May 15th

Question 1

Phosphofructokinase-2 is upregulated by what? What is the product?

Answer 1

Upregulated by insuline; makes fructose-2,6-bisphosphate

Question 2

Phosphofructokinase-1 is upregulated and inhibited by what?

Answer 2

Upregulated by fructose-2,6-bisphosphate; inhibited by ATP and citrate

Question 3

What is the attack rate?

Answer 3

Ratio of number of individuals who become ill divided by the number of individuals who are at risk of contracting that illness

Question 4

Elevated alpha fetoprotein levels is seen in what?

Answer 4

Multiple gestation, open neural tube defects, abdominal wall defects

Question 5

What are the most common symptoms of NF-1?

Answer 5

Cafe-au-lait spots, multiple neurofibromas, Lisch nodules

Question 6

What is in the inheritance pattern of NF-1?

Answer 6

Single-gene autosomal dominant on chromosome 17

Question 7

What test differentiates Bernard-Soulier syndrome from vWF deficiency?

Answer 7

Both will have abnormal platelet aggregation to ristocetin; but when normal plasma is added, vWF disease is corrected

Question 8

How is pyruvate dehydrogenase deficiency managed?

Answer 8

Ketogenic diet - high fat, low carbohydrate; lysine and leucine are exclusively keotgenic

Question 9

What are the ketogenic amino acids?

Answer 9

Lysine and leucine

Question 10

What are the symptoms of pyruvate dehydrogenase def?

Answer 10

Neurologic defects and lactic acidosis

Question 11

What are three examples of antioxidant enzymes?

Answer 11

Superoxide dismutase; glutathione peroxidase, and catalase

Question 12

What is the TATA box?

Answer 12

Promoter region that binds TFs and RNA pol II during the initiation of transcription; approximately 25 bps upstream

Question 13

Ornithine transcarbamylase def. is characterized by what?

Answer 13

Hyperammonemia and elevated urinary orotic acid

Question 14

Uridine monophosphate synthetase def results in decreased synthesis of what?

Answer 14

Pyrimidines

Question 15

What are the characteristic findings in UMP Synthetase def?

Answer 15

Orotic acid buildup, but no hyperammonemia; megaloblastic anemia, not reversed with B12/Folate

Question 16

What is a drug that can be used in HIT?

Answer 16

Argatroban

Question 17

Brain tumor with pseudopalisading necrosis

Answer 17

GBM

Question 18

Which hydatidiform mole is p57-positive?

Answer 18

Partial mole

Question 19

What happens to peripheral resistance in response to epinephrine?

Answer 19

Decreases - due to beta > alpha effects

Question 20

High fever for 3-5 days followed by an erythematous maculopapular rash; starts on truck and spreads to the face

Answer 20

HHV-6 roseola infantum

Question 21

What is the most likely diagnosis of a Teenage boy with poorly developed secondary sexual characteristics and unable to distinguish smells? Pathology?

Answer 21

Kallmann syndrome; absence of GnRH secretory neurons in the hypothalamus due to defective migration from the olfactory placode

Question 22

Alkaptunuria is a deficiency in what enzyme? This enzyme plays a role in what pathway?

Answer 22

Def in homogentisic acid dioxygenase; blocks conversion of tyrosine to fumarate

Question 23

What pathogens are most often responsible for secondary bacterial pneumonia?

Answer 23

In order: S pneumo, S aureus and H influenzae

Question 24

S3 heart sound is indicative of what? When is it heard? Murmurs?

Answer 24

Rapid ventricular filling; hear early diastole in mitral regurg; HF, and dilated ventricles

Question 25

Where do venous stasis ulcers usually occur?

Answer 25

Medial malleolus

Question 26

What is the ligamentum flavum?

Answer 26

A strong elastic ligament supporting the posterior aspect of the spinal canal

Question 27

What characteristics are seen in Gerstmann syndrome?

Answer 27

Agraphia, acalculia, finger agnosia, left to right disorientation

Question 28

Gerstmann syndrome is a result of damage to what region on the brain?

Answer 28

Angular gyrus of the dominant parietal lobe

Question 29

What region on the spine is effected in rheumatoid arthritis?

Answer 29

Cervical

Question 30

What part of the spine is involved in osteoarthritis?

Answer 30

Lumbar spine

Question 31

What is apixaban?

Answer 31

Direct Xa inhibitor

Question 32

What is cilostazol? When is it used?

Answer 32

Phosphodiesterase inhibitor; occasionally used for claudication

Question 33

Biopsy of psoriasis reveals what?

Answer 33

Thin stratum granulosum and prominent parakeratotic stratum corneum with occasional foci of neutrophil accumulation

Question 34

Endocarditis with blood cultures revealing gram positive cocci that are catalase negative and able to grow in hypertonic saline and bile is likely to be what organism?

Answer 34

Enterococci