Keyword associations

Question 1

aschoff bodies

Answer 1

necrotic granulomatous inflammation seen in rheumatic fever in heart

Question 2

lysyl hydroxylase

Answer 2

defective collagen fibril cross linking–Ehler Danlos

Question 3

FGF3 receptor defect

Answer 3

achondroplasia (dwarfism)

Question 4

lysosomal α-1-4-glucosidase defect

Answer 4

Pompe’s disease

Question 5

carbonic anhydrase II

Answer 5

osteoclasts cannot properly absorb bone –>osteopetrosis

Question 6

hexosaminidase A defect

Answer 6

Tay Sachs–accumulation of GM2 ganglioside

Question 7

sphingomyelinase defect

Answer 7

Niemann Pick–accumulation of sphingomyelin

Question 8

B-glucocerebrosidase defect

Answer 8

Gaucher’s disease–accumulation of glucocerebroside

Question 9

alpha-galactosidase a defect

Answer 9

Fabry’s disease– ceramide trihexoside

Question 10

galactocerebrosidase defect

Answer 10

Krabbe’s Disease

Question 11

chromosome 17 tumor supressor gene

Answer 11

p53–Li Fraumeni syndrome

Question 12

iris speckling (brushfield spots)

Answer 12

Down’s Syndrome

Question 13

blurry yellow vision

Answer 13

digoxin toxicity

Question 14

brown stain with toluidine blue

Answer 14

metachromatic lipid cx of metachromatic leukodsystrophy; arylsulfatase A deficiency; accumulation of cerebrosidase sulfate

Question 15

right-sided heart pathology in setting of diarrhea

Answer 15

carcinoid syndrome

Question 16

hypersalivation, nystagmus, and tachycardia

Answer 16

PCP intoxication

Question 17

statins + fibrates

Answer 17

increased risk of myositis and rhabdomyolysis

Question 18

azathioprine + allopurinol

Answer 18

aplastic anemia, fatal hematologic disorders: azathiprine is metabolized to 6-MP which is inactivated by xanthine oxidase (but is inhibited by allopurinol). toxic 6-MP buildup

Question 19

coarse facial features, diffuse joint stiffness, claw hand deformities, and kyphoscoliosis. Muscle biopsy reveals numerous intracytoplasmic inclusions in cells

Answer 19

I cell disease

Question 20

Disulfiram-like drug reaction

Answer 20

disulfiram-like reactions include metronidazole, griseofulvin, chloramphenicol, chlorpropamide, and some cephalosporins including cefamandole and cefoperazone, tolbutamide

Question 21

Good mnemonic for muscle sarcomere bands

Answer 21

An Interesting Zoo Must Have Mammals: Actin in the I-band attached at the Z-line. Myosin in the H-band attaches at the M-line.

Question 22

neurophysin point mutation

Answer 22

Carrier protein that binds to ADH and oxytocin in posterior pituitary. Can lead to autosomal dominant hypothalamic diabetes inspidus.

Question 23

PAS + intestinal biopsy

Answer 23

stains glycoprotein of tropheryma whipplei brilliant pink (diastase negative) –Whipple’s Disease

Question 24

craniopharyngioma

Answer 24

calcified cystic mass, remnant of Rathke’s pouch, pituitary gland derivative, cholesterol filled

Question 25

euvolemic hyponatremia

Answer 25

SIADH

Question 26

chronic lymphedema, hard violaceous cutaneous nodules

Answer 26

Angiosarcoma, Stewart-Treves syndrome

Question 27

What drug to avoid in patient with BPH and depression?

Answer 27

TCAs--like amitryptiline have anticholinergic SEs that may worsen urinary retention.

Question 28

chromosomal instability disorders

Answer 28

xeroderma pigmentosum, Fanconi anemia, Bloom's syndrome, ataxia-telangectasia

Question 29

hypermethylation disorders

Answer 29

Fragile X syndrome (hypermethylation, CGG repeats, FRM1 gene)

Question 30

mismatch repair defect

Answer 30

Lynch syndrome (HNPCC)

Question 31

jawpain with meal, tongue pain

Answer 31

temporal arteritis--get ESR

Question 32

Waterhouse friedrichson syndrome

Answer 32

adrenal hemorrhage from meningococcal septicemia; hyponatremia, hyperkalemia, hypoglycemia

Question 33

VIPoma

Answer 33

WDHA syndrome (watery diarrhea, hypokalemia, achlorhydria)

Question 34

valproic acid in pregnancy

Answer 34

folate absorption inhibition, neural tube defects

Question 35

pure RBC aplasia

Answer 35

parvo B19, thymoma, lymphocytic leukemia

Question 36

non-cytotoxic Type 2 hypersensitivity reactions

Answer 36

4G's: Graves disease, Gravis myasthenia, Gastric (pernicious) anemia, and Genetic (type II) diabetes

Question 37

type 4 hypersensitivity reactions

Answer 37

Guillain Hashimoto Contacts Multiple PPD+ Type I Diabetic 4 a Graft: Guillain Barre Syndrome; Hashimoto thyroiditis; Contact Dermatitis; Multiple Sclerosis; PPD test; Type I Diabetes; Graft vs. Host disease

Question 38

drugs that cause drug induced SLE

Answer 38

hydralazine, procainamide, isoniazid, minocycline, quinidine

Question 39

drug used to diagnose prinzmetal's angina

Answer 39

ergonovine test; ergot alkaloid that stimulates alpha/dopa/serotonergic receptors-->vasoconstriction

Question 40

destruction of bilateral adrenal glands, DIC, shock

Answer 40

Waterhouse Friedrichson, N meningitidis bacteremia

Question 41

appetite suppressants: life threatening side effect?

Answer 41

RVH--fenfluramine, phentermine

Question 42

poly ribosyl ribitol phosphate antibodies

Answer 42

immunity against Hib