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weak on Flashcards

1
Q

I cell disease problem and symptoms

A

n acetylglucosaminly 1 phosphate not adding mannose 6 P to get proteins to lysosomes
coarse facial features, clouded corneas, restricted joint movement and high plasma levels lysosomal enzymes, fatal in childhood

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2
Q

proteasome

A

ubiquitin

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3
Q

peroxisome

A

long fatty chain acids, branched chain fatty acids and aa

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4
Q

vimentin

A

CT stain

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5
Q

Na K ATPase direction

A

3Na out

2K in

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6
Q

diseases with problems cross linking collagen

A

ehlers danlos and menkes (lysyl oxidase)

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7
Q

heritance osteogenesis imperfecta

A

auto dom

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8
Q

signs menkes

A

kinky hair

growth retardation and hypotonia

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9
Q

li fraumeni malignancies

A

sarcoma, breast, leukemia adrenal gland

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10
Q

branching skin lesions, nose bleeds and skin discolorations with arteriovenous malformations, hematuria, GI bleeding

A

hereditary hemorrhagic telangiectasia, osler weber rendu

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11
Q

defect in hereditary spherocytosis

A

spectrin or ankyrin

get hemolytic anemia

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12
Q

enzymes increased in duchene

A

CPK and aldolase

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13
Q

myotonia muscle wastin cataracts, testicular atrophy , frontal balding and arrhythmia

A

myotonic type 1

auto dom CTG DMPK gene

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14
Q

fragile X Sx and mutation

A

2nd most common cause retardation, macroorchidism, long face large jaw, large everted ears, autism, mitral valve prolapse
CGG on FMR1

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15
Q

common chromosomal cause of miscarriage

A

unbalanced chromosomal translocation

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16
Q

pathways and enzymes involved that need thiamine

A

Glycolysis-TCA pyruvate dehydrog
TCA- alpha ketoglutarate dehydrog
HMP- transketolase
branched ketoacid dehydrogenase

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17
Q

how to avoid facial flushing with niacin

A

take aspirin

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18
Q

drugs that can cause folic acid deficiency

A

MTX
phenytoin
sulfonamides

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19
Q

vit C needed for what reactions

A

dopamine beta hydroxylase which converts dopamine to NE
hydroxylation of proline and lysine for collagen synthesis(corkscrew hair)

also helpful in methemoglobinemia

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20
Q

vit E deficiency Sx

A

hemolytic anemia
muscle weakness
post column and spinocerebellar degeneration
acanthocytosis

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21
Q

ratio NADH NAD in chronic alcoholism

A

inc NADH to NAD+

favoring lactic acidosis and fasting hypoglycemia and hepatosteatosis

22
Q

what metabolism pathways occur in mitochondria

A 
fatty acid oxidation (beta)
acetyl CoA production
TCA cycle
oxidative phos
ketogenesis
Heme, urea and gluconeogenesis (inside and out)
23
Q

after drinking fruit juice, child vomits, jaundiced with elevated liver enzymes and signs hypoglycemia

A

fructose intolerance
aldolase B auto recessive
limit fructose and sucrose

24
Q

infantile cataracts

A

galactokinase deficiency
autosomal recessive
if have HSM too and failure to thrive than classic– galactose 1 phos[hate uridyltransferase

25
Q

drug that decreases colon’s bacteria that produce ammonia

A

rifaximin

26
Q

what enzyme deficiencies can cause hyperammonia

A 
CPS I
N acetylglutamate synthase def
OTC def (x linked) and inc oroti acid
27
Q

precursor aa for dopa, NE and epi

A

phenylalanine

28
Q

tryptophan is a precursor for

A

niacin and serotonin= fanning because Im blushing

29
Q

toxic metabolit in alkaptonuria

A

homogentisic acid

30
Q

findings of homocysteinuria

A 
inc homcystein in urine
retardatino
osteoporosis
marfacnoid
kyphosis
lens subluxation
thrombosis
atheroslcerosis (MI and strokes)
31
Q

nitroprusside test

A

cysteinuria
defect in PCT
prevents absorption cysteine, ornithine, lysine, arginine

32
Q

peripheral neuropathy of hands an feet
angiokeratomas
CV
renal disease

A

Fabrys
X linked recessive
a galactosidase A
accumulate ceramide trihexoside

33
Q

lipid laden macros that look like crumpled tissue papaer in boy with HSM, and osteoporosis

A

gaucher auto rec

glucocerebrocidase

34
Q

cherry red spot macula and foam cells

A

neimenn pick auto rec

sphingomyelinase

35
Q

cherry red spot on macula and lysosomes with onion skinning

A

tay sachs
hexosaminidast accum GM ganglioside
auto rec

36
Q

lysosomal storage disease with ataxia and dementia

A

arylsulfatase A

metachromatic leukodystrophy

37
Q

accum heparant sulfate and dermatan sulfate

A

hunter - x linked no corneal clouding

hurler- auto rec corneal clouding

38
Q

with type IV dyslipidemia at risk for

A

acute pancreatitis
auto dominant
hepatic overproduction VLDL
inc inc TG

39
Q

what antimicrobial inhibits RNA polymerase therefore mRNA synthesis

A

rifampin

40
Q

what inhibits peptidoglycan synthesis

A

bacitracin and vanco

41
Q

inhbits 50S

A 
macrolides
streptogramins
chloramphenicol
clindamycin
linezolid
42
Q

penicillinase R penicillins used for

A

S aureus, not MRSA( altered penicillin binding protein)

43
Q

R to cephalosporings

A

penicillin binding proteiins

transpeptidases

44
Q

what antibiotic works on gram neg rods only

A

aztreonam
monobactam
inhibits PBP3
good for renal insuff patients or penicillin allergy

45
Q

toxicity AG

A

nephro and oto
can cause neurmusc block
is teratogen— CN VIII

46
Q

which inhibitor of 30S is bacteriocidal? bacteriostatic?

A

cidal- AG

bacteriostatic– tetracyclines

47
Q

R to tetracyclines

A

efflux pumps

dec uptake

48
Q

which drug blcoks rRNA 23

A

macrolids on 50s

49
Q

disrupts cell membranes of gram + cocci, not to be used for pneumonia

A

daptomycin

50
Q

disulfiram reaction, seen when

A

tachy, flushing, hypotension

metro + alcohol

Boards First Aid (3 decks)

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