Author: Anonymous

A 4-year-old boy is referred to genetics for developmental delay, autism spectrum disorder, and multiple congenital anomalies. Physical examination reveals mild dysmorphic facial features, hypotonia, and a ventricular septal defect. There is no significant family history. The geneticist suspects an underlying chromosomal disorder but is concerned that the abnormality may be too small to be identified on a routine karyotype. Which of the following is the most appropriate first-line genetic test?

A 16-year-old obese adolescent with no prior medical history presents with a 2-week history of polyuria and polydipsia and now has progressive confusion and inability to walk. Glucose is 1,240 mg/dL, Na 158 mEq/L, K 4.1 mEq/L, HCO3 19 mEq/L, pH 7.30, effective osmolality 374 mOsm/kg. There are no Kussmaul respirations and no fruity breath. Which represents the most appropriate initial management priority?

A 10-year-old is referred for weight gain. Review of his growth chart shows he has gained 9 kg over 18 months but his height has dropped from the 52nd to the 12th percentile over the same period. BMI is at the 97th percentile. BP is 148/90 mmHg. Examination reveals wide violaceous abdominal striae, a dorsocervical fat pad, and proximal muscle weakness (he cannot rise from a chair without using his arms). Which diagnosis best explains this constellation of findings?

A 15-year-old with new-onset Type 1 diabetes presents in DKA: glucose 540 mg/dL, pH 7.11, HCO3 5 mEq/L, Na 131 mEq/L, K 3.1 mEq/L, anion gap 31. He has received a 10 mL/kg 0.9% NS bolus over 1 hour. The team is ready to initiate the insulin infusion. What should happen first before starting insulin?

A 12-day-old male infant presents with progressive poor feeding, vomiting, and lethargy. He was born at term after an uncomplicated delivery and was well until day 7. Vital signs: HR 182 bpm, BP 52/30 mmHg, temperature 37.1°C. Weight is 12% below birth weight. Labs: Na 116 mEq/L, K 7.9 mEq/L, glucose 32 mg/dL, pH 7.14. ECG shows peaked T-waves. He has no ambiguous genitalia. Blood cultures are pending. What is the most likely diagnosis?

A 16-year-old male presents with 1 week of fatigue, nausea, decreased appetite, and abdominal discomfort. Over the past 2 days, his parents have noticed yellowing of his eyes. He recently returned from a mission trip where he consumed untreated water. On examination, he is jaundiced and has mild right upper quadrant tenderness. Laboratory studies reveal: AST: 1,850 U/L ALT: 2,200 U/L Total bilirubin: 6.4 mg/dL Direct bilirubin: 4.8 mg/dL INR: 1.1 Hepatitis serologies show: Hepatitis A IgM: Positive Hepatitis B surface antigen: Negative Hepatitis C antibody: Negative Which of the following is the most appropriate management?

A 6-year-old boy with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is brought to the emergency department with vomiting and poor oral intake for the past 24 hours due to a viral illness. His parents report increasing lethargy and difficulty waking him this morning. Vital signs are: HR: 135 beats/min BP: 90/52 mmHg RR: 24 breaths/min Temperature: 37.8°C Laboratory studies reveal: Glucose: 38 mg/dL Serum bicarbonate: 18 mEq/L Ammonia: normal The child is somnolent but arousable. Which of the following is the most appropriate immediate management?

A 7-year-old with Trisomy 21 presents for a routine health maintenance visit. He is in second grade with an individualized education plan. His parents have questions about surveillance. Which combination of health maintenance measures is most appropriate at this visit?

An EMT crew is dispatched to a long-term care facility to transport an 84-year-old patient to the emergency department for evaluation of an acute medical complaint. To ensure proper reimbursement from Medicare or Medicaid, the EMTs must document on the Patient Care Report (PCR) that ambulance transport was medically necessary—meaning it would have been unsafe or impossible to transport the patient by any other means. Which of the following clinical documentation entries provides the required objective evidence that a patient meets the definition of being “bed-confined” for medical necessity reimbursement?

When performing bag-mask ventilation on an infant, which anatomical or physiological factor requires the EMT to deliver gentle, carefully controlled breaths?