USMLE Rx cards

Question 1

Equation for BMI

Answer 1

weight (kg)/ sq(height (m))

Question 2

Berylliosis is due to what exposure and what occupation

Answer 2

exposure to beryllium associated with aerospace industrial equipment

Question 3

silicosis is due to what exposure and what occupation?

Answer 3

silica dust, associated with foundry work, sandblasting mines, or masonry.

Question 4

47 XY, trisomy 21

Answer 4

downs syndrome

* non disjunciton mutation in all trisomys (look for older maternal age)

Question 5

47 XY, trisomy 13.

Answer 5

patau syndrome

Question 6

47 XY, trisomy 18

Answer 6

edwards syndrome

Question 7

46 XY, deletion at 5p

Answer 7

Cru-de-chat

Question 8

46 XY, microdeletion at 22q11

Answer 8

di george

Question 9

46 XY, microdeletion at 7p

Answer 9

Williams syndrome, which presents with “elfin” facies.

Question 10

Oxidase positivity and maltose fermentation bacteria

Answer 10

neisseria meningitidis

Question 11

Bile insensitivity and variable hemolysis bacteria

Answer 11

enterococcus

Question 12

finding of nitrites and leukocyte esterase on dipstick

Answer 12

just indicates there are bacteria present

Question 13

first gen sulfonylureas unique adverse effect

Answer 13

disulfram like reaction (nausea and vomiting)

Question 14

Defect in degradation of branched-chain amino acids

Answer 14

maple syrup urine disease (nervous system defects)

Question 15

deletion of short arm of chromosome 5

Answer 15

cri-du-chat

Question 16

intracellular glycogen accumulation

Answer 16

many metabolic diseases that may manifest with neurological and cardiac involvement

Question 17

uniparental disomy

Answer 17

prader-willi and angelman disorders which are both disorders of imprinting

Question 18

deformities of patau syndrome

Answer 18

-intellectual disability
-rock-bottom feet
-micophthalmia
-microcephaly
-cleft lip/palate
-holopreosencephaly
-polydactyly
-congenital heart disease
-polycystic kiendy disease
-cutis aplasia
(lots of P’s, think puberty begins at 13)

Question 19

physical findings of homocystinuria

Answer 19

• MI at a young age
• tall marfanoid habitus
• downward and inward lens subluxation

Question 20

three causes of homocystinuria

Answer 20

(1) cystathionine synthase deficiency
(2) decreased affinity to cystathionine synthase for pyridoxal phosphate
(3) methionine synthase deficiency (uses B12)

Question 21

what is the job (2) of cystathionine synthase

Answer 21

(1) converts homocystine to cystathionine
(2) converts B6 into pyridoxal phosphate which is used in various reacitons in clusing transamination, decarboxylation, and glycogen phosphorylase

Question 22

treatment for cystationine synthase deficiency

Answer 22

1) resitriciton of methionine

2) increase cysteine, B12, B6 and folate in diet

Question 23

treatment for decreased affinitiy

Answer 23

1) increase B6 and cysteine intake in diet

Question 24

methionin synthase deficiency treatment

Answer 24

increase methioning in the diet

Question 25

Adenosine deaminase deficiency

Answer 25

SCID

Question 26

tyrosinase deficiency

Answer 26

albinism