7/22 Flashcards
what cancers does Lynch Syndrome give you, and what genes?
colorectal
endometrial
ovarian
MSH2
MLH1
MSH6
PMS2
what cancers does FAP give you, and what gene?
colorectal
desmoids and osteomas
brain tumors
APC
what cancers does VHL give you and and what gene?
hemangioblastomas
renal clear cell carcinoma
pheochromocytoma
VHL
what cancers does Li Fraumeni syndrome give you, and what gene?
sarcomas breast cancer brain tumors adrenocortical carcinoma leukemia
tp53
which nerves carry the afferent and efferent limbs of the carotid sinus reflex
afferent: glossopharyngeal
efferent: parasympathetic vagus
which molecule recognizes stop codons
Releasing Factor 1
what are efficacy and potency of drugs
efficacy is the “vertical” measure- % of maximal effect
potency is the “horizontal” measure-what doses are required to reach the same height on the graph
what is Sirolimus’s MOA
inhibits mTOR, which blocks IL-2 and prevents cell cycle progression and lymphocyte proliferation
what can cause a dilated coronary sinus
pulmonary HTN,
leading to elevated Right heart pressures
which pharyngeal pouch does the thymus come from
3rd pharyngeal pouch (with the inferior parathyroids)
what TB drug has to be processed by mycobacterial catalase peroxidase in order to be activated
isoniazid
what do you classically on crohn’s histology
noncaseating granulomas and transmural inflammation
which renal pathology causes selective loss of albumin in urine
minimal change disease
caused by loss of anion properties of the glomerular BM
which disease has autoimmune destruction of intrahepatic, interlobular bile ducts by granulomatous inflammation
PBC
typically presents w/ pruritus and fatigue in middle aged F
which lung exposure die you pleural thickening and calcified lesions on diaphragm etc?
asbestos
what 2 lab values will be elevated in a neural tube defect
AchE and AFP
what does dermatomyositis have a strong association with
malignancy, including lung, colorectal, and ovarian cancers
what is apolipoprotein E4 genotype associated with
Late-onset Alzheimer’s
what are the 3 gene mutations associated with early-onset Alzheimer’s
APP (chromosome 21)
Presenilin 1
Presenilin 2
what disease presents with tinnitus, vertigo, and sensorineural hearing loss
Meniere’s disease
what causes Meniere’s disease
increased pressure and volume of endolymph