies in the cytoplasm of motor neurons. You are concerned that this may indicate a decreased secretory activity because Nissl bodies are composed of:

Hamartoma

a disorganized nodule of cartilage with no cellular features of malignancy

Neostigmine

a drug that inhibits the activity of acetylcholinesterase myasthenia gravis reverse neuromuscular blockers

what does perineurium surrounds

a fascicle of nerve fibers

Azygous vein

a large vein on the right side at the back of the thorax, draining into the superior vena cava.

Glycogen phosphorylase

an enzyme that can be activated by phosphorylation of serine residues

carcinoma in situ

basal membrane intact

1) localization within the epithelium, confined by the basement membrane = in situ 2) micro invasion- spread of epithelial lesion beyond basement membrane 3) local invasion 4) local metastasis - lymph nodes 5) distant metastasis - other organs liver, lung, brain

basis of criteria of staging

Von Willebrand Disease

bleeding disorder characterized by a tendency to bleed primarily from the mucous membranes due to a deficiency of a clotting factor Autosomal recessive

SNAP-25

bo tox A

disrupt snare complex

bo tox B

GLUT 3 transporter

brain

Aldoses

carbohydrates containing an aldehyde group *Aldehyde group: H—C =O *CHO at the end of the chain on the first carbon

carbohydrates in human diet

carbs in diet and there properties

Benzene exposure

carcinogen associated with leukemia.

Lamin defects

cause laminopathies

Aldolase B deficiency

causes hereditary fructose intolerance. This disease manifests after introduction of fructose into the diet with vomiting and hypoglycemia about 20-30 minutes after fructose ingestion.

Rb

causes retinoblastoma and osteosarcoma

1) Caused by exon deletions in the DMD gene where the exons are a multiple of three 2) Patients remain ambulatory until at least age 15-16 3) Dystrophin is produced at lower levels, often with a shortened rod-like domain 4) Affected males can occasionally pass the mutated DMD allele onto their daughters 5) less severe than Duchenne 6) Life expectancy 40-50 years partial loss of function

characteristics associated with Becker

1) Caused by exon deletions in the DMD gene where the exons are not a multiple of three this causes frameshift = bad 2) Patients are typically confined to a wheelchair by age 12-13 3) Complete absence of dystrophin 4) Affected males rarely if ever pass the mutated DMD allele onto their daughters- disease ends with patient 5) Life expectancy teens to 30's 6) gowers manuever 7) more severe

characteristics associated with Duchenne

Glycogen storage disease

characterized by the accumulation or lack of glycogen in one or more tissues due to isoforms of glycogen enzymes most common is Von Gierke's disease

rate of elimination of the drug/ plasma drug concentration

clearance =

features of mitochondrial genome

closed circular chromosome low proportion of non-coding DNA packaged by supercoiling carries both coding and non-coding genes

Produce high amounts of ATP

clusters of cells with entirely eosinophilic cytoplasm. The nuclei are centrally located and contain both euchromatin and heterochromatin, nucleoli is not clearly distinguishable from heterochromatin. Which of the following most likely describes the function of these cells?

competitive antagonist drugs

competes with agonist, higher affinity drug binds first

Emery-Dreifuss muscular dystrophy

condition that chiefly affects muscles; characterized by progressive contractures which develop in childhood; result of a mutation to emerin protein, which is a part of the nuclear lamina

narrow angle glaucoma elderly males with BPH

contraindications for atropine use

pyruvate dehydrogenase

converts pyruvate to acetyl-CoA. - stimulated by insulin - inhibited by acetyl-CoA

pyruvate carboxylase

converts pyruvate to oxaloacetate

Frequency of an allele= 2×Homozygote Number+ 1×Heterozygote Divided by 2 times the population

counting formula

take number of little a from Aa -80 add this take 2 times a allele from aa- 2 * 10 = 20 Divide this number by total alleles which is 2 times the # of individuals In this example 100/2000 = .05 = 5 %

counting formula for frequency of mutant allele take number of little a from Aa take 2 times a allele from aa

thymine

deamination of 5-methylcytosine results in

TPP (thiamine pyrophosphate)

decarboxylates pyruvate transketolase

exerts a positive influence on the activity of PDH toward pyruvate

dephosphorylation

colchicine - mechanism of action? - used for?

depolymerizes microtubules, impairing leukocyte chemotaxis - acute/chronic gout

Adenoma is a benign tumor of epithelial origin.

describe adenoma

Loose connective tissue around fibers

endoneurium

cerebrosides gangliosides

examples of glycolipids

hexose sugar- when forms ring furanose

fructose

contains charged Glycosaminoglycans (GAGs) that attract water

function of ground substance

sulfation and phosphorylation of glycoproteins

function of the Golgi and not the Rough ER

lactose

galactose and glucose

IPTTT I pee and three tees Isoleucine phenylalanine Threonine Tryptophan Tyrosine

glucogenic and ketogenic

mostly liver, and beta cells of pan crease high km aka low affinity HIGH VMAX- can deal with high carb meals mostly glucose positive regulation by insulin

glucokinase

glycolysis irreversible steps

glucokinase/hexokinase, PFK-1, pyruvate kinase

sucrose

glucose and fructose

Alpha ketoglutarate

glutamate, glutamine, proline, arginine

2,3-bisphosphoglycerate (BPG)

glycolysis- if pyruvate kinase is deficient- what will accumulate

provide binding sites for bacteria and viruses and antigenicity on cell surface

glycoproteins

Signaling during fasting has the goal of releasing monomers from polymers used for storage and also keeping functional levels of glucose in the blood. Glucagon and epinephinre are major players during fasting. The signaling used for catabolic reactions involves Gs coupled receptors that result in increased cAMP. Insulin signaling activates cAMP phosphodiesterase and fine tunes the levels of cAMP and thereby the activation of the corresponding catabolic pathways.

goal of signaling during fasting

Bex and Bak - "good twins" cause apoptosis

good twins

how recognizable it is from its original tissue

grading

where the bodies of neurons are located

gray matter

Autonomy vs. Shame

he patient is an 18-month female that is being seen for a well-check. During the examination, the patient walks to the counter and attempts to grab at some of the items. The mother starts yelling at the infant, saying she is a "bad girl" and shouldn't touch anything. According to Erikson, which stage might the patient have difficulty resolving?

cystic fibrosis (CF)- Autosomal recessive

hereditary disorder of the exocrine glands characterized by excess mucus production in the respiratory tract, pancreatic deficiency, and other symptoms

hole body low km aka high affinity low vMAX all hexoses no regulation by insulin

hexokinase

3 irreversible steps of glycolysis

hexokinase, phosphofructokinase, pyruvate kinase

pyruvate dehydrogenase

high lactic acid administer thiamine thiamine is converted to a coenzyme used by which of the following enzymes?

promotes GLUT4 mobilization to the plasma membrane

how does insulin effect signaling pathway on GLUT 4 transporter?

Antimycin A

inhibits complex III of ETC

nope

is hyaluronic acid sulfated and attached to a protein?

Mode

is least affected by outliers

Carcinomas uniformly express cytokeratins which are intermediate filaments

keratin whirls associated with what tumor marker

L and L leucine and lysine

ketogenic amino acids

lagging strand template

label A

leading strand template

label C

Vd * TC

loading dose =

In the secretory vesicles

most common location of conversion of proalbumin to albumin Proinsulin to insulin

Thiamine, then glucose

order of drunk

volume of distribution of the drug

required in calculation of loading dose

dense regular connective tissue

tendons composed of

antigenicity

the ability of the agent to induce antibody production in the host

BCL2 gene- anti apoptosis gene, leukemia

translocation t 14:18 what gene activated by this translocation?

LDL

transports cholesterol and other lipids in the blood.

Chediak-Higashi syndrome

treated with bone marrow transplant therapy

3 carbon glyceralde and glycerose

triose

true

true or false -Biases that lead to an attenuation of the association between two variables falsely shrink the association.

C-peptide is packaged with insulin in secretory vesicles

true statement about fate of C-peptide

Aerobic and anerobic

two types of glycolysis

glucose 6 phosphate to pyruvate

unable to synthesize fructose 2,6 bisphosphate what process in liver is affected

SGLT1

uptake of glucose and galactose from lumen

almost all of drug has left vascular tissue and is distributed in the targe tissue

v distribution of 2000 liters

long, supply entire body- make plexuses

ventral branches aka rami

ground substance lubricant shock absorbers- joint cartilage

what are the uses of GAGS

The liver is the main organ to keep glucose levels in the blood. The kidney is used under conditions where metabolic acidosis develops especially during long starvation.

what is main organ to keep glucose levels in blood

HPV 6 and 11 - genital warts

what type Human Papillomavirus (HPV) not integrated into genome- less important

simple columnar ciliated epithelium

what type of tissue

imported from the cytosol

where do most enzymes and peroxisomal cargo originate from

between sternocleidomastoid and trapezius

where do we find internal jugular vein

Ethanol metabolism occurs primarily in the liver, via a two-step oxidation sequence to acetate plus NADH. Acetate is activated to acetyl-CoA for energy generation by most tissues of the body.

where does alcohol metabolism occur and what is the sequence

dorsal horn of the spinal cord

where does interaction between somatic and visceral afferents occur

Right Upper Quadrant (RUQ)

where is Liver

Left Upper Quadrant (LUQ)

where is Spleen

left lower quadrant

where is sigmoid colon

I-Cell Disease Psuedo-Hurler poliodystrophy

which diseases that we discussed are considered mucolipidoses - accumulation of glycoprotein and glycolipid

Southern Blotting

which technique is preferred for measuring the size of the trinucleotide repeat sequence -Myotonic Dystrophy

binds to alpha 1 receptors to elevate blood pressure

why epinephrine during cardiac arrest

smaller membrane capacitance of myelinated axons

why is conduction velocity in myelinated axon faster

The normal aorta is 2 - 3 cm wide in a health adult patient.

width of normal aorta in adult patient

Afebrile

without fever

6

you're assessing the one minute APGAR score of a newborn baby. On assessment, you note the following about your newborn patient: weak cry, some flexion of the arm and legs, active movement and cries to stimulation, heart rate 145, and pallor all over the body and extremities. What is your patient's APGAR score?

X- linked dominant disorders

•Rett Syndrome •Fragile X Syndrome

Fragile X Syndrome

•X-Linked dominant (semi-dominant) •CGG expansion in 5'-UTR of FMR1 •X chromosome: cytological fragile site

Fragile X Syndrome (FRAXA)

•X-Linked dominant (semi-dominant) •CGG expansion in 5'-UTR of FMR1 •X chromosome: cytological fragile site

Pyruvate kinase deficiency

↓ ATP; RBCs dehydrated; ↑ 2,3-BPG (right-shifted OBC)

Microfilaments

(A 28-year old female suffered a miscarriage at 5-month gestation. She is seeking genetic counselling to understand the cause of death of her child. Histopathological studies revealed abnormally shaped cells from various tissues.) EM examination show decreased density of terminal web, abnormal core of microvilli and fewer cytoskeletal tracks for myosin motor proteins. Which of the following cellular fibers is most likely affected?

1) IV Loose (areolar) Connective tissue- provides a structure for immune cells to proliferate 2) V Dense irregular Connective tissue- strong, tear-resistant tissue; forms fibrous protective covering for bone (periosteum), cartilage 3) VI Dense regular Connective Tissue- forms tendons and ligaments 4) VII Adipose Tissue-2 types of adipose tissue: white (or yellow) and brown fat

4 different types of connective tissue

Labetalol

A 27-year-old pregnant woman with hypertension and paroxysmal supraventricular tachycardia is initiated therapy with a mixed adrenergic antagonist that blocks alpha1-, beta1- and beta2-adrenoceptors. This drug is most likely to be

Central muscarinic receptors

A 42-year-old man with a history of motion sickness when traveled by short-boat trip to hop Caribbean islands. His physician has prescribed a medication available in patch form to be placed behind the ear prior to travel. The effectiveness of this agent is most likely due to an action on which of the following receptors?

Metoprolol is less likely to precipitate bronchoconstriction

A 44-year-old woman comes to her physician with hypertension and bronchial asthma; pharmacotherapy was initiated with metoprolol. Why metoprolol is better than propranolol in this individual?

Pralidoxime and atropine

A 49-year-old farmer is taken to the emergency department immediately following accidental contamination with organophosphate insecticide on the farm. Which of the following pharmacotherapy combinations should be used to treat this individual?

Decreased flow of luminal fluids

A 53-year old man with a history of breathing abnormalities is being evaluated for Kartagener syndrome. This condition can result from a mutated structures within cilia. Which of the following functional deficits is most likely causing this patient's symptoms?

Neostigmine

A 54-year-old patient undergoes intra-abdominal surgery for appendicitis. During his post-operative recovery, he develops constipation and abdominal discomfort due to a paralytic ileus (paralysis of the bowel) that can result from surgical manipulation of the intestines. From the list of options below, which would best treat his condition?

Timolol- Time for Camp is over-

A 54-year-old woman is diagnosed with open angle glaucoma for which she is prescribed a drug to be applied as drops to the conjunctiva each day. After several months of treatment, it is apparent that the intraocular pressure was well controlled by this medication which acts by decreasing cAMP. Which of the following drugs is most likely used for this condition?

simple cuboidal epithelium Note the round nuclei and square-shaped cells, indicative of cuboidal. A single layer of cells rests on the basement membrane.

Classify the epithelium in the image

Respiratory epithelium

Classify the type of epithelium pictured in this slide.

stratified squamous stratified squamous epithelium

Classify the type of epithelium pictured in this slide. Be specific.

Esophagus

Considering the typical function of stratified squamous epithelium, in which of the following regions is it most likely to be found?

GPI

an anchor for extracellular proteins.

component of biological membrane

phosphatidyl inositol

ketone bodies

4 days no food- fuel source for brain is?

Mutation

A permanent change in the DNA sequence

Plasmid

A small closed-circular vector capable of carrying relatively small payloads

in the cytoplasm

APC controls beta catenin where?

Fragile X Syndrome

CGG

CTG repeat

Myotonic Dystrophy

mRNA, tRNA, ribosome subunits

Nuclear pore complex exports

insulin signaling

Protein phosphotase is activated by?

Importin

Releases cargo when it binds Ran-GTP

Lamin A, B & C

What are the main proteins found in the nuclear lamina?

cytidine triphosphate

What is the name of this molecule?

macroglossia

enlarged tongue

pyruvate kinase

enzyme in step 10 of glycolysis

PKA

•activated by cAMP

Oxaloacetate to malate

- takes place in mitochondria - requires NADH

Odd-Chain Fatty Acids can form Glucose by?

- Entering Krebs Cycle Odd-Chain Fatty Acids → Propionyl-CoA → [Propionyl-CoA Carboxylase, Biotin] → Methylmalonyl-CoA → [Methylmalonyl-CoA Mutase, B12] → Succinyl-CoA → Krebs

2,3-bisphosphoglycerate (BPG)

- Precursor is an intermediate in glycolysis - Levels of 2,3-BPG increase when glucose concentrations become abundant - Stimulates release of O2 from Hb and stabilizes T formation

Edwards Syndrome Symptoms?

- Severe Intellectual Disability - Rocker Bottom Feet - Congenital Heart Disease - *Overlapping Fingers* - Low Set Ears - Small Jaw

GLUT 3 transporter

- facilitated glucose transport - > 1 mM KM - located in brain

Ataxia Telangiectasia ATM gene defect- ATM is cell cycle checkpoint protein

-3 year old F -decreased muscle coordination, lack of coordination and slurred speech - enlarged blood vessels in sclera and face what disease and mechanism?

Rivastigmine

-Anticholinesterse - increases ACh -Alzheimer disease

Human T-Cell Leukemia Virus Type 1

-CD4 cells are the target for neoplastic transformation, just like HIV -90% asymptomatic carriers -transmission of infected T cells via sexual intercourse, blood products, or breastfeeding

What is health equity?

-Parity in health outcomes, regardless of socio-demographic factors, such as race, culture, wealth, and geographic status. -What we are trying to achieve in public health -An important goal in providing patient-centered care

Patau Syndrome Symptoms?

-decreased intellectual development -small head -small lower jaw -cleft lip -extra digits on hands or feet

Zellweger syndrome - blond peroxisome

-membrane doesn't recognize localization aa signal -failure to import peroxisomal enzymes -accumulation of VLCFA in glia and liver -lack of plasmalogen

complementation

-occurs when mating between individuals with the same phenotype results in offspring without the phenotype - mating between individuals homozygous for mutations in different genes results in all offspring being heterozygous

v-SNARE and t-SNARE

-present on the vesicle that is coming from the rER -will attach to t-SNARE present on target membrane and promote vesicle *fusion* -once fusion is complete an ATPase disassembles the SNARE complex

Meachromatic leukodystrophy

-progressive leukodystrophy in CNS and PNS -rare autosomal recessive lysosomal disorder -bad ARSA gene -characteristic change in color of staining of biological tissue

Hunter Syndrome (MPS II)

-similar to hurler- no corneal clouding -only x-linked MPS -variable mental retardation -defect in Iduronate 2 sulfatase -build up of Heparan and Dermatan sulfate

Steps of Gluconeogenesis

1. Glutamine 2. Oxaloacetate 3. Phosphoenolpyruvate 4. Glucose

V Loose (areolar) Connective tissue

1. Ground substance is a semi-fluid gel; fluid is derived from blood filtrates from constituent capillaries 2. Fibers are loosely packed, irregular bundles of type 1 collagen and elastic fibers 3. Cells are fibroblasts, fibrocytes, pericytes, mast cells, macrophages and other leukocytes

Functions of lipids

1. long-term energy storage 2. act as structural components of cell membranes 3. provide insulation

palpate spleen

1. place left hand over abdomen and posterior the left side 11th/12th fibs lift for support. 2. right hand on LUQ with fingers pointing toward the left axilla and inferior of the rib margin. 3. push hand deeply down and under the left costal margin/ ask person to take a deep breath. 4. documentation -no enlargments palpated

Number needed to harm equation

1/AR

builds a tower of 2 cubes speaks a few words 25% of utterances intelligible

15 months

-Coordinated walking -walks up stairs with hand held -Feeds self with spoon but makes a mess Drinks from cup -Uses 10-20 words -indicated desires by pointing Becomes more clingy with caregivers -Engages in pretend play with dolls

18 months

Puts on simple clothes

24 months

Normal body temperature

98.6 F aka 37 C

Cri du chat syndrome

A deletion of the short arm of chromosome 5 associated with an array of congenital malformations, the most characteristic of which is an infant cry that resembles a meowing cat.

Placebo Effect

A single-blind controlled trial is conducted to assess the effectiveness of injections of lidocaine into "trigger points" of pain symptoms in patients with fibromyalgia. Fifty patients are randomly assigned to biweekly trigger-point injections with 0.9% saline only or 0.9% saline plus lidocaine. The relative risk for pain symptoms after eight weeks was 1.8 [95% CI: 0.7-2.5]. Which of the following is the most likely explanation for these findings?

2.8= ph log base/acid aka HA/A-

A solution of lactic acid (pH of 3.8) is found to contain 0.2 M in the dissociated form and 0.02 M undissociated form. What is the pKa of the acid?

Gap junctions

A substance of low molecular weight is injected into a cell. A short time later, the substance can be identified in the injected cell and in the adjacent cell. There is also evidence that the two cells are electrically coupled. Electron microscopy is most likely to disclose which of the following structural specializations between the two cells?

Stereocilia

Actin filaments are prominent in the core of:

Colon cancer, Familial adenomatous polyposis (FAP) - 100% chance of malignancy from adenomatous polyps Usually APC shuts down B-catenin b/c APC is tumor suppressor gene Mutation =nucleus= abnormal transcription of Beta Catenin

APC - B-catenin

nicotinic receptor antagonist.

An experimental animal is treated with a drug that lowers blood pressure by blocking synaptic transmission only in autonomic ganglia. This drug is most likely a(n):

Temporal summation

Activation of a single excitatory input to a motoneuron causes a subthreshold excitatory postsynaptic potential (EPSP). However, activating that single neuron causing five sequential excitatory inputs to the same motoneuron produces a suprathreshold EPSP. The change in effectiveness of the EPSP is due to which of the following?

RAS is bound to GTP

Active state RAS

primary- in DRG secondary- nuclei of the dorsal horn of the spinal cord third- nucleus of the thalamus

Afferent tracts- 3 steps up

Nucleosome

Almost 2 loops of DNA wrapped around a histone octamer

Clonodine

Alpha2-receptor blocker. Lowers BP, raises HR, decreases norepinephrine.

Myotonic Dystrophy- autosomal dominant

Altered RNA function- gain of function

Huntington's disease- autosomal dominant Spinocerebellar Ataxia- Autosomal dominant

Altered protein function- gain of function

-Failure of nucleotide excision repair of DNA -These children have an autosomal recessive condition known as xeroderma pigmentosum (XP). Affected individuals have extreme photosensitivity, with a 2000-fold increase in the risk of skin cancers. The DNA damage is initiated by exposure to ultraviolet light; however, nucleotide excision repair cannot occur normally in XP because inheritance of one of several XP genes is abnormal.

An 8-year-old female, born out of the second-degree consanguineous marriage presented with complaints of hypo- and hyper-pigmented spots since the age of 1 year all over the body. She had a history of acute sunburn all over the body except armpits and perineum after sun exposure. On examination, she had multiple hyperpigmented warty growths over face and large foul-smelling fungating growth over nape of the neck extending over to upper back (10 cm × 8 cm). Biopsy of the growth showed features of squamous cell carcinoma. Which of the following mechanisms is most likely to produce neoplasia in this patient?

High levels of intracellular calcium

An individual carries a mutation in muscle Protein kinase A such that the protein is refractory to high levels of cAMP. Glycogen degradation in the muscle would occur, then, under which one of the following conditions?

Develop as an infertile phenotypic male with testes

An individual with a 46,XX,+SRY karyotype is most likely to...

Testes, male genitalia and infertility If you gotz the SRY you got testes

An individual with a 46,XX,+SRY karyotype will likely develop with...

Karyotype

An individual's complement of chromosomes

Debranching enzyme

An infant with growth retardation, hepatomegaly and hypoglycemia demonstrates hepatic fibrosis without fat accumulation on liver biopsy. There is also accumulation of small chain dextrin- like material within the cytosol of the hepatocytes. Which of the following enzymes is most likely deficient in this patient?

Increase the amount of cholesterol in the membrane

At normal physiological conditions, which is another way in which a membrane can be made less fluid?

disrupt endocrine function

BPA food containers

Epstein Barr virus EBV is a member of the herpesvirus family (HHV-4) and has been associated with several diseases, including heterophil-positive infectious mononucleosis, Burkitt lymphoma, and nasopharyngeal carcinoma.

Bubble Boy- marrow transplant While his body did not reject the transplant, in a few months he became ill with a virus, a member of the herpes family, which infects B cells and epithelial cells of the oropharynx. Unfortunately, David died from a cancer associated with 8:14 translocation. Which of the following viruses can be associated with this cancer development?

Comparator - describe the control group; are often poorly described

C in PICOS

Burkitt Lymphoma MYC mutation also in colon, lung, breast cancer etc. Translocation and amplification Amplification = worse prognosis = aggressive

C-MYC

Pyridostigmine (Mestinon)

Category: Cholinergic, Anticholeristinase, Use: Myasthenia Gravis, reverse neuromuscular blockers

-Larger effect sizes -A consistent association between variables, and across various contexts -The independent variable reliably preceding the dependent variable -Increasing exposure leading to increasing outcomes

Causality is supported by...

Huntington CAGe the hunt also cerebellar ataxia

CAG

Spinocerebellar Ataxia:

CAG repeat in an exon

DiGeorge Syndrome symptoms

CATCH 22 Cardiac defects Abnormal Facies Thymic hypoplasia Cleft Palate Hypocalcemia

Glycoprotein synthesis

CDP-Sialic acid

phospholipid synthesis

CDP-choline

Ipratropium

COPD and acute asthma

Myotonic Dystrophy

CTG

Myotonic Dystrophy:

CTG repeat in a 3' UTR

CHS1/LYST involved

Chediak-Higashi

BRCA-1/BRCA-2 - breast cancer MSH2 - Colon cancer (HNPCC) ATM- Lymphoma (Ataxia telangiectasia) Nucleotide excision - XP - skin cancer

Common cancer mutations :4 DNA repair mutations :

Silencing

Cytosine methylation

lamina propria

DCT not found in

*5' to 3' exonuclease

DNA polymerase I synthesizes DNA and proofreads while it synthesizes, but its primary purpose is to remove RNA primers. Which polymerase activity is responsible for primer removal?

-encoded by several nuclear genes -whose mRNA are translated into several proteins by ribosomes in the cytoplasm -Upon proper folding, each subunit is imported into the nucleus by importin so that they can assemble into the holoenzyme.

DNA polymerase delta-main enzymes responsible for making DNA during replication. This enzyme is ?

Silencing

Deacetylated Histones

N-linked glycoproteins thing ER

Dolichol phosphate is required as an anchor for growing carb chains while synthesizing?

sensory neurons

Dorsal root ganglia

send axons into spinal ganglia, top part

Dorsal root ganglion

Median effective dose (ED50)

Dose required to produce a specific therapeutic response in 50% of a group of patients.

Isotonic​

During surgery, exposed tissues are moistened with sterile solution to prevent shrinkage or lysis of the cells. Which of the following does the solution have to possess relative to cells in the tissue?

1) The Ran-GTP binds tightly to the Exportin and causes it to pick up cargo from the nucleoplasm 2) Ran-GTP remains bound to the cargo-loaded Exportin, and together, they migrate back out into the cytoplasm through specific interactions with some of the nucleoporins

During the process of nuclear export, a Ran-GTP encounters an Exportin, what happens next?

False

Enhance the ability to palpate the spleen with the patient in the left lateral decubitus position.

300 mOsm/kg H20​

ECF osmolality is roughly which of the following?​

Microfilaments

EM examination show decreased density of terminal web, abnormal core of microvilli and fewer cytoskeletal tracks for myosin motor proteins. Which of the following cellular fibers is most likely affected?

Encodes epidermal growth factor receptor (EGFR) - point mutation with continuous activation of tyrosine kinase receptor pathway Lung Adenocarcinoma

ERBB1

N-glycanase

Enzyme which removes oligosaccharides chains from ER proteins that have been retro translocated into the cytosol.

LDLR gene

Familial hypercholesterolemia

tumor suppressor defect

Fanconi anemia

Odd chain fatty acids

Fatty acids are ketogenic in that they are metabolized to acetyl-CoA which can be used to form ketone bodies. Which type of fatty acid is also glucogenic? a. unsaturated fatty acids b. odd chain fatty acids c. polyunsaturated fatty acids d. saturated fatty acids

-Males with Premutation alleles Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) -Presumed FMR1 mRNA toxicity with premutation repeat lengths -Gain of function at the RNA level -Females with premutation alleles -Premature ovarian failure

Features of Fragile X Tremor Ataxia Syndrome (FXTAS)

breast, lung, stomach

Fibroblast Growth Factor -FGFR

Immovable

Fibrous joints have which of the following properties?

DNA polymerase δ or ε

Filling-in the gap created by primer removal:

13q BRCA2: This gene has been localized to chromosome 13q12; it is associated with an increased incidence of breast cancer in men and women.

Fine needle aspiration cytology was performed, and diagnosis of invasive ductal carcinoma was made. Subsequent genetic testing reveals a mutation of the BRCA2 gene. Which of the following is the location for this mutation?

Microvilli

Fingerlike extensions of plasma membrane of apical epithelial cells, increase surface area, aid in absorbtion, exist on every moist epithelia, but most dense in small intestine and kidney

staging is more important- one exception is chondrosarcoma

Grading vs staging

•NO (cytosolic) and ANP (receptor)

Guanylate cyclase is activated by

Fragile X Tremor Ataxia Syndrome (FXTAS)

Gustavo is a 70-year-old man who has recently begun experiencing tremors and difficulty controlling his limbs. He has a great-grandson affected by Fragile X. Genetic testing of Gustavo's FMR1 gene showed 170 CGG repeats -below the pathogenic threshold for Fragile X. What is his most likely diagnosis?

Sandhoff disease

HEX B associated with

Colon cancer + family hx of endometrial cancer

HNPCC is associated with

Defective DNA mismatch repair (MMR) proteins : MLH1, MSH2, MSH6, PMS2 Creates "microsatellite instability" TGFBR2, TGFβ receptor II mutated in 70% HNPCC colon cancers

HNPCC- Hereditary nonpolyposis colorectal cancer aka LYNCH SYNDROME

core histones

Have N-terminal tails rich in positively charged amino acids

A 5-year old boy is seen by a dermatologist after experiencing a series of unexplained blisters and scars that often become infected. He is diagnosed with bullous pemphigoid, a genetic skin condition that results from inadequate adhesion of epidermal epithelial cells to their underlying structures. Abnormalities in which of the following structures would most likely be associated with bullous pemphigoid?

