Block 1 Flashcards
(27 cards)
Phe508 del for what dz? tx? complications?
CF, framshift del. chest physio, albuterol, hypertonic saline, luma/tezcaftor corrects misfold + ivacaftor opens Cl- channels, azithro. Pseudo/asper, infert, mucus, panc insuff/no ADEK/steatorrhea, inc trypsinogen newborn screen, alk/hypokal, neg transepith potential diff, mec ileus, rales, bronchitis/ectasis
Virchow 3ad vs Beck 3ad vs Cushing reflex vs fat emboli 3ad vs Whipple 3ad
in DVT -> hypercoag, stasis, endothel dmg vs in tamponade -> HOTN, JVD, muffled/distant heart sounds vs HTN, resp dep, brady vs hypoxemia, neuro, petechial rash vs insulinoma -> hypogly, sxs, resolution of plasma glu
how to find LR+ vs LR-. what happens when LR+ >10 vs LR- <0.1? Selection bias: Berkson vs Attrition bias
TP/FP vs FN/TN. highly specific vs highly sensitive. recruiting more sick pts (bedside pts) vs pts lost to f/u or diff prog
what stats formula = assoc w/ cross sectional study vs case ctrl vs cohort?
prevalence vs odds ratio vs relative risk, incidence
extra findings of Turner. Labs for Duchenne? Li Fraumeni?
horseshoe kidney, bicuspid aortic valve, coarct, aortic dissect. Inc CK & aldolase. AD TP53 tumor suppressor gene -> ca Sarcoma, Br, Leukemia, Adrenals, glio
buzzwords for CMV. MOA for diphtheria? Haemophilus ducreyi?
owl eye inclusions, intranuclear Cowdry bodies, heterophile neg mono. release alpha tox -> ADP ribosylates EF2 -> block protein synthesis; nonmotile. gram neg rod STI, painful chancroid w/ erythematous base, pustules, ulcers
details you keep forgetting igA defic vs IL12 defic vs SCD vs ATM vs hyper igM vs Chediak Higashi
tx w/ abx ppx vs AR, myco & fungal infxn vs XR, AR, RAG vs inc AFP, defect in nonhomolog end join vs XR, pyogenic, opportunistic encaps infxn vs lymphohistocytosis, periph neuropathy, giant azuro granules
Marfan vs homocystinuria vs EDS
AD FBN1 chrm 15 -> no fibrillin around elastin & sequester TGFB -> tall, arachnodactyl, pec excavatum, MVP, aortic aneurysm/rupture/dissect, pneumothorax, up lens vs AR same but thrombosis/athero, low intellect, down lens, lack B6 vs AD/R, hypermobile/extensile, Berry/aortic aneurysm easy bruising, type 5/3
rheumatic fever keywords
early mitral regurg/late mitral sten, Aschkoff giant gran, Anitschow rod nucleus, M protein like on tropo/myosin, antistreptolysin O, anti-DNAase B
Pleiotropy vs loss of heterozygosity vs 2x neg mutation
One gene encodes mult phenotypes vs if pt inherits tumor suppressor gene > wild type needs to be deleted before ca develops vs heterozygote makes nonfxnal protein that’s also prevents nml gene product from fxning
Gene for Angelmann. frameshift del vs inframe del
Paternal UBE3A silenced and mom genes also mutated/deleted. if # bp not divisible by 3 vs is divisible by 3
Cri du chat vs Williams syndrome
Congen del short arm chrm 5 -> cry cat, microcephalic, intel disability, VSD vs Congen microdel long arm chrm 7 -> elfin face, hyperCa2+, super friendly/outgoing, supravalvular aortic or renal sten; dx by FISH
B5&B7 defic. B3 defic? Hartnup in where? Vit E defic vs excess? vit K made by?
Dermatitis, enteritis, aloepecia. Dementia, diarrhea, dermatitis C3/4 collar. PCT; inc neutral aa; AR. Hemolytic anemia, degen dorsal columns & spinocerebellar tract, acanthocytosis vs infant enterocolitis. intest flora
cleft lip vs palate. RNA pol I vs II vs III in euks
medial nasal (1o) & maxillary vs 2 lateral or 1 lateral + nasal septum or 1o. make rRNA vs mRNA, microRNA, snRNA vs tRNA, 5S rRNA
polio vax: sabin vs salk. how to tx hepC? leptospira?
live atten oral, igG + A vs inactivated/killed, igG. ribavirin, IFNa, protease inhibitors. gram neg spirochete entering epiderm/mucus mem -> flu, liver/renal, conj suffusion, Weil dz; tx w/ PCNG, doxy
Lesch Neyhan syndrome
XR no HGPRT in purine salvage -> hyperuric, gout, pissed/SELF MUTIL/aggress, red/orange urine/diaper crystals, tense/dystonia; tx w/ allopurinol > febuxostat
peroxisome problems: Zell vs Refsum vs adrenoleukodystrophy
AR PEX -> no peroxisome biogen -> no B[O]/a[O]/plasmalogen -> hypotonia, hepmeg, hearing loss, sz, PCKD vs AR a[O] -> branched & phytanic acid, dec phytanyl hydroxylase & peroxin 7 -> short 4th toe, night blind, atax, cataract vs XR ABCD1 -> no B[O] -> VLCFA & cerotic acid in adrenals/white matter/testes
non vs caseating gran
no central nec vs TB/fungal; macs present ag & IL12 to CD4 -> Th1/IFNy -> converts macs to giant cells & epith histiocytes, macs secrete TNFa -> gran
labile vs stable vs permanent regen capacity. Hartnup in where?
always regen; skin, bone marrow, bowel vs regen when you need to; liver vs can’t regen; brain, skel mm, heart. PCT; AR, inc neutral aa
TB PPD induration markers vs how does it work?. Treg vs Th17
5mm for HIV, 10 mm for healthcare workers, 15mm for 15mm for everyone vs T4HS: Th1/IFNy + skin macs. CD25 vs IL17, protects from GI/mucosal infxn
T vs B cell activation
bone marrow -> subcapsular CD- -> CD3+ pos sel in cortex, CD4+ OR CD8+ neg sel in medulla; APC presents ag, MHCII to TCR CD4, B7/CD80/CD86 to CD28 vs MHCII to TCR CD4, CD40 to CD40L -> igM -> class switch, affinity maturation
rate limiting enzyme for glycolysis vs TCA. reasons for low vs intermed vs high Vd
PFK1 vs isocitrate dehydrogenase. lg polar, plasma albumin bound, intravasc vs big nonpolar, ECF vs small nonpolar/lipophilic, all tissues; Vd dec in liver/renal dz
which drugs = zero order kinetics? Li Fraumeni. What type of vax is HepA?
phenytoin, EtOH, ASA. AD TP53 chrm 17 -> sarcoma, br, leukemia, adrenal ca. killed/inactivated
antihistone for? Fragile X premutation vs full mutation
drug induced lupus (hydralazine, procainamide, INH, phenytoin). XD FMR1 -> hypermethyl cytosine -> dec expression; atax, tremor vs yep, self mutilation
