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