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Daniel's random 8

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
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)
Created by: ilovemusic007



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