Hemidesmosomes

Activating

Histone Acetyl Transferases

Silencing

Histone Deacetylases

-A disease will manifest when liability exceeds a threshold -The severity of the disease increases with increasing liability above a threshold

How is liability in an individual related to their risk for a multifactorial disease?

1) A disease will manifest when liability exceeds a threshold 2) The severity of the disease increases with increasing liability above a threshold

How is liability in an individual related to their risk for a multifactorial disease?

acetaldehyde modifies amino groups of proteins and other macromolecules that alter their normal function. In addition the cytochrome P450 produces superoxide and other ROS that lead to protein damage.

How is oxidative stress caused by chronic ethanol consumption?

(i) haploinsufficiency; (ii) dominant

If complete loss-of-function of a single allele of a gene results in a decreased protein expression that is inadequate to meet the requirements of the cell, the mutation results in ___(i)___and a disease with a ___(ii)___ mode of inheritance.

Lateral ventricles

If the cerebral aqueduct gets obstructed, the CSF would accumulate in one of the following locations:

There is no association between the intervention and the outcome

If the diamond sits on the line of no-effect, this indicates that...

2

If the mean IQ is 100 with a standard deviation of 15, how many standard deviations above the mean is 130?

1

If the mean IQ is 100 with a standard deviation of 15, how many standard deviations below the mean is 85?

2 cM 2 centimorgans

If the recombination frequency between two loci is θ=0.02, what is the genetic distance between the loci?

X chromosomes are randomly inactivated in each cell in embryos at the blastocyst stage

In human females, the Lyon law describes which of the following?

Formaldehyde and formic acid

In methyl alcohol poisoning, there is central nervous system depression, cardiac depression and optic nerve atrophy. These effects are produced due to:

ORC

Initial binding to replication origin:

promoters

Initiation of transcription of genes is controlled by regulatory regions in and around the coding sequence of the gene. Which types of regulatory region(s) are used in prokaryotic genes?

One Schwann cell engulfs many unmyelinated axons

It is possible she may be showing initial signs of Guillain-Barre syndrome, an autoimmune disorder that targets Schwann cells. Which of the following best describes the relationship between Schwann cells and peripheral axons?

make decisions on behalf of a patient who in incapacitated and unable to speak for him/herself

It is the role of the surrogate decision maker to:

Classic PKU ( most severe form)- because adding the cofactor wont help if there is no enzyme present BH$ will work for variant PKU as well as non-PKU because there is residual enzyme activity

Kuvan aka Sapropterin Hydrochloride is a pharmaceutical form of tetrahydrobiopterin BH4 used in the treatment of some phenylketonuria (PKU) patients. Which of the clinical variants of PKU is LEAST likely to respond to sapropterin hydrochloride?

Label D

Leading strand ?

Locus heterogeneity

Leigh syndrome can be caused by mutations in at least 70 different genes, and as a consequence can have autosomal recessive, mitochondrial and x-linked modes of inheritance. What type of heterogeneity occurs when the same disease occurs as a result of mutations in different genes?

Deficiency of muscle phosphorylase

McArdle disease

which resident neuroglial cell is responsible for phagocytosing cellular debris?

Microglial cells

-steroid hormone synthesis -detoxification -membrane lipid synthesis -plasma lipoprotein synthesis

Name 4 functions of smooth ER

Type I collagen

Name a component that would stain with H&E, and therefore be directly visible by light microscopy in a histological section.

Produces ribosomal RNA subunits

Name an important function of the nucleolus:

Autosomal Recessive Tyrosinase

Oculocutaneous Albinism

Since amino acids alanine and glutamine from the muscle myosin are the regulated carbon source for the production of glucose during gluconeogenesis, muscle mass is lost due to gluconeogenesis being active during long starvation.

One consequence of starvation is a reduction in muscle mass. What happens to the muscle proteins?

its members possess a special body of knowledge, and are accorded a certain level of respect in return for the services they provide

One of the defining characteristics of a profession is that:

Loss-of-function of both alleles of the OCA2 gene in 15q11.23

One potential cause of oculocutaneous albinism Type 2 is....

1)A court-appointed guardian or conservator of the patient, IF the consent is within the scope of their authority; 2) The spouse of the patient; 3) An adult child of the patient; 4) A parent of the patient; 5)An adult sibling of the patient; 6) The nearest living relative of the patient.

Order of decision making

When screening identifies a condition that would not have caused symptoms and where treatment does not prolong life

Overdiagnosis is defined as:

variety of cancers

P53 is associated with

is well known cancer associated with radiation exposure - Used radiation to treat acne before WWI

Papillary thyroid cancer

Stroking the sole of the infants feet

Parents bring their newborn daughter for her one month check-up. How would you test the babinski reflex?

Benztropine trihexyphenidyl anticholinergic drug

Parkinson Disease Dystonia

electrotonic conduction

Passive spread of a charge within a neuron due to a local ionic change. The magnitude of a subthreshold potential decays exponentially with the distance from the site of stimulation because of loss of energy to the medium.

Miosis and vision fixed for near Pilo carp dry mouth Pilo make Mio sis and vision fixed for near

Pilocarpine was used for the treatment of dry mouth and dry eyes. Which of the following effects could be produced by this drug in the eye?

Reproducibility of your measurement Repeatedly using a CALIBRATED thermometer to measure a patients​ temperature you record the following precise measurements: 98.6, 98.5, 98.6, 98.6, 98.7

Precision aka Reliability/Reproducibility

β1 receptors

Primarily stimulatory Located in heart (increase heart rate and force) and in kidney (stimulate renin secretion)

1) sandhoff AR 2) both parents are carriers 3) mom 2/3, 4)

Q 14 from 13-5 QA

Diencephalon

The eye develops from one of the following parts of the brain:

Clinical Heterogeneity

SOME INDIVIDUALS WITH CYSTIC FIBROSIS WHO ARE HOMOZYGOUS FOR THE AF508 MUTATION PRESENT WITH PANCREATIC INSUFFICIENCY, WHEREAS OTHER INDIVIDUALS WITH THE SAME GENOTYPE DO NOT. THIS IS AN EXAMPLE OF...

voltage-gated sodium channels are concentrated at the nodes of Ranvier

Saltatory conduction in myelinated axons results from which of the following?

spreads via blood...fleshy, soft, no desmoplasia, spindled shape

Sarcomas how do they spread?

Postganglionic sympathetic, norepinephrine

Select the correct combination of neuron and neurotransmitter released by that type neuron.

Schedule a meeting with the residency program director

She has just discovered that her chief resident, Carl Rains, has been regularly using amphetamines to stay awake when he is on-call. Petra has tried talking to Carl to express her concerns. However, he is not willing to discuss the issue, telling her "It's none of your business so just leave me alone." What should Petra's next step be?

Selection against cells carrying a gene mutation on the active X chromosome

Skewed X-Chromosome inactivation is usually caused by:

Activation of nonselective cation channels

Slow excitatory postsynaptic potentials (EPSPs) are produced in postsynaptic cells by neuropeptides released during repetitive stimulation from nerve terminals. A slow EPSP could be produced by which of the following?

SIADH

Small cell carcinoma of the lung

Friedreich Ataxia autosomal recessive size of 2nd allele is what matters look for biggest 2nd allele, which is column 2

Southern Blotting was carried out on the GAA repeat within the FXN gene of 4 individuals. Which individual is likely to be most severely affected by Friedreich Ataxia?

CTG expansion in 3' UTR of DMPK gene is associated with Myotonic Dystrophy (DM1) This is autosomal dominant disease so look for biggest allele column who is Individual I Does display anticipation- expansion in female germline

Southern Blotting was carried out on the genomic DNA of 4 individuals to determine the size of the CTG repeats of their DMPK genes. Which individual is likely to be most severely affected?

Elevated serum creatine kinase Calf pseudohypertrophy

Symptoms in both Duchenne and Becker

Viscera

The internal organs of the body

•All 3 have essentially identical clinical presentation, with minor variations in the gangliosides which accumulate in neuronal lysosomes has to do with HEX A, HEX B in sandhoff gangliosidosis

Tay sachs, sandhoff, activator deficiency

Myotonic Dystrophy DM1 RNA gain of function

Teenage Female •Long, narrow face •Open, triangle mouth •Ptosis

Transketolase

The HMP shunt has an enzyme that requires thymine and is used to make ribose for nucleotide synthesis, what is it?

The carbons of acetyl-CoA from fat oxidation are lost as CO2 in the TCA cycle

The ability of the liver to regulate the level of blood glucose is critical for survival. Several sources of carbon atoms of nonhepatic origin are used by the liver for gluconeogenesis. However, the net conversion of carbons from fat into carbons of glucose cannot occur in humans because of which of the following?

1) find vMax 2) find 1/2 vMax 3) look for substrate concentration at 1/2 VMax

The activity of an enzyme is measured at several different substrate concentrations and the data are shown in the table below: What is the km for this enzyme?

Midbrain, pons, medulla

The brainstem includes the following parts of the brain:

the long arm of chromosome 15, region 1, band 1, sub-band 2

The chromosomal region 15q11.2 refers to...

Inspection, auscultation, percussion, palpation

The correct order for the abdominal examination is

Somatic sensation

The cortex of the postcentral gyrus is responsible for the processing of one of the following signals:

Stringency

The degree to which mismatches are tolerated during hybridization

Step #5

The diagram picture shows the steps involved in neurotransmitter synthesis and release. Which step number corresponds to the site of action of botulinum toxin?

increase in the extracellular osmolality​

The first physiological change that occurs upon infusing a hypertonic solution intravenously into an experimental rat will be which of the following?​

The left suprarenal vein enters the left renal vein The right suprarenal vein drains into the IVC The left renal vein is longer than the right one

The following statements about the renal veins are true

Gluconeogenesis

The formation of glucose from noncarbohydrate sources, such as amino acids.

Internal carotid

The frontal lobe of the cerebrum is supplied by one of the following vessels:

Attach adjacent epithelial cells to each other.

The function of a desmosome is to:

Viscera

The general visceral afferent fibers transfer the signals from the receptors located in one of the following structures:

Recombinations are more common in females due to meiotic prophase arrest

The genetic distance between two points is usually larger when determined in females than males. The explanation for this is that.

Loss-of-function, haplosufficiency

The genetic mechanism that leads to the mode-of-inheritance of DMD, PKU, MSUD and OCA1 is

Loss-of-function at the protein level

The genetic mechanism that leads to the pathophysiology of Friedrich Ataxia is...

K50 - increases and Vmax - no change

The kinetics of an allosteric enzyme is shown in the graph. An experimental drug X is added, and the results are shown. Which of the following sets of findings best describes the effect of drug X on enzyme activity?

Schwann cell

The letter D on the electron micrograph of nervous tissue shown represents a nucleus of which of the following?

Thoracic duct

The lymph from the lower limbs is drained by the one of the following vessels:

Venous angle

The lymph re-enters the blood circulation in one of the following locations:

50%

The maximum average recombination frequency that can be observed between two loci, if the loci are unlinked is

Induction of PEP carboxykinase synthesis by glucagon

The maximum capacity of the liver to carry out gluconeogenesis during starvation depends upon which of the following?

4

The mediastinum has following number of compartments:

Gross Motor Delay

The patient is a 15-month girl brought into the family physician's office by her mother. She pulls herself to standing position by holding the examining table, but is unable to walk on her own. When she falls after attempting to let go of the exam table, she falls into a sitting position and says "oh-oh" and then shakes her head "no". She calls her mother "mama" and her father "dada.". She tries to pick up toy cubes offered and is able to stack 3 cubes on her own. She looks away from the physician and hugs her mother, but she does wave "bye—bye" to the physician when she leaves. Which of the following describes the development of this child?

Row A choice A

The plasma membrane is made up of a lipid bilayer, which determines the ability of substances to move in and out of the cell. Which of the following substances are lipid soluble and water soluble, respectively?​

Liver

The portal vein carries the nutrients from the intestine to one of the following organs:

Euchromatin

The predominant chromatin conformation during interphase

Heterochromatin

The predominant chromatin structure in metaphase chromosomes

Mutagenesis

The process by which stable changes in the DNA sequence occurs

Avoid observer and subject bias

The purpose of a double-blind or double-masked study is to

Facilitated diffusion​

The rate of absorption of a drug taken orally is found to increase as the dose ingested is increased up to a point where further increases in dose result in no further increases in the rate of absorption. Absorption does not appear to result in the splitting of ATP. Which of the following processes best describes the drug absorption?​

The basement membrane underneath respiratory epithelium.

The red arrows in this image identify (see image):

Epiblast cells

The trilaminar disk is formed from which of the following?

Endothelium

The tunica interna of the vascular wall consists of one of the bellow:

Left colic flexure

The vagus nerve (CN10) supplies the viscera of the thorax and abdomen as far as the:

Subclavian and internal jugular veins

The venous angle is formed by a confluence of the following vessels:

Myelinated axons

The white matter is a collection of one of the below

99% nuclear, 1% mitochondrial

There are about 1000 proteins that function in the mitochondria. The genes encoding these proteins can be found in either the mitochondrial genome or the nuclear genome. Approximately what proportion of these genes are nuclear vs. mitochondrial?

Exhibit slower transmission than myelinated fibers

These axon fibers were less abundant than myelinated fibers and limited to mostly the autonomic nervous system. Which of the following best describes unmyelinated fibers?

Increased proliferation Oxidative stress Reactive oxygen species

These create DNA damage and potential for malignant transformation Hepatocellular carcinoma

Transketolase

Thiamine is required as a cofactor for which of the following enzymes?

Iduronate sulfatase (hunter's syndrome)

This enzyme deficiency leads to mild mental retardation and gargoylism and X-linked recessive. no corneal clouding skin lesions over scapula

good communication

This is an example of: Daniel Watson is a 30-year-old man who is visiting his dermatologist Dr. Nicholas Blake for a strange rash. Dr. Blake examines the rash carefully and asks relevant questions about Daniel's medical history, activities and general health. Dr. Blake informs tell Daniel this is probably a form of dermatitis, and gives him a prescription for an ointment to put on the rash. He explains how the ointment is to be applied and tells Daniel that he does not expect it to cause any side effects. He adds that he would like to see Daniel in 2 weeks for a follow-up visit. Before leaving, Dr. Blake asks if there is anything else Daniel needs or care to discuss.

occurs when a parent with a balanced Robertsonian translocation involving chromosome 21 has an unbalanced child with 3 copies of the chromosome 21 q arm

Translocation Down syndrome...

Slippage of the DNA polymerase during replication

Trinucleotide repeat expansions and contractions are caused by

that parent's meiosis 2

Trisomy occurs when an individual inherits two copies of a chromosome from one parent and one copy from the other parent. If the two copies that came from the same parent are identical to each other, we know the nondisjunction must have occurred in...

Uniparental disomy

Trisomy rescue can result in...

-One Schwan Cell myelinates one axon. One S one A -One Axon is myelinated by several Schwann cells. -Clefts of Schmidt Lanterman contain cytoplasm.

True of myelination

False

True or False An agonist ligand with low affinity for its receptor cannot be potent

True

True or False- The Socioecological Model provides a framework for understanding how circumstances outside of the individual, and at various levels, can impact their outcomes

False

True or false A 13-month-old patient that is not walking independently would be considered developmentally delayed and should be referred for early intervention.

the examiner should do first palpation lightly with one hand

True or false- The examiner always begins palpation of the abdomen using both hands to deeply assess for masses.

p16INK4a - Melanoma

Tumor Suppressor mutations: Melanoma

•Boy initially causes Type I error: villagers think there is a wolf when there isn't

Type I error

Helicase

Use energy from ATP to separate the two DNA strands

prevents stimulant effect of cigarette smoking by binding presynaptic nicotinic receptors partial agonist- some dopamine release = no craving

Varenicline aka ray liotta Chantix

Calculate loading dose

Vd x Plasma Concentration

Rab-GTP

Vesicle docking

v-snares T-snares

Vesicle fusion

glycogenolysis and gluconeogenesis

Von Gierke's Disease affects which metabolic pathways

failure of nucleotide excision repair Cannot repair UV light damage to DNA including pyrimidine dimer formation leads to skin cancer

Xeroderma pigmentosum

Gluconeogenesis

a ubiquitous multistep process in which glucose is produced from lactate, pyruvate, or oxaloacetate, or any compound that can be converted to one of these intermediates.

1) with right hand palpate to the left of the midline above ubmilicus 2) pressing hands flatly on abdomen- estimate size of aorta 3) should be less than 3 cm

abdominal exam- how to palpate aorta

Rb (retinoblastoma)

absence of both copies of genes that contribute to control of the cell cycle. What gene has undergone mutation ?

amenorrhea

absence of menstruation

smooth muscle

absences of peristalsis is a problem with

I-cell disease

absent enzyme marker in Golgi apparatus mannose 6-phosphate ; empty lysosomes

ALDH

acetaldehyde dehydrogenase. An enzyme that converts acetaldehyde into acetate.

contraction of circular muscle causes constriction of pupil aka miosis - causes contraction of ciliary muscle lens becomes more convex - vision is fixed for near objects aka spasm of accommodation

acetylcholine effects on eye

M6P binds proteins in TGN and exports them via receptor dependent transport

acid hydrolases directed and packaged within lysosome

phosphorylase kinase

activates glycogen phosphorylase

phosphorylase kinase

activates glycogen phosphorylase increases glycogen breakdown

high ATP and high citrate Allosteric inhibition

allosteric regulation of PFK1 - high energy in cells

high ADP or AMP high fructose 2,6 bisphosphate ALLOSTERIC ACTIVATION

allosteric regulation of PFK1 - low energy in cells

glucagon

alpha cells of pancreas increases- cAMP activates protein kinases counter regulatory

Bcl-2 and Bcl-xL - "evil twins" cause non-apoptosis aka proliferation

bad twins

One

bioavailability of IV drug is

SAM S-adenosylmethionine

biological methylating agent

botulism toxin

blocks release of acetylcholine

APC normal function:

by phosphorylation, it degrades beta c in cytosol, and prevents it from entering nucleus for transcription

cancer cells have more active RAS protein than normal cells because of defective GTP ase activating proteing

cancer cells and RAS

features of mitochondrial genome

carries none of the protein-coding genes necessary for mitochondrial gene expression *carries only protein-coding genes necessary for electron transport and ATP synthesis

accumulation of calcium oxalate crystals in kidneys

cause for renal failure in antifreeze ingestion

Andersen Disease (Type IV GSD)

deficient enzyme: glycogen branching enzyme (4:6 transferase) glycogen: abnormal, long chains, fewer branches symptoms: infantile cirrhosis due to auto immune attack of glycogen, death by 5

choristomas

ectopic islands of normal tissue are called

beta cat gets de-phosphorylated, builds up in cytoplasm, and enters nucleus for transcription> thousands of polyps

effect of Mutated APC

Beri Beri Disease

erythrocyte transketolase activity

1) well fed- carbs 2) hepatic glycogenolysis 3) hepatic gluconeogenesis

first 3 phases in glucose homeostasis

Ran-GDP

form of Ran found in the cytoplasm

there is no significant effect

if the diamond touches or sits on the line

Karyopherins

importins and exportins

Oxaloacetate to malate

increase in ratio of NADH to NAD what reaction is favored under these conditions

ADH secretion

increase in what would occur in response to diarrhea

glucagon

increased glycogenolysis increased gluconeogenesis increased lipolysis decreased liver glycolysis

Rotenone

inhibits complex I

chromosome 13 q arm

invasive ductal carcinoma mutation of BRCA2 gen ( a tumor suppressor) location of mutation?

Hyperacusis

is a hearing condition that causes a heightened sensitivity to sound, making everyday noises, like running water, seem extremely loud.

galactose and glucose

lactose

label B

lagging strand

macroorchidism

large testes

Competitive or silent antagonist blocker

ligand that does not produce its own response but blocks the response of an agonist

Sarcoma- skeletal

malignant neoplasm arising in mesenchymal cells; skeletal tissues, such as cartilage, bone and the fat

Melanoma

malignant skin tumor

Desmin

marker for muscle cells

Vimentin

marker for sarcoma

Pompe disease

massive cardiomegaly septal hypertrophy accumulation of glycogen

factors activating TCA cycle

matrix calcium levels low ATP to NADH ratio

incomplete penetrance some individuals with the disease causing mutation do not present with the disease at all

mechanism that explains how she carries the mutation but is unaffected

L-selectins

membrane proteins that recognize and bind to addressins.

simple squamous

mesothelium around heart

contraction of the pupil of the eye.

miosis

citrate

molecule used to transport acetyl-CoA to cytosol for fat synthesis

Spatial summation occurs when __________.

multiple postsynaptic potentials arrive near same location on motoneuron

cystic fibrosis (CF)

mutation in CFTR Autosomal recessive incorrectly folding protein- ejected and degraded lung congestion and infection malabsorption of nutrients

Familial Hypercholesterolemia

mutations LDL-R increased plasma cholesterol increase synthesis LDL

glutamine

nitrogen donor for the formation of amino sugars is?

invasion of dermis with keratin pearls

nodule on back of hand from repeated sun exposure

sucrose and trehalose

non reducing sugar

60-100 bpm

normal heart rate

N-glycanase

not likely to be produced in the Rough ER

Plasmalogens

one fatty acyl chain attached to glycerol by an ester linkage and one attached by an ether linkage and the same head groups as other phosphoglycerides

XALD X linked adrenoleukodystrophy

onset 5 years spasticity adrenal atrophy visiion loss death within a few years

important in tissues that are synthesizing fatty acids and cholesterol

pentose phosphate pathway

Dense connective tissue around fascicles

perineurium

Functions of lipids

phospholipids and cholesterol 9kcal/g steroids ADEK vitamins second messengers-diacylglycerol

inactive

phosphorylated PDH is

STAT proteins

phosphorylated and activated by JAK

Werner Syndrome (Adult Progeria) autosomal recessive WRN aka Werner protein, defect causes problems with teleomeres

physical appearance older than age cataracts osteoporosis What disease and mechanism

The gray rami communicantes contain:

postganglionic sympathetic fibers

cholesterol

precursor for: bile acids vitamin D corticosteroids sex steroids

vinblastine mechanism of action

prevents microtubule assembly

The Golgi network

primary lysosomes originate from

deficient phosphatidylcholine

problem in respiratory distress syndrome

Selectin

protein involved in leukocyte adhesion to endothelial cells

metabotropic receptors

receptors that act through a second messenger system slower

metabotropic receptors

receptors that are associated with signal proteins and G proteins

C-peptide

recombinant insulin does not have

NADH dehydrogenase complex I

reduced pyruvate oxidation in the presence of malate due to defect in which respiratory component

What are The terms "competence" and "capacity":

refer to "global" versus "continuum based" assessments of a patient's mental abilities to understand and process information

GLUT 3

responsible for rapid uptake of glucose into the brain

Lung cancer

risk associated w/uranium miners

Helps good twins, •Active PTEN: No Akt or Bcl-2 activation: Accumulation of Bax → pore formation → apoptosis

role of active PTEN

at least one of the 4 cell cycle regulators CDK4, RB, CDK1, Cyclin D is dysregulated in the majority of cancers

role of cell cycle control and malignancy

Initial vesicle docking is facilitated by Rab-GTP and its binding to the tethering protein

secretory pathway between RER and golgi

paraysmpethetic would decrease- decreased peristalsis of small intestines

severing vagus nerve

loss of fluid in ECF and ICF no change to osmolarity

shift for sever diareha

Hunter syndrome

similar to Hurler, deficient L iduronosulfate sulfatase, accumulations of heparin sulfate and dermatan sulfate, hepatospenomegaly, micrognathia, retinal degeneration, joint stiffness, mental retardation, cardiac lesions p59

Laminopathies symptoms

skeletal and/or cardiac muscular dystrophy, lipodystrophy and progeria aka premature aging

Biotin deficiency

skin rash, hair loss, neurological disturbances

ALDH

slow activity of which enzyme leads to very low tolerance to alcohol

L2 or L1

spinal cord terminates at level

where the dorsal root- top Sensory and the ventral root -bottom Motor, meet spinal nerves splits again into dorsal and ventral branch which are mixed

spinal nerve

Steady state of a drug

stable level of drug in the body, occurs in 5 half lives of the drug

9) Using diaphragm of stethosscope asking patient to take deep breaths with mouth open 10) make a J pattern 8 points down back- makin sure to go lateral to listen to all fields of lungs 11) I am going to tap on your back- put one hand flat on back underneath rib cage with other fist pound on hand, and ask if patient feels any discomfort- this should also be in abdominal exam last step

steps of chest exam back side part 3

Glucagon functions to

stimulates glycogen break down to raise blood sugar

Cholesterol, Glycosphingolipids, Phosphatidylcholine are all normal components of the plasma membrane.

the following are found as part of the plasma membrane?

Gluconeogenesis

the making of glucose from a noncarbohydrate source such as amino acids or glycerol

acanthocytosis

the presence of acanthocytes in the blood stream, disorder of erythrocytes in which spiny projections appear on the blood cells

Cartilage

type II

Andersen Disease (Type IV) Andersen cooper is straight

Branching enzyme deficiency Normal amount, but long chains in liver and muscle Symptoms: infants show liver dysfunction hepatic cirrhosis by 1 yr.; lethal by 2-4 yrs. Pathology due to abnormal glycogen (long chains/branches

Hypertrophy-

On a routine visit to the physician, an otherwise healthy 63-year-old man has a blood pressure of 160/100 mm Hg. He is told he has high blood pressure. He states, "I don't want to take any pills," and promptly leaves the office. If his hypertension is left untreated for several years, which of the following cellular adaptations will most likely be seen in the myocardium of his heart?

apologize and explain to Josey that she received the wrong medication, but she seems to have suffered no serious or lasting effects

On further investigation, it was discovered that Josey had been given another patient's medication by mistake. The most ethically appropriate course of action for the physician to take would be to:

Submental

On physical examination, a 47-year-old woman is found to have enlarged lymph nodes located inferior to the mandible at the chin area. Which of the following lymph nodes are enlarged in this case?

In the left fifth intercostal space

On the surface of the chest, the physician is able to locate the apex of the heart

She carries an X-autosome translocation that disrupts the IL2RG gene and skewing prevents expression of the functional IL2RG allele

(.A 3-year-old girl presents with failure to thrive, and recurrent infections. A complete blood count reveals she has a virtual absence of lymphocytes, and she is diagnosed with severe combined immunodeficiency SCID.) Genetic testing reveals an IL2RG gene defect. What is the most likely mechanism to explain how a female can present with X-Linked SCID?

One Schwann cell engulfs many unmyelinated axons One Schwann for many

(A 16-year old girl is being evaluated for difficulty walking. Neurologic examination reveals areflexia (absent or decreased reflexes) bilaterally, as well as decreased muscle strength. Her hand muscles are atrophic and various somatic sensations are impaired.) It is possible she may be showing initial signs of Guillain-Barre syndrome, an autoimmune disorder that targets Schwann cells. Which of the following best describes the relationship between Schwann cells and peripheral axons?

Ependymal cells

(A 2-month old newborn is brought to the emergency department because of a two-week history of extreme fussiness, vomiting, and seizures. Upon physical examination, the baby has a noticeably bulging fontanel (on the surface of the skull) and an abnormally large head circumference. Radiologic examination revealed increase amounts of cerebrospinal fluid (CSF), and hydrocephalus was diagnosed.) You are unable to locate a CSF drainage blockage, leading you to consider that it may be caused by CSF overproduction. If this were the case, which of the following cell types is most likely involved?

Microglial cells

(A 28-year old male returns home from a trip to the tropical rain forests of Brazil complaining of headaches, fever, sensitivity to light and neck stiffness. Clinical examinations revealed encephalitis (inflammation of the brain) due to an acquired infection of the West Nile virus.) When neural tissue is damaged, which resident neuroglial cell is responsible for phagocytosing cellular debris?

Muscarinic-3 agonism-

(A 35-year-old woman is brought to the emergency department because of an 18-hour history of severe pain, nausea, vomiting, diarrhea, and anxiety. She was discharged with a pain medication from the hospital 2 weeks ago after treatment of multiple injuries sustained in a motor vehicle collision. She took her last dose 36 hours ago. Her temperature is 97.8F (36.6C), pulse is 105/min, respirations are 24/min, and blood pressure is 160/85 mm hg.) Physical examination shows piloerection, lacrimation, sweating, rhinorrhea, nasal congestion, diarrhea, and abdominal cramping. The adverse effects are most likely mediated through which of the following actions? of the following?

Irritant effect

(A 46-year-old man has smoked 2 packs of cigarettes per day for the past 30 years. He has had a chronic cough for the past 3 years, worsening over the last 2 weeks. A suspicious left pulmonary parenchymal lesion is seen on a chest x-ray. He has a bronchoscopy performed. )A biopsy of a segmental bronchus shows squamous metaplasia. Which of the following is the most appropriate interpretation of this finding?

