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Daniel's random 8
| Question | Answer |
|---|---|
| OTC def genetics, findings | x linked, hyperammonia, increased orotic acid, decreased BUN |
| I cell disease (inclusion cell dz) | no mannose 6 phosphate added; enzymes go outside of cell instead of lysosome |
| I cell disease findings | coarse facial features, clouded cornea, restricted joint movement, increased plasma lysosomal enzymes, fatal |
| M protein | group A strep; prevents phagocytosis |
| bugs that mimic appendicitis | yersinia, campylobacter, nontyphoidal salmonella; mesenteric adenitis |
| carcinoid tumor histo | sheets of uniform cells; minimal to no variation in shape and size of tumor cells; from enterochromaffin cells of intestinal mucosa |
| reovirus | colitvirus(colorodo tick fever); rotavirus |
| mulluscum contagiosum | poxvirus |
| vaccinia | coxpox (milkmaid's blister), poxvirus |
| most common complication of herpes zoster | post herpetic neuralgia -> persistant local pain |
| what recognizes the stop codon | release factor |
| how does initiation occur? | initiation factors help assemble the 40s (30s in pro) subunit with the initiator met-tRNA -> released when mRNA and the ribosomal subunit assemble and complex |
| initiation inhibited by what drug? | aminoglycosides |
| Hep B on liver histo | ground glass, spheres and tubuels |
| Hep C on histo | lymphoid aggregates in portal tracts, macrovesicular steatosis |
| obligate aerobes | nagging pests must breath |
| bronchoalveolar carcinoma on histo | columnar cells that line the alveolar septa without vascular or stromal invasion, pneumonia like presentation |
| loud noise damage ear by? | damage stereociliated hair cells of the organ of corti |
| cystinuria | AR; cystine stones, can't reabsorb aa: cysteine, ornithine, lysine, arginine in PCT; alkalinize urine with aceetazolamide |
| XP | AR |
| cause of XP | deficient in UV specific endonuclease deficiency -> defective nucleotide excision repair of thymine dimers from UV radiation |
| homocystinuria | AR; cysteine becomes essential; increased homocysteine in urine, MR, osteoporosis, tall stature, kyphosis, lens subluxation (down and in), atherosclerosis (stroke and MI) |
| hunter's syndrome | x-linked; heparan sulfate and dermatan sulfate accumulation; def in iduronate sulfatase |
| hunter's findings | mild hurlers + aggressive; |
| roseola HHV6 | high fevers for several days -> may cause seizures; followed by diffuse macular rash |
| function of HDL | holds apoC and apoE` |
| reticulocytes | immature red blood cells; bluish cytoplasm, reticular precipitates of residual ribosomal RNA |
| protein that degrade cell membrane | s. pyogenes; streptolysin O; lyses RBCs,contributes to beta hemolysis, ASO antibodies |
| why asplenia leads to infxn with encapsulated organisms | site of AB synthesis -> 1/2 of Ig produced by splenic B lymphocytes; reservoir of phagocytic cells capable of removing circulating pathogens |
| shat may decrease as a result of transfusion | Ca and Mg; chelation by citrate present in blood product used as an anticoagulant |
| example of malformation | holoprosencephaly, congenital heart dz, anencephaly |
| example of disruption | amniotic band syndrome -> secondary disruption of a previously well formed tissue or organ |
| deformation | potter syndrome, congenital hip dislocation |
| sequence | potter syndrome |
| during wound healing, what can excessive MMP activity and myofibroblast accumulation cause? | contracture |
| IgA protease | shinK, cleaves IgA -> allows colonization of resp mucosa |
| only ssDNA virus | parvoviridae: B19 virus |
| hyperpyrexia | greater than 40C = 104 farenheit |
| 2 types of paraneoplastic syndromes | endocrine; 2. autoimmune- paraneoplastic cerebellar degeneration |
| CO2 carrier on carboxylase enzymes | biotin |
| 2nd leading cause of neonatal meningitis | E> coli; a capsule that has K1 antigen -> not all E> coli have this, but the meningitis ones do |
| maple syrup urine disease | blocked degradation of branched AA (ile, leu, val) due to decreased alpha ketoacid dehydrogenase _> increased alpha ketoacids in blood, esp leu |
| maple syrup urine disease symptoms | urine smells like maple syrup, CNS defects, mental retardation, death |
| maple syrup urine disease tx | decreased branched AA, hi dose B may help |
| MERRF | myoclonic epilepsy and ragged red fibers- progressive myoclonic epilepsy, short stature |
| MELAS | mitchondrial encephalomyopathy, lactic acidosis, stroke like syndrome; ragged red fibers |
