NBME CBSSA flashcards
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- Autosomal dominant recurrence risk
- Each child of an affected heterozygous parent has a 50% chance of inheriting the allele. Male-to-male transmission occurs, and the pedigree shows vertical transmission across generations.
- Autosomal recessive recurrence risk
- Two carrier parents have a 25% chance per pregnancy of an affected child, 50% chance of a carrier child, and 25% chance of an unaffected noncarrier child.
- X-linked recessive inheritance
- No male-to-male transmission occurs. Sons of carrier mothers have a 50% risk of disease, and daughters have a 50% chance of being carriers.
- Hardy-Weinberg carrier frequency
- For a recessive allele with frequency q, carrier frequency is 2pq, which approximates 2q when q is small. Disease frequency is q squared.
- Competitive inhibition kinetics
- A competitive inhibitor binds the active site reversibly, raising apparent Km while leaving Vmax unchanged because high substrate concentration can outcompete the inhibitor.
- Rate-limiting enzyme of glycolysis
- Phosphofructokinase-1 catalyzes the committed step of glycolysis and is activated by AMP and fructose-2,6-bisphosphate and inhibited by ATP and citrate.
- Oxygen dissociation curve right shift
- Increased 2,3-BPG, carbon dioxide, hydrogen ion, and temperature decrease hemoglobin oxygen affinity, shifting the curve right and favoring oxygen unloading in tissues.
- Diphtheria toxin mechanism
- Diphtheria exotoxin ADP-ribosylates elongation factor 2, halting protein synthesis and causing pseudomembranous pharyngitis, myocarditis, and neuropathy.
- STEMI reperfusion target
- Primary percutaneous coronary intervention should be performed within 90 minutes of first medical contact for ST-elevation myocardial infarction, or fibrinolysis if transfer delays exceed that window.
- Heart failure reduced ejection fraction therapy
- Mortality benefit comes from beta-blockers, ACE inhibitors, ARBs, or ARNI, mineralocorticoid receptor antagonists, and SGLT2 inhibitors. Loop diuretics relieve congestion without mortality benefit.
- Stroke thrombolysis window
- Intravenous alteplase may be given within 4.5 hours of last known well after noncontrast head CT excludes intracranial hemorrhage and blood pressure is controlled.
- DKA insulin and potassium order
- Give IV fluids first. Start insulin infusion only when serum potassium is above 3.3 mEq/L, because insulin drives potassium intracellularly and total body potassium is already depleted.
- Preeclampsia severe features treatment
- IV magnesium sulfate prevents and treats eclamptic seizures; labetalol, hydralazine, or nifedipine control severe hypertension. Delivery is the definitive treatment.
- CURB-65 components
- Confusion, urea above 7 mmol/L, respiratory rate 30 or higher, low blood pressure, and age 65 or older. Higher scores predict mortality and support inpatient admission.
- Infant developmental milestones
- Social smile at 6 weeks, head control at 3 months, sitting unsupported at 6 to 8 months, walking at 12 to 15 months, and two-word phrases by 18 to 24 months.
- Colorectal cancer screening start
- Average-risk adults begin screening at age 45, with colonoscopy every 10 years or annual stool-based testing as alternatives.
- Vancomycin therapeutic trough
- Target trough is 10 to 20 mcg/mL, with 15 to 20 mcg/mL recommended for severe infections such as bacteremia, endocarditis, and osteomyelitis.
- Warfarin INR targets
- INR 2 to 3 for most indications including atrial fibrillation and venous thromboembolism; INR 2.5 to 3.5 for mechanical mitral valves.
- Number needed to treat
- NNT equals 1 divided by the absolute risk reduction. It expresses how many patients must be treated for one additional patient to benefit.
- Winter formula compensation
- In metabolic acidosis, expected PaCO2 equals 1.5 times serum bicarbonate plus 8, with a margin of plus or minus 2. Values outside this range indicate a mixed disorder.
- Chronic hyponatremia correction limit
- Correct chronic hyponatremia by no more than 8 to 10 mEq/L in 24 hours to avoid osmotic demyelination syndrome.
- Sepsis initial resuscitation bundle
- Measure lactate, draw blood cultures before antibiotics, give broad-spectrum antibiotics and 30 mL/kg crystalloid for hypotension or lactate 4 mmol/L or higher, then vasopressors for MAP below 65 mmHg.
- Lithium therapeutic range
- Maintenance serum lithium is typically 0.6 to 1.2 mEq/L. Toxicity risk increases with dehydration and with NSAID, thiazide, or ACE inhibitor use.
- Digoxin level in heart failure
- Target serum digoxin is 0.5 to 0.9 ng/mL in heart failure. Higher levels increase toxicity without added benefit.
- Beck triad
- Hypotension, distended neck veins, and muffled heart sounds indicate cardiac tamponade, which requires urgent pericardiocentesis.
- Charcot triad
- Fever, jaundice, and right upper quadrant pain indicate ascending cholangitis, typically from an obstructing common bile duct stone requiring antibiotics and drainage.
- Neonatal bilious emesis
- Bilious vomiting in a neonate is a surgical emergency suggesting malrotation with volvulus or intestinal atresia until proven otherwise.
- Young infant fever rule
- Fever of 38 degrees Celsius or higher in an infant younger than 28 days requires a full sepsis evaluation and hospitalization with empiric antibiotics.
- Serotonin versus neuroleptic malignant
- Serotonin syndrome shows clonus, hyperreflexia, and hyperthermia after serotonergic drugs. Neuroleptic malignant syndrome shows lead-pipe rigidity, bradyreflexia, and elevated creatine kinase after dopamine antagonists.
- Incidence versus prevalence
- Incidence counts new cases in a population at risk over a period. Prevalence counts all existing cases at a point in time and rises with longer disease duration.
- Sensitivity and predictive value
- Sensitivity and specificity are intrinsic test properties. Positive and negative predictive values depend on disease prevalence in the tested population.
- Anaphylaxis epinephrine dose
- Give intramuscular epinephrine 0.3 to 0.5 mg of 1:1000 solution into the anterolateral thigh, repeating every 5 to 15 minutes as needed.