BCL2 anti-apoptosis gene This is an example of chromosomal translocation that brings BCL2, an anti-apoptosis gene, close to another gene (immunoglobulin heavy chain gene). The BCL2 gene becomes subject to continuous stimulation by the adjacent enhancer element of the immunoglobulin gene, leading to overexpression

(A 49-year-old man has a lump near his right shoulder that has been increasing in size for the past 8 months. On physical examination, a 4-cm, firm, nontender mass is palpable in the right supraclavicular region. The mass is excised, and microscopically it shows a lymphoid neoplasm.) Karyotypic analysis of the cells shows a chromosomal translocation, t 14;18, bringing the immunoglobulin heavy chain gene together with another gene. Which of the following genes is most likely activated by this translocation?

Aerobic glycolysis (The PET scan is based upon selective uptake of a glucose derivative into tumor cells. The Warburg effect occurs when cancer cells shift their metabolism to aerobic glycolysis for selective growth advantage under harsh circumstances. Glycolysis also yields pyruvate for anabolic demands of increased tumor doublings. Cancer cells are less differentiated than normal cells and thus have decreased ability to do many complex biochemical processes, so they favor a simple one—glycolysis. Gluconeogenesis is a function of hepatocytes in response to decreased caloric intake. The HMP shunt is more useful to normal cells maintaining themselves at the status quo. Polyol pathway is active in cells using fructose rather glucose. Neoplasms generate large amounts of purines from cell divisions and cell turnover that must be eliminated as uric acid, but neoplastic cells do not perform this task.)

(A 56-year-old Caucasian male with past medical history of a high-grade astrocytoma of the right temporal lobe presented to the oncology clinic with dyspnea and palpitations for several weeks. On physical exam, he was noted to have decreased breath sounds to auscultation on the right and dullness to percussion in the mid to lower right hemithorax. A positron emission tomography (PET) scan of his chest shows a single focus of increased uptake. This focus is resected and microscopic examination shows that it is a metastasis.) Which of the following metabolic pathways is most likely up-regulated to promote the tumor proliferation and spread?

Vesicular monoamine transporter (VMAT)

(A 58-year-old man with severe hypertension who has not achieved his therapeutic goal for controlling his blood pressure after treatment with a combination of 4 different antihypertensive drugs for the past 6 months.) Having exhausted the list of the most highly recommended hypertension drugs, his physician adds reserpine to his drug regimen, since it has a unique mechanism of action, and remains as less opted therapeutic option due to adverse effect. The molecular target for this antihypertensive drug, reserpine is inhibition of:

Immunohistochemistry

(A 59-year-old man has noticed blood in his urine for the past week. Cystoscopy shows a 4-cm exophytic mass involving the right bladder mucosa near the trigone. After biopsy specimens are obtained, he undergoes a radical cystectomy. Examination of the excised specimen shows an anaplastic carcinoma that has infiltrated the bladder wall.) Which of the following techniques applied to the cells from his neoplasm is most likely to categorize the cell of origin?

Hamartoma

(A 65-year-old man was admitted for detailed examination of a slow growing nodular shadow in the left lung detected in a routine chest X-ray check-up. The shadow increased in size from 12×15 mm to 13×16 mm within five months. On admission, the patient was asymptomatic. He had smoked 20 cigarettes per day for 50 years. Physical examination, laboratory tests, and tumor marker measurements revealed no abnormalities. The man was scheduled for surgery, and the lesion was removed.) The pathology report described the mass as a disorganized nodule of cartilage, with no cellular features of malignancy. What is the general term for this lesion?

Cytokeratins (Tumor markers are products of malignant neoplasms that can be detected in cells or body fluids. Useful tumor markers include immunoglobulins, fetal proteins, enzymes, hormones, and cytoskeletal proteins. Carcinomas uniformly express cytokeratins, which are intermediate filaments. S100 (choice A) is a marker Neural cells, melanocytes, fat cells, chondrocytes, macrophages. Vimentin (choice B) provides a marker for sarcoma. Desmin (choice C) is a marker for muscle cells. Synaptophysin (choice E) is a marker for neuroendocrine tumors, including small cell carcinoma of the lung.)

(A 72-year-old male with a long history of tobacco chewing and smoking was admitted to a hospital. The patient complained of progressive hoarseness, and loss of appetite and weight for the last eight months. For the last six months, he noticed a periodic difficulty in swallowing solid food that increased with time, and pain in the right ear and the right side of neck below the mandible.) Laryngoscopic examination showed a growth on the right side of the larynx 3 cm x 2.5 cm x 3 cm in size. A biopsy is obtained (Image). Immunohistochemical studies of this biopsy specimen would most likely show strong expression of which of the following tumor markers?

GTPase-activating proteins (GAPs) (The activity state of G-proteins is regulated both by the rate of GTP exchange for GDP and by the rate at which the GTP is hydrolyzed to GDP. The activity of G-proteins with respect to GTP hydrolysis is regulated by a family of proteins termed GTPase-activating proteins (GAPs). The proto-oncogenic protein, RAS, is a G-protein involved in the genesis of numerous forms of cancer (when the protein sustains specific mutations).)

(You are studying the signaling pathways suspected to be altered in invasive breast carcinoma. You are focused on the activity of the RAS protein that can bind either GTP or GDP and become activated leading to the further cell signal transduction.) You find out that the cancer cells have much more active RAS protein than normal cells. Which of the following proteins is most likely to be defective in the invasive breast carcinoma cells, resulting in abnormal RAS activation?

Angelman syndrome

*Frequent seizures *Happy demeanor *Spasticity *Hyperactivity *Severe intellectual disability

NADPH oxidase deficiency

-Chronic granulomatous disease -Phagocytes of patients with CGD can utilize H2O2 generated by invading organisms and convert it to ROS. -Patients are at increased risk for infection by catalase ⊕ species (e.g., S. aureus, Aspergillus) capable of neutralizing their own H2O2, leaving phagocytes without ROS for fighting infections.

potential cause of Angelman syndrome

-Deletion of 15q11-13 from the maternal copy of chromosome 15 -Paternal uniparental disomy of chromosome 15 -Paternal imprints persisting on the maternal chromosome 15 -Loss-of-function of UBE3A

potential cause of Prader-Willi syndrome?

-Deletion of 15q11-13 from the paternal copy of chromosome 15 -Maternal uniparental disomy of chromosome 15 -Maternal imprints persisting on the paternal chromosome 15 -Loss-of-function of SNRPN

Friedrich Ataxia

-EARLY CHILDHOOD -degenerative disorder of CEREBELLUM & MULTIPLE SPINAL CORD TRACT LESIONS -presents as ATAXIA (cerebellum) with loss of vibratory sense and proprioception, muscle weakness in LE, and loss of DTR -autosomal recessive - unstable trinucleotide repeat (GAA) in FRATAXIN gene - essential for mitochondrial iron regulation - if this is messed up, free radical damage via *fentin reaction* -presents in early childhood -a/w *hypertrophic cardiomyopathy**

clinical presentations in Prader-Willi syndrome?

-Hypotonia in newborns -Poor feeding in newborns -Moderate intellectual disability -Excessive eating beginning in childhood -Obesity and related comorbidities

G6PD deficiency

-X linked recessive -hemolysis of RBC's due to oxidative insult -fava beans, infections, hep, sulpha drugs, anti-malarials

Down syndrome characteristics

-Poor muscle tone -Low set ears -Short neck/head -Upward slanting eyes -Wide/short hands and fingers -Simeon crease on hands -Intellectual impairment -Flat nasal bridge -epicanthal fold

cerebrosides and gangliosides

-Sphingosine backbone -Carbohydrates as head groups -Cerebrosides: monosaccharide; ganglioside: polysaccharide

Role of VHL gene

-The von Hippel-Lindau (VHL) gene acts as a tumor suppressor, and it normally produces a protein that binds to hypoxia-inducible factor 1-alpha so that it is cleared. VHL mutation leads to loss of this binding protein and activation of angiogenesis factors. -Individuals with VHL syndrome have various neoplasms, including pheochromocytomas, renal cell carcinomas, and hemangioblastomas. The other listed genes have products that do not directly act on angiogenesis pathways.

Psuedodominance

-a recessive trait mimics a dominant trait on a pedigree -sickle cell in Africa -CF in quebec -Type O blood

Tay-Sachs

-accumulation of gangliosides- GM2 -rapid and progressive neurodegeneration -blindness -cherry red macula -muscular weakness -seizures

Chediak-Higashi syndrome

-autosomal recessive -CHS1/LYST gene -recurrent infections -eyes sensitive to sunlight -light skinned children -albinism

Beta 2 agonists for Asthma

-beta 2 agonists promote bronchodilation by activating beta 2 receptors in bronchial smooth muscle...

Wolf-Hirschhorn Syndrome

-deletion of chromo 4p -Clinical features: facial anomalies, widely spaced eyes, prominent nose, abnormal iris (coloboma), cardiac anomalies, intellectual & developmental delay, face looks like "Roman Helmet"

Tay-Sachs disease

-diminished hexosaminidase A activity -hypotonia -macrocephaly -hyperacusis -retinal cherry red spot -child of first cousins -SEIZURES

glycogen phosphorylase

-enzyme that cleaves glucose from the non-reducing end of a glycogen branch by phosphorylating it -glycogen is more branched (branches occur more frequently) --> more points where enzymes can come in & break down glycogen *permits rapid release of glucose from glycogen stores *animals require rapid mobilization of glucose (more than plants)

Fructokinase deficiency aka Fructosoria

-essential fructosuria -fructose is peed out bc can't be metabolized at all -positive benedicts test false diabetes diagnosis sometimes

I-cell disease symptoms

-lack of growth -acid hydrolases lacking M6P are secreted extracellularly -coarse features -death from Congestive heart faliure -death from respiratory tract infections -life expectancy less than ten years -prevent formation of M6P tag

180 kcal 2*10*9 grams per fat each

2 slices pizza containing 10 grams fat each how many calories consumed

320 k cal 2*40*4

2 slices pizza containing 40 grams carbs each how many calories consumed

Colchicine

Which of these drugs bind tubulin subunits and prevent them from polymerizing into microtubules?

Histone octamer

2 copies each of histones H2A, H2B, H3 and H4

PTEN deleted, leads to excessive survival & growth = cancer

2nd most mutated gene in cancer after p53

CT and Ultrasound

32-year-old man present to ER with acute abdominal pain, vomiting and fever of 101F for the past 6 hours. On PE the tests are positive for acute appendicitis. What are the diagnostic tests that would help to establish the diagnosis?

more double bonds more short chain phospholipids increase temp decrease cholesterol

4 ways to increase membrane membrane fluidity

-Infertile phenotypic male with testes -Infertile since missing other Y genes for spermatogenesis

46,XX with SRY+ gain of function

Slippage- backwards slippage results in expansion likely Huntington disease

47F, decreased muscle coordination, jerky movements, slurred speech -atrophy of caudate nucleus -cognitive decline over 6 months what is disease and what is mechanism

The equilibrium potential for chloride (E −) can Cl be calculated using the Nernst equation as follows: ECl− (in millivolts) = +61 × log (Ci/Co), where Ci is the intracellular concentration and Co is the extracellular concentration. Hence, ECl− = +61 × log (5/125) = −85 millivolts.

5 Cl− Intracellular 125 Cl− Extracellular Which of the following best describes the equilibrium potential for Cl− (in millivolts)?

Aniline dyes Transitional cell carcinoma is the most common malignant tumor of the urinary bladder, and the incidence of bladder cancer is increased in aniline dye workers. (These azo dyes are converted to water-soluble carcinogens in the liver. They are excreted in the urine, where they primarily affect the transitional epithelium of the bladder.)

60-year-old man who worked for 30 years in a chemical factory complains of blood in his urine. Urine cytology discloses dysplastic cells. A bladder biopsy demonstrates transitional cell carcinoma. Which of the following carcinogens was most likely involved in the pathogenesis of bladder cancer in this patient?

Hypotension

A 43-year-old patient is recovering from abdominal surgery and develops post-operative urinary retention. Bethanechol was given to treat this condition. Which of the following adverse effects is most likely expected because of this medication?

Glycerol

A 2-year-old boy with weakness on exertion is found to have a pyruvate carboxylase deficiency. Which of the following compounds could this child use as a substrate for gluconeogenesis?

One HTT allele with an expanded CAG repeat

A 22-year-old male presented with general weakness and stiffness in his distal muscles. A physical exam noted frontal balding, testicular atrophy, ptosis and a tendency for his mouth to remain open. What is the pathobiochemical mechanism of his condition?

Sequestration of a splicing factor by mRNA

A 22-year-old male presented with general weakness and stiffness in his distal muscles. A physical exam noted frontal balding, testicular atrophy, ptosis and a tendency for his mouth to remain open. What is the pathobiochemical mechanism of his condition?

Pharmacokinetic tolerance

A 22-year-old medical student started smoking cigarettes four weeks ago. Now he is smoking 8 to 10 cigarettes a day. He has noticed that the first cigarette of the day often causes a mild tachycardia (increase in heart rate), which does not usually occur with the following cigarettes. Which of the following terms best defines this tolerance pattern?

Hemosiderin in hepatocytes

A 22-year-old woman has a congenital anemia. She has required multiple transfusions of red blood cells for many years. She now has no significant findings on physical examination. Which of the following microscopic findings would most likely present in her liver?

Flexion elbow a flexin

A 23-year-old man comes into the emergency room with a crush injury to the elbow joint. Which of the following types of movement would most likely be impaired in this type of accident?

Activation of the WNT signaling pathway (•The patient has a classic history of familial adenomatous polyposis with numerous adenomatous polyps and malignant transformation. The earliest event in the APC → adenocarcinoma sequence is loss of APC gene function. This prevents the destruction of β-catenin in the cytoplasm, which translocates to the nucleus and coactivates transcription of several genes. The APC → β-catenin sequence is a component of the WNT signaling pathway. RAS activation occurs after the malignant transformation sequence is initiated by the APC (gatekeeper) gene. Loss of cell cycle G1 arrest occurs with p53 loss late in the sequence. Mutations in mismatch repair genes give rise to hereditary nonpolyposis colon cancer syndrome from loss of ability to repair DNA damage. The BCL2 gene is not involved in the transition from adenoma to carcinoma.)

A 26-year-old man with a family history of colon carcinoma undergoes a surveillance colonoscopy. It reveals hundreds of polyps in the colon, and two focal 0.5-cm ulcerated areas. A biopsy specimen from an ulcer reveals irregularly shaped glands that have penetrated into the muscular layer. Which of the following molecular events is believed to occur very early in the evolution of his colonic disease process?

Gain of function at the RNA level The presentation of the disease is consistent with myotonic dystrophy (DM1)

A 33-year old man begins to suffer from poor vision due to cataracts. For many years he has suffered from weaknesses of facial muscles resulting in ptosis and a persistently open mouth. He also has a longer than average head shape and frontal balding. What is the underlying etiological genetic mechanism of his disease?

Ataxia Telangiectasia

A 34 year old female comes into the clinic with complaints of a gait abnormality. Physical exam demonstrated dilated vessels in her eyes. Workup was consistent with a chromosomal instability syndrome. You determine the diagnosis to be:

Hypotension- low bp when you get out of bed to pee

A 43-year-old patient is recovering from abdominal surgery and develops post-operative urinary retention. Bethanechol was given to treat this condition. Which of the following adverse effects is most likely expected because of this medication?

Explain the potential risks of leaving the hospital without further evaluation. (This is a question about the capacity of the patient to make his own decisions. Of the response options presented, this is the only one that offers an opportunity to assess whether the patient is capable of understanding the risks of leaving the hospital without further tests. Even though the stem does not provide information about how the patient responds to the physician's explanation, it is still sufficient to demostrate that the student recognizes the importance of having the physician perform this assessment.)

A 27-year-old man is brough to the emergency department by his wife after vomiting at a party. The patient admits to drinking 4 glasses of wine and some vodka, but says he feels better now. Temperature is 37.8 C (100 F), blood pressure is 100/50 mm Hg, pulse is 106/minute, and respirations are 14/minute. Physical examination is remarkable for blood-tinged vomitus on the patient's shirt and shoes. Abdominal examination reveals epigastric tenderness on palpation. On mental status examination, the patient is alert, cooperative and fully oriented. Blood alcohol level is 70 mg/dL (0.07% blood alcohol content). The physician recommends laboratory evaluation, including complete blood count, comprehensive metabolic panel, amylase and lipase. The patient insists he is fine and wants to go home. Which of the following is the most appropriate course of action?

Labetalol

A 27-year-old pregnant woman with hypertension and paroxysmal supraventricular tachycardia is initiated therapy with a mixed adrenergic antagonist that blocks alpha1-, beta1- and beta2-adrenoceptors. This drug is most likely to be:

Evidence of invasion of surrounding tissue (In general, the diagnosis of malignant neoplasms of the endocrine system requires documentation of invasion or metastases. Cellular features such as pleomorphism and mitotic figures do not consistently predict malignancy in endocrine neoplasms.)

A 27-year-old woman presents to a clinic with persistent headache and amenorrhea. The size of her foot was increased by 0.5 cm for 6 months and lower jaw protrusion and bitemporal hemianopsia (a loss of vision in half the visual field) was observed. On admission swelling of superciliary arch, hypertrophy of nose and lip, macroglossia, lower jaw protrusion, enlargement of the palm are observed. Laboratory examination of her blood reveals increased levels of GH and IGF-1. In brain magnetic resonance imaging, there is a mass (51 × 34 × 22 mm) around pituitary fossa, pressuring on optic chiasm from the middle. The pathologist evaluating the tumor must identify which of the following conditions to reliably diagnose the mass as malignant?

Microfilaments

A 28-year old female suffered a miscarriage at 5-month gestation. She is seeking genetic counselling to understand the cause of death of her child. Histopathological studies revealed abnormally shaped cells from various tissues. EM examination show decreased density of terminal web, abnormal core of microvilli and fewer cytoskeletal tracks for myosin motor proteins. Which of the following cellular fibers is most likely affected?

1 Barr Body XXY 2X-1 = X

A 29-year-old male has been unable to conceive children with his wife. A physical exam reveals that he is 6'5" tall, has broad hips, gynecomastia and very little body hair. After a karyotype analysis he is diagnosed with Klinefelter syndrome. How many Barr Bodies would be observed in his cells?

-RB The RB gene is a classic example of the two-hit mechanism for loss of tumor suppression. About 60% of these tumors are sporadic, whereas the rest are familial from inheritance of a mutated copy of the RB gene. Loss of the second copy in retinoblasts leads to the occurrence of retnoblastoma in childhood.

A 3-year-old child has exhibited difficulty with vision in her right eye. On physical examination, there is leukocoria of the right eye, consistent with a mass in the posterior chamber. MR imaging shows a mass that nearly fills the globe. The child undergoes enucleation of the right eye. Molecular analysis of the neoplastic cells indicates absence of both copies of a gene that contributes to control of the cell cycle. Which of the following genes has most likely undergone mutation in this neoplasm?

VHL The von Hippel-Lindau (VHL) gene acts as a tumor suppressor, and it normally produces a protein that binds to hypoxia-inducible factor 1-alpha so that it is cleared. VHL mutation leads to loss of this binding protein and activation of angiogenesis factors.

A 30-year-old man has a pheochromocytoma of the left adrenal gland; a sibling had a cerebellar hemangioblastoma. He undergoes adrenalectomy, and on microscopic examination there is extensive vascularity of the neoplasm. Mutational analysis of the neoplastic cells shows that a gene is mutant, so that a protein that binds to hypoxia-inducible factor 1-alpha is no longer ubiquitinated, but instead translocates to the nucleus and activates transcription of VEGF. Which of the following genes is most likely mutated in this man?

Decreased breakdown of β-catenin This patient suffers from familial adenomatous polyposis, one of the genetic colon cancer syndromes. In this disorder, patients have a germline loss of function mutation in the APC tumor suppressor gene, which usually functions to break down β-catenin, a protein involved in the signal cascade of APC.

A 32-year-old man presented with altered bowel habits, decreased appetite, intermittent per rectal bleed and increased flatulence for six months. On digital rectal examination, a polypoidal mass was felt at fingertip on posterior rectal wall approximately 6 cm from anal verge. On contrast enhanced computerized tomographic scan of abdomen showed a 4.6cm x 3.3cm x 4.3cm enhancing polypoidal mass in distal transverse colon. Rest of the colon had patchy nodular areas. On colonoscopy, polyps of more than 1cm size were seen over entire rectum up to anal canal. Splenic flexure, transverse colon, hepatic flexure, ascending colon and caecum also showed multiple polyps. Which of the following is the molecular mechanism causing his disease process?

Beta-2 agonist​

A 32-year-old woman with a history of asthma begins to have difficulty breathing. She has forgotten her inhaler and is brought to the emergency department, where she is noted to be in moderate respiratory distress. She is becoming anxious, because it is increasingly difficult for her to breathe. She is immediately given an inhalant treatment.

Adenoma- A discrete small mass such as that described is probably benign. Adenomas arise from epithelial surfaces. Though adenocarcinoma may arise from a colonic adenoma, such malignant lesions tend to be larger and more irregular, not capsulated. A choristoma is a benign mass composed of tissues not found at the site of origin. A sarcoma is a malignant neoplasm arising in mesenchymal tissues, not in epithelium. Leukemia is a blood cancer, not a solid tumor

A 35-year-old asymptomatic woman undergoes a yearly medical cheek-up. She does not smoke or drink alcohol, her BMI is 23, BP is 124/87 mmHg, HR is 98/min, RR 15/min, T 98F. Blood and urine tests are normal, but occult blood stool test is positive during. The patient is scheduled for a colonoscopy, which reveals a 1.2-cm, movable circumscribed mass on a short stalk is in the sigmoid colon. Histological examination of the mass shows that the mass is well differentiated and originates from epithelial tissue. Which of the following terms best describes this lesion?

Adenoma

A 35-year-old man complains of nipple discharge of 2 months duration. Physical examination reveals a milky discharge from both nipples. MRI shows an enlargement of the anterior pituitary. Which of the following is the most likely histologic diagnosis of this patient's pituitary tumor?

Decreased ventricular contractility, bronchial constriction, reduced sweating, and vasodilation.

A 35-year-old woman in whom multiple system atrophy was diagnosed had symptoms indicative of failure of sympathetic nerve activity. List expected findings resulting from failure of sympathetic nerve activity to the ventricle of the heart, bronchial smooth muscle, sweat glands, and blood vessels.

Alpha-1 mediated vasoconstriction

A 35-yr-old man was dizzy after a surgical operation. His blood pressure was 70 / 50 mm Hg. He was given head-down tilt position and administered phenylephrine. The therapeutic effect of the phenylephrine is due to

Alpha-1 mediated vasoconstriction alpha 1 gets the constriction going to increase BP

A 35-yr-old man was dizzy after a surgical operation. His blood pressure was 70 / 50 mm Hg. He was given head-down tilt position and administered phenylephrine. The therapeutic effect of the phenylephrine is due to

Inhibition of acetylcholine release

A 37-year-old woman has blurred, double vision 8 hours after eating home-preserved peppers. Six hours later, she has dysphagia, dry mouth and eyes, progressive weakness of the arms and legs, and urinary retention. She is awake and alert. Which of the following is the most likely mechanism of these adverse effects?

Dystrophic calcification

A 38-year-old man has a health screening examination. He has a routine chest x-ray that shows a 2 cm nodule in the right lower lobe. The nodule has focal calcifications. A wedge resection of the nodule is done. On microscopic examination the nodule shows caseous necrosis and calcification. Which of the following processes explains the appearance of the calcium deposition:

A selective serotonin reuptake inhibitor

A 38-year-old woman was referred to a psychiatrist after telling her primary care physician that she had difficulty sleeping (awakening at 4 am frequently for the past few months) and a lack of appetite causing a weight loss of over 20 lbs. She also said she no longer enjoyed going out with her friends or doing volunteer service for underprivileged children. What type of drug is her doctor most likely to suggest as an initial step in her therapy?

One HTT allele with an expanded CAG repeat Huntington's disease

A 39-year-old male was brought to the clinic by his partner because of dramatic personality changes over the last several months. He first became irritable, then forgetful and was becoming paranoid about his job status. A physical exam noted facial grimacing and involuntary rapid twitching and jerking movements of the extremities. A CT scan revealed atrophy of the caudate nuclei. His condition is most likely due to

Alpha-1 mediated increase in blood pressure

A 39-yr-old man in cardiac arrest due to drug intoxication was administered an appropriate dose of epinephrine. The therapeutic effect of the epinephrine is/are

Alpha-1 mediated increase in blood pressure EP A Nephrine BP goes up

A 39-yr-old man in cardiac arrest due to drug intoxication was administered an appropriate dose of epinephrine. The therapeutic effect of the epinephrine is/are

Maxillary

A 4-year-old child is diagnosed with sinusitis. Which of the following sinuses is most likely affected?

A de novo X-autosome translocation disrupting the iduronate sulphatase (IDS) gene

A 4-year-old girl is referred to the pediatric outpatient clinic with a history of inability to grasp objects and coarse facial features. On examination you find organomegaly but no corneal clouding. Both parents are in good health and there is no family history of any related disorder. Given the clinical findings, you suspect that the child is suffering from a lysosomal storage disorder and order the relevant tests. Enzyme assays reveal that iduronate sulphatase is absent, all other lysosomal enzymes are present within normal range. All other patients you have seen with this deficiency have been male; how could you explain this diagnosis in a girl?

Amplification of Her2Neu receptor (•8-14 chromosomal translocation - Burkitt lymphoma •MSH1 gene - HNPCC •Rb protein dephosphorylation - activation of Rb •p53 phosphorylation blocks Mdm2 binding -> p53 accumulates -> Active p53 -> transcription of p21 -> P21 inhibits CDKs and makes them inactive and stops progression)

A 40-year-old woman presents for the evaluation of a left-sided breast lump. Her family history is unremarkable for breast cancer. Physical examination is notable for a 2 cm lump in the left breast. A biopsy shows invasive ductal carcinoma. What genetic factors may have been involved in this patient's risk for developing breast cancer?

MRI

A 41-year-old male presents to the office because of 2-week duration of his back pain. It started suddenly when he lifted a heavy object in his garden. Now the pain is radiating to his right big toe and he also experiences weakness and numbness in his right leg. The PE supports your provisional diagnosis of slipped disc most likely in lumbar spine. Because of the neurological findings of weakness and numbness you decide to perform additional test to evaluate the nerve root that is most likely compressed. What is the best diagnostic test to evaluate the disc and soft tissue in this patient's condition?

L2-L4 Patellar

A 42-year-old patient with acute pain in his lower back undergoes neurological examination. His knee reflex on the right side is diminished. You may assume a radiculopathy at what vertebral level?

"Would it be ok with you if we talk now about your use of alcohol?"

A 43-year-old recently divorced female reports that she lost her job last month. She presents with stomach concerns. Which physician response targets a primary risk factor for patient:

Nuclear pyknosis

A 45-year-old man has a traumatic injury to his forearm and incurs extensive blood loss. On physical examination in the emergency department his blood pressure is 70/30 mm Hg. Which of the following cellular changes is most likely to represent irreversible cellular injury as a result of this injury?

Chemical

A 47-year-old obese lady has been recently diagnosed with a gastric ulcer is prescribed an appropriate treatment regimen includes calcium cabonate 'as needed', in order to neutralize (antagonize) the effects of the hydrochloric acid secreted by gastric parietal cells. Which of the following terms best defines this acid-antacid antagonism?

Fatty change

A 48-year-old man has a history of chronic alcohol abuse. He is still able to perform work at his job. He has had no major illnesses. On physical examination, there are no significant findings. Laboratory studies show a serum albumin of 4.1 g/dL, ALT 30 U/L, AST 33 U/L, and total bilirubin 1.1 mg/dL. Which of the following microscopic findings in his liver is most likely to be present?

-Reciprocal translocation -Reciprocal translocations occur when part of one chromosome is exchanged with another. Reciprocal translocations are usually balanced and so may not have apparent functional implications. However, they can become unbalanced in the parents' offspring if the pair of chromosomes where genetic material has been exchanged is not inherited together.

A 48-year-old man has come to the clinic with splenomegaly. Blood studies show elevated blood cell counts, and peripheral blood smears show a spectrum of cell forms ranging from mature polymorphonuclear neutrophils to immature blasts. Bone marrow findings show the presence of the Philadelphia chromosome. What mechanism is most likely responsible for the patient's disease?

Apoptosis

A 48-year-old woman has a malignant lymphoma involving lymph nodes in the para-aortic region. She is treated with a chemotherapeutic agent which results in the loss of individual neoplastic cells through fragmentation of individual cell nuclei and cytoplasm. Over the next 2 months, the lymphoma decreases in size, as documented on abdominal CT scans. By which of the following mechanisms has her neoplasm primarily responded to therapy?

