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Bullshit Memorization Stuff Flashcards

1
Q

Fabry disease - deficient enzyme and accumulated substrate

A

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

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2
Q

Gaucher disease - deficient enzyme and accumulated substrate

A

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

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3
Q

Niemann-Pick disease - deficient enzyme and accumulated substrate

A

Enzyme: sphingomyelinase
Accumulated substrate: sphingomyelin
AR

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4
Q

Tay-Sachs disease - deficient enzyme and accumulated substrate

A

Enzyme: hexosaminidase A
Accumulated substrate: GM2 ganglioside
AR

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5
Q

Krabbe disease - deficient enzyme and accumulated substrate

A

Enzyme: galactocerebrosidase
Accumulated substrate: galactocerebroside, psychosine
AR

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6
Q

Metachromatic leukodystrophy - deficient enzyme and accumulated substrate

A

Enzyme: arylsulfatase A
Accumulated substrate: cerebroside sulfate
AR

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7
Q

Hurler syndrome - deficient enzyme and accumulated substrate

A

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

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8
Q

Hunter syndrome - deficient enzyme and accumulated substrate

A

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

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9
Q

sensitivity - define, equation

A

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)

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10
Q

specificity - define, equation

A

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)

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11
Q

positive predictive value - define, equation

A

proportion of positive test results that are true positive

PPV = TP/(TP+FP)

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12
Q

negative predictive value - define, equation

A

proportion of negative test results that are true negative

NPV = TN/(TN+FN)

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13
Q

odds ratio - define, equation

A

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)

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14
Q

relative risk - define, equation

A

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)

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15
Q

attributable risk - define, equation

A

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)

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16
Q

relative risk reduction - define, equation

A

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

RRR = 1 - RR

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17
Q

absolute risk reduction - define, equation

A

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

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

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18
Q

number needed to treat - define, equation

A

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

NNT = 1/ARR

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19
Q

number needed to harm - define, equation

A

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

NNH = 1/AR

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20
Q

Reynold’s pentad for cholangitis

A

Jaundice, Fever, RUQ pain, hypotension, AMS

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21
Q

stimulates bone and muscle growth

A

GH -> IGF-1

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22
Q

stimulates milk production

A

prolactin

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23
Q

stimulates milk secretion during lactation

A

oxytocin

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24
Q

responsible for female secondary sex characteristics

A

estrogen (estradiol primarily)

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25
Q

stimulates metabolic activity

A

T3/T4

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26
Q

increases blood glucose level and decreases protein synthesis

A

glucocorticoids

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27
Q

responsible for male secondary sex characteristics

A

testosterone

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28
Q

prepares endometrium for implantation/maintenance of pregnancy

A

progesterone

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29
Q

stimulates adrenal cortex to synthesize and secrete cortisol

A

ACTH

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30
Q

stimulates follicle maturation in females and spermatogenesis in males

A

FSH

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31
Q

increases plasma calcium, increases bone resorption

A

PTH

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32
Q

decreases plasma calcium, increases bone formation

A

calcitonin

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33
Q

stimulates ovulation in females and testosterone synthesis in males

A

LH

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34
Q

stimulates thyroid to produce TH and uptake iodine

A

TSH

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35
Q

GH secreted from?

A

anterior pituitary

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36
Q

T3/T4 secreted from?

A

thyroid

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37
Q

glucocorticoids secreted from?

A

adrenal cortex (zona fasciculata)

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38
Q

progesterone secreted from?

A

ovaries

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39
Q

prolactin secreted from?

A

anterior pituitary

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40
Q

oxytocin secreted from?

A

hypothalamus (paraventricular nucleus) -> stored in posterior pituitary

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41
Q

ANP/ANH secreted from?

A

atria of heart

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42
Q

glucagon secreted from?

A

alpha cells of pancreas

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43
Q

testosterone secreted from?

A

testes in men, ovaries in women

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44
Q

FSH secreted from?

A

anterior pituitary

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45
Q

vasopressin/ADH secreted from?

A

hypothalamus (supraoptic nucleus) -> stored in posterior pituitary

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46
Q

calcitonin secreted from?

A

parafollicular “c” cells of thyroid

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47
Q

TSH secreted from?

A

anterior pituitary

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48
Q

epinephrine and norepinephrine secreted from?

A

chromaffin cells of adrenal medulla

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49
Q

insulin secreted from?

A

beta cells of pancreas

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50
Q

estradiol secreted from?

A

ovaries

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51
Q

estriol secreted from?

