USMLE 2

Question 1

Menkes disease

Answer 1

kinky hair disease
utation in ATP7A –> inability to transport copper into the bloodstream

copper deficiency, and all copper-requiring enzymes will be affected. Example: lysyl oxidase.

kinky, depigmented, lusterless hair + vascular, neurologic, facial and ocular manifestations

Question 2

recurrent neisseria infections. immune deficiency?

Answer 2

complement factors C5-9 (MAC)

Question 3

hepatomegaly and hypoglycemic seizures suggests

Answer 3

glycogen storage disease

Question 4

Von Gierke

Answer 4

Glucose 6-pohsphatase deficiency

autosomal recessive

fasting hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, hepatomegaly

glycogen accumulation in the LIVER

Question 5

Pompe

Answer 5

lysosomal alpha 1,4-glucosidase deficency

cardiomegaly, muscle weakness, death by 2

Question 6

ductal vs lobular breast carcinoma

Answer 6

ductal- numerous small invasive glandular structures surrounded by desmoplastic stromal response

lobular: single-file distribution of invasive cancer cells

Question 7

superior vena cava syndrome

Answer 7

facial plethora, faical and upper extremity swelling, dyspnea

goes with lung malignancy (small cell and squamous cell carcinoma)

Question 8

Gullain Barre cause

Answer 8

autoimmune attack on myelin of peripheral nerves. mechanism is simlar to MS

Question 9

Rubella vs Rubeola

Answer 9

Rubella- fine rash on torso, kid not very ill. Togavirus (single stranded RNA). Lymphadenopathy. Can be devastating congenital infection in preggos

Rubeola = measles. Paramyxovirus, 3 Cs: cough, coryza, conjunctivitis. Koplik spots
rash spreads ears to face, neck, hands, feet, trunk.

Question 10

what should we do with psoriatic arhtritis pt?

Answer 10

perform slit lamp exam for anterior uveitis

Question 11

Huntington’s. What do we find on autopsy?

Answer 11

degeneration of caudate nucleus (GABA-ergic neurons)

Question 12

wound healing timeline

Answer 12

First: platelets, fibrin clot

neutrophils (within an hour- 2 days)

3-5 days macrophages

finally, fibroblasts (one week)

Question 13

where do olfactory neurons go?

Answer 13

piriform cortex

Question 14

glucocorticoids and bone mass

Answer 14

prolonged use –> decreased bone mass and pathalogic fractures by increasing osteoclastic bone resorption and decreasing osteoblastic bone formation

Question 15

ovary cells are arrested where? (until ovulation)

Answer 15

primary oocytes arrested in the prophase stage of the 1st meiotic division

Question 16

difference between fibrin degradation products and D-dier

Answer 16

FDPs can result from degradatin of either fibrin or fibrinogen

D-dimer is formed ONLY from fibrin; more specific indicator of both thrombin and plasmin activity

Question 17

Lambert Eaton Syndrome. What kind of channels are dorked up?

Answer 17

voltage-gated calcium channels are dysfunctional –> acetylcholine release is impaired

Question 18

what are cataracts?

Answer 18

opacifications of the lens

glare from headlights - problem

Question 19

NMDA receptor and glutamate toxicity. What kind of receptor?

Answer 19

Two glutamate receptors: ionotropic (AMPA, kainate, NMDA) and metabotropic (GPCR: mGluR)

excitotoxicity- NMDA- permeable to Ca2+ and Na+.

***ligand-gated and voltage-gated

Question 20

C perfringens

Answer 20

gram +
anaerobic
spore-forming
–> gas gangrene

Alpha toxin

Question 21

Selective IgA deficiency –>

Answer 21

increased susceptibility to mucosal surface pathogens

Giardia lamblia- adheres to the surface of mucosa via a ventral sucking disk. IgA esp. important for this.

Question 22

Ischemic colitis

Answer 22

usually due to atherosclerosis or other occulsion

older patients w/ acute/ intermittent cramping, ab pain, bloody diarrhea

splenic flexure adn sigmoid colon common due to watershed zones

Question 23

end stage renal disease plus fractures, think

Answer 23

parathyroid hormone excess

Question 24

people who live at high altitude will have

Answer 24

lower arterial O2 and higher hematocrit

Question 25

Graves disease. What type of hypersensitivity?

Answer 25

Autoimmune, Type II noncytotoxic

Question 26

E coli

Answer 26

gram negative rod –> pneumonia, meningitis, and sepsis in neonates

oxidase negative
lactose-fermenting (pink on MacConkey agar)