Increased lipofuscin granule content

A 5-month old baby is brought to the pediatrician after her parents noticed that she has gradually lost the ability to crawl and move. Following a series of examinations, she is diagnosed with Tay-Sachs, a type of lysosomal storage disease affecting neurons. Lysosomes in patients with this condition contain hydrolytic enzymes that are unable to breakdown glycolipids. Histopathological analysis of the affected neurons would most likely reveal:

The paternal chromosome has a maternal imprinting pattern Prader-Willi Syndrome Lack of paternal contribution of 15q11-13 important genes: SNRPN, HB Genes

A 5-year-old boy is brought to the clinic by his parents. He has an insatiable appetite, and his parents have difficulty controlling his eating. The parents relate that the boy is in a special education program at school and often has temper outbursts. A physical exam reveals that he is obese, has short stature, almond-shaped eyes and his skin and hair are very light-colored. Which of the following is a potential cause of the boy's condition?

Fragile X syndrome enlarged Texticles, X long faces

A 5-year-old boy with intellectual disability is brought to the city from a rural community for evaluation. A careful history reveals intellectual disability in several other family members, especially the males. Physical examination is remarkable for long face with large ears, a large jaw, and bilateral enlargement of the testes. He is found to have a trinucleotide repeat expansion of 400 CGG repeats. What is the most likely diagnosis?

at 4+years should have 1) copy a cross and a circle 2) hop on one foot 3) speech 90% intelligible 4) play cooperatively with other children 5) dresses without help this story delayed language, everything else normal

A 50-month-old girl named Elisa walks into the pediatrician's office in front of her mom and steps up the 3 steps to the doctor's examining table without help. When the doctor asks her name, she says "Esa" and then she says "my baby" when pointing to her own doll. She can repeat the numbers "One, two" after the doctor says them. She is able to copy a circle, and a cross after the doctor draws them. Her mom reports that she brushes her teeth and dresses herself but cannot tie her shoelaces yet. Her speech is about 50% intelligible. She is not concerned when her mom leaves the room for a short while and says "Mama bye-bye" to the physician

Oliguria and hyponatremia A paraneoplastic hormone syndrome that occurs commonly with small cell carcinoma of lung is the syndrome of inappropriate antidiuretic hormone.

A 51-year-old man who has smoked two packs of cigarettes a day for more than 30 years presents with recent weight gain and is found to have a lung mass on a chest x-ray. Laboratory examination reveals increased serum levels of vasopressin (ADH), and the diagnosis of SIADH is made. Which of the following laboratory findings is most consistent with this diagnosis?

Sympathetic post-synaptic motor

A 53-year old male was found dead for unknown reasons. He had a long history of undiagnosed neurological deficits. The family requested an autopsy be performed. Histopathological examination of peripheral nervous tissue revealed elevated lipofuscin granules within ganglionic neurons (see images below). Which of the following cell types was most likely causing this patient's condition?

Decreased flow of luminal fluids

A 53-year-old man with a history of breathing abnormalities is being evaluated for Kartagener syndrome. This condition can result from a mutated structures within cilia. Which of the following functional deficits is most likely causing this patient's symptoms?

Take the patient to surgery The question provides ample evidence that the patient is trying to end his life. In a situation like this, the patient would be considered incapable of making his own decisions, at least for the short term. The patient needs immediate treatment to safe his life, and it is appropriate to provide it.; If more time were available, it would be ideal to identify the appropriate decision maker - whether that was someone the patient appointed or his next of kin - and inform them of the situation. However, given the urgency of the situation and the fact that the patient was suicidal, it is appropriate to take him immediately to surgery.

A 54-year-old man is brought to the hospital emergency department (ED) following a single vehicle motor vehicle crash. The police report indicates that the car ran straight into a large tree with no evidence of any attempt swerve or brake. The patient has multiple injuries but is conscious and able to talk. The ED physician informs the patient that he needs immediate surgery to save his life, to which the patient responds "I don't want surgery or any other treatment. I don't want to live anymore so just let me die." Which of the following describes the physician's most appropriate next step?

Polycyclic aromatic hydrocarbons

A 54-year-old woman presents with a 5-month history of increasing weight loss, wheezing, shortness of breath, and dry cough. She has smoked two packs of cigarettes a day for 30 years. Her past medical history is significant for COPD. A chest X-ray shows a 9-cm mass in the right lung. Which of the following potent carcinogenic agents was most likely involved in the pathogenesis of lung cancer in the patient?

Irreversible inhibition of cholinesterase

A 55-year-old farmer, brought unconscious to the emergency department, was salivating profusely and was incontinent regarding both urine and feces. His skin was warm and moist, pupils were pinpoint in size, and respiration was shallow. The attending physician suspected organophosphate compound poisoning based on history provided by the attendants. The toxic effect of this organophosphate compound is most likely mediated aka brought about by which of the following molecular events?

Irreversible inhibition of cholinesterase

A 55-year-old farmer, brought unconscious to the emergency department, was salivating profusely and was incontinent regarding both urine and feces. His skin was warm and moist, pupils were pinpoint in size, and respiration was shallow. The attending physician suspected organophosphate compound poisoning based on history provided by the attendants. The toxic effect of this organophosphate compound is most likely mediated by which of the following molecular events?

Oxaloacetate

A 56-year-old chronic alcoholic has been brought to the emergency room in a semiconscious state. Blood biochemistry reveals hypoglycemia with a blood glucose level of 45 mg/dL. Which of the following intermediates of TCA cycle can be directly converted to phosphoenolpyruvate to trigger the pathway of gluconeogenesis?

dobutamine

A 56-year-old male is admitted with pneumonia and severe shortness of breath. Because of his rapidly deteriorating circulatory situation, he is admitted to the ICU with a preliminary diagnosis of pneumonia and acute cardiac failure. Among a panel of other interventions, the patient is put on a continuous intravenous infusion with a drug that, is sympathomimetic with predominantly beta1- agonist effects. This drug chosen is:

poisoning with an organophosphorus compound

A 57-year-old man is brought into the ER in a very distressed state after an emergency call from the police who found him collapsed in the country; No history was obtainable as the patient had a reduced level of consciousness. The patient was audibly wheezing and in respiratory distress. There was evidence of considerable salivation. His pupils were miotic. The skin was very sweaty but not excessively warm. The abdominal examination was remarkable in that bowel contractility was clearly visible and audible as loud borborygmi. Fasciculations were readily visible. The most likely cause for the patient's condition is:

M2 in SA node cells

A 57-year-old woman was admitted to the intensive care unit with a myocardial infarction. Four hours after admission the ECG indicated severe sinus bradycardia and an IV injection of a medication was given to increase heart rate. The blockade of which of the following receptors most likely mediated therapeutic effect of the drug in this patient?

Miosis

A 58-year-old man undergoes radiotherapy to treat a tumor in his neck. A side effect of his treatment is the development of salivary gland hypofunction, with associated dry mouth. Pilocarpine was used to treat this patient's condition. Which of the following side effects of the drug might be expected in this patient?

One tenth of A-

A buffer pair (HA/A-) has a pK of 6.4. At a blood pH of 7.4, the concentration of HA is

Miosis aka constriction

A 58-year-old man undergoes radiotherapy to treat a tumor in his neck. A side effect of his treatment is the development of salivary gland hypofunction, with associated dry mouth. Pilocarpine was used to treat this patient's condition. Which of the following side effects of the drug might be expected in this patient?

Pilocarpine

A 58-year-old man undergoes radiotherapy to treat a tumor in his neck. He developed salivary gland hypofunction, with associated dry mouth following radiotherapy. A drug that could be used to treat this patient's condition is:

Vesicular monoamine transporter (VMAT)

A 58-year-old man with severe hypertension who has not achieved his therapeutic goal for controlling his blood pressure after treatment with a combination of 4 different antihypertensive drugs for the past 6 months. Having exhausted the list of the most highly recommended drugs, his physician adds reserpine to his drug regimen, since it has a unique mechanism of action, and remains as a therapeutic option. The molecular target for this antihypertensive drug is inhibition of:

Carcinoma in situ?

A 59-year-old multiparous, postmenopausal woman presents for a gynecologic examination. Her Pap smear revealed features of atypical squamous cells. Molecular tests for human papillomavirus in the tumor cells are positive. A cervical biopsy was performed, which on histological examination showed dysplastic squamous cells occupying the entire thickness of the cervical epithelium, with no evidence of epithelial maturation. The basal membrane in these areas appears intact. Which of the following terms best describes these histological findings?

Desmosomes

A 6-month old child is taken to the dermatologist after his parents noticed an increased number of unexplained bruises and recurrent skin swelling and blisters. Studies reveal the child suffers from a genetic condition where epithelial cells exhibit decreased keratin content. Which of the following cell junctions would be most affected as a result of his condition?

Language, Gross Motor, Social/Attachment, Adaptive Fine Motor all are normal

A 6-month-old female baby is seen in the clinic. She is carried into the room by her father and seems aware of the strange situation. She gives a social smile to the doctor, and she allows the physician to hold her. When she is put on the examining table, she sits steadily while leaning forward on her hands, but rolls forward when the doctor moves her hands. She reaches out and grabs the doctor's stethoscope and then grasps her own rattle and shakes it. She responds to her hearing her name and starts to babble.

Deletion of 15q11-13 on the maternal chromosome UBE3A •Severe Intellectual Disability (Mental Retardation) •Seizures •Spasticity •Happy demeanor •Hyperactivity Angelman Syndrome (AS)

A 6-year-old girl with severe speech and intellectual disability has been late to reach developmental milestones. She has microcephaly and frequent seizures. She is tremulous and has difficulty walking on her own. She exhibits frequent smiling and laughing, and hand-flapping movements. Which of the following is a potential cause of her condition?

Muscarinic cholinergic agonists

A 60-year-old male comes to your clinic complaining of abdominal pain and difficulty urinating. After the patient urinates, an ultrasound examination of the urinary bladder demonstrates significant urine retention (>500 ml). What category of drugs might promote more complete bladder emptying?

-Telomerase -Chromosomal telomere shortening in normal human cells limits their replicative potential and gives rise to replicative senescence. This occurs because most somatic cells lack the enzyme telomerase. Normal human stem cells do express telomerase.

A 60-year-old woman presented to her family physician in the summer with a dark pigmented lesion on the crown of her scalp. The lesion had been present for at least 10 years, but recently her hairdresser noted that it had been changing and bled with minimal trauma. An excisional biopsy of the lesion was performed, and pathology showed an ulcerated malignant melanoma. Melanoma cancer cells were found to have a few mutations, one of which was associated with relative immortality of the cells. Which of the following molecular components is most likely to be responsible for these features?

Seizure

A 60-year-old woman stiffened every muscle and becomes unconscious at work 10 sec after her right hand began twitching rhythmically. After about 15 secs, she became incontinent and her arms and legs began jerking rhythmically. She was then still, unresponsive, and unconscious for about 3 min. Upon arrival emergency personnel notes she is now breathing deeply but remains unresponsive. What is the most likely diagnosis?

Beta-2 mediated bronchodilation

A 60-yr-old man was administered an appropriate dose of albuterol for bronchial asthma. The therapeutic effect of the albuterol is

Beta-2 mediated bronchodilation Beta 2 for alButerol

A 60-yr-old man was administered an appropriate dose of albuterol for bronchial asthma. The therapeutic effect of the albuterol is

Beta and alpha blocker

A 60-yr-old man with hypertension and cardiac failure was administered carvedilol. The therapeutic effect of the carvedilol is due to

negative feedback​

A 62-year-old woman eats a high-carbohydrate meal. Her plasma glucose concentration rises, and this results in increased secretion from the pancreatic islet cells. The insulin response is an example of which of the following?​

Parkinsonism

A 66-year-old man presents with a new-onset tremor in his right hand that worsens when he is sitting down watching television. He also experiences difficulty walking, and his friends complain that he has not been able to keep up with them on the golf course. His wife has noticed that he does not seem to get excited about anything. What is the most likely diagnosis?

Alpha-1 mediated vasoconstriction and beta-2 mediated bronchodilation

A 70-yr-old male was stung by a bee 10 min ago. He was in anaphylactic shock. You administer an appropriate dose of epinephrine. The therapeutic effects of the drug are

Liquefactive necrosis

A 71-year-old woman had the loss of consciousness that persisted for over an hour. When she becomes arousable, she cannot speak nor move her right arm. A cerebral angiogram revealed an occlusion to her left middle cerebral artery. Months later, a computed tomographic (CT) scan shows a large 5 cm cystic area in her left parietal lobe cortex. This CT finding is most likely the consequence of resolution from which of the following cellular events?

The daughter. Of the family members listed in the question, the highest on the list would be the adult children of the patient - that is, the daughter and the son. However, the son is intellectually disabled and - as a ward of the state - cannot make decisions for; himself let alone anyone else.; Thus, the daughter is the legal decision maker.

A 74-year-old woman has been diagnosed with end-stage ovarian cancer. She is no longer able to make her own decisions. She does not have a court-appointed guardian and has not designated a surrogate decision maker. Her family includes the following members: a 50-year-old daughter who lives in Europe; a 57-year-old son who is intellectually disabled and lives in a group home as a ward of the state; a younger brother who lives in the same town; and a 27-year-old granddaughter who is a 3rd year law student at Harvard Law School. Which of the following would be the patient's legally designated decision maker?

α1 Gq

A 76-year-old man with a history of prostatic hypertrophy comes to his physician because of recent onset of increased difficulty urinating. Previously the patient has been well maintained with standard pharmacotherapy for his condition. On questioning he states that symptoms of urinary difficulty began shortly after he started taking a nasal decongestant orally for cold symptoms. Which of the following types of receptors is most likely to be involved in this adverse effect?

The highest incidence of stomach cancer occurs in Japan

A 76-year-old woman was seen in a multidisciplinary gastrointestinal oncology clinic for further management of an adenocarcinoma of the body of the stomach. Which country of the world has the highest incidence of this malignant neoplasm

Heat exhaustion​

A 78-year-old male is gardening outside on a hot day. After a while, the man is thirsty, fatigued, profusely sweating and dizzy. He manages to go inside his home and call his daughter who reaches her father's house right before he faints. What has likely happened to this individual? ​

Sacral spinal cord

A 78-year-old male patient complains of urinary incontinence since his prostatectomy surgery last year. The physician suggests the iatrogenic lesion of the parasympathetic nerves supplying the smooth muscles in the wall of the urinary bladder. Where do these nerves take their origin?

Elevated lactate

A 79-year-old man has a large myocardial infarction involving much of the left ventricular free wall. He develops congestive heart failure (CHF) with decreased cardiac output. Now, a year later, his CHF is worsening. By echocardiography there is a large, bulging akinetic area typical for a left ventricular aneurysm. Which of the following laboratory tests on serum would best indicate poor peripheral tissue perfusion in this patient?

Signal transduction

A 79-year-old woman suffering from heart failure started a therapy with digoxin, a drug that increases contractility of the heart. Which of the following best defines the molecular event initiated by drug-receptor binding and ending with the therapeutic effect in this patient?

leiomyoma- mesenchymal

A benign smooth muscle tumor, usually in the uterus or gastrointestinal tract. Also called fibroid.

2-way ANOVA

A botanist wants to explore how sunlight exposure and watering frequency affect plant growth. She plants 40 seeds and lets them grow for two months under different conditions for sunlight exposure and watering frequency. After two months, she records the height of each plant. Which statistical test should she use to evaluate the data?

Simple columnar epithelium.

A brush border of microvilli, specialized for the active transport of small molecules across the cell membrane, is typically found in which type of epithelium?

Left ventricle

A cardiac catheter introduced via the femoral artery will eventually reach which of the following chambers of the heart?

Stratification

A case-control study is conducted to assess the association between alcohol consumption and lung cancer. 100 patients with lung cancer and 100 controls are asked about their past alcohol consumption. According to the study results, alcohol consumption is strongly associated with lung cancer (OR = 2.5). The researchers then divide the study subjects into two groups (see tables). This type of analysis is an example of:

Confounding Bias

A case-control study is conducted to assess the association between alcohol consumption and lung cancer. 100 patients with lung cancer and 100 controls are asked about their past alcohol consumption. According to the study results, alcohol consumption is strongly associated with lung cancer (OR = 2.5). The researchers then divide the study subjects into two groups: smokers and non-smokers. Subsequent statistical analysis does not reveal any association between alcohol consumption and lung cancer within either group. The scenario described is an example of which of the following?

Uniparental isodisomy occurred with the offspring inheriting two mutant chromosomes from the carrier parent

A child is born with phenylketonuria (PKU). Genetic testing shows one parent is a carrier, and the other parent is homozygous normal. What is the most likely explanation for how these parents have a child affected by PKU?

24 months

A child walks unassisted into the waiting room, accompanied by her mother. She looks at the receptionist and says, "Hi." While holding her doll, the child turns to her mother and says "juice". The mother gives her a cup of juice, and the child says "doll" and tries to give the doll a drink. The mother shakes her head, and the child says "no." The child then points to her own mouth, smiles, and says "mouth." The mother takes a tissue to clean the doll's face; the child says "me" and begins to imitate her mother's action with another wipe. The child looks at her mother, says "ma ma," and gives her mother a hug.

Turner Syndrome

A chromosomal disorder in females in which either an X chromosome is missing, making the person XO instead of XX, or part of one X chromosome is deleted.

Alpha-1 receptors in radial muscle

A college student visits her ophthalmologist because she has been having difficulty reading lecture slides during class. To begin the eye exam, the ophthalmologist dilates her pupils by applying eye drops that contain a drug that will activate which of the following?

Muscarinic-3 receptors in sphincter muscle​

A college student visits her ophthalmologist because she has been having difficulty reading lecture slides during class. To begin the eye exam, the ophthalmologist dilates her pupils by applying eye drops that contain a drug that will block which of the following?

Reticular formation of the medulla

A concurrent increase in parasympathetic and decrease in sympathetic outflow to the heart would be coordinated at which level of the nervous system?

Karyotype

A display of a person's metaphase chromosomes

Genetic distance

A distance between two loci as measured by the frequency of recombination between the two loci

Physical distance

A distance between two loci as measured by the number of base pairs between the two loci

Cytochalasin

A drug that blocks the elongation of actin filaments

Paternal imprints

A father passes one of his maternal chromosomes onto his daughter and that chromosome is imprinted. In the daughter's somatic cells that chromosome will normally have...

46,XX,del(22)(q11.2)

A female with a deletion on the long arm of chromosome 22 at region 1, band 1, sub-band 2 DiGeorge Syndrome

46,XX,inv(9)(p11,q13)

A female with an inversion on chromosome 9 between bands p11 and q13 (a common, nonpathogenic, balanced inversion found in 1-3% of the population)

47, XX, +18

A female with trisomy 18 aka Edward's Syndrome

Only in individuals who inherit the mutant allele from their mothers

A gene mutation causing an autosomal dominant disease occurs in a paternally imprinted gene. In what circumstance will the disease manifest in an individual?

Maternal imprinting

A gene mutation results in a disease which has autosomal dominant inheritance. It is observed that the disease occurs only if the mutant allele is inherited from a father but never if it is inherited from a mother. Which of the following is the best explanation for this?

GPI anchor

A glycolipid containing phosphatidylinositol that anchors proteins to the external face of the plasma membrane.

Anticipation

A grandmother in the family is only slightly affected, Her daughter has more severe facial involvement, and occasional abnormal heart rhythms. Her grandson (her affected daughter's child) is severely affected, with very poor facial and skeletal muscle tone, cataracts, and abnormal heart rhythms.

Phase 2

A group of 100 healthy human subjects are randomized to receive a new oral drug for which safety has already been established, to determine the optimum dose at which the drug shows biological activity. Which of the following best describes the phase of this trial?

dolichol phosphate

A lipid molecule in the endoplasmic reticulum upon which oligosaccharides are assembled for the glycosylation of proteins.

If the mutation is on the active parental chromosome •If a disease-causing mutant allele is imprinted the disease will not be expressed •If the mutant allele is on the active chromosome, the disease will be expressed

A mutation in an imprinted gene will result in the presentation of a parent-of-origin dependent phenotype...

if the mutation is on the active parental chromosome

A mutation in an imprinted gene will result in the presentation of a parent-of-origin dependent phenotype...

Germline mutation

A mutation that can be passed on to offspring

Non-stop

A mutation that changes a codon encoding a stop codon into a codon encoding an amino acid

Spontaneous Mutation

A mutation that wasn't inherited but occurs in a person for the first time

weak acid drug want it to be protonated so that it is uncharged so want a pH that is less than pKA In this example 2.8 would be a good pH value

A newly designed drug is a weak acid with a pKa of 3.8. The drug enters cells via free diffusion through the membrane in its uncharged form. This will occur most readily at which of the following pH values?

Glycerol

A patient went on a 3-day "cleansing" fast but did continue to consume water and vitamins. What is this patient's source of fuel to maintain blood glucose levels under these conditions?

Dorsal root ganglion

A patient with cardiac disease has a pain in his left arm and forearm. Where do the visceral and somatic afferents most likely interact?

Metabolic Acidosis

A person was admitted in a coma. Analysis of the arterial blood gave the following values: PCO2= 30 mm Hg, HCO3-= 5 mmol/l and pH 7.2. What is the underlying acid-base disorder?

Left kidney

A physician can percuss over an area as outlined on the skeleton to detect tenderness at a particular organ in a patient. What specific organ is being percussed in the image?

Electrotonic conduction

A pool of presynaptic neurons innervate the dendrites of a postsynaptic neuron. Electrical signals are transferred from the dendrites to the soma of the postsynaptic neuron by which process?

AP site

A position in DNA where there is no base attached to the sugar of the backbone.

SH2 domain

A protein domain that binds phosphorylated tyrosine residues.

Recall Bias

A study is conducted to assess the relationship between the use of an over-the-counter pain reliever during pregnancy and the development of neural tube defects in offspring. Mothers whose children have neural tube defects and age-matched controls with unaffected children are interviewed using a standard questionnaire. The study shows that use of the pain reliever during pregnancy increases the risk of neural tube defects, even after adjusting for race, other medications, family history of congenital abnormalities and serum folate level OR = 1.3, p = 0.03. Which of the following biases is of greatest concern when interpreting the study results?

5/(2000-35) For incidence take new cases and divide by total population subtracting anybody who already has the disease from the total population INCIDENCE=NEW CASES

A study is looking to examine the number of new cases of a disease. In a community of 2,000, 35 have the disease. Between January 1, 2021 and September 3, 2021, there are 5 new cases What is the incidence

Uterine myometrium in pregnancy

A study is performed involving the microscopic analysis of tissues obtained from surgical procedures. Some of these tissues have the microscopic appearance of an increased cell size of multiple cells within the tissue, due to an increase in the amount of cell cytoplasm, with nuclei remaining uniform in size. Which of the following conditions is most likely to have resulted in this finding?

Partial Agonist

Ligand that activates a receptor to produce partial response

False

Ligand-binding to an ion channel can generate second messengers

Stereocilia.

Actin filaments are prominent in the core of:

Temporal summation- activating same neuron over and over sequentially

Activation of a single excitatory input to a motoneuron causes a subthreshold excitatory postsynaptic potential (EPSP). However, activating that single neuron causing five sequential excitatory inputs to the same motoneuron produces a suprathreshold EPSP. The change in effectiveness of the EPSP is due to which of the following?

alpha-ketoglutarate

a compound that participates in the formation of nonessential amino acids during transamination

Heterochromatin

All chromatin structure more condensed than the 30nm Fiber

Teratoma (

An 8-year-old girl presented with a complaint of dull aching pain in abdomen for 3-4 weeks. On abdominal examination, a well-defined lump, smooth, firm in consistency, and mobile, was felt corresponding to 16-18 weeks of gestation. Ultrasonography showed a cystic mass of size 9.30 cm × 5.87 cm in the pelvic region (? ovarian). The patient was taken for laparotomy. On opening the abdomen, a left ovarian cyst 8 cm in size with smooth surface was found. Histopathological examination of the specimen revealed uniloculated cyst with one tiny solid area, showed tuft of hair, bones and pultaceous material. What is the diagnosis?

Metastases to regional lymph nodes (Renal cell carcinoma) (The choice of surgical approach or treatment modalities is influenced more by the stage of a cancer than by its cytologic grade. The significant criteria used for staging vary with different organs. Commonly used criteria include (1) tumor size, (2) extent of local growth, (3) presence of lymph node metastases, and (4) presence of distant metastases.)

An 80-year-old man was admitted due to passing black stools associated with indigestion-type abdominal pain for weeks. He had a marked anemia, and shortness of breath. On admission, he had further melaena, and an urgent gastroscopy was performed, which revealed a polypoidal mass arising from anterior second part of duodenum. A contrast-enhanced CT of the abdomen/pelvis was requested and revealed an 8 cm mass arising from the lower pole of right kidney, with no fat plane to anatomically separate it from the duodenum, as what would be expected, indicating direct invasion into the duodenum. The patient was diagnosed with renal cell carcinoma. Which of the following is the most important staging factor for this patient?

Brain swelling due to increased fluid in ICF

An 82-year-old woman was transported to the emergency department from her nursing home because her complaining of a headache, fatigue and of a change in her mental state over the past few hours. She has a medical history of diabetes and hypertension. On examination, she has decreased skin turgor, depressed reflexes, and disorientation to time, place, and person

Lipochrome from 'wear and tear'

An 84-year-old man dies from complications of Alzheimer disease. At autopsy, his heart is small (250 gm) and dark brown on sectioning. Microscopically, there is light brown perinuclear pigment with H&E staining of the cardiac muscle fibers. Which of the following substances is most likely increased in the myocardial fibers to produce this appearance of his heart?

G6PD deficiency anemia

An X-linked recessive disease that ↑ RBC sensitivity to oxidative stress.

Have decreased lactate levels in blood drawn from her forearm

An adolescent patient with a deficiency of muscle phosphorylase was examined while exercising her forearm by squeezing a rubber ball. Compared with a normal person performing the same exercise, this patient would exhibit which one of the following?

1) The mutated gene is paternally expressed 2) The mutated gene is maternally imprinted

An autosomal dominant disease has a parent-of-origin specific inheritance pattern. It only manifests in individuals when the disease-causing mutation is inherited from a father. What is the explanation for this?

Secretory vesicles and mitochondria

An axon terminal is characterized by:

Receptor tyrosine kinase, amplified or overexpressed in 20-30% breast carcinomas

ERBB2/HER2

Row A ECF will have increased osmolarity as well as increased sodium concentration

Antidiuretic hormone (ADH) regulates water retention by acting to increase water reabsorption in the kidneys. If the ADH receptors are antagonized, what effect will this have on extracellular fluid osmolarity and extracellular fluid Na+ concentration?​

decreases

As the distance between loci decreases, how does the recombination frequency between loci change.

I-cell disease

disease caused by inability to process and eliminate glycolipids and glycoproteins

Hawthorne Effect: Solution: Control group; ensuring confidentiality/anonymity; blinding

Asking leading questions: "How often do you drink at very dangerous levels?" -Subject's behavior is altered because they are aware they are being observed; e.g., food diaries; self-report of alcohol/drug/sexual behaviors; behavior in classrooms

S2- the level of the S2 vertebra.

At what vertebral level does the subarachnoid space terminate?

L3-L4 Whatever is below L2 is safe Intercristal line above iliac crest

At what vertebral level the manipulations on the vertebral canal are considered safe?

Spinocerebellar Ataxia: paternal Huntington Disease: paternal

disease examples of paternal expansion bias

Dilated Cardiomyopathy

disease of the heart muscle that causes the heart to become enlarged and to pump less strongly

Inside- 1.Tertiary bronchi 2.Pulmonary artery Outside- 1. Intersegmental veins 2. Connective tissue 3. Bronchial vessels

Each Bronchopulmonary Segment contains

Autosomal Recessive Enzymes of Tetrahydrobiopterin synthesis Enzymes of Tetrahydrobiopterin recycling

BH4 Deficiency

greater than systolic 140 greater than diastolic 90

BP stage 2 hypertension

breast cancer DNA repair mutation - Can't repair DNA damage of breast ductal cells

BRCA-1/BRCA-2

breast, ovarian - younger females with family history

BRCA1, BRCA2 mutations

•adenomas. Patients with a prolactin-secreting pituitary adenoma present with amenorrhea and galactorrhea. Ectopic islands of normal tissue are called choristomas (choice B). Fibroma - benign tumor, originating from fibrous tissue, not hormone-secreting (choice C). Melanoma - malignant skin tumor (choice D). Benign tumors that arise from germ cells and contain all three germ layers are termed teratomas (choice E).

Benign tumors arising from a glandular epithelium are termed?