A

placenta

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52
Q

estrone secreted from?

A

fat

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53
Q

estrogen in males secreted from?

A

testes

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54
Q

PTH secreted from?

A

parathyroids

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55
Q

somatostatin secreted from?

A

delta cells of pancreas

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56
Q

LH secreted from?

A

anterior pituitary

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57
Q

mineralocorticoids secreted from?

A

adrenal cortex (zona glomerulosa)

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58
Q

ACTH secreted from?

A

anterior pituitary

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59
Q

HIV drug ADR: GI intolerance

A

protease inhibitors

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60
Q

HIV drug ADR: inhibit cytochrome P450

A

protease inhibitors (especially ritonavir)

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61
Q

HIV drug ADR: hyperlipidemia/hypertriglyceridemia

A

protease inhibitors

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62
Q

HIV drug ADR: lipodystrophy

A

protease inhibitors

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63
Q

HIV drug ADR: pancreatitis

A

ritonavir, didanosine

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64
Q

HIV drug ADR: nephrolithiasis

A

indinavir, atazanavir

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65
Q

HIV drug ADR: increased bilirubin

A

atazanavir

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66
Q

HIV drug ADR: bone marrow suppression

A

zidovudine

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67
Q

HIV drug ADR: pancreatitis and peripheral neuropathy

A

didanosine, zalcitabine, stavudine

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68
Q

HIV drug ADR: hepatic steatosis

A

didanosine, stavudine

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69
Q

HIV drug ADR: hypersensitivity reaction

A

abacavir

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70
Q

HIV drug ADR: rash

A

NNRTIs

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71
Q

HIV drug ADR: neuropsychiatric sx (nightmares, vivid dreams, dizziness, worsening depression)

A

efavirenz

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72
Q

false-positive drug test to cannabinoids

A

efavirenz

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73
Q

HIV drug ADR: teratogenic

A

efavirenz

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74
Q

which glycogen storage disease has lactic acidosis, hyperlipidemia, hyperuricemia (gout)

A

Von Gierke

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75
Q

which glycogen storage disease has cardiomegaly

A

Pompe (infantile)

76
Q

which glycogen storage disease has diaphragm weakness, leading to respiratory failure

A

Pompe (adult)

77
Q

which glycogen storage disease has increased glycogen in liver, severe fasting hypoglycemia

A

von Gierke

78
Q

which glycogen storage disease has hepatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, uric acid)

79
Q

which glycogen storage disease has painful cramps, myoglobinuria with strenuous exercise

80
Q

which glycogen storage disease has severe HSM, enlarged kidneys

A

Von gierke

81
Q

rate-limiting enzyme of glycolysis

A

phosphofructokinase-1 (PFK-1)

82
Q

rate-limiting enzyme of gluconeogenesis

A

fructose-1,6-bisphosphatase

83
Q

rate-limiting enzyme of TCA cycle

A

isocitrate dehydrogenase

84
Q

rate-limiting enzyme of glycogenesis

A

glycogen synthase

85
Q

rate-limiting enzyme of glycogenolysis

A

glycogen phosphorylase

86
Q

rate-limiting enzyme of HMP shunt

A

glucose-6-phosphate dehydrogenase (G6PD)

87
Q

rate-limiting enzyme of de novo pyrimidine synthesis

A

carbamoyl phosphate synthetase II

88
Q

rate-limiting enzyme of de novo purine synthesis

A

glutamine-phosphoribosylpyrophosphate (PRPP) amidotransferase

89
Q

rate-limiting enzyme of urea cycle

A

carbamoyl phosphate synthetase I

90
Q

rate-limiting enzyme of fatty acid synthesis

A

acetyl-CoA carboxylase (ACC)

91
Q

rate-limiting enzyme of fatty acid oxidation

A

carnitine acyltransferase/palmitoyltransferase I (CAT I/CPS I)

92
Q

rate-limiting enzyme of ketogenesis

A

HMG-CoA synthase

93
Q

rate-limiting enzyme of cholesterol synthesis

A

HMG-CoA reductase

94
Q

rate-limiting enzyme of bile acid synthesis

A

7alpha-hydroxylase

95
Q

HLA: hemochromatosis

96
Q

HLA: PAIR dzs

97
Q

HLA: Celiac dz

A

HLA-DQ2/DQ8

98
Q

HLA: MS, Goodpasture syndrome

99
Q

HLA: DM type I, Graves, Hashimoto

100
Q

HLA: RA, DM type I

101
Q

HLA: pernicious anemia, Hashimoto

102
Q

anti-ACh receptor ab

103
Q

anti-basement membrane ab

A

Goodpasture syndrome

104
Q

anticardiolipin, lupus anticoagulant ab

A

SLE, antiphospholipid antibody syndrome

105
Q

anticentromere ab

A

limited scleroderma (CREST syndrome)

