Basic Facts
A 2-day-old newborn is noted to have hypotonia, upward-slanting palpebral fissures, a flat facial profile, and a single palmar crease. Genetic testing confirms an extra copy of chromosome 21. What is the diagnosis?
Down syndrome
A 3-year-old boy develops a barking cough, inspiratory stridor, and hoarseness several days after a viral upper respiratory infection. What is the most likely diagnosis?
Croup
A 22-year-old sexually active woman presents with dysuria and urinary frequency for 2 days. Urinalysis shows positive leukocyte esterase and nitrites. What is the next best step in management?
Antibiotics
(Dx: Uncomplicated cystitis)
A 22-year-old college student presents with fever, sore throat, posterior cervical lymphadenopathy, and fatigue. Heterophile antibody testing is positive. What is the diagnosis?
Infectious mononucleosis
A physician discusses a patient’s HIV diagnosis with the patient’s spouse without obtaining permission from the patient first. Which ethical principle has been violated?
Confidentiality
A 29-year-old pregnant woman with chronic hypertension presents for prenatal care. Her physician reviews her medications and immediately discontinues one because of the risk of fetal renal abnormalities and oligohydramnios. What medication class is contraindicated in pregnancy?
ACE inhibitors
A 32-year-old woman presents with weight loss despite increased appetite, heat intolerance, palpitations, and bulging eyes. Physical examination reveals a diffusely enlarged thyroid gland. What is the diagnosis?
Graves disease
A 19-year-old man develops diffuse urticaria, wheezing, and hypotension within minutes of eating peanuts. He is struggling to breathe in the emergency department. What is the next best step in management?
IM epinephrine
A 2-year-old child presents with abdominal distention, hypertension, sweating, and elevated urinary catecholamine metabolites. Imaging reveals a mass crossing the midline. What is the most likely diagnosis?
Neuroblastoma
A 16-year-old girl presents to her pediatrician requesting contraception. She states that she is sexually active but does not want her parents informed because she fears punishment at home. She demonstrates understanding of the risks and benefits of treatment. What is the most appropriate physician response?
Maintaining patient confidentiality and providing appropriate care
A 70-year-old man with atrial fibrillation presents for follow-up after a transient ischemic attack. He is started on medication to reduce his risk of future embolic stroke formation. What type of medication is most appropriate?
anticoagulation with a DOAC or warfarin
A 25-year-old man presents with sharp chest pain that improves when leaning forward. He recently recovered from a viral illness. ECG demonstrates diffuse ST-segment elevations. What is the most likely diagnosis?
Acute pericarditis
A 64-year-old man presents with fever, productive cough, and confusion. Chest x-ray demonstrates right lower lobe consolidation, and oxygen saturation is 86% on room air. What is the next best step in management?
Hospitalization and IV antibiotics
A 58-year-old man with chronic alcohol use presents with epigastric pain radiating to the back, nausea, and vomiting. Serum lipase is elevated. What is the most likely diagnosis?
Acute pancreatitis
15-year-old boy admits to occasional marijuana and alcohol use during a confidential clinic visit. He denies suicidal ideation, abuse, or plans to drive while intoxicated. His mother later asks the physician what was discussed during the appointment. What is the most appropriate response?
Maintaining confidentiality unless there is risk of harm to the patient or others
A 68-year-old man with a history of smoking presents with worsening dyspnea and chronic productive cough. Pulmonary function testing demonstrates an increased total lung capacity and decreased FEV1/FVC ratio. What is the most likely diagnosis?
COPD
A 67-year-old man with a 40-pack-year smoking history presents with painless hematuria and urinary frequency. Imaging reveals a bladder mass. What malignancy is most likely?
Bladder cancer
A 48-year-old woman with diabetes presents with fever, nausea, flank pain, and costovertebral angle tenderness. Urinalysis demonstrates white blood cell casts. What is the best next step in management?
Antibiotics
(Dx: pyelonephritis)
A 70-year-old woman presents with progressive dyspnea, orthopnea, bilateral lower-extremity edema, and bibasilar crackles on examination. Echocardiography demonstrates reduced ejection fraction. What is the most appropriate long-term management?
Guideline-directed heart failure medications such as ACE inhibitors, beta blockers, and diuretics
Parents of a 6-year-old child refuse a lifesaving blood transfusion for their child due to personal beliefs. The child is rapidly deteriorating. What is the next best step?
Seek state intervention or emergency treatment authorization
A 34-year-old woman presents with fatigue, weight gain, constipation, and cold intolerance. Physical examination reveals delayed relaxation of deep tendon reflexes. Laboratory testing shows elevated TSH and positive anti-thyroid peroxidase antibodies. What is the most likely diagnosis?
Hashimoto thyroiditis
A 24-year-old tall, thin man suddenly develops pleuritic chest pain and shortness of breath while studying for exams. Physical examination reveals decreased breath sounds and hyperresonance on the right side. What is the most likely diagnosis?
Spontaneous pneumothorax
A postoperative patient suddenly develops acute shortness of breath, pleuritic chest pain, tachycardia, and hypoxemia on postoperative day 3. What is the next best step in diagnosis?
CT pulmonary angiography
A 45-year-old woman with obesity presents with daytime sleepiness, loud snoring, and morning headaches. Her husband reports episodes where she stops breathing during sleep. What is the recommended initial treatment?
CPAP
(Dx: Sleep apnea)
A hospitalized patient with pneumonia repeatedly states a desire to leave against medical advice. The patient clearly explains the risks, demonstrates intact decision-making capacity, and continues to refuse treatment. What is the most appropriate next step?
Allow the patient to leave AMA after informed discussion and documentation