Teratomas

Benign tumors that arise from germ cells and contain all three germ layers

Parkinson's disease Acute dystonia

Benztropine, trihexyphenidyl are atropine like drugs used in the treatment of

B1 deficiency

Beriberi and Wernicke-Korsakoff syndrome alcoholism consuming polished rice

rhabdomyosarcoma stains positive for desmin ( desmin always in sarcoma)

Cancer that forms in the soft tissues in a type of muscle called striated muscle.

cervical cancer

Cancer that forms in tissues of the cervix (the organ connecting the uterus and vagina). It is usually a slow-growing cancer that may not have symptoms but can be found with regular Pap tests (a procedure in which cells are scraped from the cervix and looked at under a microscope). Cervical cancer is almost always caused by human papillomavirus (HPV) infection.

desmoplastic

Causing or forming adhesions or fibrous connective tissue within a tumor

Rate of ATP utilization will increase.​

Certain tumor cells are known to have a plasma membrane Na+ channel that is activated by acidic extracellular pH. In these cells, if acid is added to the extracellular medium, which of the following would occur?​

NADPH oxidase deficiency

Chronic granulomatous disease which enzyme is implicated in this disorder

Simple cuboidal epithelium Note the round nuclei and square-shaped cells, indicative of cuboidal. A single layer of cells rests on the basement membrane.

Classify the epithelium in the image on the right:

stratified squamous epithelium

Classify the type of epithelium pictured in this slide. Be specific

Microglial cells

Clinical examinations revealed encephalitis (inflammation of the brain) due to an acquired infection of the West Nile virus. When neural tissue is damaged, which resident neuroglial cell is responsible for phagocytosing cellular debris?

C-MYC - Burkitt Lymphoma BcL-2 - follicular lymphoma

Common cancer mutations. Translocation with overexpression:

Many genes, each having a small additive effect

Common diseases such as coronary artery disease are thought to be due to:

Oculocutaneous Albinism

Complete lack of pigmentation Poor vision Avoidance of sunlight

Microtubules

Consider a cellular modification where you extend the cytoplasm to form a finger-like process. To perform its function this extension needs to be filled with a cytoskeletal fiber that is both dynamic (able to modify its length) and strong. Which cytoskeletal fiber should it contain?

The sibs of a female patient are at higher risk than those of a male patient

Consider you are giving genetic counselling for pyloric stenosis and you know that this disease is 4-5 times more common in newborn males than females. On which of the following statements would you like to base your advice?

organophosphate poisoning

Constricted Pupils, Diarrhea, urination, Muscle weakness, Bradycardia, Bronchospasm, Bronchorrhea, Emesis, Lacrimation, Sweating, Salivation, Seizures, GI cramping

Debranching enzyme deficiency

Cori's disease

Secondary Prevention

County-wide mammogram programs are being employed to identify people with breast cancer before symptoms present. What level of prevention is this?

Number of deaths from the disease/total population

Crude mortality rate

1) If cellular requirements are relatively high, complete loss-of-function of a single allele will cause expression to decrease below cellular requirements 2 Cellular requirements will not be met, and disease will occur, even if only a single allele is mutated §Therefore, the resulting disease will be dominant

Define Haploinsufficiency

-Chromosomes have multiple origins of replication: Eukaryotic -RNA primers are removed by an endonuclease: Eukaryotic -Replication occurs only after the cell has passed the G1/S checkpoint: Eukaryotic

DNA replication prokaryotic or eukaryotic replication or both

-RNA primers are removed by a DNA polymerase: Prokaryotic -Chromosomes have a single origin of replication: Prokaryotic

DNA replication prokaryotic or eukaryotic replication or both

Require the function of topoisomerases: Both Require the function of ligases: Both

DNA replication prokaryotic or eukaryotic replication or both

inhibits glycolysis stimulates gluconeogenesis

Decrease F26BP Bisphosphate activity

G6PD deficiency

Decreased production of NADPH

Zellweger syndrome

Defective peroxisome biogenesis = defective proxisomal oxidation. Inability to breakdown LC FAs due to peroxisome defect. FAs are cut short and sent to mitochondria. hepatomegaly, Mental Retardation, Infantile death. Severe

1) If cellular requirements are relatively low, even if there is complete loss-of-function in one allele, the expression from the remaining allele is still adequate to meet cellular requirements 2) Cellular requirements will not be met, and disease will occur, only when both alleles are mutated 3) Therefore, the resulting disease will be recessive

Define Haplosufficiency

A 6-year-old girl with severe speech and intellectual disability has been late to reach developmental milestones. She has microcephaly and frequent seizures. She is tremulous and has difficulty walking on her own. She exhibits frequent smiling and laughing, and hand-flapping movements. Which of the following is a potential cause of her condition? Angelman Syndrome

Deletion of 15q11-13 on the maternal chromosome Severe Intellectual Disability (Mental Retardation)• Seizures• Spasticity Important genes UBE3A

Histologic sections from malignant neoplasms are frequently assessed with a panel of immunostains to detect antigenic characteristics, such as protein expression, to aid in characterizing the cell of origin, as well as provide information in selection of treatment protocols. (In this case, the immunostains are likely to reveal that this neoplasm is a high-grade urothelial carcinoma. A cytology smear shows light microscopic findings helpful to screen for malignancy, but the findings often fall short of diagnosing a specific cell type. The other listed techniques are best for determination of treatment and prognosis.)

Describe Immunohistochemistry

E6 and E7 acting on tumor suppressors -E6 - mediates the degradation of p53 5,6 -E7 - binds Retinoblastoma RB8 and displaces E2F leads progression through G1-S phase 7,8

Describe Oncogenic potential of HPV based on activities of two viral genes

•In X-linked diseases, in female carriers the mutant allele is commonly found on the inactive X chromosome, so is not expressed and has no effect on the phenotype. -Most X-linked diseases are therefore recessive

Describe Skewed/Nonrandom X Inactivation

•XIST X Inactivation Specific Transcript) -Encodes a functional noncoding RNA •No open reading frame - no encoded protein -Expressed from the inactive X chromosome •Increased expression at late blastocyst stage -XIST RNA spreads along the length of the inactive X chromosome -Mediates heterochromatin formation and inactivation

Describe X Inactivation Center (XIC) and XIST

•appox 1 week post-fertilization, in the late blastocyst stage, one X chromosome (either the paternal or maternal) is inactivated in each cell at random •As those cells divide, all daughter cells will maintain inactivation of the same X either paternal or maternal

Describe X Inactivation Process

can be gain of function- apoptosis suppressor OR Loss of function-- gene that causes apoptosis

Describe genes that regulate apoptosis

multifactorial traits are determined by the combined effected of many genes, each having a small additive effect, and environmental factors. Dominant and recessive refer to inheritance patterns, and don't apply to the etiology of multifactorial traits. Diseases caused by alterations of imprinting are quite rare in comparison to CAD.

Describe how coronary artery disease aka CAD is multifactorial

Angelman syndrome is caused by the lack of the maternal contribution of 15q11-13. Other than a deletion on the maternal chromosome, the possible molecular mechanisms are: paternal uniparental disomy, an imprinting defect that confers a paternal imprinting pattern to the maternal chromosome, or a loss-of-function mutation of UBE3A on the maternal chromosome. "Maternal UBE3A gene mutation" is the only answer choice which would cause a loss of the maternal contribution.

Describe the cause of Angelman syndrome

DNA Transcription

Describe the process occurring in the region indicated by the blue arrow. Be specific.

Growth inhibiting Loss of function 2 alleles mutated, generally recessive

Describe tumor suppressor genes

Pyloric stenosis is a multifactorial disorder. A common trend with multifactorial disorders is that if there is a difference in the incidence of the disorder between the genders, relatives of an affected individual of the less common gender will be at greater risk for the disease. In Pyloric stenosis females are the uncommon gender, thus the sibs of an affected female will be at greater risk compared to the sibs of an affected male.

Describe uncommon gender - EX; females pyloric stenosis, and how this relates to risk in siblings of an affected female v male

1) Tay-Sachs (GM2 Gangliosidosis, Type 1) •Mutations in HEXA 2.)Sandhoff (GM2 Gangliosidosis, Type 2) •Mutations in HEXB •Encodes the β subunit of hexosaminidase A (HexA) and hexosaminidase B (HexB) 3.Activator Deficiency (GM2 Gangliosidosis, AB Variant) Mutations in GM2A, Encodes the activator protein, Very rare

Diseases associated with a deficiency of the HexA enzyme

Paclitaxel (Taxol)

Which of these drugs binds to assembled microtubules and freezes them in place so that they cannot depolymerize?

because of head injury- decisions can be made by the medical professionals who are caring for her

Doyna Strobi is a 42-year-old woman who sustained a serious head injury in a building collapse. She is conscious and has asked to be allowed make her own health care decisions. The determination of her capacity to make these decisions:

can be made by the medical professionals who are caring for her

Doyna Strobi is a 42-year-old woman who sustained a serious head injury in a building collapse. She is conscious and has asked to be allowed make her own health care decisions. The determination of her capacity to make these decisions:

pick maternal meiosis I

if given no further info for chromosomal abnormality- nondisjunction

"I understand your concern and would like to help. No female physicians are available right now, but I will get someone as soon as possible. For now, would it be acceptable for a female nurse to get some information from you about what is going on?"

Dr. Geoff Aaron comes in and introduces himself, and then asks Mrs. Rahim to tell him what is going on. Mr. Rahim stands in front of his wife and says politely "We would prefer to see a female physician. Due to our cultural practices, it is not considered appropriate for my wife to be examined by a man." How should Dr. Aaron respond?

respecting the patient's wishes and acting in her best interests

Dr. Lorne Garrison is an obstetrician covering his friend Dr. Paula Kimber's practice while she is away on vacation. He has been called into the hospital to see one of Dr. Kimber's patients, Victoria Moore. However, when he goes to introduce himself to her, she becomes upset and angry telling him that she made it clear to Dr. Kimber that she did NOT want a male doctor under any circumstances. Dr. Garrison informs her that he is covering all of Dr. Kimber's patients in her absence but that, if she would prefer, he can ask one of the hospital's female attending obstetricians to attend her. He adds that he will stay in the hospital until the delivery is complete in case the other obstetrician has any concerns about Ms. Moore's care. She says she would prefer that, and he leaves to make the necessary arrangements.

Sigmoid colon

During surgery to repair the gastro-esophageal junction, the surgeon damaged both vagal trunks. Which part of the large bowel would be NOT affected in this patient?

1) The Ran-GTP binds tightly to the cargo-loaded Importin and causes it to release its cargo into the nucleoplasm 2) Ran-GTP remains bound to the unloaded Importin, and they migrate back out into the cytoplasm through specific interactions with some of the nucleoporins

During the process of nuclear import, a Ran-GTP encounters a cargo-loaded Importin, what happens next?

Lung adenocarcinoma

ERBB1- turned on

Trisomy 18

Edward syndrome is most commonly caused by _________.

47, XX, +18

Edward's Syndrome (female)

2 steps down 2 nuerons primary nueron- primary motor cortex secondary neuron- ventral horn of spinal cord

Efferent tracts - 2 steps down

HATs

Enzymes that acetylate histones and act as coactivators

HDACs

Enzymes that deacetylate histones and act as corepressors

Swi/SNF factors

Enzymes that use energy from ATP to remodel chromatin

Competitive antagonist

Epinephrine binds to alpha-1 receptors in blood vessels causing them to constrict and increase blood pressure. Doxazosin will bind to the same alpha-1 receptors but in the absence of epinephrine no change in vascular tone will occur. However, if epinephrine is added to a blood vessel preparation in which doxazosin has been added, a greater concentration of epinephrine will be required to produce the same level of vasoconstriction as in the absence of doxazosin. Which of the following terms best describes doxazosin in this setting?

intiative vs guilt

Erikson's Psychosocial Stage 3 is: age 3-5 years

integrity vs despair

Erikson's final stage in which those near the end of life look back and evaluate their lives Stage 8: 65 and older

percussion

Estimate the liver span by...

15 µm wide and ~ 21 µm tall. Nuclei: ~ 7 µm. Use red blood cells on right side of image as ruler.

Estimate the sizes of these cells and their nuclei.

constriction of the pupils. increased peristaltic activity in the gastrointestinal tract. decreased outflow of catecholamines from the adrenal medulla. constriction of the airways.

Exposure to a nerve agent that causes a build-up of acetylcholine at autonomic postganglionic synapses is likely to produce

increased heart rate.

Exposure to a nerve agent that causes a build-up of acetylcholine at autonomic postganglionic synapses is not likely to produce

high NADH/NAD+ ratio high ATP to ADP ratio

Factors inhibiting TCA cycle

look for greatest ratio difference between in and out, and this is the one that will win in this case it is in row A

Five drugs are listed in the following table (A-E). If these drug molecules are all equally lipophilic, which of the following conditions would produce the highest rate of transport of the drug molecule into a cell by simple diffusion?

B- Look for the one that has myelination and is thickest to be the fastes

Five hypothetical nerve axons are shown in the figure. Axons A and B are myelinated, whereas axons C, D, and E are non-myelinated. Which axon is most likely to have the fastest conduction velocity for an action potential?

Intercalating agents

Flat molecules that slip in between the bases of double-stranded DNA

N=1, C=2

Following Meiosis I, how many homologous chromosomes per cell, and how many sister chromatids per chromosome?

1) gain of function 2) dominant negative 3)Loss of function with haploinsufficiency

For each of the mutational mechanisms which occur in monogenic diseases, indicate the most common mode-of-inheritance of the resulting phenotype. DOMINANT

Loss of function with haplosufficiency

For each of the mutational mechanisms which occur in monogenic diseases, indicate the most common mode-of-inheritance of the resulting phenotype. RECESSIVE

Heterochromatin

Found at telomeres and centromeres during interphase

Heterochromatin

Found at the nuclear periphery during interphase

M2 in SA node cells

Four hours after admission the ECG indicated severe sinus bradycardia and an IV injection of a medication was given to increase heart rate. The blockade of which of the following receptors most likely mediated therapeutic effect of the drug in this patient?

CGG repeat almost tripe GGG with big balls

Fragile X Syndrome

•X-Linked dominant (semi-dominant) •CGG expansion in 5'-UTR of FMR1 •X chromosome: cytological fragile site

Fragile X Syndrome (FRAXA)

Southern Blotting- southern is bigger

Fragile X: which technique is preferred for measuring the size of the trinucleotide repeat sequence

If present, Na+K+2Cl- cotransporters would be activated to bring volume back to normal

Freshly isolated, normal human red blood cells were placed in a solution composed of 150 mM NaCl and 75 mM urea. Which of the following statements is TRUE regarding cell volume changes?​

Autosomal Recessive

Friedrich ataxia exhibits which mode of inheritance?

allostericaly activates PFK-1 in the presence of high ATP

Fructose-2,6-BP

Both are epidermal growth factor receptors. How do these lead to breast cancer? Turned on the whole time, excessive proliferation, permanently turning on the receptor. It is a RECEPTOR. Permanently turns on receptor. Its s a receptor tyrosine kinase...constant constitute activation of receptor tyrosine kinase.

Function of ERBB1, ERBB2

myelin sheath insulators eicosanoids- inflamatory mediator thermal insulator bile salts lipoproteins- proteins that help mobilize lipids

Functions of lipids

Friedrich Ataxia- GAAAA i dont wnat to pay a tax

GAA

Friedreich Ataxia

GAA repeat in an intron

Glucosylcerebroside

Gangliosides were given their name because they were lipids isolated from ganglion cells of the brain. More than 60 different gangliosides are known, and these are demonstrated to concentrate in membrane lipid rafts where they appear to function as cell markers and in cell signaling. Which of these compounds is closest in structure to GM1-ganglioside?

the ability to pass small metabolites, including some second messengers. the ability to pass electrical current bidirectionally the ability to pass electrical current unidirectionally. the ability to synchronize the activity of populations of nerve cells.

Gap junctions may exhibit all of the following features

glucocerebrosides accumulate in macrophages forming enlarged Gaucher cells

Gaucher disease

Pyrimidine Dimers

Generated by UV light

Double-strand breaks

Generated by ionizing radiation or Reactive Oxygen Species (ROS

Inhibition of cAMP degradation by amplifies the signaling of epinephrine and glucagon in liver, muscle, and adipocytes. This would result in higher degradation of glycogen in liver and muscle during fasting. Lipolysis in adipcytes would be also amplified

Glycogenolysis, gluconeogenesis, lipolysis are regulated by insulin signaling, which is involved in the production of cAMP phosphodiesterase (PDE) to modulate the amounts of cAMP in the cell. How would a muscle, liver and adipocyte response to epinephrine and glucagon be affected by the addition of an inhibitor of PDE such as methylxanthine? Caffeine is a good source of methylxanthine that can affect metabolism in the liver and the muscle.

4-5 membrane bound pumps hydrolyze ATP to pump protons into the leumen

lysosome pH

A hamartoma is a benign disorganized collection of a tissue type normally found in the organ in which the mass occurred. Most pulmonary hamartomas are solitary, peripherally located, and often have a "popcorn" or stippled pattern of calcification

Hamartoma

Arch of the azygos vein

His computed tomography (CT) scan reveals a tumor located just superior to the root of the right lung. Blood flow in which of the following veins is most likely blocked by this tumor?

Vesicular monoamine transporter (VMAT)

Having exhausted the list of the most highly recommended drugs, his physician adds reserpine to his drug regimen, since it has a unique mechanism of action, and remains as less opted therapeutic option due to adverse effect. The molecular target for this antihypertensive drug, reserpine is inhibition of:

Alpha ketoglutarate

Healthy volunteers are given a solution containing Alanine with a radio labelled carbon atom. The liver initially takes up Alanine and after a delay; the labeled carbon from Alanine is detected in blood Pyruvate. Before conversion to Pyruvate, the Alanine transfers its amino group to:

Alpha ketoglutarate

Healthy volunteers are given a solution containing Alanine with a radiolabelled carbon atom. The liver initially takes up Alanine and after a delay; the labeled carbon from Alanine is detected in blood Pyruvate. Before conversion to Pyruvate, the Alanine transfers its amino group to:

Related to chronic inflammation, oxidative damage and regeneration- hep C is more chronic - similar to H pylori, more cell turnover, more chance for cancer Don't get into genome except sometimes Heb B but it is not required

Hepatitis B and C Viruses

-chronic myeloid leukemia -is characterized as a pluripotent stem cell disease of the hematopoietic system that results from a consistent chromosomal translocation. This translocation is known as the Philadelphia chromosome and results from a translocation between chromosomes 9 and 22.

Her physician orders a routine blood test that indicates the presence of increased immature white cells (blasts) that also contain the Philadelphia chromosome. This chromosomal abnormality is associated with which of the following disorders?

Her 2 new mutation= not good for boobs bad prognosis breast cancer, receptor turned on non stop

Her2Neu- ERBB2 receptor, overexpression

Define heterogeneity

Heterogeneity is a measure of how different the studies are, and if that difference is outside that of expected chance.

Variable

Histone methylation

Sympathetic post-synaptic motor

Histopathological examination of peripheral nervous tissue revealed elevated lipofuscin granules within ganglionic neurons (see images below). Which of the following cell types was most likely causing this patient's condition?

Semi-conservative

Historically many modes of DNA replication have been proposed. What is the correct mode of replication?

The incidence will decrease, and over time prevalence will decrease

How are incidence and/or prevalence most likely to change if a vaccine is discovered?

Incidence will decrease and over time prevalence will decrease

How are incidence and/or prevalence most likely to change if the person-to-person transmission is decreased?

Both incidence and prevalence will increase

How are incidence and/or prevalence most likely to change if we have better screening for disease?

Prevalence will go down, incidence may or may not be affected

How are prevalence and incidence most likely to change if a cure for a disease is discovered?

Free radical formation= toxic HEPATOCELLULAR CARCINOMA

How chloroform, carbon tetrachloride toxix -degreasing, dry cleaning

via the blood; faster and widely

How do sarcomas spread

The impairment of PFK-1 in the muscle would lead to fructose-6-phosphate accumulation, which in turn isomerizes to glucose-6-phosphate. Glucose-6-phosphate allosterically inhibits glycogen phosphorylase and activates glycogen synthase thereby leading to accumulation of glycogen in the muscle.

How do you explain the connection between a glycolytic enzyme defect PFK-1 and the accumulation of glycogen in the muscle leading to exercise impairment? (In classic Tarui disease, the genetic defect involves the M isoform of phosphofructokinase I (PFK-1 is a tetramer), resulting in the absence of enzymatic activity in the muscle)

Inhibits beta catenin

How does APC gene normally function

Acute Myeloid Leukemia

How is Benzene toxic Painting, dry cleaning, paint and rubber

Transitional cell bladder cancer

How is Beta Naphthylamine aka aniline dyes toxic? rubber chemical metal

Digesting DNA with restriction enzymes and ligating compatible fragments

How is recombinant DNA generated?

8

How many spinal nerves leave the spinal cord in the cervical region?

The inappropriate expression of genes that should not be transcribed due to an inability to maintain epigenetic control.

How would you explain the mechanism by which a nonsense mutation in MECP2 causes Rett syndrome?

HTT

Huntington Disease is caused by a CAG expansion in which gene?

PCR

Huntington Disease: which technique is preferred for measuring the size of the trinucleotide repeat sequence

Fragile X Syndrome Hypermexthalation CG

Hypermethylation prevents gene transcription in which disorder?

1) Transforms the blastocystic cavity to primary/primitive yolk sac 2) Forms extraembryonic tissue only 3) Not Part of the bilaminar disk 4) Formed from embryoblast

Hypoblast is involved in all of the following processes

Interventions- exposure of interest

I in PICOS

Oligodentrocytes

Myelination of central nervous system axons is provided by:

examples of maternal expansion bias

Myotonic Dystrophy Friedreich Ataxia Fragile X

3' UTR (ii) DMPK

Myotonic muscular dystrophy is caused by a CTG repeat expansion within the ___(i)___ of the ___(ii)____ gene.

no change to osmolarity loss of ECF volume

ICF/ECF transition diagrams for diarrhea

transfer of electrons to oxaloacetate malate shuttle

NADH generated by glycolysis in the the liver enters mitochondria by which process

Oligodendrocytes Astrocytes Microglia

Identify ONE of the possible cell types whose nucleus could be found within the yellow box, be specific.

Cerebral Cortex Cerebral Cortex Grey Matter Cerebral Grey Matter

Identify one location where the tissue pictured below is found, be specific

Cerebral Cortex Cerebral Cortex Grey Matter Cerebral Grey Matter

Identify one location where the tissue pictured below is found, be specific.

DNA Nucleic Acids Chromatin

Identify the cell material that attracts the blue stain in the areas indicated by the arrows.

Schwann Cell

Identify the cell type marked by the blue circle.

Euchromatin

Identify the material indicated by the blue arrow in the image.

Hematoxylin and eosinhematoxylin H and E

Identify the specific stain used to dye this tissue.

Label D

Identify the spinal nerve proper on the following schema:

basement membrane

Identify the structure marked by the black arrows

Perineurium

Identify the structure marked by the blue arrows. Be specific.

Unmyelinated Axon Axon

Identify the structure marked by the blue circle. Be specific

Unmyelinated Axon Axon

Identify the structure marked by the blue circle. Be specific.

Dorsal Horns

Identify the structures outlined in red, be specific.

Dorsal Horns Spinal Cord Dorsal Horns

Identify the structures outlined in red, be specific.

Sensory Somatic Sensory Autonomic Sensory Afferent Information

Identify the type of information carried by the neuron cell bodies in this image. Be specific

APC inhibits beta catenin....beta catenin promotes cell cycle.

If APC is not working

30%

If a DNA molecule contains 20% adenosine nucleotides, what proportion of cytidine nucleotides does it contain?

33%

If a parent carrying a balanced 14q21q Roberstonian translocation has a live-born child, the hypothetical risk that the child will have Down syndrome is...

100% 21 and 21 = 100

If a parent carrying a balanced 21q21q Roberstonian translocation has a live-born child, the hypothetical risk that the child will have Down syndrome is...

because precipitates acute angle closure glaucoma in elderly worsens their glaucoma

If a person has glaucoma why dont you use atropine

Descending colon

If a physician is palpating in the quadrant shaded in blue, which of the following organs can be expected to normally be located there?

Exit of Na+ from the cell​

If a poison such as cyanide stops the cellular production of ATP, which of the following processes will cease?​

Overestimate the physical distance

If a recombination hotspot exists between two loci, the genetic distance between the loci will

68% since 15 is one standard deviation, one standard deviation below the mean of 100 is 85 and one standard deviation above the mean is 115. Between ± 1 standard deviation is 68% of the distribution

If the mean IQ is 100 with a standard deviation of 15, what percentage of the sample has an IQ between 85 and 115?

expressed from only the paternal allele

If we say a gene is maternally imprinted, this means that it is

elevate the bed to 60 degrees and try that

If you cant get a JVP at 30 degrees what do you do next

The APC gene is mutated in sporadic colon cancers and cancers associated with familial polyposis coli

Importance of APC (tumor suppressor gene)

Akt activity results in anti-apoptotic Bcl-2 & Bcl-xL proteins binding to Bax & Bak, prevents intrinsic apoptosis pathway by preventing pore formation

Importance of Akt activity -works with bad twins

•An expanded CGG repeat creates a large CpG Island in the 5'-UTR •CGG repeats are methylated on cytosines •Epigenetic Silencing

Importance of CGG in Fragile X

Epidermal Growth Factor Receptor Family- EFGR or ERB-B turned off: MS, alzheimers turned on: breast cancer, adenocarcinoma, stomach, ovarian, uterine

Important Receptor Tyrosine Kinase

only from one of the paternal or maternal alleles

Imprinted alleles are expressed...

There was no control group

In a group of 1000 cigarette smokers, 20 develop lung cancer over the course of ten years. Which of the following factors most limits the ability to conclude that cigarette smoking is associated with an increased risk for lung cancer?

Negative in a negatively skewed distribution mode > median > mean

In a random sample of IQs in the community, the mean is 90, the median is 100, and the mode is 110. What is the shape of this distribution?

Post-translational modification of the protein

In general, which step of the gene expression pathway is regulated to provide the fastest response to stimuli?

Pancreas

In regards to the following statement, what organ is being described? ... "The organ that is located directly posterior to the stomach and passes secretions to the first part of the small intestine."

Forms endoderm

In the 3rd week of development, which of the following is most likely about the first population of cells that migrate from epiblast?

Gluconeogenesis

In the citric acid cycle, succinate thiokinase catalyzes the cleavage of the succinyl -Co-A to succinate with formation of a high energy compound. This compound can then be used by the body in which of the following biochemical pathways?

stimulates glycolysis inhibits gluconeogenesis

Increase F26BP kinase activity

Fructose-2,6-BP

Increases PFK-1 and thus more F-6-P to F-1,6-BP glycolysis

-increases -increased sample size is associated with lower beta, which would be associated with higher alpha. False positives are the same as a Type I error.

Increasing the sample size ______________the likelihood for false positives.

1) Structural Proteins 2) Transcription Factors

Indicate the most common mode of inheritance for phenotypes that result from single-gene mutations in genes encoding proteins with the indicated function. DOMINANT

1) Enzymes 2) Transporter proteins

Indicate the most common mode of inheritance for phenotypes that result from single-gene mutations in genes encoding proteins with the indicated function. RECESSIVE

UBE3A: maternal SNRPN: paternal OCA2: both maternal and paternal

Indicate the normal expression patterns of the UBE3A, SNRPN and OCA2 genes.

are at increased risk for a combined partial trisomy and partial monosomy

Individuals who carry balanced reciprocal translocations are usually phenotypically normal, while their children...

missing all or part of the p-arm of chromosome 5 cri du chat has 5 cats

Individuals with Cri-du-Chat syndrome have karyotypes

missing all or part of the p-arm of chromosome 4 4 letters wolf, four

Individuals with Wolf-Hirschhorn syndrome have karyotypes...

Phenylketonuria

Intellectual Disability Musty Odor Hypopigmentation Phenylketones in urine

BH4 Deficiency

Intellectual Disability Musty Odor Hypopigmentation Phenylketones in urine Decreased production of catecholamines

Maple Syrup Urine Disease

Intellectual Disability Sweet smell in diapers

common presentation of Down Syndrome

Intellectual disability Upward sloping palpebral fissures Single palmar crease Excess nuchal skin Epicanthal folds Duodenal atresia Hypotonia Congenital heart defects

Paclitaxel (Taxol)

Interact with microtubules (but unlike vinca which prevent disassembly of tubules), it stabilizes tubulin and cells remain frozen in metaphase

I in PICOS

Interventions - exposure of interest

Risk is related to dose and length of exposure Direct effect of the radiant energy Indirect effect mediated by generation of free radicals Bone marrow/hematopoietic system always dividing !! Highest risk

Ionizing Radiation - Carcinogenic x-rays, γ rays and particulate radiations

COPD, rhinitis, acute astma anticholinergic drug

Ipratropium

-Reflects the combined effect of all genetic and environmental risk and protective factors -Is a quantitative trait -Can be estimated in populations -Is normally distributed in populations

Liability

Inverse Agonist

Ligand that activates a receptor to decrease the normal response of an agonist below basal activity

Partial Inverse Agonist

Ligand that activates a receptor to decrease the normal response of an agonist below basal activity but not to the same level as an inverse agonist

Agonist

Ligand that activates a receptor to produce a full (maximal) response

Fragile X syndrome- X linked dominant Friedreich Ataxia- Autosomal recessive

Loss of protein- null mutations

Prader-Willi Syndrome

Loss-of-function mutations in SNRPN will result in:

Allelic heterogeneity

Loss-of-function mutations in the CFTR gene cause cystic fibrosis. Over 2000 mutations have been described in the CFTR gene which cause the disease. What type of heterogeneity occurs when many different disease-causing mutations can occur in the same gene?

