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Bullshit Memorization Stuff Flashcards

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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
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
31
increases plasma calcium, increases bone resorption
PTH
32
decreases plasma calcium, increases bone formation
calcitonin
33
stimulates ovulation in females and testosterone synthesis in males
LH
34
stimulates thyroid to produce TH and uptake iodine
TSH
35
GH secreted from?
anterior pituitary
36
T3/T4 secreted from?
thyroid
37
glucocorticoids secreted from?
adrenal cortex (zona fasciculata)
38
progesterone secreted from?
ovaries
39
prolactin secreted from?
anterior pituitary
40
oxytocin secreted from?
hypothalamus (paraventricular nucleus) -> stored in posterior pituitary
41
ANP/ANH secreted from?
atria of heart
42
glucagon secreted from?
alpha cells of pancreas
43
testosterone secreted from?
testes in men, ovaries in women
44
FSH secreted from?
anterior pituitary
45
vasopressin/ADH secreted from?
hypothalamus (supraoptic nucleus) -> stored in posterior pituitary
46
calcitonin secreted from?
parafollicular "c" cells of thyroid
47
TSH secreted from?
anterior pituitary
48
epinephrine and norepinephrine secreted from?
chromaffin cells of adrenal medulla
49
insulin secreted from?
beta cells of pancreas
50
estradiol secreted from?
ovaries
51
estriol secreted from?
placenta
52
estrone secreted from?
fat
53
estrogen in males secreted from?
testes
54
PTH secreted from?
parathyroids
55
somatostatin secreted from?
delta cells of pancreas
56
LH secreted from?
anterior pituitary
57
mineralocorticoids secreted from?
adrenal cortex (zona glomerulosa)
58
ACTH secreted from?
anterior pituitary
59
HIV drug ADR: GI intolerance
protease inhibitors
60
HIV drug ADR: inhibit cytochrome P450
protease inhibitors (especially ritonavir)
61
HIV drug ADR: hyperlipidemia/hypertriglyceridemia
protease inhibitors
62
HIV drug ADR: lipodystrophy
protease inhibitors
63
HIV drug ADR: pancreatitis
ritonavir, didanosine
64
HIV drug ADR: nephrolithiasis
indinavir, atazanavir
65
HIV drug ADR: increased bilirubin
atazanavir
66
HIV drug ADR: bone marrow suppression
zidovudine
67
HIV drug ADR: pancreatitis and peripheral neuropathy
didanosine, zalcitabine, stavudine
68
HIV drug ADR: hepatic steatosis
didanosine, stavudine
69
HIV drug ADR: hypersensitivity reaction
abacavir
70
HIV drug ADR: rash
NNRTIs
71
HIV drug ADR: neuropsychiatric sx (nightmares, vivid dreams, dizziness, worsening depression)
efavirenz
72
false-positive drug test to cannabinoids
efavirenz
73
HIV drug ADR: teratogenic
efavirenz
74
which glycogen storage disease has lactic acidosis, hyperlipidemia, hyperuricemia (gout)
Von Gierke
75
which glycogen storage disease has cardiomegaly
Pompe (infantile)
76
which glycogen storage disease has diaphragm weakness, leading to respiratory failure
Pompe (adult)
77
which glycogen storage disease has increased glycogen in liver, severe fasting hypoglycemia
von Gierke
78
which glycogen storage disease has hepatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, uric acid)
Cori
79
which glycogen storage disease has painful cramps, myoglobinuria with strenuous exercise
McArdle
80
which glycogen storage disease has severe HSM, enlarged kidneys
Von gierke
81
rate-limiting enzyme of glycolysis
phosphofructokinase-1 (PFK-1)
82
rate-limiting enzyme of gluconeogenesis
fructose-1,6-bisphosphatase
83
rate-limiting enzyme of TCA cycle
isocitrate dehydrogenase
84
rate-limiting enzyme of glycogenesis
glycogen synthase
85
rate-limiting enzyme of glycogenolysis
glycogen phosphorylase
86
rate-limiting enzyme of HMP shunt
