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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) |