Prader-Willi Syndrome- snrpn the willi

Loss-of-function of SNRPN

Increased membrane capacitance

Magnetic resonance imaging (MRI) of the brain and spinal cord reveals lesions that are consistent with a diagnosis of multiple sclerosis. Which of the following is expected in the patient?

Increased membrane capacitance

Magnetic resonance imaging (MRI) of the brain and spinal cord reveals lesions that are consistent with a diagnosis of multiple sclerosis. what would be expected in this patient (A 39-year-old woman presents with paresthesia of the left hand that resolves 48 hours later. History reveals an episode of weakness in the left leg 6 months prior that lasted for 2-3 days and double vision on several occasions over the past year that lasted for 24 hours. Magnetic resonance imaging (MRI) of the brain and spinal cord reveals lesions that are consistent with a diagnosis of multiple sclerosis.)

•CGG expansion in Fragile X (FRAXA) •CTG expansion in Myotonic Dystrophy (DM1) •GAA expansion in Friedreich Ataxia (FRDA) Repeat expansions and anticipation are more likely when the disease is passed on from the momma

Maternal Expansion Bias- aka big mom

Pyruvate kinase

Most of the reactions of glycolysis are reversible and the same enzymes are used in gluconeogenesis. Which of the following glycolytic enzymes catalyzed reactions that must be "bypassed" by the gluconeogenesis pathway?

arrange a meeting with Mrs. Thompson to discuss her diagnosis and prognosis suggesting that she should feel free to invite any friends or family to attend the meeting as well

Mrs. Thompson is an otherwise healthy and alert 84-year-old woman who has recently been diagnosed with metastatic breast cancer. It is the consensus of the medical team caring for her that cure is not an option for Mrs. Thompson given the extent of the disease and her age. Should her physician:

Oligodentrocytes

Multiple Sclerosis (MS) is an autoimmune disorder of the central nervous system in which the body creates antibodies against myelin. Some people with severe MS may lose the ability to walk independently or at all, while others may experience long periods of remission without any new symptoms. Myelination of central nervous system axons is provided by:

Oligodendrocyte= CNS= MS

Multiple Sclerosis (MS) is an autoimmune disorder of the central nervous system in which the body creates antibodies against myelin. Some people with severe MS may lose the ability to walk independently or at all, while others may experience long periods of remission without any new symptoms. To what type of cell is the antibody in MS produced?

Sisters of affected brothers

Multiple sclerosis occurs in females three times more often than males. Which of the following is at greatest risk of being affected by multiple sclerosis?

parent-of-origin dependent phenotypes

Mutations in imprinted genes are most likely to result in...

Frameshift mutations are more likely to cause Duchenne

Mutations in the DMD gene can cause either Duchenne or Becker muscular dystrophy. Which of the following options provides the best explanation for the difference in disease phenotypes?

C

Mutations in which of the labelled structures is most likely to cause abnormalities in the permeability of epithelial layers?

Ventral Horn

Name the specific region of the spinal cord in which these cells (see image) are located.

Ventral horn

Name the specific region of the spinal cord in which these cells are located.

Rough endoplasmic reticulum

Name the structure indicated by the blue arrow.

Cell Boundary

Name the structure indicated by the tip of the black arrow.

Place the baby on a phenylalanine restricted diet Test for BH4 levels

Newborn testing identified plasma phenylalanine levels of 1mM in a newborn boy Normal <0.12mM. Which of the following action(s) should be immediately carried out?

9 carbon- Neuramnainic acid - sialic acid

Nonose

Elastic recoil of lung tissues

Normal Quiet Expiration

16-18 breaths per minute

Normal respiration

Glycogen phosphorylase regulation

Normally glycogen phosphorylase becomes active when it is phosphorylated. Glucagon can activate PKA that phosphorylates it and stimulates Glycogen breakdown NON PHOSPHORYLATION- Ca2+ can bind it and activate it without P AMP can activate it without it being phosphorylated

all needed proteins -histones -polymerases, transcription factors

Nuclear pore complex imports

RNA

Nucleotide subunits contain ribose sugars

Short DNA strands synthesized on the lagging strand

Okazaki fragments are...

Since aminoacids alanine and glutamine from the muscle myosin are the regulated carbon source for the production of glucose during gluconeogenesis, muscle mass is lost due to gluconeogenesis being active during long starvation.

One consequence of starvation is a reduction in muscle mass. What happens to the muscle proteins?

nucleotide activated intermediate that acts as common sulfate donor

PAPS 3'-phosphoadenosine-5'-phosphosulfate

Column 3 Huntingtons is dominant, look for biggest band at top of column

PCR was carried out on the CAG repeat within the HTT gene of 4 individuals. Which individual is likely to be most severely affected by Huntington Disease?

AMP/ATP ratio

PFK-1 is sensitive to an increase in which ration during the first few seconds of exercise

Glycolysis rate limiting step

PFK-1: Upregulated by fructose- 2,6 bisphosphate and AMP; Downregulated by ATP and Citrate

high ADP, AMP High Fructose 2, 6 bisphosphate

PFK1 allosterically activated by

high ATP and high citrate

PFK1 allosterically inhibited by

Vesicular monoamine transporter (VMAT)

PT has severe hypertension physician adds reserpine to his drug regimen, since it has a unique mechanism of action, and remains as less opted therapeutic option due to adverse effect. The molecular target for this antihypertensive drug, reserpine is inhibition of:

Variable expressivity example

Patients with the same genotype may have varying phenotype 2 patients with neurofibromatosis type 1 may have varying disease severity

-Most CAG expansions poly Glutamine in Huntington, Cerebellar Ataxias (SCA) -Repeat expansions and anticipation are more likely when the disease is passed on from the daddy

Paternal Expansion Bias- aka small dad

only maternal allele is expressed

Paternal imprinting normal

Disease not expressed

Paternal imprinting- Mutation on paternal chromosome

Disease is expressed

Paternal imprinting- mutation on maternal chromosome

Angelman Syndrome

Paternal uniparental disomy of chromosome 15 will result in...

Placebo Effect: Solution: Blinding

Patient in the comparison/control/placebo group believes that they are in the treatment/intervention/drug group, and reports accordingly

To provide a hard medium that can be sectioned thinly with a blade

Preparation of tissues for light or electron microscopy often involves embedding the tissues in a substance such as wax or plastic. What is the purpose of such embedding?

Impacts precision Is unfortunate, but expected

Random error - threat to reliability

1) Nonpathogenic, stable, alleles 2) Nonpathogenic, mutable alleles 3) Reduced penetrance disease alleles 4) Full penetrance disease alleles

Rank categories of trinucleotide repeat alleles from smallest to largest

1) Most common: Genome mutations aneuploidy or polyploidy 2) Intermediate frequency: Chromosome mutations chromosome structural abnormalities) 3) Least common: Gene mutations replication errors

Rank the frequency with which these mutation types occur from most to least

Both A and B Look for arrow that goes forward as well as in reverse

Reaction coordinate diagram for uncatalyzed and enzyme-catalyzed conversion of a reactant S to its product P. Which one of the arrows in the diagram represents the activation energy for the uncatalyzed conversion of S → P?

10

Recent estimates of the prevalence of autism spectrum disorders in the United States is about 2%. If 20% of siblings of children affected by autism, also develop autism, what is the sibling risk ratio of the condition?

What is allostatic load?

Repeated exposures to stress over time that accumulate explanation: prolonged stress at the structural and social level can lead to multiple morbidities, low quality of life, and early mortality

mesenchymal

Refers to cells that develop into connective tissue, blood vessels, and lymphatic tissue.

Glucose 6-phosphate

Regulation of glycogen metabolism is tightly controlled at the level of the activity of glycogen phosphorylase. Which of the following is known to act as a negative effector of glycogen phosphorylase?

Topoisomerases

Remove accumulating supercoils

RanGEF

Removes GDP from Ran, replaces with a fresh GTP

N-glycanase

Removes N-linked carbohydrates

Histone H1

Required for coiling into the 30nm fiber

There was no control group

Researchers were interested in studying the relationship between alcohol consumption and breast cancer. Cumulative alcohol consumption from the previous ten years was assessed among 1,000 women, controlling for age, race/ethnicity, smoking status and BRCA 1/2 mutation status. Which of the following factors most limits the ability to conclude that alcohol consumption is associated with an increased risk for breast cancer?

cystic fibrosis (CF) Caused by incorrect protein folding and degradation

from molecular biology perspective what is the cause of CF

anus and skin around anus

S2-S4

Regulatory Elements Cis-Acting

Short DNA sequences within gene regulatory regions which are bound by proteins which control initiation of gene transcription

looks like it might be mitochondrial since all offspring of moms are affected- of the choices only Leber Hereditary optic Nueropathy is mitochondrial

Shown is a pedigree of a family affected by an inherited disease. Based on the inheritance pattern observed in the pedigree, which of the following diseases is most likely affecting this family?

Ascertainment Bias: Solution: Randomization; stratify by disease severity.

Sicker people are more likely to be in studies; biased toward sicker cases.

Uracil

Spontaneous deamination of cytosine makes?

Nerve 1- Look for biggest diameter and myelination

Six neurons have axons of the same length, but different states of myelination and axon diameter. Which is fastest nerve conduction speed?

Thymine

Spontaneous deamination of 5-methylcytosine

Barrett Esophagus histology

Squamous on the right, on the left you see the glandular epithelium with goblet cells- bluish mucin in the cytoplasm.

Trust v. Mistrust

Stage 1Refers to a stage of development from birth to approximately 18 months of age, during which infants gain trust of their parents or caregivers if their world is planned, organized, and routine.

phosphoenolpyruvate

Step 9: (2) 2-Phosphoglycerate -----------> ?

see keratin think desmosomes

Studies reveal the child suffers from a genetic condition where epithelial cells exhibit decreased keratin content. Which of the following cell junctions would be most affected as a result of his condition?

Attrition bias Solution: -Front end: Reduce study burden, make study confidential/anonymous, choose a less sick sample -Back end: Intent-to-Treat Analysis - statistical analysis that keep drop-outs in the same groups; drop-outs counted as non-responders

Study participants who dropped out/died were not accounted for in analysis Drop-outs/deaths may be different from those who stay/survive

Primase

Synthesis of 10 nucleotide of RNA to initiate DNA synthesis

-Impacts accuracy -Not good and should be avoided to the extent possible

Systematic error - is not accurately assessing reality

T= tumor N- Lymph Node M= Metastases AJCC- depends on site ex: TisN0M0- In situ, negative nodes, no mets Ex: T1N1M1- Invasive tumor, regional node involvment, mets present

TNM system

Sphingolipidoses

Tay Sachs metachromatic leukodystrophy gauchers

Sternal Angle (Angle of Louis)

The sternal angle is a good landmark to estimate the vertebral level between which two vertebrae?

publication bias Solution: Systematic reviews/meta-analyses that include unpublished results

Tendency to only publish results with "positive", or significant outcomes May appear to be a stronger association between exposure and outcome than what there really is because that is all that is published

They represent attempts to codify and clarify professional obligations and values which members of the medical professional agree are important

The Hippocratic Oath, the American College of Physicians Ethics Manual, and the AMA Principles of Medical Ethics are all examples of professional standards. Of the following, which statement is the most accurate with respect to such standards?

-Dilated cardiomyopathy -Familial lipodystrophy -Progeria -Emery-Dreifuss muscular dystrophy

The LMNA gene encodes both lamin A and lamin C, the two crucial components of the intranuclear lining web of lamin intermediate filaments. Which four disorders are associated with defects of lamin A/C,

important for control of intracellular pH​

The Na+/H+ transporter in the plasma membrane of many cell types is which of the following?​

Normally expressed from both chromosomes

The OCA2 gene on chromosome 15q11-13 is...

increasing severity of disease as it is passed from parent to offspring

The Sherman Helmsley paradox of trinucleotide repeat disorders describes...

Maternal, Paternal, Biallelic

The UBE3A, SNRPN and OCA2 genes have which expression patterns?

Patient lying supine at 0 degreess

The abdominal examination should be done with the patient in what position?

Voltage-gated sodium channels

The axon hillock of a motor neuron is the trigger zone for action potential generation because of the high concentration of which of the following types of channels in the axon hillock?

*Stratify by disease severity *Randomize -Conduct intent-to-treat analysis (this statistically keeps all those randomized to groups in that same group, regardless of attrition)

The best way to mitigate measurement biases is to

Stratify by disease severity Randomize Conduct intent-to-treat analysis (this statistically keeps all those randomized to groups in that same group, regardless of attrition)

The best way to mitigate sampling biases is to

the intermediolateral cell column of the spinal cord.

The cell bodies of sympathetic preganglionic neurons are located in:

contains two major subdivisions: 1) the submucous plexus - secretory functions acid etc. 2) the myenteric plexus- Smooth muscle activation

The enteric nervous system:

Competitive inhibition

The enzyme reaction scheme on the right most closely depicts:

The function of its postsynaptic receptor

The excitatory or inhibitory action of a neurotransmitter is determined by which of the following?

Tricuspid and mitral

The first heat sound is produced by near-simultaneous closure of which of the following valves?

It is a microtubule associated protein (MAP)

The hyperphosphorylation of the tau protein appears important in the early onset of Alzeheimer's Diseas. What kind of protein is tau?

whether the permeant ion's reversal potential is positive or negative to threshold.

The most important factor determining whether a receptor-operated ion channel is inhibitory or excitatory is

The speed of impulse conduction.

The myelin sheath of an axon is best thought of as functionally associated with:

4% In the question, you are given the prevalence in the general population, and λs. For the couple in the question, the overall risk of having a second child affected is the prevalence of the disease in siblings of an affected person

The neural tube defects (NTDs), spina bifida and anencephaly, are complex trait disorders. In combination they affect 0.2% of the world's population. The sibling risk ratio (λs) for NTD's has been estimated to be 20. If you are counseling a healthy couple who have had a first child with a NTD, you should advise them that the overall risk of having a second child with a NTD is...

one less than

The number of Barr bodies that can be observed in a cell is _________ the number of X chromosomes

Transcription factor EB that stimulates expression of lysosomal enzymes

Which of these functions is an unlikely role for an integral plasma membrane protein?

Autosomal-dominant Emery-Dreifuss muscular dystrophy

Which of these is a disease associated with Lamin A mutations?

Cytochalasin

Which of these is a well-known drug that blocks the depolymerization of F-actin and so disrupts the actin cytoskeleton?

Right arm

The right lymphatic duct collects lymph from one of the following regions:

Simple squamous

The serous pericardium of the heart consists of a layer of serous mesothelium, how would you classify this specialized type of epithelium?

Hypertrophy

The size of her enlarged heart is most likely to be the result of which of the following processes involving the myocardial fibers? (A 20-year-old woman had Goodpasture syndrome which progressed to chronic renal failure. She is 165 cm tall and weighs 55 kg. She now has blood pressure measurements in the range of 150/90 to 180/110 mm Hg, but does not regularly take medications. Laboratory studies show her blood urea nitrogen is over 100 mg/dL and she requires chronic dialysis. A chest x-ray shows an enlarged heart)

Vinblastine

Which of these is another drug that binds tubulin subunits and prevent them from polymerizing into microtubules?

Cytogenetics

The study of chromosome structure, inheritance and abnormalities

Axillary artery

The subclavian artery immediately continues with the one of the following vessels:

Azygos vein

The superior and inferior venae cava anastomose via one of the following veins:

Is part of the autonomic nervous system

The sympathetic nervous system:

look for number closest to 1 and pick that, in this case it was .80 diabetes melitus I

The table shown lists heritability for several multifactorial diseases. Which disease is influenced most by genetic factors?

Diabetes Mellitus Type 1- look for highest number

The table shown lists heritability for several multifactorial diseases. Which disease is influenced most by genetic factors? Diabetes Mellitus Type 1- 0.80 Diabetes Mellitus Type 2- 0.60 Club foot- 0.58 Myocardial infarction (males)= 0.28 Myocardial infarction (females) 0.60

refer to "global" versus "continuum based" assessments of a patient's mental abilities to understand and process information.

The terms "competence" and "capacity

refer to "global" versus "continuum based" assessments of a patient's mental abilities to understand and process information

The terms "competence" and "capacity":

Excess cholesterol in the circulation

There are many types of hemolytic anemia, and with experience a clinician learns to differentiate between the different forms. A patient with mild hemolytic anemia patient is diagnosed with acanthocytosis (spur cell anemia). Which of the following is most likely to be associated with this disease?

-Test incorrectly identifying condition = False Positive (FP) -saying a patient has a condition when in reality they do no

There are various types of errors that can occur with diagnostic testing. Which one of the following results is consistent with a Type 1 Error?

Ultrasound examination and non contrast magnetic resonance imaging (MRI)

What imaging modalities carry no risk or least risk during pregnancy?

Incidence = New Cases / (Population x Timeframe) 13/91

There's 100 people in a small village. 9 people contract a novel virus called "SARS-CoV-2." Assume they develop great natural immunity and cannot become reinfected. The following month, 13 now test positive. What is the incidence?

Timothy's son

Timothy Andrews is a 74-year-old divorced man with a 50-year-old son. Timothy's son lives in China and has not spoken to Timothy in 20 years. Timothy also has a 75-year-old cousin with whom he is very close. Yesterday, Timothy suffered a major stroke. He is unconscious and unable to make decisions for himself. Timothy has not appointed anyone to make medical decisions for him. Who is Timothy's legally appropriate decision maker?

Timothy's son would ne the legal decision maker

Timothy's son lives in China and has not spoken to Timothy in 20 years. Timothy also has a 75-year-old cousin with whom he is very close. Yesterday, Timothy suffered a major stroke. He is unconscious and unable to make decisions for himself. Timothy has not appointed anyone to make medical decisions for him.

-liver -glucose 6 phosphatase -smooth ER

Tissue affected enzyme deficiency location of the enzyme for Von Gierke's Disease

1. Bone marrow/hematopoiesis 2. GI/Gut 3. Skin 4. Organs 5. Bone/Muscle/Brain

Tissue risk depends on how rapidly it is proliferating or dividing- list of high to low

Control for extraneous variables statistically

To control for confounding bias on the "back end" means to:

Use inclusion/exclusion criteria

To control for confounding bias on the "front end" means to:

this helps with attrition bias

To keep people who drop out in the same group they were randomized to

Qualitative traits

Traits that are not continuously variable but are only either present or absent are called _____ traits ?

Initiation Factors

Transcription Factors that directly recruit the RNA polymerase to the transcription start site -TSS

Activators

Transcription Factors that enhance the recruitment of the RNA polymerase

Repressors

Transcription Factors that inhibit the recruitment of the RNA polymerase

1) Myelin sheaths are created by glial cells 2) Myelin serves to sharply decrease the time constant of the axon 3) Multiple layers of closely opposed glial membranes wrap the axon and serve as an electrical insulator 4) Myelin is absent at the nodes of Ranvier 5) Sodium and potassium channels are clustered at the nodes of Ranvier.

True statements about myelination

APC - B-catenin - colon cancer (FAP

Tumor Suppressor mutations: colon cancer

Rb - retinoblastoma, osteosarcoma

Tumor Suppressor mutations: retinoblastoma, osteosarcoma

A parental meiotic nondisjunction resulting in trisomy followed by a post-fertilization mitotic nondisjunction resulting in UPD

Uniparental disomy aka UPD occurs when a child inherits 2 copies of a chromosome from 1 parent and no copies from the other parent. The mechanism that results in UPD is called "Trisomy Rescue". What occurs in trisomy rescue to result in UPD?

1) activation of growth promoting oncogenes 2) Inactivation of tumor suppressor genes 3) Regulation of apoptosis 4) DNA repair genes

What are the 4 classes of regulatory genes

-Activation of growth promoting oncogenes -Inactivation of tumor suppressor genes -Regulation of apoptosis -DNA repair genes

What are the 4 classes of regulatory genes for carcinogenesis?

Complete Trisomy 21, Robertsonian Translocations, Trisomy 21 Mosaicism

What are the different chromosomal abnormalities that can cause Down Syndrome, in order from most common to least common?

Bodies of the post-ganglionic parasympathetic neurons

What are the intramural autonomic ganglia composed of?

Axons of the lower motor neurons

What are the ventral rootlets of the spinal nerve composed of?

-Starting and changing the conversation around structural and social impacts of health -Screening -Navigating -Engaging relevant stakeholders

What can I do as a health professional to address SSDOH?

Mutations in a keratin protein typical of the basal layer of the epidermis

What causes autosomal dominant Epidermolysis bullosa simplex?

Mutations in a keratin protein typical of the keratinocytes of the middle layers of the epidermis (stratum spinosum)

What causes autosomal dominant Epidermolytic hyperkeratosis?

What class of polymerase are the DNA polymerases?

What class of polymerase are the DNA polymerases?

RNA-dependent DNA polymerase

What class of polymerase is a reverse transcriptase?

RNA-dependent DNA polymerase

What class of polymerase is a telomerase?

Black

What color does the free air appear on the X-ray?

Black (anechoic)

What color does the urine appear on the ultrasound exam of urinary bladder?

Barrett Esophagus histology

What condition is characterized by the presence of columnar epithelium with goblet cells in the esophagus?

CNs and SNs cranial nerves and spinal nerves

What does the peripheral nervous system include?

Vasculature

What does the visceral lateral plate mesoderm layer form?

EF-G

What drives translocation in prokaryotes?

glycogen phosphorylase

What enzyme catalyzes the rate-limiting step in glycogenolysis?

Glucose-6-phosphatase

What enzyme is deficient in the following glycogen storage disease? • von Gierke's disease

Preganglionic sympathetic fibers- synapse directly on cell unique, no postganglionic

What fibers stimulate the adrenal gland?

Mannose 6-phosphate (M6P)

What groups are recognized by M6P receptor protein in the trans Golgi network that segregates the hydrolases and helps package them into budding transport vesicles that deliver their contents to the endosomes?

1) Reflects the combined effect of all genetic and environmental risk and protective factors 2) Is a quantitative trait 3) Can be estimated in populations 4) Is normally distributed in populations

What is Liability in relation to multifactorial diseases

When loci are coinherited because they are near each other on the same chromosome

What is Linkage

Quantifying the cross-overs that occur between two loci to estimate the distance between them

What is Linkage Analysis

When homologous chromosomes cross-over during meiosis

What is Recombination

A collection of DNA molecules carried in vectors in a bacterial culture

What is a DNA library?

A protein anchored to the outer membrane by attachment to a type of glycolipid

What is a GPI-anchored protein?

Myofibrillar myopathy

What is a disease associated with the desmin intermediate fibers of myocardiocytes?

They are thinner, lack dynamic changes, lack polarity & are not hollow

What is a quick way to distinguish cellular intermediate filaments from microtubules?

A vector that contains a promoter to drive expression of a gene

What is an expression vector?

Condensed chromatin in the nucleus that stains dark

What is heterochromatin?

When screening finds the less aggressive disease

What is length-time bias?

When screening finds the less aggressive disease length=less aggressive

What is length-time bias?

-RTK- Receptor Tyrosine Kinase mutations lead to activity Independent of growth factor presence Mutation causes permanent On state without any external binding/signal

What is most important receptor pathway in cancer

Increase the amount of phospholipids that have long saturated fatty acid tails

What is one way in which a membrane can be made less fluid?

# of recombinant progeny/ total # of progeny

What is recombination frequency/ how calculated

The maximum number of times a cell can divide before entering senescence

What is the Hayflick Limit?

0.125 mM

What is the Km for the plot shown?

GABA agonist- gaba good for seizures

What is the appropriate treatment for this condition ie seizures

Basic polar head group attached by phosphate to a diacylglycerol

What is the best description of a general phospholipid?

Speckles- preMRNA to mature poly a tailed mRNA

What is the general name given to the very small structures that are devoted to processes such as splicing and capping process of pre-mRNA into a mature poly(A)-tailed mRNA?

Chronic high cholesterol

What is the most common basic cause of Acanthocytosis?

Mutation in spectrin or associated proteins

What is the most common basic cause of Hereditary Spherocytosis?

A balanced chromosomal inversion

What is the most common mutation in severe hemophilia A?

Autosomal dominant with paternal imprinting (The pedigree appears to indicate an autosomal dominant inheritance pattern however the generation skipping (III-2) would need to be explained. Notice that the disease only presents when it is inherited from a mother. This parent-of-origin effect indicates that the mutated gene is expressed from the maternal allele and imprinted on the paternal allele. X-linked dominance is unlikely since there are fewer affected females than males. Mitochondrial inheritance is impossible since the mutation is passed on from a male (II-2). Multifactorial inheritance is unlikely since the affected individuals span 4 generations (3 degrees) - recall that multifactorial traits tend to cluster amongst 1st degree relatives but the risk drops dramatically with 2nd degree relatives and there is very little increased risk to 3rd degree relatives.)

What is the most likely explanation for the pattern of inheritance shown in this pedigree? The numbers in unfilled symbols reflect the number of unaffected children.

Right lobe of liver; coronal view

What is the name of the structure identified by the tip of the yellow arrow and the name of the anatomical plane of the medical image shown?

Sialic acid

What is the negatively charged acidic sugar residue on G M1 ganglioside?

47, XXY

What karyotype is most common in individuals with Klinefelter syndrome?

45, X/46, XX

What karyotype is most common in individuals with Turner syndrome?

Oligosaccharide

What kind of carbohydrate is attached to the typical membrane glycoprotein?

MZ

When assessing the genetic and environmental etiology of a disease, which of the following concordance rates is the most informative?

the current will decay exponentially with increasing distance from the injection site if no action potential is present.

When current is injected into an axon,

Ovulation

When does a secondary oocyte complete its second meiotic division to become a mature ovum?

Berkson Bias: Solution: Randomization; stratify by disease severity.

When the sample is taken not from the general population, but from a subpopulation. Using hospital records in case-control studies to estimate prevalence is a common example.

50:50

When two loci assort independently, when they are passed from parent to offspring, the average ratio of parental:nonparental genotypes is

-MRI -CT -Ultrasound

Which 3 imaging modalities belong to cross-sectional imaging techniques?

Filamin

Which actin filament cross-linking protein is linked to the neuronal disorder, periventricular heterotopia, in which CNS neurons fail to migrate normally during the development of the brain?

Phenylalanine

Which amino acid would you most likely expect to find at the core of a globular protein?

panel A. Note the cytoplasm of cells in panel A is stained dark-blue, indicating a large amount of rough ER.

Which cells are more likely to be involved in protein secretion (see image)?

Oligodendrocytes

Which cells of the nervous system are affected in multiple sclerosis?

Left atrium

Which chamber of the heart does oxygenated blood enter returning from the lungs?

An increase in the amount of glutamate released into the synapse

Which change could be responsible for increasing the amplitude of an excitatory postsynaptic potential EPSP?

-Increased heart rate -Increased blood flow to the heart -Increased blood flow to certain muscles -Decreased blood flow to the GI tract

Which change would be expected to result from sympathetic nervous system activation

Increased uptake of glucose by the liver

Which change would not be expected to result from sympathetic nervous system activation

1) Intellectual disability 2) Degeneration of the striatum and cerebral cortex 3) Involuntary jerky movements 4) Depression

Which clinical presentations are common in Huntington disease?

Degeneration of the cerebellum Loss of muscle coordination

Which clinical presentations are common in Spinocerebellar Ataxia?

Diabetes / Insulin Resistance Cardiac problems Become nonambulatory prior to adulthood

Which clinical presentations are common in Spinocerebellar Ataxia?

Epiblast

Which component of the embryoblast goes on to differentiate at gastrulation?

Lamin C

Which component of the nuclear lamina is produced as a splice-variant product of the lamin A gene?

Emery-Dreifuss muscular dystrophy

Which laminopathy centers on skeletal muscle weakness & atrophy, produces notable contractures, also features sudden heart failure and displays fragile nuclei under microscopic examination?

Clonidine

Which of the following agents has the greatest ability to activate presynaptic autoreceptors, inhibit norepinephrine release, and decrease sympathetic outflow, and also has been used in the treatment of hypertension?

Clonidine clonodine calms you down, lower hypertension and sympathetic out flow

Which of the following agents has the greatest ability to activate presynaptic autoreceptors, inhibit norepinephrine release, and decrease sympathetic outflow, and also has been used in the treatment of hypertension?

happy seizing angel: Frequent seizures Happy demeanour Spasticity Hyperactivity Severe intellectual disability

Which of the following are common clinical presentations in Angelman syndrome?

