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*First Aid in Brainscape* > AAW - High yield grab bag > Flashcards

AAW - High yield grab bag Flashcards

1
Q

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, distal femur looks like an erlenmeyer flask, jewish descent

what disease
what enzyme
what accumulation

A

Gaucher

deficient beta-glucocerebrosidase

accumulated glucocerebroside - tissue paper lipid laden macrophages

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2
Q

peripheral neuropathy, angiokeratomas, hypohidrosis early on with renal failure and cardiovascular disease later

what disease
what enzyme
what accumulation

A

Fabry - x linked recessive

alpha galactosidase A def
ceramide trihexoside

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3
Q

jewish descent, progressive neurodegeneration, hepatosplenomegaly, foam cells, spot on the macula

what disease
what enzyme
what accumulation

A

niemann-pick - autosomal recessive

sphingomyelinase def

build up of sphingomyelin

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4
Q

progressive neurodegeneration, developmental delay, spot on macula, lysosomes with onion skin, no hepatosplenomegaly

what disease
what enzyme
what accumulation

A

tay-sachs - autosomal recessive

hexosaminidase A def

increased GM2 ganglioside

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5
Q

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

what disease
what enzyme
what accumulation

A

krabbe - autosomal recessive

Galactocerebrosidase def

galactocerebrosidase and psychosine buildup

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6
Q

central and peripheral demyelination with ataxia and dementia in an autosomal recessive pattern

what disease
what enzyme
what accumulation

A

metachromatic leukodystrophy

def in arylsulfatase A (arrow-sulfatase that’s broken)

build up is cerebroside sulfate (cerebral guy on side with sulfa matches)

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7
Q

developmental delay, gargoyle facies, airway obstruction, corneal clouding, hepatosplenomegaly

what disease
what enzyme
what accumulation

A

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)

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8
Q

developmenral delay, gargoylsim, airway obstruction, aggressive behavior

what disease
what enzyme
what accumulation

A

hunter syndrome - x linked recessive

mild hurlers with aggressive behavior and no corneal clouding

iduronate sufatase def

accumulation of heparan sulfate, dermatan sulfate

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9
Q

how to calculate half life of a drug from volume of distribution and clearance rate in first order elimination

A

t1/2 = .7 (Vd) / CL

p.s. it takes 4-5 half lives for a drug to reach steady state concentrations

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10
Q

how do you calculate the steady state concentration of a drug from infusion rate and clearance

A

steady state concentration = infusion rate/clearance

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11
Q

what sweat glands are activated by sympathetic innervation? which by circulating catecholamines?

A

sympathetic innervation - eccrine - sweat to cool off

circulating catecholamines - apocrine - stinky sweat

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12
Q

coarse facies, abscess, retained primary teeth, dermatologic problems

what disease - what mech

what abnormal protein are you going to look for

A

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

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13
Q

phenytoin causes what vit def

A

folate

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14
Q

Tx for organophosphate poisoning

A

pralidoxime

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15
Q

bug is cultured that is methecillin sensitive

what are some of the drugs that you give for it

A

dicloxacillin, nafcillin, oxacillin

the penicillinase resistant penicillins

the bug is s. aureus if they mention that it is methicillin resistant

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16
Q

name 5 drugs besides the macrolides that inhibit the 50s subunit

A

Chloramphenicol, Clindamycin, Linezolid, (and the streptogramins:) Quinupristin, Dalfopristin

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17
Q

CD markers for NK cells

A

CD16, CD56

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18
Q

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

A

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

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19
Q

define trismus

define tenesmus

A

trismus - lockjaw

tenesmus - sensation of needing to empty the bowel even though there may be little stool

somehow i mixed these up…

20
Q

CGG repeat disease

A

fragile X syndrome

21
Q

infant - small for age, club feet, coarse facial features, gingival hyperplasia, hoarse voice

what disease

A

I-cell

lack of phosphorylation of mannose residues at the cis-golgi

22
Q

what is coryza

A

runny nose

23
Q

treatment for cyanide

A

nitrite (to cause methemoglobinemia) and thiosulfate

24
Q

odds ratio vs relative risk

definitions and formulas

A

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)

25
Q

recurrent bacterial and enteroviral infections at like 7 months, absent/scanty lymph nodes and tonsils

decreased levels of some Igs

what is it

A

Bruton agammaglobulinemia - X - linked recessive

defect in the BTK gene - a tyrosine kinase

26
Q

cannot form collagen triple helix - what disease

A

osteogenesis imperfecta

27
Q

crosslinking of tropocollagen is done by what enzyme

name two diseases where this cross linking is not working properly

A

copper containing lysyl oxidase

problems with cross-linking: Ehlers-Danlos, Menkes disease

28
Q

what collagen is defective in vascular Ehlers-danlos?

in classical type?

A

vascular - type 3

classical type - type 5

29
Q

recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing delayed separation of umbilical cord

A

Leukocyte adhesion deficiency

deficiency in CD18 (LFA-1 integrin) protein on phagocytes, impaired chemotaxis, autosomal recessive

30
Q

how do bacteria become resistant to aminoglycosides

A

modify the antibiotic via acetylation, phosphorylation, or adenylation

or modify their 30 s subunit

31
Q

mech of cilastin

A

dehydropeptidase-1 inhibitor in the proximal tubule

stops metabolism of imipenim

32
Q

Acanthosis is thickening of what layer of the epidermis?

what about hyperkeratosis

A

acanthosis - stratum spinosum

hyperkeratosis - stratum corneum

33
Q

tranexamic acid is used for what?

A

reverses effects of TpA

34
Q

aminocaproic acid is used for what?

mech?

A

reverses effects of TpA

competitively inhibits plasminogen activation

35
Q

pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas, no atherosclerosis

what disease
what mech
what inheritance
what is increased in blood

A

type one familial dyslipidemia - hyperchylomicronemia

AR

Lipoprotein lipase or apolipoprotein C-II def

increased chylomicrons, TG, cholesterol - creamy layer in the supernatent

36
Q

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

A

type two familial dyslipidemia - hypercholesterolemia

AD - heterozygotes have cholesterols around 300, homos >700

absent of defective LDL receptors

build up of LDL, cholesterol

37
Q

hypertriglyceridemia (>1000)

pancreatitis, diabetes, coronary disease

what disease
what mech
what inheritance
what is increased in blood

A

type 4 familial dyslipidemia - hypertriglyceridemia

AD

hepatic overproduction of VLDL

build up of VLDL, TG

38
Q

Etanercept

mech
use

A

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

39
Q

infliximab

mech
use

A

chimeric IgG1 antibody to TNF-alpha

manages rheumatoid arthritis and ankylosing spondylitis (and Crohn’s)

40
Q

mneumonic for the enzymes that use vitamin B1

A

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)

41
Q

GpI deficiency

A

bernard-soulier disease

defective adhesion to VwF - increased bleeding time and normal or decreased platelet count

42
Q

unilateral cafe-au-lait spots, bunch of lytic looking lesions in the bone, precocious puberty, endocrine issues

A

Mccune-albright syndrome - only survivable if the person is genetically mosaic

43
Q

fractures, blue sclera, hearing loss

A

osteogenesis imperfecta

type I collagen disorder

44
Q

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

A

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)

45
Q

painful abdomen, dark urine, neuropathy, psychological disturbances,

A

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)

46
Q

blistering cutaneous photosensitivity, tan colored urine

A

porhyria cutanea tartda

defect in uroporphyrinogen decarboxylase

accumulation of uroporphyrin results in “tea colored” urine

*First Aid in Brainscape* (37 decks)

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