106
Q

anti-desmosome (anti-desmoglein) ab

A

pemphigus vulgaris

107
Q

anti-dsDNA, anti-Smith (snRNP) ab

108
Q

anti-glutamic acid decarboxylase (GAD-65) ab

109
Q

antihemidesmosome ab

A

bullous pemphigoid

110
Q

anti-histone ab

A

drug-induced lupus

111
Q

anti-Jo-1 (anti-histidyl-tRNA synthetase), anti-SRP, anti-Mi-2 abs

A

polymyositis, dermatomyositis

112
Q

antimicrosomal, antithyroglobulin abs

A

Hashimoto thyroiditis

113
Q

antimitochondrial ab

A

primary biliary cirrhosis

114
Q

antinuclear antibodies (ANCA) ab

A

SLE, nonspecific

115
Q

antiparietal cell ab

A

pernicious anemia

116
Q

anti-Scl-70 (anti-DNA topoisomerase I) ab

A

diffuse scleroderma

117
Q

anti-smooth muscle, anti-ANA abs

A

autoimmune hepatitis (type I)

118
Q

anti-SSA, anti-SSB (anti-Ro, anti-La) abs

A

Sjogren syndrome

119
Q

anti-TSH receptor ab

120
Q

anti-U1 RNP (ribonucleoprotein) ab

A

mixed connective tissue dz

121
Q

IgA anti-endomysial, IgA anti-tissue transglutaminase abs

122
Q

MPO-ANCA/p-ANCA ab

A

microscopic polyangiitis, eosinophilic granulomatosis w/ polyangiitis (Churg-Strauss syndrome)

123
Q

PR3-ANCA/c-ANCA ab

A

granulomatosis w/ polyangiitis (Wegeners)

124
Q

rheumatoid factor (IgM ab that targets IgG Fc region), anti-CCP (more specific) abs

125
Q

anti-liver-kidney microsomal, anti-liver cytosol abs

A

autoimmune hepatitis (type II)

126
Q

alemtuzumab target

127
Q

bevacizumab target

128
Q

cetuximab target

129
Q

rituximab target

130
Q

trastuzumab target

131
Q

adalimumab, infliximab target

A

soluble TNF-alpha

132
Q

etanercept target

A

decoy TNF-alpha receptor

133
Q

exulizumab target

A

complement protein C5

134
Q

natalizumab target

A

alpha4-integrin

135
Q

abciximab target

A

platelet glycoproteins IIb/IIIa

136
Q

denosumab target

137
Q

digoxin immune Fab target

A

digoxin (antidote for dig toxicity)

138
Q

omalizumab target

139
Q

palivizumab target

A

RSV F protein

140
Q

ranibizumab, bevacizumab target

141
Q

muromonab target

A

CD3 on T cells

142
Q

BCR-ABL: gene product and associated tumor(s)

A

tyrosine kinase

CML, ALL

143
Q

BCL-2: gene product and associated tumor(s)

A 
antiapoptotic molecule (inhibits apoptosis)
follicular and undifferentiated lymphomas
144
Q

BRAF: gene product and associated tumor(s)

A

serine/threonine kinase

melanoma, non-Hodgkin lymphoma

145
Q

c-kit: gene product and associated tumor(s)

A

cytokine receptor

gastrointestinal stromal tumor (GIST)

146
Q

c-myc: gene product and associated tumor(s)

A

transcription factor

Burkitt lymphoma

147
Q

HER2/neu (c-erbB2): gene product and associated tumor(s)

A

tyrosine kinase

breast, ovarian, and gastric carcinomas

148
Q

L-myc: gene product and associated tumor(s)

A

transcription factor

lung tumor

149
Q

N-myc: gene product and associated tumor(s)

A

transcription factor

neuroblastoma

150
Q

RAS: gene product and associated tumor(s)

A

GTPase
K-RAS: Kolon, panKreatic, lung cancer
H-RAS: bladder and kidney (Hematuria)
N-RAS: melanoma, hematologic, follicular thyroid
MC mutation in human tumors (15-20% have it)

151
Q

RET: gene product and associated tumor(s)

A

tyrosine kinase

MEN 2A and 2B, medullary thyroid cancer

152
Q

APC: gene product and associated tumor(s)

