AAW - High yield grab bag Flashcards
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)
recurrent bacterial and enteroviral infections at like 7 months, absent/scanty lymph nodes and tonsils
decreased levels of some Igs
what is it
Bruton agammaglobulinemia - X - linked recessive
defect in the BTK gene - a tyrosine kinase
cannot form collagen triple helix - what disease
osteogenesis imperfecta
crosslinking of tropocollagen is done by what enzyme
name two diseases where this cross linking is not working properly
copper containing lysyl oxidase
problems with cross-linking: Ehlers-Danlos, Menkes disease
what collagen is defective in vascular Ehlers-danlos?
in classical type?
vascular - type 3
classical type - type 5
recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing delayed separation of umbilical cord
Leukocyte adhesion deficiency
deficiency in CD18 (LFA-1 integrin) protein on phagocytes, impaired chemotaxis, autosomal recessive
how do bacteria become resistant to aminoglycosides
modify the antibiotic via acetylation, phosphorylation, or adenylation
or modify their 30 s subunit
mech of cilastin
dehydropeptidase-1 inhibitor in the proximal tubule
stops metabolism of imipenim
Acanthosis is thickening of what layer of the epidermis?
what about hyperkeratosis
acanthosis - stratum spinosum
hyperkeratosis - stratum corneum
tranexamic acid is used for what?
reverses effects of TpA
aminocaproic acid is used for what?
mech?
reverses effects of TpA
competitively inhibits plasminogen activation
pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas, no atherosclerosis
what disease
what mech
what inheritance
what is increased in blood
type one familial dyslipidemia - hyperchylomicronemia
AR
Lipoprotein lipase or apolipoprotein C-II def
increased chylomicrons, TG, cholesterol - creamy layer in the supernatent
homozygote has cholesterol of 700+
MI before age 20
xanthomas on the achilles
corneal arcus
what disease
what mech
what inheritance
what is increased in blood
type two familial dyslipidemia - hypercholesterolemia
AD - heterozygotes have cholesterols around 300, homos >700
absent of defective LDL receptors
build up of LDL, cholesterol
hypertriglyceridemia (>1000)
pancreatitis, diabetes, coronary disease
what disease
what mech
what inheritance
what is increased in blood
type 4 familial dyslipidemia - hypertriglyceridemia
AD
hepatic overproduction of VLDL
build up of VLDL, TG
Etanercept
mech
use
Tumor necrosis factor alpha inhibitor (soluble receptor decoy protein - fusion protein linking a soluble TNF-alpha receptor to the Fc component of human immunoglobulin G1)
used in rheumatoid arthritis patients who have failed methotrexate alone
infliximab
mech
use
chimeric IgG1 antibody to TNF-alpha
manages rheumatoid arthritis and ankylosing spondylitis (and Crohn’s)
mneumonic for the enzymes that use vitamin B1
ATP
Alpha-ketoglutarate dehydrogenase (converts alpha ketoglutarate to succinyl coa in the krebs cycle)
Transketolase (final step in the HMP shunt in the cytosol)
Pyruvate dehydrogenase (converts pyruvate into acetyl-CoA)
GpI deficiency
bernard-soulier disease
defective adhesion to VwF - increased bleeding time and normal or decreased platelet count
unilateral cafe-au-lait spots, bunch of lytic looking lesions in the bone, precocious puberty, endocrine issues
Mccune-albright syndrome - only survivable if the person is genetically mosaic
fractures, blue sclera, hearing loss
osteogenesis imperfecta
type I collagen disorder
what portion of the optic tract is most likely knocked out if you shine a light into the left eye and both pupils constrict, but both pupils seems to dilate when you switch the light to the right eye
the left optic tract has a lesion
the nasal portion of the retina has more light sensing ability, and the nasal portion of the right retina is not innervated if the left optic tract is lesioned (left optic tract causes homonymous hemianopia of the contralateral visual field)
painful abdomen, dark urine, neuropathy, psychological disturbances,
acute intermittent porphyria - often precipitated by drugs, alcohols, starvation
defect in porphobilinogen deaminase
Tx: giving hemin and glucose decreases the activity of delta-Aminolevulinic acid synthetase, which stops the build up of delta-ALA and porphobilinogen (which relieves Sx)
blistering cutaneous photosensitivity, tan colored urine
porhyria cutanea tartda
defect in uroporphyrinogen decarboxylase
accumulation of uroporphyrin results in “tea colored” urine
