Keyword associations Flashcards
aschoff bodies
necrotic granulomatous inflammation seen in rheumatic fever in heart
lysyl hydroxylase
defective collagen fibril cross linking–Ehler Danlos
FGF3 receptor defect
achondroplasia (dwarfism)
lysosomal α-1-4-glucosidase defect
Pompe’s disease
carbonic anhydrase II
osteoclasts cannot properly absorb bone –>osteopetrosis
hexosaminidase A defect
Tay Sachs–accumulation of GM2 ganglioside
sphingomyelinase defect
Niemann Pick–accumulation of sphingomyelin
B-glucocerebrosidase defect
Gaucher’s disease–accumulation of glucocerebroside
alpha-galactosidase a defect
Fabry’s disease– ceramide trihexoside
galactocerebrosidase defect
Krabbe’s Disease
chromosome 17 tumor supressor gene
p53–Li Fraumeni syndrome
iris speckling (brushfield spots)
Down’s Syndrome
blurry yellow vision
digoxin toxicity
brown stain with toluidine blue
metachromatic lipid cx of metachromatic leukodsystrophy; arylsulfatase A deficiency; accumulation of cerebrosidase sulfate
right-sided heart pathology in setting of diarrhea
carcinoid syndrome
hypersalivation, nystagmus, and tachycardia
PCP intoxication
statins + fibrates
increased risk of myositis and rhabdomyolysis
azathioprine + allopurinol
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
coarse facial features, diffuse joint stiffness, claw hand deformities, and kyphoscoliosis. Muscle biopsy reveals numerous intracytoplasmic inclusions in cells
I cell disease
Disulfiram-like drug reaction
disulfiram-like reactions include metronidazole, griseofulvin, chloramphenicol, chlorpropamide, and some cephalosporins including cefamandole and cefoperazone, tolbutamide
Good mnemonic for muscle sarcomere bands
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.
neurophysin point mutation
Carrier protein that binds to ADH and oxytocin in posterior pituitary. Can lead to autosomal dominant hypothalamic diabetes inspidus.
PAS + intestinal biopsy
stains glycoprotein of tropheryma whipplei brilliant pink (diastase negative) –Whipple’s Disease
craniopharyngioma
calcified cystic mass, remnant of Rathke’s pouch, pituitary gland derivative, cholesterol filled
euvolemic hyponatremia
SIADH
chronic lymphedema, hard violaceous cutaneous nodules
Angiosarcoma, Stewart-Treves syndrome
What drug to avoid in patient with BPH and depression?
TCAs–like amitryptiline have anticholinergic SEs that may worsen urinary retention.
chromosomal instability disorders
xeroderma pigmentosum, Fanconi anemia, Bloom’s syndrome, ataxia-telangectasia
hypermethylation disorders
Fragile X syndrome (hypermethylation, CGG repeats, FRM1 gene)
mismatch repair defect
Lynch syndrome (HNPCC)
jawpain with meal, tongue pain
temporal arteritis–get ESR
Waterhouse friedrichson syndrome
adrenal hemorrhage from meningococcal septicemia; hyponatremia, hyperkalemia, hypoglycemia
VIPoma
WDHA syndrome (watery diarrhea, hypokalemia, achlorhydria)
valproic acid in pregnancy
folate absorption inhibition, neural tube defects
pure RBC aplasia
parvo B19, thymoma, lymphocytic leukemia
non-cytotoxic Type 2 hypersensitivity reactions
4G’s: Graves disease, Gravis myasthenia, Gastric (pernicious) anemia, and Genetic (type II) diabetes
type 4 hypersensitivity reactions
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
drugs that cause drug induced SLE
hydralazine, procainamide, isoniazid, minocycline, quinidine
drug used to diagnose prinzmetal’s angina
ergonovine test; ergot alkaloid that stimulates alpha/dopa/serotonergic receptors–>vasoconstriction
destruction of bilateral adrenal glands, DIC, shock
Waterhouse Friedrichson, N meningitidis bacteremia
appetite suppressants: life threatening side effect?
RVH–fenfluramine, phentermine
poly ribosyl ribitol phosphate antibodies
immunity against Hib