Fat Willy not happy *Hypotonia in newborns *Poor feeding in newborns *Excessive eating beginning in childhood *Moderate intellectual disability *Obesity and related comorbidities

Which of the following are common clinical presentations in Prader-Willi syndrome?

Male, tall, thin stature, hypogonadism, feminization of secondary sex characteristics

Which of the following are most associated with Kinefelter syndrome?

Female, short stature, amenorrhea, streak ovaries, delayed puberty

Which of the following are most associated with Turner syndrome?

Unstable and degrades more easily than DNA May contain chemically modified bases Contains ribose instead of deoxyribose 3D structures are stabilized by intramolecular base-pairing

Which of the following are properties of RNA?

dATP, dTTP, dCTP, dGTP

Which of the following are substrates for DNA synthesis?

Decreased transcription of the FXN gene Freidrieich no Function FXN

Which of the following causes the pathology of Friedreich Ataxia?

Cytotoxicity of polyglutamine proteins in vulnerable neurons

Which of the following causes the pathology of the polyglutamine disorders?

Autonomic sensory neurons

Which of the following cell types are located in the dorsal root ganglion?

cell swelling

Which of the following cellular changes most likely subsided upon tPA therapy? (A 65-year-old woman has the sudden inability to move her right arm and to speak. MR angiography shows occlusion of a cerebral artery. She is given tissue plasminogen activator (tPA) to dissolve the occluding thrombus. Over the next week she regains some ability to move her arm and to speak.)

Signal transduction

Which of the following characteristics distinguishes true receptors from other drug binding sites present in blood and other biological tissues?

Lung, prostate, colorectal LPC

Which of the following choices lists, from highest to lowest, the three most common causes of cancer death in American males?

t9;22 CML is characterized by the presence of the Philadelphia chromosome, which is an abnormal chromosome formed by the translocation of an oncogene (c-abl) from chromosome 9 to chromosome 22: t(9;22)

Which of the following chromosomal translocations is most consistent with a diagnosis of chronic myelocytic leukemia?

Hormone binds cytosolic receptor and dimerizes, then translocates to nucleus

Which of the following describes the process of steroid hormone signaling?

DNMT1

Which of the following enzymes adds methyl groups de novo to cytosines ie. when both strands are unmethylated?

Phosphoenol Pyruvate carboxy kinase

Which of the following enzymes can be induced genetically by hormones in a person with prolonged history of fasting?

Periodic Acid-Schiff stain (PAS)

Which of the following histochemistry stains is best to highlight the patient's carbohydrate-rich glycoproteins in the glomerular basement membrane when examined by light microscopy?

Contains equal proportions of purine and pyrimidine bases

Which of the following in NOT a property of RNA?

look for female and biggest number of CTG repeats, age dont matter ex: 22-year-old female with 150 CTG repeats As repeat length increases they become more unstable

Which of the following individuals affected by myotonic dystrophy would be most likely to have a more severely affected offspring?

A female with 100 CTG repeats in the DMPK gene Look for female with a large number of repeats

Which of the following individuals would be most likely to have an offspring affected by neonatal-onset myotonic dystrophy?

Neonatal onset myotonic dystrophy is a severe form of the disease which occurs due to very large CTG repeat expansions in the DMPK gene. The CTG repeats may expand during the meiosis of a parent, if that parent has unstable alleles. The larger the parent's repeat size the more unstable it is, and the more likely it is to undergo a large expansion causing a severe presentation of the disease.

Which of the following individuals would be most likely to have an offspring affected by neonatal-onset myotonic dystrophy?

It results in activation of gene expression

Which of the following is NOT true of DNA methylation in humans?

They are more common than monogenic disorders

Which of the following is TRUE about multifactorial disorders?

Congenital heart defects

Which of the following is a common presentation of Patau Syndrome, Edward Syndrome and Down Syndrome?

It is expressed from X-Inactivation Center (XIC) on the inactive X chromosome

Which of the following is true of XIST?

the bronchus, the pulmonary artery and veins, the bronchial arteries and veins, the pulmonary plexuses of nerves, lymphatic vessels, bronchial lymph glands, and areolar tissue, NOT tertiary bronchus

Which of the following is a content of the root of the lung

Taking a vitamin B supplement will have no effect on fingernail growth -the null hypothesis states that there is no difference between, association of, or impact of one variable and another

Which of the following is a good example of a null hypothesis?

1)Deletion of 15q11-13 from the maternal copy of chromosome 15 2) Paternal uniparental disomy of chromosome 15 3) Paternal imprints persisting on the maternal chromosome 15 4) Loss-of-function of UBE3A

Which of the following is a potential cause of Angelman syndrome?

1) Deletion of 15q11-13 from the paternal copy of chromosome 15 2) Maternal uniparental disomy of chromosome 15 3) Maternal imprints persisting on the paternal chromosome 15 4) Loss-of-function of SNRPN

Which of the following is a potential cause of Prader-Willi syndrome?

Percuss the RUQ. Percuss the RLQ. Percuss the LLQ. Percuss the LUQ.

Which of the following is accurate related to the percussion of the abdomen?

1) Begin percussing below the umbilicus and move superiorly. 2) Percuss downward in the mid clavicular line from resonance to dullness

Which of the following is accurate related to the percussion of the liver?

1) Percuss upward from tympanny to dullness. 2) Percuss downward in the mid clavicular line beginning at the nipple. 3)

Which of the following is accurate related to the percussion of the liver?

-The patient's feet should be flat on the table. -The patient should be in the supine position. -During palpation assess the patient for signs of pain or discomfort.

Which of the following is accurate technique for abdominal palpation?

-Start palpation at the level of the umbilicus. -The liver edge is palpable about 3cm below the right costal margin, midclavicular line.

Which of the following is accurate technique for the liver edge?

An inherited phenotype caused by gene inactivation due to chromatin condensation

Which of the following is an epigenetic effect?

Ligand-gated channels are opened to allow sodiumentry into the postsynaptic neuron

Which of the following is characteristic of the events occurring at an excitatory synapse?

-Normal frequency of bowel sounds is between 5 and 30 per minute. -If no bowel sounds are heard, this is abnormal. -Listen for at least 10 seconds in any one place.

Which of the following is correct technique related to auscultation of the abdomen for bowel sounds?

1) Frequency of bowel sounds less than 5/minute is considered hypoactive bowel sounds. 2) Frequency of bowel sounds more than 34/minute is considered hyperactive bowel sounds.

Which of the following is correct technique related to auscultation of the abdomen for bowel sounds?

Main single reason for congenital anomalies.

Which of the following is most likely about numerical chromosomal anomalies

Hypermethylated cytosines

Which of the following is most likely to be found in an imprinted region of a chromosome?

Desensitization

Which of the following is most likely to result from persistent receptor activation?

Triacylglycerol

Which of the following is not found as part of the plasma membrane?

Exposed from the costal margins to the anterior superior iliac spines.

Which of the following is the correct draping for adequate exposure for the abdominal examination?

Belly

Which of the following is the major contractile portion of a muscle?

Type I error increases this is because when power increases, beta decreases, and Type I error increases

Which of the following is true about increasing power?

-Right lung has tertiary bronchi -Bronchial buds form primary, secondary, tertiary bronchi -Terminal bronchioles go to respiratory sac go to terminal sacs go to alveoli

Which of the following is true about lung development?

Pulmonary arteries are in close contact with alveoli.

Which of the following is true about lung development?

Terminal bronchioles go to respiratory sac go to terminal sacs go to alveoli

Which of the following is true about lung development?

Type II pneumocytes secrete surfactant

Which of the following is true about lung development?

Two majors forms due to mutations in the F8 or F9 genes Both forms have X-linked recessive inheritance Defects in the blood clotting cascade Increased bleeding diathesis aka bleeding diseases

Which of the following is true for Hemophilia? (select all that apply)

-It results in inactivation of gene expression -It occurs on cytosine bases in CpG dinucleotides -5-methylcytosine is the predominant methylated base in DNA -It is associated with heterochromatin -It occurs with dyad symmetry on the 2 DNA strands

Which of the following is true of DNA methylation in humans?

-It will increase if α is decreased from .05 to .01 -Is also known as false negative error =villagers don't think there is a wolf but there is -Will increase if CIs are very wide because imprecise data is more prone to a Type II error -Will increase if data are more imprecise

Which of the following is true of Type II error?

-Gives an estimated range of values which is likely to include the mean -Out of 100 samples with confidence intervals, 95 would contain the population mean -Are an estimate of the accuracy and precision of the mean

Which of the following is true of a 95% confidence interval?

They contain a gene-coding sequence without introns

Which of the following is true of cDNAs?

1) are among the most common diseases 2) typically have both genetic and environmental risk factors 3) typically have both genetic and environmental protective factors 4) run in families 5) are associated with many genetic risk factors that have small effects and reduced penetrance

Which of the following is true of multifactorial diseases? Multifactorial diseases

P-value less than 0.05 means obtaining that result purely by chance is less than 5%

Which of the following is true of p-values?

B, F Label B is right kidney and label F is left kidney

Which of the following labeled items in the CT scan are the kidneys?

Phospholipids

Which of the following lipids is amphipathic in nature?

-Northern blotting -RT-PCR with qPCR -Gene expression microarrays -Next generation sequencing with RT-PCR

Which of the following methods are used for quantifying the rates of transcription for specific genes?

Transmission electron microscopy

Which of the following microscopy preparations would you use to best visualize the intracellular organization of microtubules within cilia?

Cholesterol

Which of the following molecules listed below is a derived lipid?

ΔG0′

Which of the following parameters indicate whether the reaction, A → B, is thermodynamically favourable under standard state conditions at neutral pH?

GACGTC

Which of the following sequences is a DNA palindrome?

Periodic Acid-Schiff

Which of the following staining methods will best highlight changes in levels of stored glycogen in liver cells under fasting and fed conditions?

Periodic Acid-Schiff

Which of the following staining methods will clearly show changes in levels of stored glycogen in liver cells under fasting conditions?

Zonula occludens aka tight junctions separates the luminal space from the intercellular space

Which of the following statements about cell junctions is TRUE?

Zonula occludens separates the luminal space from the intercellular space.

Which of the following statements about cell junctions is TRUE?

Pain from the viscera feels like a somatic one

Which of the following statements better defines the "referred pain"?

It can be used to detect the lateral boundary of all epithelia

Which of the following statements concerning PAS staining is FALSE? Periodic Acid-Schiff

Axon terminals in neuro-muscular junctions are synaptic structures that release acetylcholine.

Which of the following statements concerning nerve terminals is True

Axon terminals in neuro-muscular junctions are synaptic structures that release acetylcholine.

Which of the following statements concerning nerve terminals is True?

Euchromatin consists of tightly packed inactive DNA

Which of the following statements concerning the nucleus is FALSE?

-The nucleolus is involved in the synthesizes and assembly of ribosomal RNA -Peripheral heterochromatin outlines the boundary of the nucleus in the light microscope. -The amount of euchromatin is related to transcriptional activity. -Nuclear pores are involved in the bi-directional transport of proteins

Which of the following statements concerning the nucleus is True?

They play a role in cell-cell recognition and nerve conduction

Which of the following statements is correct about membrane glycolipids?

Bind to ligands in the intracellular space

Which of the following statements is false regarding G-protein-coupled receptors?

Located midline between the right and left common carotid arteries

Which of the following statements is most accurate to describe the location/position of the thyroid gland?

-It is well developed in secretory cells -It is composed of membrane cisternae with dilated edges -It does not stain well with hematoxylin or eosin -It receives proteins from the rough ER

Which of the following statements regarding the Golgi apparatus is TRUE?

GCGCGCGCGC

Which of the following strands of DNA will have the highest Tm when paired with its complimentary strand?

Microtubules

Which of the following structures can NOT be resolved by light microscopy

DIAPHRAGM- Normal Quiet Inspiration: Descent of diaphragm expanding lung space in all three directions

Which of the following structures is the major structure of normal quiet inspiration.

Patient shows concrete operational cognitive ability

Which of the following would be the best documentation for this child's cognitive functioning? A child identifies two filled 5 ml beakers as having the same amount of water. The water from one of the beakers is poured completely into a wide cylinder. The child states that the two containers have the same amount of water.

membrane thickness​

Which one of the factors would need to be lower to contribute to the greater net flux of Solute A compared to Solute B shown in the graph assuming the solutes are of identical size and charge?​

Lactic acidosis

Which one of the following would be expected to occur after acute alcohol ingestion?

Alpha-1 adrenergic receptors

Which one of the receptor types would mediate its action by the activation of phospholipase C?

Glucosylcerebroside

Which one of these important compounds is a glycolipid and not a phospholipid?

Rough endoplasmic reticulum

Which organelle is illustrated in these electron micrographs of a typical cell (see image)?

label C

Which part of the ventricular system belongs to the rhombencephalon?

The presence of a refractory period at a location where an action potential has just passed

Which phenomenon explains the unidirectional propagation of action potentials?

MeCP2

Which protein binds to 5-methylcytosine to initiate epigenetic silencing?

Rho-GTP, look for the leading edge when you row

Which small G-protein acts as a switch to promote actin polymerization and branching at the leading edge of a moving cell?

-A drop in blood pressure can stimulate the release of adrenaline from the adrenal gland. -Baroreceptor signals are relayed via the nucleus of the solitary tract to autonomic centers in the reticular formation.

Which statement about the baroreceptor reflex is true?

-It involves regulation of both the SNS and PNS. -It can produce a coordinated increase in heart rate and strength of cardiac muscle contraction.

Which statement about the baroreceptor reflex is true?

Preganglionic muscarinic receptors close potassium channels and hyperpolarize neurons- Muscarinic receptors are at the postganglionic- Effects can be inhibitory or excitatory based on receptor

Which statement about the neurotransmitter receptors of autonomic neurons and their target neurons is false?

-At parasympathetic postganglionic synapses, different muscarinic receptor types are found in the gut and cardiovascular organs. -The targets of postganglionic sympathetic fibers use a wide variety of noradrenergic receptors. -The sweat glands are innervated by sympathetic cholinergic neurons ( ACH not NE)

Which statement about the neurotransmitter receptors of autonomic neurons and their target neurons is true

Nicotinic receptors are found at preganglionic synapses-

Which statement about the neurotransmitter receptors of autonomic neurons and their target neurons is true

An action potential occurs when the cell's membrane potential reaches threshold.

Which statement best describes the action potential?

Activation of G-protein-coupled receptor on postsynaptic cell

Which statement describes a possible outcome for a neurotransmitter after release into the synaptic cleft?

Ionotropic receptors have immediate effects; metabotropic receptors produce long-term effects. I for Ionotropic immediate

Which statement regarding metabotropic and ionotropic receptors is true?

Unmyelinated axons lack Schwann cells.

Which statement regarding myelination is FALSE?

ASO hybridization

Which technique would you use to look for known sequences differing by a single base mutation?

Transitional.

Which type of epithelium is particularly adapted to distension and recoil?

Desmin

Which type of intermediate filament is characteristic of muscle cells?

Insertions between 2 restriction sites Deletions between 2 restriction sites A base substitution occurring in a restriction site A SNP occurring in a restriction site A STR expansion A chromosomal structural abnormality

Which types of mutations can result in an RFLP

Inosine

Which unusual base is found in a tRNA anticodon and plays a role in 'Wobble' during translation?

Outward

Which way do most of the carbohydrates on plasma membrane glycoproteins face?

1) Ran-GTP just lasts longer in the nucleus, because there is no nuclear Ran-GAP 2) Ran-GTP is continuously made in the nucleus, because the Ran-GEP binds chromatin

Why is Ran-GTP always found in the nucleus, and Ran-GDP is always found in the cytosol?

Glycogen phosphorylase activity will be increased

You are examining the effects of an experimental compound on the metabolic activities of primary hepatocytes in culture. You discover that addition of your compound to these cells activates changes in metabolic fluxes highly similar to those induced by addition of glucagon. Determination of phosphate incorporation shows that several proteins become hyperphosphorylated following addition of the compound. Which of the following statements would most accurately reflect these changes?

Ependymal cells

You are unable to locate a CSF drainage blockage, leading you to consider that it may be caused by CSF overproduction. If this were the case, which of the following cell types is most likely involved?

Publication Bias

You do a literature search on the benefits of omega-3 fatty acid supplementation on preventing coronary artery disease but cannot find any article on it, despite many "nutritionists" and websites supporting its use. What type of bias may be present?

Cerebellum

You examine a tissue section from the central nervous system and see a single row of large cells located on a layer of small cells, and extending dendrites into a layer of neuropil with very few cells. Where was this section taken from?

Inadequate ribosome synthesis

You receive a biopsy for histopathology analysis of the pancreatic secretory cells from a patient exhibiting a wide range of digestive and metabolic symptoms. Analysis revealed abnormal appearance of the cell's nucleoli. Which of the following functional deficits are these cells most likely to experience?

Protein secretion

You receive an H&E stained sample for histopathological study and notice that it consists of clusters of cells with cytoplasmic regions of both basophilia and intense eosinophilia. The nuclei are highly euchromatic and contain prominent nucleoli. Which of the following most likely describes the function of these cells?

Constitutive exocytosis

You receive an H&E stained sample for histopathological study and notice that it consists of clusters of cells with entirely basophilic cytoplasm. You suspect that the cell's basophilia is caused by its rER content, and thus the cell must be actively involved in protein secretion. Which mechanism of transcellular vesicular transport do these cells most likely use

Black

You suspect he may experience the spontaneous pneumothorax, which is the lung collapse and free air in the lung cavity. The x-ray examination of the chest was performed.

Overdiagnosis; early forms

______is the result of diagnosis of "disease" that will never cause symptoms or death during a patient's ordinarily expected lifetime and is the result of screening for________of a disease.

Andersen Disease (Type IV) anderson is strait

accumulation of abnormal glycogen with few branch points

Failure of Nucleotide Excision Repair UV radiation- pyrimidine dimers normally fixed by excision nuclease XP

acute sunburn all over body biopsy of growth- squamous cell carcinoma. Which mechanism produce neoplasia ?

Heart M2- decrease SA node, decrease conduction AV node bradycardia Blood Vessels M3- vasodilation release of NO reflex mediated increase in heart rate tachycardia

affects of acetylcholine on body

-effects mitochondrial oxidative phosphorylation ***** -CNS and cardiovascular disturbances -Abdominal pain/diarrhea and hypersalivation -Cancers, especially lung, bladder and skin (palms and soles) -Hyperpigmentation/hyperkeratosis of palms and soles

affects of arsenic poisoning difficult to detect, looks like inf. disease -Soil and water eg Bangladesh; some areas of US well water -Agriculture herbicides; wood preservative

amino acids of muscle proteins are used to synthesize glucose in the liver

after glycogen is depleted- early fasting which happens after that

Apgar scale

appearance, pulse, grimace, activity, respiration

inhibits pyruvate dehydrogenase

arsenic poisoning

ionotropic receptors

associated with ligand-activated ion channels

Histone H1

associates with linker DNA as it enters and leaves the nucleosome core

-kicks a large ball -jumps, throws a ball overhand -uses 2 or three words together -speech 50-80% intelligible -says no often -engages in parallel play -can remove simple garment

at 24 months aka 2 years

Leukemias

atom bomb survivors

tachycardia facilitate av conduction dry mouth increases body temperature- look out in kids retention of urine- can be bad for old because worsen BBH

atropine effects

dilation- watch out for glaucoma in elderly suspensory ligament tight, flat thin lens vision fixed for far dry eyes

atropine effects on eye- kind of like sympathetic

Used for COPD and asthma

atropine like drug and use Ipratropium

Hot as a Hare, Dry as a Bone, Red as a Beet, Blind as a Bat, Mad as a Hatter

atropine overdose

contracts vascular smooth muscle contracts radial muscle for pupil dilation aka mydriasis

function of alpha 1 adrenergic receptors

decrease insulin secretion from beta cells increase glucagon secretion from alpha cell

function of alpha 2 adrenergic receptors

Choristoma

benign mass composed of tissues not found at the site of origin

Fibroma

benign tumor, originating from fibrous tissue, not hormone-secreting

Fructokinase deficiency aka Fructosoria

benign, fructose excreted in urine positive benedicts test recurrent UTI dehydration

simple columnar with goblet cells

best adapted to lubricate intestines

alkanize urine with sodium bicarbonate

best treatment for aspirin toxicity

insulin

beta cells of pancreas anabolic-storage of nutrients decreases- cAMP activates protein PHOSPHATASES

SH2 domain

binds phosphorylated tyrosine on cytoplasmic aspect of a protein kinase linked receptor. what is the domain

Rab-GTP

binds to a large number of Rab-effector proteins which mediate vesicle targeting

Hexamethonium, Mecamylamine

block nicotinic receptors, ganglionic blockers

cyanide on ETC

blocks the final transfer of electrons to oxygen Complex IV

ADH secretion will increase when

blood becomes more concentrated

Leukemia

blood cancer not a solid tumor

increase cardiac output renin secretion from kidneys

function of beta 1 adrenergic receptors

Hutchison-Gilford Progeria Syndrome

caused by a single-letter misspelling in a gene on chromosome 1 that codes for lamin A, a protein that is a key component of the membrane surrounding the cell's nucleus. The abnormal lamin A protein produced in HGPS is called progerin. HGPS is not usually passed down in families

How is the liver damage is via increase oxidative stress

caused by high amounts of acetaldehyde and ROS via the activation of the cytochrome P450 family. Notice that microsomal ethanol oxidizing system refers to the cytochrome 2E1 that oxidizes ethanol to acetaldehyde.

The sarcolemma is the

cell membrane of a muscle fiber

Rhombencephalon (hindbrain)

cerebellum, pons, medulla oblongata

Selectins

coat white blood cells and anchor them by providing friction

reduced ability to raise ATP levels

decreased insulin secretion could be related to this in pancreatic beta cells

defect in microtubules

decreased basal bodies, abnormal core of cilia

reason why cancerous cells lack structure

decreased cadherins

lower amounts of collagen fibers

decreased fibroblasts lead to

has a lot less dots

dense connective tissue

-Cerebellar ataxia and oculocutaneous telangiectasia dilated vessels; eye, ears and face -Mutation of ATM- ataxia telangiectasia, mutated -Defects in DNA damage signaling for p53 and DNA repair -Defective dsDNA repair by homologous recombination -Failure of cell cycle checkpoint system

describe Ataxia Telangiectasia

Impairment of DNA excision repair mechanisms -Cannot repair pyrimidine dimer formation ( defect) -especially susceptible to UVB carcinogenesis •Defect in nucleotide excision repair (NER) -multiple skin cancers from UV light

describe Xeroderma Pigmentosum

include external nose and nasal cavity

describe anatomy of nose

Extreme radiosensitivity Immunodeficiency Predisposition to cancer: lymphoma Sterility (defective meiotic recombination) Ocular & facial telangiectasia Multisystem syndrome Progressive neurodegeneration: Ataxia (hallmark)

describe features common to Ataxia Telangiectasia

histologic features of tumor determine how differentiated a tumor is how much does it resemble the surrounding tissue

describe grading

Lymphoma is a broad term for cancer that begins in cells of the lymph system.

describe lymphomas

Gluconeogenesis is a ubiquitous multistep process in which glucose is produced from lactate, pyruvate, or oxaloacetate, or any compound that can be converted to one of these intermediates.

describe process of gluconeogenesis

-Sulfation occurs in the Trans golgi

describe processing in the Golgi

large amounts of negative charge surrounded by a shell of hydration

describe relation between structure and function of GAGS

-Hep C does NOT involve virus incorporating into the genome for neoplastic potential No oncogene activation or viral oncoproteins -Hep B can incorporate into the genome but it is not necessary for malignancy Creates more genomic instability and increased risk

describe role of hepatitis B and C virus infection and liver cancer (hepatocellular)

How far has the tumor spread in the body Stage is more important than grade

describe staging

Dorsal root is top left part goes to spinal ganglion- Sensory ventral root is lower branch- Motor SAME DAVE

describe structure of spinal nerve

spinal nerve

describe structures in spinal nerve

•Teratomas are benign tumors composed of tissues derived from all three primary germ layers: ectoderm, mesoderm, and endoderm. They are most common in the ovary but also occur in the testis and extragonadal sites.

describe teratomas

primary secondary tertiary

describe the three levels of prevention

adenoma- benign

discrete small mass well differentiated -arising from epithelial surface

Pharmacokinetic tolerance

develops when the ability to metabolize or excrete the drug increases over time

muscles of forced inspiration

diaphragm, external intercostals, sternocleidomastoid, scalenes, pectoralis minor

very short and very thin and supply skin and muscle in close proximity to spinal cord

dorsal branches

sensory (afferent) neurons

dorsal column nuclei in the brainstem

bioequivalent drugs must have indentical Cmax, Tmax, and super imposable dose response curve

drugs that produce similar biological effects

relax vascular smooth muscle relax ciliary muscle for vision

function of beta 2 adrenergic receptors

ciliary muscle contracted sphincter contracted pupil narrow lens relaxed spherical for near vision

effect of ach on eye

Inhibitors of enzymes involved in degrading cAMP like cAMP phosphodiesterase would amplify catabolic reactions in the liver, muscle, and adipocytes. The amplified pathways would include glycogen degradation in muscle and liver, gluconeogenesis in the liver, and TAG lipolytic degradation in the adipocytes. Caffeine is commercially used in energy drinks (5 hour energy). The presence of methylxanthine/caffeine explains very well the energy releasing effects of coffee.

effect of inhibitors of enzymes that degrade cAMP

blocks muscarinic receptors

effects of atropine an anticholinergic, aka antimuscarinic drugs

stimulates lipolysis

function of beta 3 adrenergic receptors

Acanthocytosis (spur cell) -> Liver dx

elevated cholesterol synthesis Increase cholesterol RBC plasma membranes abnormal cells alcoholic liver disease liver cirrhosis

autonomic motor neurons

elevated lipofuscin granules withing ganglionic neurons

phenytoin zero order kinetics

elimination is not proportional to plasma concentration

DNA polymerase δ or ε

eukaryotic replication proteins with their function Synthesis of the leading strand:

DNA polymerase δ or ε

eukaryotic replication proteins with their function proofreading of the leading and lagging strand

Ligase

eukaryotic replication proteins with their function. Joining nicks between Okazaki fragments:

FEN1

eukaryotic replication proteins with their function. Removal of RNA primers

MCM-minichromosome maintenance (MCM) complex powers DNA strand separation of the replication forks of eukaryotes

eukaryotic replication proteins with their function. Separation of strands

DNA polymerase δ or ε

eukaryotic replication proteins with their function. Synthesis of Okazaki fragments

DNA polymerase α alpha for RNA priming

eukaryotic replication proteins with their function. Synthesis of the RNA primer

Confounding Bias Front end - Account for those biases by using inclusion/exclusion criteria, etc. Back end - Controlling for these other variables statistically

examining the association between exercise and heart disease and not controlling for age

-Hereditary Fructose Intolerance -Oculocutaneous Albanism, -Lysosomal Storage Diseases -Glycogen Storage Diseases

examples of autosomal recessive diseases

•Cystic Fibrosis •Thalassemias (alpha and beta thalassemia) •Sickle Cell Disease

examples of autosomal recessive diseases

Loss of function of normal DNA replication / repair genes High frequency chromosome & gene mutations : ↑ cancer risk - Xeroderma pigmentosum - Ataxia telangiectasia - Fanconi anemia

examples of chromosome instability syndromes

Malonate-TCA cycle Statins-Cholesterol synthesis

examples of competitive inhibitors

Myotonic Dystrophy Friedreich Ataxia Fragile X

examples of maternal expansion bias

Sucrose and Trehalose are

examples of non- reducing sugars

chondrosarcoma- grade of tumor more important than stage

exception to staging rule

polydipsia

excessive thirst

polyuria

excessive urination

Since cystic fibrosis is autosomal recessive, normally both parents must be carriers for a child to be affected. In this case, the mother is a carrier of a nonsense (null) mutation and the father is homozygous normal. If one parent is homozygous normal, a possible explanation for the occurrence of the disease in the child is uniparental isodisomy. The child received two-identical copies of the mother's mutant chromosome and no copy of the father's chromosome. The child is therefore homozygous for the mutation. Uniparental disomy can be confirmed by the fact that the fathers CA-repeat markers are not found on chromosome 7. Uniparental heterodisomy is not correct since heterodisomy would not result in a homozygous child. Nonpaternity is also incorrect since the father's CA-repeat alleles were found on many of the child's chromosomes but not 7. Aberrant imprinting or a reciprocal translocation could potentially disrupt the CFTR gene (or its expression), causing the disease, but would not result in homozygosity for the p.G542X mutation or the missing paternal CA-repeats on chromosome 7.

explain exception; cystic fibrosis is autosomal recessive, normally both parents must be carriers for a child to be affected.