glucose-6-phosphate dehydrogenase (G6PD)
87
rate-limiting enzyme of de novo pyrimidine synthesis
carbamoyl phosphate synthetase II
88
rate-limiting enzyme of de novo purine synthesis
glutamine-phosphoribosylpyrophosphate (PRPP) amidotransferase
89
rate-limiting enzyme of urea cycle
carbamoyl phosphate synthetase I
90
rate-limiting enzyme of fatty acid synthesis
acetyl-CoA carboxylase (ACC)
91
rate-limiting enzyme of fatty acid oxidation
carnitine acyltransferase/palmitoyltransferase I (CAT I/CPS I)
92
rate-limiting enzyme of ketogenesis
HMG-CoA synthase
93
rate-limiting enzyme of cholesterol synthesis
HMG-CoA reductase
94
rate-limiting enzyme of bile acid synthesis
7alpha-hydroxylase
95
HLA: hemochromatosis
HLA-A3
96
HLA: PAIR dzs
HLA-B27
97
HLA: Celiac dz
HLA-DQ2/DQ8
98
HLA: MS, Goodpasture syndrome
HLA-DR2
99
HLA: DM type I, Graves, Hashimoto
HLA-DR3
100
HLA: RA, DM type I
HLA-DR4
101
HLA: pernicious anemia, Hashimoto
HLA-DR5
102
anti-ACh receptor ab
MG
103
anti-basement membrane ab
Goodpasture syndrome
104
anticardiolipin, lupus anticoagulant ab
SLE, antiphospholipid antibody syndrome
105
anticentromere ab
limited scleroderma (CREST syndrome)
106
anti-desmosome (anti-desmoglein) ab
pemphigus vulgaris
107
anti-dsDNA, anti-Smith (snRNP) ab
SLE
108
anti-glutamic acid decarboxylase (GAD-65) ab
DM type 1
109
antihemidesmosome ab
bullous pemphigoid
110
anti-histone ab
drug-induced lupus
111
anti-Jo-1 (anti-histidyl-tRNA synthetase), anti-SRP, anti-Mi-2 abs
polymyositis, dermatomyositis
112
antimicrosomal, antithyroglobulin abs
Hashimoto thyroiditis
113
antimitochondrial ab
primary biliary cirrhosis
114
antinuclear antibodies (ANCA) ab
SLE, nonspecific
115
antiparietal cell ab
pernicious anemia
116
anti-Scl-70 (anti-DNA topoisomerase I) ab
diffuse scleroderma
117
anti-smooth muscle, anti-ANA abs
autoimmune hepatitis (type I)
118
anti-SSA, anti-SSB (anti-Ro, anti-La) abs
Sjogren syndrome
119
anti-TSH receptor ab
Graves dz
120
anti-U1 RNP (ribonucleoprotein) ab
mixed connective tissue dz
121
IgA anti-endomysial, IgA anti-tissue transglutaminase abs
Celiac dz
122
MPO-ANCA/p-ANCA ab
microscopic polyangiitis, eosinophilic granulomatosis w/ polyangiitis (Churg-Strauss syndrome)
123
PR3-ANCA/c-ANCA ab
granulomatosis w/ polyangiitis (Wegeners)
124
rheumatoid factor (IgM ab that targets IgG Fc region), anti-CCP (more specific) abs
RA
125
anti-liver-kidney microsomal, anti-liver cytosol abs
autoimmune hepatitis (type II)
126
alemtuzumab target
CD52
127
bevacizumab target
VEGF
128
cetuximab target
EGFR
129
rituximab target
CD20
130
trastuzumab target
HER2/neu
131
adalimumab, infliximab target
soluble TNF-alpha
132
etanercept target
decoy TNF-alpha receptor
133
exulizumab target
complement protein C5
134
natalizumab target
alpha4-integrin
135
abciximab target
platelet glycoproteins IIb/IIIa
136
denosumab target
RANKL
137
digoxin immune Fab target
digoxin (antidote for dig toxicity)
138
omalizumab target
IgE
139
palivizumab target
RSV F protein
140
ranibizumab, bevacizumab target
VEGF
141
muromonab target
CD3 on T cells
142
BCR-ABL: gene product and associated tumor(s)
tyrosine kinase | CML, ALL
143
BCL-2: gene product and associated tumor(s)
``` antiapoptotic molecule (inhibits apoptosis) follicular and undifferentiated lymphomas ```
144
BRAF: gene product and associated tumor(s)
serine/threonine kinase | melanoma, non-Hodgkin lymphoma
145
c-kit: gene product and associated tumor(s)
cytokine receptor | gastrointestinal stromal tumor (GIST)
146
c-myc: gene product and associated tumor(s)
transcription factor | Burkitt lymphoma
147
HER2/neu (c-erbB2): gene product and associated tumor(s)
tyrosine kinase | breast, ovarian, and gastric carcinomas
