misc

Question 1

chromosome 3 (2)

Answer 1

VHL, renal cell carcinoma

Question 2

chromosome 4 (1)

Answer 2

Huntington’s

Question 3

chromosome 5 (2)

Answer 3

APC, Cri-du-chat

Question 4

chromosome 7 (2)

Answer 4

CFTR, Williams

Question 5

chromosome 9 (1)

Answer 5

F. ataxia

Question 6

chromosome 11 (1)

Answer 6

WT1/2

Question 7

chromosome 15 (2)

Answer 7

Prader-Willi/Angelman

Question 8

chromosome 16 (1)

Answer 8

ADPKD

Question 9

chromosome 17 (2)

Answer 9

NF1, P53

Question 10

TGF beta

Answer 10

growth factor for tissue repair/regeneration

Question 11

baclofen

Answer 11

MOA: inhibits GABA at spinal level, inducing relaxation
USE: muscle spasm

Question 12

cyclobenzaprine

Answer 12

MOA: centrally acting skeletal mm. relaxant, structurally similar to TCAs
USE: mm. spasm

Question 13

bile acid resins (cholestyramine)

Answer 13

prevent intestinal reabsorption of bile acids so liver must use cholesterol to make more
ADR: chol gallstones, pts. don’t like it

Question 14

niacin

Answer 14

MOA: inhibits lipolysis in adipose tissue, reduces hepatic VLDL synthesis
ADR: flushing (aspirin), hyperglycemia (may need to adjust DM meds), hyperuricemia

Question 15

ezetimibe

Answer 15

MOA: prevent cholesterol absorption at small intestine brush border

Question 16

fibrates

Answer 16

MOA: upregulate LPL to increase TG clearance; activates PPAR to induce HDL synthesis
ADR: chol gallstones, myositis with statins

Question 17

anti-cardiolipin

Answer 17

SLE, antiphospholipid syndrome

Question 18

anticentromere

Answer 18

CREST syndrome

Question 19

anti-desmoglein

Answer 19

pemphigus vulgaris

Question 20

anti-Smith

Answer 20

SLE

Question 21

anti-glutamate decarboxylase

Answer 21

T1DM

Question 22

antihistone

Answer 22

drug-induced lupus

Question 23

antibodies in poly/dermatomyositis

Answer 23

anti-Jo-1, anti-SRP, anti-Mi-2

Question 24

antimicrosomal

Answer 24

Hashimoto

Question 25

anti-Scl-70

Answer 25

scleroderma (diffuse)

Question 26

anti-smooth muscle

Answer 26

autoimmune hepatitis

Question 27

anti-SSA, anti-SSB

Answer 27

Sjogren (anti-Ro, anti-La)

Question 28

anti-TSH

Answer 28

Graves

Question 29

IgA antiendomysial, IgA anti-tissue

Answer 29

Celiac disease

Question 30

anti-CCP

Answer 30

RA (also rheumatoid factor)

Question 31

theophylline

Answer 31

MOA: bronchodilation by inhibiting phosphodiesterase (increase cAMP) - blocks action of adenosine ADR: cardiotoxicity, neurotoxicity

Question 32

ipratropium

Answer 32

MOA: prevents bronchoconstriction; muscarinic antagonist USE: asthma, COPD

Question 33

beclomethasone, fluticasone

Answer 33

MOA: corticosteroids, inhibits cytokine synthesis

Question 34

montelukast, zafirlukast

Answer 34

MOA: block leukotriene receptors USE: aspirin-induced asthma

Question 35

zileuton

Answer 35

MOA: lipoxygenase pathway inhibitor, blocks synthesis of leukotrienes USE: asthma

Question 36

bosentan

Answer 36

MOA: antagonist of endothelia-1 receptors to decrease pulmonary vascular resistance USE: pulmonary arterial hypertension

Question 37

clindamycin

Answer 37

blocks peptide transfer at 50S USE: anaerobes below diaphragm ADR: pseudomembranous colitis

Question 38

shock types

Answer 38

hypovolemic/cardiogenic: low-output failure, vasoconstriction distributive (septic): high-output failure, vasodilation (warm, dry)

Question 39

I cell disease

Answer 39

defect in phosphotransferase so golgi doesn't phosphorylate mannose residues: proteins secreted extracellularly instead of to lysosomes - coarse features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes

Question 40

Hb conformation

Answer 40

T in Tissues (low O2 affinity) | R in Respiratory tract

Question 41

pacinian vs. meissner corpuscles

Answer 41

pacinian: pressure, vibration meissner: fine/light touch