A 
(no listed gene product)
colorectal cancer (associated w/ FAP)
153
Q

BRCA1/BRCA2: gene product and associated tumor(s)

A

DNA repair protein

breast (1 and 2), ovarian (1), and prostate cancer (1)

154
Q

DCC: gene product and associated tumor(s)

A

DCC: Deleted in Colon Cancer

colon cancer

155
Q

DPC4/SMAD4: gene product and associated tumor(s)

A

DPC: Deleted in Pancreatic Cancer

pancreatic cancer

156
Q

MEN1: gene product and associated tumor(s)

A

menin

MEN 1

157
Q

NF1: gene product and associated tumor(s)

A

Ras GTPase activating protein (neurofibromin)

NF1 (von Recklinghausen dz)

158
Q

NF2: gene product and associated tumor(s)

A

merlin (schwannomin) protein

NF2

159
Q

p16: gene product and associated tumor(s)

A

cyclin-dependent kinase inhibitor 2A

melanoma

160
Q

p53: gene product and associated tumor(s)

A

transcription factor for p21, blocks G1 -> S phase
most human cancers, Li-Fraumeni syndrome
>50% of human cancers have this mutation!

161
Q

PTEN: gene product and associated tumor(s)

A

(no listed gene product)

breast cancer, prostate cancer, endometrial cancer

162
Q

Rb: gene product and associated tumor(s)

A

inhibits E2F; blocks G1 -> S phase

retinoblastoma, osteosarcoma, breast, colon, and lung cancers

163
Q

TSC1: gene product and associated tumor(s)

A

hamartin protein

tuberous sclerosis

164
Q

TSC2: gene product and associated tumor(s)

A

tuberin protein

tuberous sclerosis

165
Q

VHL: gene product and associated tumor(s)

A

inhibits hypoxia inducible factor 1a

von Hippel-Lindau dz, RCC

166
Q

WT1/WT2: gene product and associated tumor(s)

A 
(no listed gene product)
Wilms tumor (nephroblastoma)
167
Q

alkaline phosphatase (tumor marker)

A

mets to bone or liver, Paget dz of bone, seminoma (placental ALP)

168
Q

alpha-fetoprotein (tumor marker)

A

HCC, hepatoblastoma, yolk sac (endodermal sinus) tumor, mixed germ cell tumor

169
Q

beta-HCG (tumor marker)

A

hydatidiform moles and choriocarcinomas (gestational trophoblastic dz), testicular cancer, mixed germ cell tumor

170
Q

CA 15-3/CA 27-29 (tumor marker)

A

breast cancer

171
Q

CA 19-9 (tumor marker)

A

pancreatic cancer

172
Q

CA 125 (tumor marker)

A

ovarian cancer (any peritoneal irritation increases CA 125)

173
Q

calcitonin (tumor marker)

A

medullary thyroid carcinoma

174
Q

CEA (tumor marker)

A

very nonspecific, but ~70% of colon and pancreatic cancers produce; also made by gastric, breast, and medullary thyroid carcinomas

175
Q

chromogranin (tumor marker)

A

neuroendocrine tumors/carcinoid

176
Q

PSA (tumor marker)

A

prostate cancer; can also be elevated in BPH and prostatitis, questionable risk/benefit

177
Q

S-100 (tumor marker)

A

melanoma, Schwannoma

178
Q

tartrate-resistant acid phosphatase (TRAP) (tumor marker)

A

hairy cell leukemia

179
Q

anti-Yo, anti P/Q, and anti-Hu abs

A

paraneoplastic cerebellar degeneration

180
Q

renal clearance equation

181
Q

GFR equation

A

GFR = U(inulin)V/P(inulin) = C(inulin)
inulin freely filtered, neither reabsorbed nor secreted
most of the time use creatinine clearance (approximate; slightly overestimates d/t moderate secretion)

182
Q

effective renal plasma flow equation

renal blood flow equation

A

eRPF = U(PAH)V/P(PAH) = C(PAH)
PAH both filtered and secreted
RBF = RPF/(1 - Hct)

183
Q

filtration fraction equation

A

FF = GFR/RPF; normal 20%

184
Q

filtered load equation

185
Q

Winters formula

A

predicted respiratory compensation for simple metabolic acidosis; if measured PCO2 differs significantly from predicted, mixed acid-base disorder likely
PCO2 = 1.5[HCO3-] + 8 +/- 2

186
Q

anion gap calculation

A

Na+ - (Cl- + HCO3-)

normal range: 10-12

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