148
L-myc: gene product and associated tumor(s)
transcription factor | lung tumor
149
N-myc: gene product and associated tumor(s)
transcription factor | neuroblastoma
150
RAS: gene product and associated tumor(s)
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
RET: gene product and associated tumor(s)
tyrosine kinase | MEN 2A and 2B, medullary thyroid cancer
152
APC: gene product and associated tumor(s)
``` (no listed gene product) colorectal cancer (associated w/ FAP) ```
153
BRCA1/BRCA2: gene product and associated tumor(s)
DNA repair protein | breast (1 and 2), ovarian (1), and prostate cancer (1)
154
DCC: gene product and associated tumor(s)
DCC: Deleted in Colon Cancer | colon cancer
155
DPC4/SMAD4: gene product and associated tumor(s)
DPC: Deleted in Pancreatic Cancer | pancreatic cancer
156
MEN1: gene product and associated tumor(s)
menin | MEN 1
157
NF1: gene product and associated tumor(s)
Ras GTPase activating protein (neurofibromin) | NF1 (von Recklinghausen dz)
158
NF2: gene product and associated tumor(s)
merlin (schwannomin) protein | NF2
159
p16: gene product and associated tumor(s)
cyclin-dependent kinase inhibitor 2A | melanoma
160
p53: gene product and associated tumor(s)
transcription factor for p21, blocks G1 -> S phase most human cancers, Li-Fraumeni syndrome >50% of human cancers have this mutation!
161
PTEN: gene product and associated tumor(s)
(no listed gene product) | breast cancer, prostate cancer, endometrial cancer
162
Rb: gene product and associated tumor(s)
inhibits E2F; blocks G1 -> S phase | retinoblastoma, osteosarcoma, breast, colon, and lung cancers
163
TSC1: gene product and associated tumor(s)
hamartin protein | tuberous sclerosis
164
TSC2: gene product and associated tumor(s)
tuberin protein | tuberous sclerosis
165
VHL: gene product and associated tumor(s)
inhibits hypoxia inducible factor 1a | von Hippel-Lindau dz, RCC
166
WT1/WT2: gene product and associated tumor(s)
``` (no listed gene product) Wilms tumor (nephroblastoma) ```
167
alkaline phosphatase (tumor marker)
mets to bone or liver, Paget dz of bone, seminoma (placental ALP)
168
alpha-fetoprotein (tumor marker)
HCC, hepatoblastoma, yolk sac (endodermal sinus) tumor, mixed germ cell tumor
169
beta-HCG (tumor marker)
hydatidiform moles and choriocarcinomas (gestational trophoblastic dz), testicular cancer, mixed germ cell tumor
170
CA 15-3/CA 27-29 (tumor marker)
breast cancer
171
CA 19-9 (tumor marker)
pancreatic cancer
172
CA 125 (tumor marker)
ovarian cancer (any peritoneal irritation increases CA 125)
173
calcitonin (tumor marker)
medullary thyroid carcinoma
174
CEA (tumor marker)
very nonspecific, but ~70% of colon and pancreatic cancers produce; also made by gastric, breast, and medullary thyroid carcinomas
175
chromogranin (tumor marker)
neuroendocrine tumors/carcinoid
176
PSA (tumor marker)
prostate cancer; can also be elevated in BPH and prostatitis, questionable risk/benefit
177
S-100 (tumor marker)
melanoma, Schwannoma
178
tartrate-resistant acid phosphatase (TRAP) (tumor marker)
hairy cell leukemia
179
anti-Yo, anti P/Q, and anti-Hu abs
paraneoplastic cerebellar degeneration
180
renal clearance equation
C = UV/P
181
GFR equation
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
effective renal plasma flow equation | renal blood flow equation
eRPF = U(PAH)V/P(PAH) = C(PAH) PAH both filtered and secreted RBF = RPF/(1 - Hct)
183
filtration fraction equation
FF = GFR/RPF; normal 20%
184
filtered load equation
GFR x Px
185
Winters formula
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
anion gap calculation
Na+ - (Cl- + HCO3-) | normal range: 10-12

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