A 34-year-old woman with a history of migraine with aura presents to the clinic seeking treatment options. She has a history of hypertension and stable coronary artery disease and reports that her previous triptan therapy (sumatriptan) caused chest tightness. The physician recommends a new medication, Lasmiditan, which is effective for migraines but lacks vasoconstrictive properties. Which of the following best describes the mechanism of action of Lasmiditan?
A 6-month-old infant with isovaleric acidemia is stable on a leucine-restricted diet and carnitine supplementation. The parents ask about long-term complications and monitoring. Which of the following is the most important long-term monitoring parameter for this patient?
A 2-week-old infant with known isovaleric acidemia is brought to the emergency department with vomiting, lethargy, and tachypnea. Blood gas analysis reveals severe metabolic acidosis. What is the most appropriate immediate management for this patient?
A 9-month-old boy with a history of recurrent vomiting, developmental delay, and metabolic acidosis is diagnosed with isovaleric acidemia. The pediatric metabolic specialist discusses a long-term treatment plan with the parents. Which of the following is the most effective long-term management strategy for this child?
A 2-week-old infant presents with vomiting, poor feeding, lethargy, and irritability. The parents mention that the baby’s urine has a ‘sweaty feet’ odor. Laboratory tests reveal high anion gap metabolic acidosis and hyperammonemia. A metabolic workup confirms the diagnosis of an organic acidemia. Which enzyme is deficient in this disorder?
A 3-day-old newborn is brought to the emergency department due to poor feeding, lethargy, and vomiting. The baby was born at term via an uneventful vaginal delivery. On examination, the infant is hypotonic, with tachypnea and a “sweaty feet” odor. Laboratory studies reveal severe metabolic acidosis, anion gap elevation, and hyperammonemia. Newborn screening results show elevated C5-acylcarnitine levels. Which of the following tests would most likely confirm the diagnosis?
A 3-day-old newborn presents with poor feeding, vomiting, lethargy, and a “sweaty feet” odor. Laboratory tests reveal metabolic acidosis, hyperammonemia, and elevated urinary organic acids. What is the most likely diagnosis?
A 60-year-old man with Parkinson’s disease is brought to the clinic by his family due to worsening hallucinations and confusion. He has been on levodopa-carbidopa, pramipexole, and amantadine for several years. His symptoms began gradually and are worse at night. Question: Which medication is most likely contributing to his psychiatric symptoms?
Patient: Mr. Thompson, a 65-year-old former accountant, notices he has trouble getting out of a chair and his movements seem “stuck” at times, especially when turning around. Which of the following is the most characteristic pathological feature found in the brain of someone with Parkinson’s disease?