SIM2

Question 1

Peutz Jeghers

Answer 1

AD mut in serine/threonine kinase (chr 19)

Pigmented macules on lips and mouth
Hamartomatous polyps

Question 2

Liposarcoma

Answer 2

tumor of lipoblasts

nuclear indentations with scalloping of nuclear membrane

Question 3

Surfactant

Answer 3

type 2 pneumocytes

Premature infants and maternal diabetes

Question 4

Horner syndrome

Answer 4

miosis, ptosis, anhidrosis

due to apical carcinoma (pancost tumor) via compression of superior cervical ganglion

Question 5

alcoholic cerebellar degeneration

Answer 5

chronic nutrition deficiency and direct alcohol neurotoxicity

loss of purkinje cells of vermis

wide based ataxia and truncal instability
Tremor of fingers and diplopia can also be observed

Question 6

Meckel diverticulum

Answer 6

non obliterated vetelline duct

Px: painless, brisk GI bleed

may see heterotopic gastric or pancreatic mucosa

cs: volvulus, intussusception, obstruction

Question 7

HCM

Answer 7

AD
sudden death of adolescents and young adults
Mutation in beta-myosin heavy chain

Murmur: systolic crescendo-decrescendo that radiates to suprasternal notch, louder when patient stands (decreased preload and afterload)

Question 8

Split S2

Answer 8

A2: aortic
P2: pulmonic

1. complete right bundle branch block
2. pulm stenosis
   3 PAH

Question 9

IgA def

Answer 9

recurrent resp and gi infection s

low or absent IgA
normal B cell and concentrations of other Ig

Question 10

ROC

Answer 10

Sensitivity vs 1-specificity

area under cover represents accuracy

Question 11

Lynch syndrome

Answer 11

AD mut of mismatch repair genes leading to microsatellite instability

Colon, endometrial, and ovarian cancers

Ca-125+

Question 12

Calcineurin inhibitors

Answer 12

Tacromilus and cyclosporine

decreased transcription of iL-2 gene in t lymphocytes in response to ag stimulation

se: nephrotoxicity due to afferent and efferent arteriolar vasoconstriction and obliterative vasculopathy

Question 13

Metoclopramide

Answer 13

Used to treat vomiting and gastroparesis

Can cause de novo parkinsonian symptoms and trigger extrapyramidal reactions. therefore, should be avoided in patients with parkinson disease

Question 14

Alkaptonuria

Answer 14

AR
defect in homogentisic acid dioxygenase (HGD) in tyrosine metabolism

Increased homogentisic acid in urine (urine turns black)
Ochronosis (black-blue pigment in eyes, ears, nose)
Ochronotic osteoarthropathy (pigment deposition in spine and large joints)

Question 15

Tissue ischemia

Answer 15

Increase in extracellular K+

reduced extracellular Na, Ca, HCO3

Cytoplasmic Ca2+ accumulation

Question 16

Foam stability index

Answer 16

evaluates surfactant functionality

Question 17

Female athlete triad

Answer 17

1. insufficient caloric intake
2. amenorrhea (decreased GnRH, decreased LH and FSH, decreased estrogen)
3. osteoporosis

Question 18

Homocystinuria

Answer 18

Cystathione synthase deficiency

marfanoid habitus (downward lens dislocation) 
hypercoagulability
intellectual disability

Question 19

heparin vs warfarin in pregnancy

Answer 19

Heparin is water soluble and does not cross the placenta

warfarin is lipophilic and can cross placenta

Question 20

Reassortment

Answer 20

mixing of genomic segments in viruses that infect same host cell

results in antigenic shifts responsible for pandemics

Question 21

Recombination

Answer 21

gene exchange through crossing over of 2 DNA molecules

Question 22

Transformation

Answer 22

uptake of naked DNA by cells

rarely causes genomic changes in progeny virions

Question 23

hyperkalemia on EKG

Answer 23

1. peaked T waves
2 loss of P
3. prolonged PR
4. widened QRS
5. slowed rate

Question 24

Pineal gland tumor

Answer 24

upward gaze palsy, absent pupillary light reflex, impaired convergence
nausea vomiting
hydrocephalus

Question 25

Radial nerve

REM

Answer 25

Mid shaft humerus fracture

Hand and finger extensors

Question 26

Acitretin

Answer 26

Synthetic retinoid used to systemically treat psoriasis

Question 27

Aminoglycoside + beta lactam

Answer 27

beta lactam disrupts cell wall synthesis allowing aminoglycosides to penetrate the bacterial wall

Question 28

PFK-2,6BP

Answer 28

enzyme complex

PFK2,6 activated by insulin and increases formation of glycolysis

Question 29

C trachomatis infection

Answer 29

neutrophils with no organisms

tx: azithromycin (protein synthesis inhibitor)

Question 30

Probenecid

Answer 30

blocks organic anion transporters in renal tubular cells to inhibit tubular secretion

exp in penicillin

Question 31

follicular lymphoma

Answer 31

over expression of Bcl-2

tightly packed lymphoid follicles with small lymphocytes and cleaved nuclei

Question 32

defective proline hydroxylation

Answer 32

failure of triple helix formation and stabilization by pro-alpha chains

Question 33

Transduction

Answer 33

bacterial host DNA packaged into bacteriophage

way in which bacteria share genes with one another

Question 34

Uncal herniation

Answer 34

palsy of ipsilateral oculomotor CNIII

dilation and fixation of ipsilateral pupil