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Flashcards in Bullshit Memorization Stuff Deck (186)
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1

Fabry disease - deficient enzyme and accumulated substrate

Enzyme: alpha-galactosidase A
Accumulated substrate: ceramide trihexoside (globotriaosylceramide)
XR

2

Gaucher disease - deficient enzyme and accumulated substrate

Enzyme: glucocerebrosidase (beta-glucosidase)
Accumulated substrate: glucocerebroside
AR

3

Niemann-Pick disease - deficient enzyme and accumulated substrate

Enzyme: sphingomyelinase
Accumulated substrate: sphingomyelin
AR

4

Tay-Sachs disease - deficient enzyme and accumulated substrate

Enzyme: hexosaminidase A
Accumulated substrate: GM2 ganglioside
AR

5

Krabbe disease - deficient enzyme and accumulated substrate

Enzyme: galactocerebrosidase
Accumulated substrate: galactocerebroside, psychosine
AR

6

Metachromatic leukodystrophy - deficient enzyme and accumulated substrate

Enzyme: arylsulfatase A
Accumulated substrate: cerebroside sulfate
AR

7

Hurler syndrome - deficient enzyme and accumulated substrate

Enzyme: alpha-L-iduronidase
Accumulated substrate: heparan sulfate, dermatan sulfate
AR

8

Hunter syndrome - deficient enzyme and accumulated substrate

Enzyme: iduronate sulfatase
Accumulated substrate: heparan sulfate, dermatan sulfate
XR

9

sensitivity - define, equation

proportion of all people w/ disease who test positive, or probability that a test detects dz when a dz is present

sensitivity = TP/(TP+FN)

10

specificity - define, equation

proportion of all people w/o dz who test negative, or probability that test indicates no dz when dz is absent

specificity = TN/(TN+FP)

11

positive predictive value - define, equation

proportion of positive test results that are true positive

PPV = TP/(TP+FP)

12

negative predictive value - define, equation

proportion of negative test results that are true negative

NPV = TN/(TN+FN)

13

odds ratio - define, equation

odds that the group w/ the dz (cases) was exposed to a risk factor divided by odds that group w/o dz was exposed; typically used in case-control studies

OR = (a/c)/(b/d) = ad/bc = (a/b)/(c/d)

14

relative risk - define, equation

risk of developing dz in the exposed group divided by risk in the unexposed group; typically used in cohort studies

RR = a/(a+b)/c/(c+d)

15

attributable risk - define, equation

difference in risk b/w exposed and unexposed groups, or proportion of dz occurrences that are attributable to exposure

AR = a/(a+b) - c/(c+d)

16

relative risk reduction - define, equation

proportion of risk reduction attributable to intervention as compared to a control

RRR = 1 - RR

17

absolute risk reduction - define, equation

difference in risk (not the proportion) attributable to intervention as compared to control

ARR = c/(c+d) - a/(a+b)

18

number needed to treat - define, equation

number of pts who need to be treated for 1 pt to benefit

NNT = 1/ARR

19

number needed to harm - define, equation

number of pts who need to be exposed to a risk factor for 1 pt to be harmed

NNH = 1/AR

20

Reynold's pentad for cholangitis

Jaundice, Fever, RUQ pain, hypotension, AMS

21

stimulates bone and muscle growth

GH -> IGF-1

22

stimulates milk production

prolactin

23

stimulates milk secretion during lactation

oxytocin

24

responsible for female secondary sex characteristics

estrogen (estradiol primarily)

25

stimulates metabolic activity

T3/T4

26

increases blood glucose level and decreases protein synthesis

glucocorticoids

27

responsible for male secondary sex characteristics

testosterone

28

prepares endometrium for implantation/maintenance of pregnancy

progesterone

29

stimulates adrenal cortex to synthesize and secrete cortisol

ACTH

30

stimulates follicle maturation in females and spermatogenesis in males

FSH