USMLE Step 1 Review
111 flashcards by MentisLibrary
Original study items across the Step 1 content outline: general principles and biostatistics, biochemistry and genetics, microbiology and immunology, pharmacology, and organ system physiology and pathology.
- What do the mnemonics SNOUT and SPIN mean?
- A highly SeNsitive test, when Negative, rules a disease OUT. A highly SPecific test, when Positive, rules it IN.
- How does disease prevalence affect predictive values?
- Higher prevalence raises positive predictive value and lowers negative predictive value.
- When is an odds ratio a good approximation of relative risk?
- When the outcome is rare in the population studied.
- How is number needed to treat calculated?
- As the reciprocal of the absolute risk reduction.
- Confounding vs effect modification: what is the difference?
- A confounder distorts the observed association and should be controlled for; an effect modifier means the true effect genuinely differs across strata and should be reported separately.
- Define type I error, type II error and power.
- Type I error is rejecting a true null hypothesis; type II error is failing to reject a false null hypothesis; power is one minus the probability of a type II error.
- What are lead-time bias and length-time bias?
- Lead-time bias makes survival appear longer simply because diagnosis was earlier. Length-time bias makes screening look better because slowly progressive disease is preferentially detected.
- Which biases threaten case-control studies in particular?
- Recall bias and selection bias.
- Incidence vs prevalence: how do they relate?
- Incidence is new cases per population at risk per unit time; prevalence is existing cases over the total population. Prevalence approximates incidence multiplied by average disease duration.
- Which minors can consent to their own medical care in most jurisdictions?
- Emancipated minors, and minors seeking care for sexually transmitted infections, contraception, pregnancy related care and substance use treatment in many jurisdictions.
- Which enzyme is rate limiting for glycolysis, and what regulates it?
- Phosphofructokinase-1, activated by fructose-2,6-bisphosphate and AMP and inhibited by ATP and citrate.
- Why do red blood cells hemolyze under oxidative stress in G6PD deficiency?
- Glucose-6-phosphate dehydrogenase generates NADPH, which regenerates reduced glutathione. Without it, oxidized hemoglobin precipitates.
- What causes von Gierke disease, and how does it present?
- Glucose-6-phosphatase deficiency, giving glycogen storage disease type I with severe fasting hypoglycemia and hepatomegaly.
- Which glycogen storage disease causes cardiomegaly in infancy?
- Pompe disease, type II, from deficiency of lysosomal acid alpha-glucosidase.
- What is the second wind phenomenon, and which disease shows it?
- Improvement in exercise tolerance after several minutes of activity, seen in McArdle disease from myophosphorylase deficiency.
- Which enzyme deficiency causes Lesch-Nyhan syndrome?
- Hypoxanthine-guanine phosphoribosyltransferase, or HGPRT.
- How is ornithine transcarbamylase deficiency distinguished from hereditary orotic aciduria?
- Both raise urinary orotic acid, but ornithine transcarbamylase deficiency causes hyperammonemia without megaloblastic anemia, while orotic aciduria causes megaloblastic anemia without hyperammonemia.
- Prader-Willi vs Angelman syndrome: what is the genetic distinction?
- Both involve chromosome 15q11-13, but Prader-Willi results from loss of the paternal contribution and Angelman from loss of the maternal contribution.
- What is genetic anticipation, and which diseases show it?
- Increasing severity or earlier onset in successive generations, seen in trinucleotide repeat disorders such as Huntington disease and myotonic dystrophy.
- State the Hardy-Weinberg equations and their assumptions.
- $p + q = 1$ and $p^2 + 2pq + q^2 = 1$, assuming no mutation, no selection, no migration, random mating and a large population.
- How does mitochondrial inheritance behave in a pedigree?
- Transmission is exclusively maternal, and all children of an affected mother may be affected to varying degrees.
- How does homocystinuria differ from Marfan syndrome on examination?
- Both are marfanoid, but the lens dislocates downward and inward in homocystinuria and upward and outward in Marfan syndrome.
- What causes maple syrup urine disease?
- Deficiency of branched-chain alpha-ketoacid dehydrogenase, so leucine, isoleucine and valine accumulate.
- How are gram positive cocci separated in the laboratory?
- By catalase, which is positive in staphylococci and negative in streptococci, and then coagulase, which is positive in Staphylococcus aureus.
- How are streptococci classified by hemolysis and by susceptibility testing?
- Alpha hemolytic species split into optochin sensitive and bile soluble Streptococcus pneumoniae and optochin resistant viridans streptococci. Beta hemolytic species split into bacitracin sensitive group A and bacitracin resistant group B.
- Exotoxin vs endotoxin: what are the key differences?
- Exotoxins are secreted proteins, often extremely potent, heat labile and convertible into toxoid vaccines. Endotoxin is the lipid A of gram negative lipopolysaccharide, heat stable, and cannot be toxoided.
- Which two exotoxins inhibit protein synthesis by ADP-ribosylating elongation factor 2?
- Diphtheria toxin from Corynebacterium diphtheriae and exotoxin A from Pseudomonas aeruginosa.
- Which bacteria are obligate intracellular organisms?
- Rickettsia, Chlamydia and Coxiella.
- Which organisms are urease positive, and why does it matter?
- Proteus, Klebsiella, Helicobacter pylori, Ureaplasma, Nocardia, Cryptococcus and Staphylococcus saprophyticus.
- Which organisms are most dangerous in an asplenic patient?
- Encapsulated organisms, chiefly Streptococcus pneumoniae, Haemophilus influenzae type b and Neisseria meningitidis.