ABCDEFGHIJKLMNOPQRST
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What is sensitivity?probabilty that a test detects a disease when disease is present. TP/(TP+FN)behavioral science
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What is specificity?probability that a disease non-disease when disease is absent. TN/(TN+FP)behavioral science
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100% sensitivity means what?low false negative rate, good for screening disease with low prevelancebehavioral science
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100% specificity means what?low flase positive rate, good for confirmatory test after a positive screening test.behavioral science
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What is case-control study? what does it measure?compares group of people with a disease to a group without the disease. Measures odds ratio.behavioral science
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What is a cohort study?What does it measure?compares a group with an exposure or risk to a group without it. Measures relative risk.behavioral science
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What is a cross-sectional study? what does it measure?collects data from a group to assess frequency of a disease in a population. Measures prevalence.behavioral science
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What is the difference between a double and triple blinded study?double = patients and doctors don't know, triple = even researchers analyzing data don't knowbehavioral science
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what does a phase I trial do?small number of healthy people, assess safety,toxicity, and pharmokineticsbehavioral science
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what does a phase II trial do?small number of people with the disease studied; assess efficacy, dosing, and adverse effectsbehavioral science
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what do phase III trials do?large, randomly assigned groups. compares standard of care to new treatment.behavioral science
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what do phase IV trials do?postmarketing surviellance, looks for longterm adverse events.behavioral science
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What is positive predictive value? (PPV)proportion of positive tests that are a true positive. TP/(TP+FP)behavioral science
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What is negative predicitive value?proportion of negative tests that are a true negative. TN/(FN+TN)behavioral science
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contrast prevalence to incidenceincidence = new cases, prevalence = all currents casesbehavioral science
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What is an odds ratio?used in case-control studies. odds that a group with a disease was exposed to a risk.behavioral science
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What is relative risk?used in cohort studies. risk of developing a disease if exposed to a risk.behavioral science
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what is attrutitable risk?proportion of disease occurences cause by an exposure.behavioral science
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what is absolute risk reduction (ARR)?absolute reduction in risk between treatment group and a control group.behavioral science
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How is number needed to treat calculated?number of patients needed to treat for 1 patient to get a benefit. 1/ARRbehavioral science
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How is number to harm calculared?number of patients needed tobe exposed to a risk in order to get it. 1/attributable risk.behavioral science
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constract precision vs. accuracy.reproducability vs trueness of resultbehavioral science
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What does random error cause?reduces precision of a testbehavioral science
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How do you decrese standard deviation?by increasing precision.behavioral science
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What does systematic error cause?reduces accuracy in a test.behavioral science
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What is selection bias?nonrandom assignment to a group.behavioral science
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what is recall bias?knowledge of presence of a disease alters recall of subjects; common in retrospective.behavioral science
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what is sampling biassubjects are not representative of the general population - is a selection biasbehavioral science
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what is late-look bias?information gathered at inapporiate timebehavioral science
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what is procedure bias?subjects in different groups are not treated the samebehavioral science
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what is confounding bias?occurs when a factor is related to both exposure and outcomebehavioral science
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what is lead-time bias?early detection confused with increased survival.behavioral science
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what is observer-expectancy effect?when researchers belief in the efficacy of a treatment alters treatment changesbehavioral science
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what is hawthorne effect?group being studied changes behavior because they know they are being studied.behavioral science
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5 ways bias can be reduced:1.blind studies. 2.placebo groups. 3.crossover studies. 4.randomization limits selection and confounding bias 5. matching to reduce confoudning bias.behavioral science
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what is postive skewmound to the left, tail to the right mean>median>mode.behavioral science