Glucose-6-phophate has a dual role in glycogen metabolism. 1) It inhibits glycogen phosphorylase while it 2) activates glycogen synthase. The M isoform of PFK-1 is the only one expressed in the muscle, and partially used in the RBC leading to glycogen accumulation in the muscle and anemia.

explain the dual role of Glucose-6-phosphate in glycogen metabolism?

Pyruvate carboxylase deficiency

failure to thrive, developmental delay, recurrent seizures and a failure of the body to produce the necessary fuels for energy and neurotransmitters important for brain function

pyruvate kinase and PFK2

fasting for the past 3 days which enzymes inderectly inactivated by glucagon, cAMP, PKA pathway

C-peptide is packaged with insulin in secretory vesicles

fate of C-peptide

odd chain fatty acids

fatty acids cant be made by humans

-increased lipolysis -increases c-AMP -activates protein kinases -counter regulatory -alpha cells of pancreas

features of glucagon

-decreases c-AMP -activates protein PHOSPHATASES -Anabolic, storage of nutrients -beta cells of pancreas

features of insulin

solitary, peripherally located, popcorn pattern of calcification

features of pulmonary hamartoma

Activation of Wnt signaling pathway leads to uncontrolled cell growth

fm hist colon cancer hundreds of polyps irregular glands which molecular event occurs early in genesis of this disease?

reduce predominant tone ex: hexamethonium- blocks reflex bradychardia occurrs when phenylephrine causes vasoconstriction

ganglionic blockers

glucoserebrisides accumulate in macrophages

gaucher

Pyruvate carboxylase deficiency (PC deficiency)

genetic disorder present at birth characterized by failure to thrive, developmental delay, recurrent seizures and a failure of the body to produce the necessary fuels for energy and neurotransmitters important for brain function

Gain of function at the RNA level DM1 which is caused by CTG expansions in the 3'-UTR of the DMPK gene. The CTG expansion forms a hair-pin-like structure in the RNA which binds and sequesters RNA splicing factors.

genetic mechanism underlying myotonic dystrophy

Glucose-6-phosphatase

glucagon challenge performed to signal liver to secrete glucose but no change in serum glucose over baseline deficiency in which enzyme

Increased glycogenolysis increased gluconeogenesis increased lipolysis decreased liver glycolysis

glucagon release produces

then there is lower risk

if diamond is to the left of the line

Odds ratio greater than 1 means

greater odds of being exposed to a risk factor for those that have the disease versus those who do not have the disease

half is not enough cellular requirements not met Resulting disease will be dominant

haploinsufficiency

half is enough loss of function of one allele, expression of remaining allele can meet cells requirements Resulting disease will be recessive

haplosufficiency

Vinyl chloride exposure

has been associated with hepatic angiosarcomas

Randomize Stratify by disease severity Conduct intent-to-treat analysis

he best way to mitigate sampling biases is to

then there is higher risk

if diamond is to the right of the line

Lymph nodes Red bone marrow Thymus

he following organs constitute the lymphatic system

Beta 2 agonists

help asthma with?

Vitamin B1 (thiamine)

high levels of alpha ketoglutarate low levels of succinyl-CoA which enzyme is deficient

is worse prognosis- stage IV is worst

higher grade

angiosarcoma of liver

how are Vinyl Chloride, Arsenic and Thorotrast aka VAT carcinogenic -PVC pipe workers, arsenic poisoning, radiocontrast

LUNG AND BLADDER CANCER

how are polycyclic hydrocarbons toxic fossil fuel, burning coal SMOKING CIGARETTES

Point mutations- elderly carcinomas gene rearrangements gene amplification

how can RAS get constant activation

Normally CD8+ cytotoxic T-cells protect us from viral induced malignancies (along with NK cells) -However, they also contribute to inflammatory damage of the tissue, and produce: Increased proliferation Oxidative stress Reactive oxygen species

how do Oncogenic Viruses cause cancer eg:Hep B/C

Lymphatics Exceptions: Renal Cell Carcinoma- hematogenous spread Exception 2: GI Carcinoma metastasize liver venous blood drainage

how do carcinomas typically spread

The muscle participate in gluconeogenesis by providing amino acids such as alanine and glutamine. This carbon source is regulated, which means that during long periods of fasting more muscle mass is lost. Cortisol is the major hormonal player controling myosin degradation in the muscle during long periods of fasting.

how do the muscles participate in gluconeogenesis?

MECP2 is required to mediate the epigenetic effect of DNA methylation. After DNA is methylated on cytosines by a DNMT, the methylcytosine is recognized by MECP2 (or a different methyl cytosine binding protein). MECP2 then recruits a co-repressor complex which carries out the epigenetic silencing of the chromatin.

how does MECP2 involved in Rett Syndrome

ethanol consumption may affect liver metabolism and cause hypoglycemia via high NADH/NAD+, metabolic acidosis lactic and ketone acidosis

how does ethanol consumption effect liver metabolism besides oxidative stress

Southern Blotting Since repeats can be very large (2000+) PCR is not possible, so Southern blotting is necessary

how would you Detect fragile X syndrome FRAXA Expansions

glucose 6-phosphate to Pyruvate

if fructose 2, 6 bisphosphate is absent what process in liver is inhibited

SH2 domain

identified in the SRC proto oncogene

fibroblasts secreting collagen

increased extracellular matrix fibers in dense irregular connective tissue of skin. what cell type would cause this?

Cimetidine P450 interaction

increases plasma levels of warfarin and acenocoumarol by inhibiting cytochrome P450-dependent metabolism

Loss of protein function

indicate the corresponding etiological mutational mechanism. Fragile X:

Loss of protein function

indicate the corresponding etiological mutational mechanism. Friedreich Ataxia:

Gain of protein function

indicate the corresponding etiological mutational mechanism. Huntington Disease:

Gain of RNA function

indicate the corresponding etiological mutational mechanism. Myotonic Dystrophy:

Gain of protein function

indicate the corresponding etiological mutational mechanism. Spinocerebellar Ataxia:

beta blocker

proven track record to reduce fatality from MI

arsenic poisoning mechanism

inhibits lipoic acid cofactor for pyruvate dehydrogenase),makes glycolysis produce 0 net ATP instead of 2

glycogen synthase

insulin regulation- which enzyme is active in the dephosphorylated state

glycogen synthase regulation

insulin, g6p and glucose promote phosphatase activity that will dephosphorylate glycogen synthase. makes sense because increased glycolytic substrates and insulin promote glucose storage into glycogen.

Gluconeogenesis occurs in

liver and kidney

just below the stratified squamous epithelium in picture has a lot more dots

loose connective tissue

organs of the lymphatic system

lymph nodes, lymphatic vessels, thymus gland, spleen, tonsils

phosphorylation of mannose residues

mistargeting of lysosomal proteins involves defect in ?

HNPCC- Lynch Syndrome Colon cancer without polyps •Males: 90% risk colon cancer •Females: 70% risk colon cancer, 40 - 60% risk endometrial cancer- unique to Lynch Syndrome

most common form of hereditary colorectal cancer

Von Gierke's Disease

most common glycogen storage disease defect in glucose 6 phosphatase leads to periods of very low blood sugar between meals needs continuous feeding to maintain blood sugar levels glucose 6 phosphate builds up in the cell and cannot be broken down into glucose - so the liver enlarges and is damaged over time

XALD (X linked adrenoleukodystrophy)

most common peroxisomal disorder Lorenzo's oil defective breakdown of VLCFA's defect of transport of VLCFA's into peroxisome

Scopolamine Anticholinergic

motion sickness

For annual incidence rate take # new cases and divide by total population Then multiply by 100,00 This gives you the annual incidence rate per 100,000

n 1997 in Country X the population was 1,265,000, and there were 109 new cases of salmonellosis. Calculate the annual incidence rate of salmonellosis per 100,000 in Country X.

Removal of RNA primers Filling-in the gap created by primer removal

name prok DNA polymerase I functions

Synthesis of the leading strand: DNA polymerase III Synthesis of Okazaki fragments:DNA polymerase III Proofreading of the leading strand: DNA polymerase III Proofreading of the lagging strand: DNA polymerase III

name prok DNA polymerase III functions

1.Cranial nerves 2.Spinal nerves 3.Autonomic nerves 4.Associated ganglia

name the structures which belong to the peripheral nervous system

cerebral cortex grey matter

neurons whose cell bodies have characteristic pyramid shape

Choristoma

normal tissue aberrant tissue location; pancreatic tissue stomach wall

PAPS 3'-phosphoadenosine-5'-phosphosulfate

nucleotide activated intermediate that acts as common sulfate donor

odd chain fatty acids cant be syntheized by humans

odd cant be made

Atropine & pralidoxime anticholinergic drug

organophosphate poisoning

if p > 0.05, means there is no significant difference between how studies were done, so heterogeneity is lower

p greater than .05

respiratory alkalosis

parameters indicate ph=7.56 CO2=30 mm hg HCO3= 19 mmol/L

antidote to atropine poisoning

physostigmine

is firmly attached to surface of brain and spinal cord

pia matter

bilirubin and would probably only develop with severe hemolytic anemia

pigment stone gallstones are composed of?

vascular compartment

plasma bound drugs are restricted to the

recombinant insulin

produced in bacteria, from bacterial plasmids into which human DNA has been cloned

acetaldehyde

products of ethanol metabolism that lead to oxidative damage

1) Either present or absent 2) Multifactorial diseases are an example

properties of qualitative traits

1) Can be measured 2) Usually follow a normal Gaussian population distribution 3) Continuously variable within a certain range

properties of quantitative traits

Either present or absent Multifactorial diseases are an example

property of qualitative traits

Can be measured Usually follow a normal Gaussian population distribution Continuously variable within a certain range

property of quantitative traits

the carboxyl terminus of the protein

proteins anchored by GPI are covalently bound to the GPI by

g-protein involved in the genesis of numerous forms of cancer when the protein sustains specific mutations

proto oncogenic protein RAS

HER2/neu- older women without family history

protooncogene mutation breast cancer

Tachypnea

rapid breathing

Protein disulfide isomerase (PDI)

shuffles disulfides in a protein until a stable native disulfide is formed

Debranching enzyme alpha-1,6-glucosidase

small chain dextrin- like material within the cytosol of the hepatocytes= deficiency of

parasympathetic ganglion

small neuronal clusters situated outside of target organs such as the intestines and kidney.

Industry vs. Inferiority

stage 4:Erikson's stage between 5 and 13years, when the child learns to be productive, school etc.

identity vs. role confusion

stage 5: ag 13-21 Erikson's stage during which teenagers and young adults search for and become their true selves

Intimacy vs. Isolation

stage 6: 21 to 39 years Erikson's stage in which individuals form deeply personal relationships, marry, begin families

Protein secretion

stain consists of clusters of cells with cytoplasmic regions of both basophilia and intense eosinophilia. The nuclei are highly euchromatic and contain prominent nucleoli. Which of the following most likely describes the function of these cells?

Estimates the variability of the elements in a given set of data

standard deviation

2 times San Diego over square Nazi 2* SD/SS squared

standard error of mean

-It is a type of hemolytic anemia -There is a spectrin deficiency -RBCs are spheroidal and exhibit low deformability -Removal of spleen can improve symptoms -These cells are very unstable in the osmotic fragility test -NOT associated with chronic liver disease

statements about hereditary spherocytosis are correct,

terminal cisternae

stored calcium ions are released from what region

lines the esophagus

stratified squamos

Lines the esophagus

stratified squamous epithelium

Cerebralspinal Fluid (CSF)

subarachnoid space is filled with

glucose and fructose

sucrose

-Groupings of genes with related function that are co-regulated -Operon genes are located in close proximity to each other on a chromosome -Genes in an operon are often polycistronic -Operons include structural genes, regulatory regions and sometimes regulatory genes

true of operons

false Auscultation for vascular bruits should be done with the bell of the stethoscope.

true or false Auscultation for vascular bruits should be done with the diaphragm of the stethoscope.

One Schwan Cell myelinates one axon. One Axon is myelinated by several Schwann cells. Clefts of Schmidt Lanterman contain cytoplasm. Unmyelinated axons do not lack Schwann cells.

true statement regarding myelination is

Most neurons have many dendrites. Neurons have only one axon. Dendrites can branch out. Axons can branch out. Axons are thinner than dendrites.

true statements regarding neuronal morphology is

Incactive- glycogen synthase active phosphorylase kinase active- glycogen phosphorylase

type I diabetic who neglected to take insulin for 72 hours would have

Klinefelter Syndrome (XXY)

underdeveloped sex organs, breast development, large hands, and long arms and legs

Ion sequestration and release

unique function of sacrcoplsmic reticulum when compared to Smooth ER of other cells

Essential fructosuria

unlike hereditary fructose intolerance and classic galactosemia, this condition (fructokinase) is relatively benign. Although asymptomatic, their urine will test postitive for a reducing sugar that is not glucose due to unmetabolized fructose (copper reduction test would test for reducing sugar)

treats non obstructive urinary retention

use of bethanechol ( similar to acetylcholine ) a muscarinic receptor agonist of the cholinergic system

treats xerostomia aka dry mouth

use of pilocarpine a muscarinic receptor agonist of the cholinergic system

isocitrate to alpha-ketoglutarate

via isocitrate dehydrogenase RATE LIMITING oxidative decarboxylation releases NADH & CO2 6 C --> 5 C

loss of volume in both compartments increase in osmolarity in both compartments

volume and osmolarity shift for patient that is suffering from dehydration , excessive sweating and vomiting

dose/plasma concentration

volume of distribution =

vascular compartment

volume of distribution of 5 L where is main site of distribution

high lipid solubility

volumes of distribution of hundreds of thousands means

t 9, 22 translocation Philadelphia chromosome

weakness, lethargy. WBC increased chronic myelocytic leukemia

organophosphate compounds Nerve gas poisons

what are 2 irreversible anticholinesterase inhibitors

Edrophonium (Tensilon) Neostigmine Pyridostigmine Rivastigmine

what are 4 reversible anticholinesterase inhibitors used in medicine

mutations have not phenotypic consequence

what are passenger mutations

-Hepatic steatosis aka fatty acid accumulation within the liver -Hepatitis -Fibrosis aka excessive collagen production within the liver) -Cirrhosis and eventual liver death

what are some of the chronic effects of ethanol ingestion

-inhibition of gluconeogenesis -Lactic acidosis -Hyperuricemia aka your body producing too much uric acid o

what are the acute effects of alcohol ingestion

-elevated NADH/NAD+ ratio -Inhibition of fatty acid oxidation, -Ketogenesis -Hyperlipidemia, -inhibition of gluconeogenesis, Lactic acidosis and Hyperuricemia

what are the acute effects of alcohol ingestions

-Infusion of isotonic NaCl -excessive NaCl intake -SIADH

what are the three volume expansions for ICF/ECF diagrams

1) diarrhea 2) Lost in Desert 3) adrenal insufficiency

what are the three volume expansions for ICF/ECF diagrams

"Asian flush" or "alcoholic flush" is caused by the rapid accumulation of acetaldehyde during ethanol metabolism. Ethanol is rapidly converted to acetaldehyde by a fast-metabolizing alcohol dehdrogenase (from the ALD gene) and the acetaldehyde accumulates due to a slow-metabolizing aldehyde dehydrogenase (from the ALDH gene).

what causes asian flush or alcoholic flush

-caused by acetaldehyde and ROS reactive oxygen species production during ethanol metabolism.

what causes chronic effects of ethanol

bethanecol and pilocarpine

what cholinergic drugs act directly on muscarinic receptors

Varenicline aka Chantix Nicotine

what cholinergic drugs act directly on nicotinic receptors

evidence of invasion of surrounding tissue diagnosis of malignant neoplasms of endocrine system require documentation of invasion or metastases

what condition determined diagnosis of mass as malignant

pyruvate to oxaloacetate

what conversion is impaired in biotin deficiency

methylation deamination oxidation

what does base excision repair fix

pyrimidine dimers bulky lesions on single strand

what does nucleotide excision repair fix

Gliflozins (SGLT2 Inhibitors)

what drug class does *canagliflozin* belong to?

decrease membrane fluidity

what effect would DECREASED short chain phospholipids have on membrane fluidity

The ALD family of enzymes catalyses the first step of alcohol oxidation. The ALDH family of enzymes catalyzes the second step of the pathway.

what enzyme catalyzes the first step of alcohol oxidation

sugar-phospate backbone

what is A

base pair

what is B

minor groove

what is C

major groove

what is D

Causes Kaposi's Sarcoma HIV/AIDS (Epidemic type) Stages: Patch to plaques to nodules

what is Human Herpes Virus - 8 associated with

increased lipolysis

what is a function of glucagon

Cholesterol, Phosphatidylserine, Glucocerebroside and Sphingomyelin are NOT involved in the attachment of proteins to the outer leaflet of the plasma membrane.

which are not involved in attachment of proteins to the outer leaflet of the membrane?

Protein disulfide isomerase (PDI)

which functions as a multifunctional redox chaperone

length constant also time constant would increase

which neuronal property will decrease due to loss of myelin

glucuronic acid

which of the following sugars is exclusive to GAGS?

median effective dose

which parameter most likely increased when a patient has developed a tolerance to a drug

Hemoglobin A1c

which protein when glycosylated is an excellent measure of length of time that someone has suffered from an episode of hyperglycemia

AMP to ATP ratio

which ration increases during first few seconds of exercise?

Southern Blotting

which technique is preferred for measuring the size of the trinucleotide repeat sequence -Friedrich ataxia

made by axons of neurons

white mattter- ventral rootlet

Tay-Sachs (GM2 Gangliosidosis, Type 1)

•Mutations in HEXA •Encodes the α subunit of hexosaminidase A HexA and hexosaminidase S (Hex S)

Fragile X FRAXA Clinical Features in Males

•Intellectual disability (IQ 30-50), speech delay, hyperactivity, tantrums •Autism spectrum -Abnormal craniofacies -Long face, large ears, prominent forehead and ---- enlarged testis -gaze aversion •Others -joint hyperextensibility -Mitral valve prolapse, soft & smooth skin

Rett Syndrome

•Leading cause of intellectual disability in females -Many cases are diagnosed as autism •Onset 6-18mo with failure to meet milestones •Characteristic hand-wringing •Progressive microcephaly •~50% seizures

Gaucher Disease

•Autosomal Recessive •Mutations in GBA encoding β‑glucocerebrosidase •Lysosomal Storage Disease with accumulation of Glucocerebroside in macrophages which become lipid-filled and enlarged (Gaucher Cells)

X-linked recessive disorders

•Duchenne and Becker muscular dystrophy •Hemophilia A and B •Red-Green color blindness -hunter syndrome

Examples of AD Diseases

•Familial Hypercholesterolemia •Marfan Syndrome

Fragile X FRAXA Clinical Features in Females

•Heterozygous females have same physical and behavioral features seen in males with Fragile X syndrome but with lower frequency and milder involvement

Examples of AD Diseases

•Huntington Disease •Achondroplasia •Osteogenesis Imperfecta

Characteristics of Mitochondrial Inheritance

•Maternal Inheritance •Children of affected females are always affected (except with reduced penetrance) •Children of affected males are never affected

Tay Sachs Disease

•Onset at 6 - 12 months •Progressive neural degeneration •Loss of motor skills, responsiveness •Seizures •Loss of movement, hearing and vision •Cherry red spot at fovea centralis •Death at 2-5 years

Huntington disease (chorea) Autosomal Dominant

•Progressive loss of motor functions, death of motor neurons -Striatum, cerebral cortex •Onset in 30s-40s •Chorea •Difficulty walking, speaking, swallowing •Depression •Cognitive decline •Death ~15 years after diagnosis

Reactivation of cholinesterase

A 55-year-old farmer, brought unconscious to the emergency department, was salivating profusely and was incontinent about both urine and feces. His skin was warm and moist, pupils were pinpoint in size, and respiration was shallow. The attending physician administered an "oxime compound called pralidoxime" soon after the man arrived. The therapeutic effect of this agent is most likely mediated by which of the following molecular events?

M2 in SA node cells

A 55-year-old woman was admitted to the intensive care unit with a myocardial infarction. Four hours after admission the ECG indicated severe sinus bradycardia and an IV injection of atropine was given. The blockade of which of the following receptors most likely mediated therapeutic effect of the drug in this patient?

Pilocarpine- dry mouth from pillow carp

A 58-year-old man undergoes radiotherapy to treat a tumor in his neck. He developed salivary gland hypofunction, with associated dry mouth following radiotherapy. A drug that could be used to treat this patient's condition is:

Light-headedness on standing up

A 64-year-old man is having prazosin added to his drug regimen for relieving the symptoms of benign hypertrophy of prostate. He is started on a low dose and at bedtime to minimize which of the following adverse effects?

Dense regular connective tissue

A 67-year-old man presents to the clinic with complains of pain and visible swelling around his knee. Radiological imaging reveals a partial tear in his quadriceps tendon. What type of tissue are tendons composed of?

Simple columnar epithelium

A brush border of microvilli, specialized for the active transport of small molecules across the cell membrane, is typically found in which type of epithelium?

Simple columnar epithelium

A prominent brush border of microvilli, specialized for the active transport of small molecules across the cell membrane, is typically found in which type of epithelium?

Simple columnar epithelium.

A prominent brush border of microvilli, specialized for the active transport of small molecules across the cell membrane, is typically found in which type of epithelium?

1) S- smallest sarcomere 2) my- myofibibril 3) muscle cell 4) fasicle small, my, muscles, fast

Arrange from Smallest to largest

1) stand on patient right side 2) place right hand several inches below where you located lower margin of liver 3) bring left hand under patients back 4) ask patient to take deep breath 5) state that you felt the liver edge

Describe how to palpate liver during abdominal exam

ask if patient has any areas of complaint- if so do those last 1) palpate all 9 areas lightly with fingers flat- watching for pain and discomfort 2) tell patient you will be pressing harder. with both hands palpate all 9 areas

Describe palpation of abdominal area

Cartilage tissue

Ehlers-Danlos syndrome, a genetic condition affecting the assembly of collagen fibers. His specific mutation resulted in abnormal type 2 collagen fibers, but few disturbances to all other collagen types. Which of the following tissues is most affected in this patient?

Provide an additional layer of protection

Goblet cells and keratinization are functionally similar in that they both:

Abnormalities in which of the following structures would most likely be associated with bullous pemphigoid?

Hemidesmosomes

simple columnar epithelium

ID this tissue

Basement membrane

Identify the structure marked by the black arrows. Be specific.

Microvilli

Identify the structure within the green circle

loose connective tissue loose CT

Identify the type of tissue outlined by the blue box. Be specific.

Adipose tissue

Identify the type of tissue pictured in this image (on the right). Be specific.

It protects from wear and tear.

Images taken at different levels of magnification show an epithelially lined organ. Which statement describes the epithelium best (see image)?

Keratin. Malignant squamous cells produce large amounts of keratin, and these can be seen as nests of swirls that are diagnostic of squamous cell carcinoma.

Squamous cell carcinoma results in the formation of a disorganized, abnormal squamous epithelium. What might malignant squamous cells produce that would allow a pathologist to recognize this type of cancer?

Label C

Mutations in which of the labelled structures is most likely to cause abnormalities in the permeability of epithelial layers?

8)Percussion of all four quadrants 9)Percussion of liver span 10) Palpation performed lightly, all 4 quadrants / all 9 abdominal areas 11)Palpation performed deeply, all 4 quadrants / all 9 abdominal areas 12)Palpation of the liver during deepest inhalation 13 Palpation of the spleen in supine position during deepest inhalation 14)Palpation of the spleen in right lateral decubitus position during deepest inhalation 15)Palpation for abdominal aorta 16)Palpation while inspecting the patient's face for at least 50% of the time 17) Percussion over costovertebral angle (while patient is sitting)

Steps for abdominal exam part 2

1) appropriate draping table at 0̊ 2) correct order: inspection, auscultation, percussion, and palpation 3) Inspection with adequate exposure 4) Auscultation of one or more quadrants w diaphragm for at least 10 seconds at one point 5)Auscultation of the aorta with bell 6) Auscultation of renal arteries bilaterally with bell 7)Auscultation of iliac arteries bilaterally with bell

Steps for performing abdominal exam Part 1

1) undo top portion of back of patient gown- bed at 30 degrees 2) visual inspection of chest- look at intercostal spaces, scarring bruising assymetry, movement of lungs inspect trachea, not deviated from midline 3) for tactile fremitus- put hands on patient chest 4 X in a J shaped pattern- having patient say 99 when you put hands on chest 4) using same pattern place one hand flat on chest and tap with middle finger- 2 above nipple line, 2 below in J pattern 5) Now listen to chest- with diaphragm asking patient to take deep breaths- use same pattern 2 above nipple line, 2 below in J shaped pattern

Steps of chest exam part 1- front side

Dobutamine

acute cardiac failure

motility and lubrication

What are the functions of the cells in a pseudostratified, ciliated, columnar epithelium with goblet cells:

To organize the study search parameters of the systematic review and meta-analysis

What is the acronym PICOS used for?

respiratory tract trachea respiratory system

Where is the epithelium, pictured in the slide, normally located within the body?

Clonidine Clon down the hypertensions

Which of the following agents has the greatest ability to activate presynaptic autoreceptors, inhibit norepinephrine release, and decrease sympathetic outflow, and has been used in the treatment of hypertension?

β1 adrenoceptor

Which of the following autonomic receptors, following stimulation by an agonist, results in the activation of adenylate cyclase and an increase in cAMP as the major early component of signaling transduction?

Lymphocytes

Which of the following cell types is often found in loose connective tissue?

Fibroblasts

Which of the following cell types secretes collagen and elastic fibers in CT proper?

Preganglionic neurons are located in the thoracic and upper lumbar spinal cord

Which of the following is correct regarding the sympathetic neurons?

It is established at the start of the study, to include and exclude studies

Which of the following is true of PICOS?

The sympathetic postganglionic target tissue synapse

Which of the following receptors is most similar in structure to the receptor at synapses between the postganglionic parasympathetic neuron and its target tissue?

Contracts due to myosin and actin interactions

Which of the following statements best describes smooth muscle?

Enhancing parasympathetic activity

Which of the following strategies is most beneficial for improving bladder contractility after an injury to the sacral spinal cord?

Microtubules

Which of the following structures can NOT be resolved by light microscopy?

Region 1

Which of the regions of the sarcomere labeled in the image contains both thick and thin filaments?

Transitional

Which type of epithelium is particularly adapted to distension and recoil?

esophagus- stratified squamous

Which type of tissue and where most likely most likely obtained ?

work through all 9 areas, tapping on middle finger with right hand listen for sounds or dullness.

describe percussion in abdominal exam

β1-adrenoceptors stimulation effects

heart: ↑ heart rate, conduction and contractile force ↑ neural release of renin from juxtaglomerular apparatus (JGA) of the kidney

Vesicular monoamine transporter (VMAT)

his physician adds reserpine to his drug regimen, since it has a unique mechanism of action, and remains as a therapeutic option. The molecular target for this antihypertensive drug is inhibition of: (A 58-year-old man with severe hypertension who has not achieved his therapeutic goal for controlling his blood pressure after treatment with a combination of 4 different antihypertensive drugs for the past 6 months. Having exhausted the list of the most highly recommended drugs)

1) percuss upward from below umbilicus at mid clavicular line 2) when resonance changes to dullness that is lower edge of liver 3) starting at nipple line percuss downward until dull. this is upper margin of liver Normal estimate should be 6-12 cm

how do you percuss the liver span during abdominal exam

Inspection Auscultation Percussion Palpation

how is order of abdominal exam different from other areas of the body

1) reach left hand under left side of patient 2) using right hand fingers push up to palpate spleen 3) ask patient to take some deep breaths 4) ask patient to turn onto right side- repeat process

how to palpate for spleen during abdominal exam

α1 (Gq)

onset of increased difficulty urinating. symptoms of urinary difficulty began shortly after he started taking a nasal decongestant orally for cold symptoms. Which of the following types of receptors is most likely to be involved in this adverse effect?

1. Inspection 2. Palpation 3. Percussion 4. Auscultation

order of exam for chest

Zonula occludens separates the luminal space from the intercellular space

statements about cell junctions is TRUE

1) Have patient put arms back in gown- re- tie top of gown have patient sitting with legs on the left side of the table 2) have patient hug themself 3) do careful visual inspect back area- injuries, scars, bruising, tattoos 4) place both hands on back 4 times in a J pattern- each time that you touch back ask the patient to say "99" 5) Place both hands flat on patients back under rib cage and ask them to take 2 deep breaths in and out 6) Percussion- using J pattern with hand flat against back tap middle finger with right hand 7) diaphragm excursion- ask patient to take deep breath and hold it starting on top percuss until you feel dullness- 8) have patient release breath- tap up until you don't hear dullness. this should be about 3 cm

steps of chest exam part 2 - back side