| MELAS presentation | cognitive impairment, lactic acidosis, strkoes, TIA, hearing loss, weight loss |
| spirochetes | leptospira, borellia (giemsa), treponema |
| comedocarcinoma | subtype of DCIS, noninvasive, solid sheets of pleomorphic, high grade cells with central caseating necrosis |
| liver histo in acute hepatitis | diffuse ballooning - hepatocyte swelling; councilman bodies (eosinophilic apoptotic hepatotocytes) |
| CTG | myoclonic dystrophy |
| what increases insulin resistance in fat people? | FFA and serum TG |
| overactivates adenylate cyclase -> increased cAMP | ETEC, heat labile toxin LT, watery diarrhea |
| what is translocation? | movement of peptidyl RNA to P site |
| what is translocation inhibited by? | macrolides (23s of the 50s subunit) |
| what inhibits initiation? | aminoglycosides |
| effects of glucose on lac operon | blocks cAMP, which binds CAP, which helps RNA poly bind promoter -> transcription. increased glucose -> decreased lactose metabolism |
| beta hemolytic | staph aureus; strep pyogenes, s. agalactiae, listeria |
| bug causing RBC destruction in fetus -> hydrops fetalis | parvoB19 |
| only DNA virus that replicates in cytoplasm | poxvirus |
| non-icosahedral DNA virusl | pox (complex) |
| treatment for listeria | ampicillin |
| congenital toxo triad | chorioretinitis, hydrocephalus, IC calcifications |
| 2 stains for cryptococcus | 1. india ink -> capsule clear; 2. mucicarmine -> capsule red |
| common in systemic mastocytosis | gastric hypersecretion -> via histamine stimulation |
| thoephylline toxicities | cardiotoxic -> tachyarrhthmias, neurotoxic -> seizures, metabolized by P450 |
| silver stain | fungi and legionella |
| blood supply to proximal 1/3 of ureter | renal artery |
| thayer martin | aka VPN- for gonorrhea, contains polymyxin (gram neg), nystatin *fungi), vancomycin (gram positive) |
| dz that produces marfinoid habitus | homocystinuria, marfan, MEN2 |
| genetic phenomenon of dz that produces marfinoid habitus | locus heterogeneity -> mutations at diff loci produce same phenotype |
| example of locus heterogeneity | albinism |
| effects of propnalol in thyrotoxicosis | decreased sympathetic action; decreased peripheral conversion of T4 to T3 |
| cilostazol | used for intermittant claudication, coronary vasodilation, prevention of stroke or TIA, (w aspriin), angina prophylaxis |
| cilostazol moa | ; PDE inhibitor -> increases CAMP- >decreases platelet aggregation and direct arterial vasodilator |
| primary hyperaldosteronism | increased Na or normal(hypernatremia is rare due to aldosterone escape-> compensatory ANP leads to diuresis and Na loss), increased BP, decreased K+ and H+, increased HCO3 |
| what catalyzes peptide bond formation | ribosomal rRNA -> transfers growing polypeptide to aa. in A site |
| what drug blocks peptide bond formation | clindamycin and chloramphenicol (50s) |
| glucose 6 phosphatase location | cytosol |
| glucose 6 phosphatase function | G6P to glucose |
| where is glucose 6 phosphatase not located (tissue) | muscle |
| fructose 16 bisphosphatase localation | cytosol; F16BP -> F6P |
| OAA to PEP requires?\ | PEP carboxykinase, GTP (from the succinyl CoA -> succinate), location in cytosol |
| alport symptoms | nephritis and deafness; eyes may be involved; x linked |
| collagen synthesis def | hydroxylation - scurvy; glycosylation-OI; crosslinking covalently -ehler's danlos |
| 5 drugs that act on microtubules | mebendazole, vincristine, griseofulvin, paclitaxel, colchicine |
| type 1 collagen | bone, skin, tendone, late wound repari |
| type 2 collagen | carTWOlidge |
| type 3 collagen | reticulin (skin, blood vessels, granulation tissue) |
| type 4 | basement membrane; alport |
| what kind of FA and AA can enter gluconeogenesis | odd chain FA and branched chain AA |
| why can't even chain FA enter gluconeogenesis | they yield only acetyl coA equivalents |
| direction of kinesin | negative to positive = body to periphery |
| dyenin | periphery back to body pos to neg |
| what is folate converted to | tetrahydrofolate THF= coenzyme for 1 carbon transfer/methylation rx |
| SAM consists of | ATP + methionine |
| SAM function | NE to EPI, transfers methyl |
| SAM depends on | folate and b12 , which increase methionine |
| what is b12 a cofactor for? | 1. homocysteine methyltransferase (transfers CH3 group) 2. methylmalonyl coA mutase |
| patau's | cleft LIP, holoprosencephaly, polydactly |
| DMD | frameshift -> deletion of DMD |