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What is negative skew?mound to the right, tail to the left. mean<median<mode. behavioral science
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What is type I error?stating there is an effect when there isn't onebehavioral science
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What is type II error?stating there is not an effect when one does exist (to fail to reject the null hypothesis)behavioral science
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What is statistical power and how do you increase it?probability of rejecting null hypothesis when it is false. increases with: larger sample size, large expected effect size, increased precision of measurement.behavioral science
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What is a confidence interval?range of values in which a specificed probability of means would expected to fall. behavioral science
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when to use t-test?comparing difference of means in 2 groups.behavioral science
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when to use ANOVAcheck differences of means in 3 or more groups.behavioral science
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When to use Chi-square test?check differences in 2 of more percentages or proportions, NOT MEANS.behavioral science
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what is pearson's correlation coefficient?r is between -1 and +1. closer to 1 the stronger the linear correlation between 2 variables.behavioral science
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compare primary, secondary, and tertiary prevention.PDR Prevent(vaccines), Detect(pap smear), Reduce disability(chemotherapy)behavioral science
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Medicare and medicaid are for what groups?medicarE = elderly, medicaiD = destitute.behavioral science
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What is apgar score?done at 1min and 5min. appearance, pulse, grimace, activity, respiration. >7 is good, <4 means resuscitate!behavioral science
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What is a low birth weight?<2500g. increased risk or SIDS and increased overall mortality. behavioral science
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Give developmental milestones birth-3mo(motor,social,verbal)rooting reflex,head up,moro reflex gone;smile;orient to voice.behavioral science
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Give developmental milestones b7-9mo(motor,social,verbal)sits alone,crawl,transfer toys in hand;stranger anxiety;responds to name, instructions,peekaboo.behavioral science
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Give developmental milestones 12-15mo(motor,social,verbal)climb stairs, stack blocks by agex3 blocks;rapprochment of mom;200 words and 2 word phrases by 2behavioral science
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Give developmental milestones 24-36mo(motor,social,verbal)feeds self,kick ball;core gender identity,parallel play;pee at age 3behavioral science
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Give developmental milestones 3yr(motor,social,verbal)ride tricycle,copy circle;spends part of a day away from mom;900 words and complete sentencesbehavioral science
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Give developmental milestones 4yr(motor,social,verbal)uses zippers,grooms self,can hop on 1 foot;imaginary friend,cooperative play;can tell detailed storybehavioral science
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what is rooting reflexturn head to stimulus and make sucking face for nipplebehavioral science
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what is moro reflexkid startled by being droppedbehavioral science
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what is babinski signtickle foot, toe goes up. not normal after age 2behavioral science
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give BMI formulaweight in kg/(height in meters)^2behavioral science
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when does grief become patholgoicafter 1 year.behavioral science
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What is orotic aciduria(physiology,findings,tx)inability to convert orotic acid to UMP due to defect in UMP synthetase; increased orotic acid in urine,megaloblastic anemia that isn't improved by B12, failure to thrive,no hyperammonemia;oral uridine administration.biochem
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What is adenosine deaminase deficiency(give physiology)Excess ATP and dATP via inhibition of ribonucleotide reductase->prevents dna synthesis and decrease lymphocyte count causing SCID. biochem
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What is Lesch-Nyan syndrome(physiology,findings)defective purine salvage pathway due to absence of HGPRT; excess uric acid leads to retardation,self-mutilation,hyperuricemia,gout,choresoathetosis.biochem
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Mutation in ataxia telangiesticanonhomologous end joining, which repairs dsDNA breaks.biochem
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mutaiton in xeroderma pigmentosumnucleotide excision repair, which releases damaged basesbiochem
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What cell types are permanentneurons, skeletal and cardiac muscle, RBCsbiochem
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what cells types are stable(quiescent)hepatocytes,lymphocytesbiochem
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what cell types are labile?bone marrow, gut epithelium,skin,hair follicles,germ cellsbiochem
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I-cell disease(physiology,findings)inclusion cell disease, failure of addition of mannose-6-phosphate to lysosome proteins which leads to lysosomal storage disease(proteins never added to lysosome);coarse face,clouded cornea,high plasma levels of lysosomal enzymes.biochem
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Chediak-Higashi syndrome(physiology,findings)mutation in lysosomal trafficking regulator gene (LYST), microtubule sorting does not occur;recurrent pyogenic infections,partial albinism,peripheral neuropathy.biochem
