AAW - High yield grab bag Flashcards
(46 cards)
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, distal femur looks like an erlenmeyer flask, jewish descent
what disease
what enzyme
what accumulation
Gaucher
deficient beta-glucocerebrosidase
accumulated glucocerebroside - tissue paper lipid laden macrophages
peripheral neuropathy, angiokeratomas, hypohidrosis early on with renal failure and cardiovascular disease later
what disease
what enzyme
what accumulation
Fabry - x linked recessive
alpha galactosidase A def
ceramide trihexoside
jewish descent, progressive neurodegeneration, hepatosplenomegaly, foam cells, spot on the macula
what disease
what enzyme
what accumulation
niemann-pick - autosomal recessive
sphingomyelinase def
build up of sphingomyelin
progressive neurodegeneration, developmental delay, spot on macula, lysosomes with onion skin, no hepatosplenomegaly
what disease
what enzyme
what accumulation
tay-sachs - autosomal recessive
hexosaminidase A def
increased GM2 ganglioside
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
what disease
what enzyme
what accumulation
krabbe - autosomal recessive
Galactocerebrosidase def
galactocerebrosidase and psychosine buildup
central and peripheral demyelination with ataxia and dementia in an autosomal recessive pattern
what disease
what enzyme
what accumulation
metachromatic leukodystrophy
def in arylsulfatase A (arrow-sulfatase that’s broken)
build up is cerebroside sulfate (cerebral guy on side with sulfa matches)
developmental delay, gargoyle facies, airway obstruction, corneal clouding, hepatosplenomegaly
what disease
what enzyme
what accumulation
hurler syndrome - autosomal recessive - AKA mucopolysaccaridosis type 1
alpha-L-iduronidase def (cracked alpha afro on iditarod dog)
heparan sulfate and dermatan sulfate accumulation (hippie running and dear-man-tan with matches)
developmenral delay, gargoylsim, airway obstruction, aggressive behavior
what disease
what enzyme
what accumulation
hunter syndrome - x linked recessive
mild hurlers with aggressive behavior and no corneal clouding
iduronate sufatase def
accumulation of heparan sulfate, dermatan sulfate
how to calculate half life of a drug from volume of distribution and clearance rate in first order elimination
t1/2 = .7 (Vd) / CL
p.s. it takes 4-5 half lives for a drug to reach steady state concentrations
how do you calculate the steady state concentration of a drug from infusion rate and clearance
steady state concentration = infusion rate/clearance
what sweat glands are activated by sympathetic innervation? which by circulating catecholamines?
sympathetic innervation - eccrine - sweat to cool off
circulating catecholamines - apocrine - stinky sweat
coarse facies, abscess, retained primary teeth, dermatologic problems
what disease - what mech
what abnormal protein are you going to look for
job syndrome (autosomal dominant hyper IgE syndrome) - deficiency of Th17 cells due to STAT3 mutation -> impaired recruitment of neutrophils to site of infection because of impaired INF-gamma - get cold staph abscesses (no neutrophils - no hot inflammation)
look for elevated IgE
phenytoin causes what vit def
folate
Tx for organophosphate poisoning
pralidoxime
bug is cultured that is methecillin sensitive
what are some of the drugs that you give for it
dicloxacillin, nafcillin, oxacillin
the penicillinase resistant penicillins
the bug is s. aureus if they mention that it is methicillin resistant
name 5 drugs besides the macrolides that inhibit the 50s subunit
Chloramphenicol, Clindamycin, Linezolid, (and the streptogramins:) Quinupristin, Dalfopristin
CD markers for NK cells
CD16, CD56
patient wobbles when standing and has angiomas on skin with increased AFP in the blood
what syndrome
what are the genetics
what cancers are they at risk for
ataxia-telangiectasia - autosomal recessive
defects in the ATM tumor suppressor gene - failure to repair dsDNA
you also see decreased IgA
at risk for leukemias and lymphomas
define trismus
define tenesmus
trismus - lockjaw
tenesmus - sensation of needing to empty the bowel even though there may be little stool
somehow i mixed these up…
CGG repeat disease
fragile X syndrome
infant - small for age, club feet, coarse facial features, gingival hyperplasia, hoarse voice
what disease
I-cell
lack of phosphorylation of mannose residues at the cis-golgi
what is coryza
runny nose
treatment for cyanide
nitrite (to cause methemoglobinemia) and thiosulfate
odds ratio vs relative risk
definitions and formulas
Odds ratio - case control - Odds of exposure among the diseased / Odds of exposure among the healthy
ODDS OF EXPOSURE
(a/c) /(b/d)
Relative risk - cohort study - incidence of outcome with exposure / incidence of outcome without exposure
RISK OF DISEASE
a/(a+b) / c/(c+d)