| becker's | no frameshift, mutated DMD; later onset |
| B3 | NAD - 3ATP, tryptophan -> niacin needs b6 |
| what can cause B6 def | hartnup, malignant carcinoid syndrome (increased tryptophan metabolisim) INH |
| what bacterial vacine is not conjugated | pneumovax |
| viral envelopes from wher? except? | plasma membraneas virus exits cells. except herpesvirus -> from nuclearmembrane |
| what SE of levopoda can carbidopa not help? | behavioral changes- anciety, insomnia, confusion, hallucinations |
| only antifungal that inhibits cell wall peptidoglycan synthesis | caspofungin |
| syphillis screen with inform with | screen with VDRL; cinfirm with FTA-AbS |
| HMP shunt | no ATP used or produced |
| effect of lactose on operon | blocks repressor; increased lactose -> increased lactose metabolism |
| alkaptonuria/ochronosis | decreased homogentistic acid oxidase -> needed to degrade tyrosine -> fumarate; AR; urine turns black; brown pigmented sclera, dark connective tissue, may have arthralgias |
| niemann pick | sphingomylinase; AR; accumulation of sphingomyelin; HSM, foam cells, cherry red spot, neurodeg |
| gaucher's | glucocerebroside; AR; HSM, aseptic femur necrosis, bone crisis, crumpled paper |
| when can INH be used as monotherapy for TB? | positive PPD + negative chest x-ray (no clinical dz) |
| tox of isoniazid | neurotoxicitiy, hepatotoxicity, lupus |
| what must happen to the HepDAg of HepD before it can infect hepatocytes? | must be coated by HbsAg of Hepb |
| ADPKD | polycystic liver dz, MVP, berry aneurysm, bilateral |
| kwashiokor | protein def; edema, anemia, fatty liver |
| tellurite plate, loffler's media | c. diphtheria |
| most important pathogenic mchn of shigella | invasion - mucosal invasion through M cells in peyer's patches; shiga toxin |
| pompe's disease | lysosomal alpha 1,4 glucosidase (acid maltase); heart liver, muscle |
| Cl shift | results in increased Cl in venous RBC and decreased Cl in arterial RBC |
| orotic aciduria | inability to convert orotic acid -> uMP (pyrimidine synthesis), defect in orotic acid phosphoribosyltransferase or orotidine 5 phosphate decarboxylase; increased urine orotic acid, megaloblastic anemia, failure to thrive, tx with oral uridine |
| carnitine def | decreased transport of FA into mitochondria -> toxic accumulation; weakness, hypotonia, hypoketotic hypoglycemia |
| carnitine def | impairs FA transport into mitochondria, restricting ketone body production |
| mcardle's | glycogen phosphorylase; increased muscle glycogen, cannot break it down, muscle cramps myoglobinuria with strenuous exercise |
| IV hypertriglyceridemia | increased VLDL, increased TG in blood, hepatic VLDL overproduction, pancreatitis |
| I hyper chylomicronemia | increased chylomicrons, TG, cholesterol, LPL def, altered C2, pancreatitis, HSM, eruptive/pruritic xanthoma, no increased risk for atherosclerosis |
| 2a familial hypercholesterolemia | increased LDL, increased cholesterol in blood, AD, absent or decreased LDL rec, accelerated atherosclerosis, tendon (Achilles) xanthoma, corneal arcus |
| B48 | chlyomicron secretion - chlyomicrons and remnant |
| A1 | activates LCAT, HDL and chylomicrons |
| B100 | binds LDL receptor; on LDL, VLDL, IDL |
| remannt uptake | all except LDL |
| LPL cofactor | VLDL and chylomicron |
| receptor mediated endocytosis | cholesterol uptake by cells (mediated by LDL receptor) |
| carrier mediated transport | facillitated diffusion - glucose transport via GLUT -> preference for D glucose |
| what does HIV bind on T cells? | CCR5, CXCR4 and CD4 |
| what does HIV bind on macrophages | CCR5 and CD4 homozygous CCR5 mutation = immunity |
| adenovirus | acute hemorrhagic cystitis, sore throat (febrile pharyngitis) 2. pneumonia 3. conjunctivitis |
| vitamin A used as treatment for | AML M3, measles, acne |
| vitamin A excess | arthralgias, skin changes, alopecia, papilledema, teratogen |
| aa needed for purine synthesis | aspartate (also for pyrimidine), glargince, glycine |
| for which enzymes is thiamine pyrophosphate TPP a cofactor? | decarboxylation reactions 1. pyruvate dehydrogenase (glycolysis) 2. alpha ketoglutarate, 3. transketolase 4. branched chain AA dehydrogenase |
| ADA def | inhibition of ribonucleotide reductase -> imbalance in nucleotide pool -> decrease in DNA synthesis -> decrease lymphocytes; Scid |
| what do ATP and GTP do in protein translation | ATP = trna ACTIVATION (charging) by aminoacyl-tRNA synthestase |
| GTP for protein translation | tRNA GRIPPING (initiation) and Going (translocation) |