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vimentin stains:connective tissuebiochem
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desmin stains:musclebiochem
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cytokeratin stains:epithelial cellsbiochem
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GFAP stainsneurogliabiochem
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neurofilaments stainneuronsbiochem
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type I collagen(found in,defective in:)bone,skin,tendon,dentin,cornea,late wound repair;defective in osteogenesis imperfecta.biochem
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type II collagen(found in)Cartilage(hyaline),vitreous body,nucleus pulposus)biochem
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type III collagen(found in, defective in)reticuin,skin,blood vessels,uterus,granulation tissue,fetal tissue;Ehler's danlosbiochem
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Type IV collagen(found in, defective in)basement membrance and basal lamina;alport sydromebiochem
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Marfans syndrome is a defect of:Fibrillin(found in elastin)biochem
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Prader-Willi syndrome(genetics,findings)paternal allele on chromosome 15 is not expressed;mental retardation,hyperphagia,obesity,hypogonadism,hypotoniabiochem
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Angelman's syndrome(genetics,findings)Inactivation of mother's allele on chromosome 15; mental retardation,seizures,ataxia,inappropriate laughterbiochem
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Achondroplasia(dominance,physiology,findings)Autosomal dominant. defect in fibroblast growth factor(FGF)receptor 3.;Dwarfism,short limbs,larger head but normal trunk.assoc with advanced paternal age.biochem
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Autosomal-dominant polycycstic kidney disease(ADPKD)(dominance,physiology,findings)Autosomal dominant;mutation in PKD1, chromosome 16;bilat. massively enlarged kidneys, multiple huge cysts. assoc w/polycystic liver dx,berry anerusyms,mitral valve prolapse.biochem
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what diseases are associated with ADPKD?polycystic liver disease, berry aneurysms, mitral valve prolapse.biochem
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Familial adenomatous polyposis(dominance,physiology,findings)autosomal dominant;mutation on APC gene. chromosome 5;colon covered in polyps after puberty.biochem
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Hereditary hemorrhagic telangiectasia(osler-weber-rendu syndrome)(dominance,physiology,findings)autosomal dominant;inherited disorder of blood vessels;telangiectasia, recurrent epistaxis, AVMS, skin discolorations.biochem
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Hereditary spherocytosis(dominance,physiology,findings)autosomal dominance;spheroids due to spectrin or ankyrin defects;hemolytic anemia, increased MCHC, need spleenectomy to cure.biochem
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Huntington's disease(dominance,physiology,findings)autosomal dominant;CAG trinucleotide repeat gene on chromosome 4;depression,caudate nucleus atrophy,chorioform movements,decreased levels of GABA and Ach in the brain.biochem
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Neurofibromatosis type 1(von recklinghausen disease)(dominance,physiology,findings)autosomal dominant;mutation in long arm of chromosome 17;cafe-au-lait spots,neural tumors,lisch nodules, optic gliomas.biochem
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neurofibromatosis type 2(dominance,physiology,findings)autosomal domaint;NF2 gene on chromosome 22;bilateral acoustic schwannomas, juvenile cataractsbiochem
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Tuberous sclerosis(dominance,findings)autosomal dominant;facial lesions,hypopigmented ash leaf spots,cotical and retinal hamartomas,seizures,cardiac rhabdomyomas,increased incidence of astrocytomas.biochem
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von Hippel-Lindau(dominance,physiology,findings)autosomal dominant;deletion of VHL gene(a suppressor) on chromosome 3 which results in constitutive expression of HIF and increased angiogenic factos;hemangioblastomas,bilateral multiple renal cell carcinomas.biochem
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Cystic fibrosis(dominance,physiology,findings)autosomal-recessive;defect in CFTR on chromosome 7. CFTR is a calcium channel;meconium ileus in newborns,bronchiectasis,pancreatic insufficiency,nasal polyps,intertility in males due to missing vas deferns.biochem
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what lab is diagnostic for cystic fibrosis?increased calcium concentration in sweat (calcium channel can't resorb in skin. Note: in lungs this channel is supposed to EXCRETE calcium).biochem
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Fragile-X syndrome(dominance,physiology,findings)X-linked;defect in methylation of FMRI gene,is a CGG trinucleotide repeat;mental retardation,macroorchidism,long face and jaw,everted ears,autism, mitral valve prolapse.biochem
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Duchenne's dystrophy(dominance,physiology,findings)X-linked frameshift;deletion of dystrophin gene leads to accelerated muscle breakdown;pseudohypertophy of calf,pelvic and girdle muscle weakness at first,onset before 5, use gowers manuever.biochem
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Why do mutaitons in dystrophin gene occur so often?longest gene in the human genome, anchors muscle fibers.biochem
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What are the pregancy quad screen results for down syndrome?decrease a-fetoprotein,estirol. increased B-HcG, inhibin A.biochem
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What are the pregancy quad screen results for edwards syndrome?decreased: a-fetoprotein,BHcg, estriol. normal: inhibin A.biochem