Questões de USMLE

3.602 questões com gabarito e explicação.

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A previously normal child begins deteriorating developmentally at about 6 months of age. She is seen by an ophthalmologist because she no longer responds to visual stimuli. Ophthal
An X-linked genetic disease affects a cation-transporting P-type ATPase, resulting in accumulation of copper in the intestinal epithelium because of failure to transport it normall
A 8-year-old boy presents with hepatomegaly, bilateral renal enlargement, gout, and eruptive xanthomas. Vital signs show BP 118/76 mmHg, HR 102/min, RR 20/min, temperature 37.2°C,
A 2-day-old male neonate presents with microcephaly, micrognathia, cleft palate, ambiguous genitalia, and syndactyly of the second and third toes bilaterally. Vital signs show HR 1
The enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRT) isolated from a child with Lesch-Nyhan syndrome is compared with HGPRT isolated from a healthy control individual
A 2-year-old boy presents to the emergency department with gross hematuria and a palpable right abdominal mass. Vital signs reveal blood pressure of 128/82 mmHg (>95th percentile f
A 9-year-old boy is brought to his pediatrician by his parents who report that he has had difficulty maintaining academic performance despite previous normal development. On examin
A 2-year-old girl presents with global developmental delay, intellectual disability, and multiple congenital anomalies including cardiac defects. Vital signs are stable (BP 95/60,
A 42-year-old woman presents with vaginal bleeding and is diagnosed with endometrial adenocarcinoma. Vital signs are stable (BP 128/82, HR 78). Her father had colon cancer at age 4
A 34 year old woman seeks counseling because her father developed gait instability and choreiform movements in middle age. Genetic testing in the family identified a CAG trinucleot
A 19 year old woman presents with episodic muscle weakness and exercise intolerance. She has a history of sensorineural hearing loss and migraine like headaches. Her mother and mat
An 8-year-old boy presents with severe photosensitivity and multiple freckle-like pigmented lesions on sun-exposed areas. Vital signs are normal; however, he has already undergone
A 45-year-old male with a confirmed diagnosis of hemochromatosis tests negative for the 2 most common mutations in the HFE gene known to cause this disease. The patient and several
A 32-year-old pregnant woman at 28 weeks gestation is concerned about her female fetus inheriting glucose-6-phosphate dehydrogenase (G6PD) deficiency. Her 6-year-old son has the di
An investigator studying protein synthesis in human stem cells isolates tRNA molecules bound to mRNA molecules. The isolated tRNA molecules have inosine in the 5' position of the a
A 58-year-old man with type 2 diabetes presents with anxiety, diaphoresis, and intense hunger 2 hours after taking glyburide. Vital signs show BP 118/76, HR 108, RR 16, temp 37.2°C
A 30-year-old male has been fasting for religious reasons for several days. His blood glucose level is now about 60% of its normal value, but he does not feel lightheaded because h
A 12-year-old boy with short stature presents with fasting hypoglycemia (45 mg/dL), hepatomegaly, and a bleeding diathesis. Vital signs show BP 95/60, HR 102, RR 18, temp 37°C, SpO
A 5-year-old boy presents with temporary muscle weakness and cramping after exercise. Vital signs show HR 98/min, BP 105/68 mmHg, RR 20/min, and normal temperature. Serum creatine
A 57-year-old male with poorly controlled type 1 diabetes presents with progressive vision loss. Vitals: BP 148/92 mmHg, HR 88/min, RR 16/min, Temp 37.2°C. Ophthalmoscopic examinat
A 28-year-old white female and her 25-year-old white male partner present for genetic counseling. Both have one sibling with cystic fibrosis confirmed by sweat chloride testing (98
A 28-year-old woman delivers an infant with hypotonia, upslanting palpebral fissures, and a single palmar crease. Vital signs show HR 120/min, RR 28/min, and mild hypothermia at 36
A 45-year-old kidney transplant recipient on tacrolimus and mycophenolate presents with fever (38.9°C), malaise, and floaters with hemorrhagic retinitis on fundoscopy. Labs show le
A 3-year-old boy presents with hyperphagia, rapid weight gain despite normal appetite regulation attempts, hypotonia, and small hands and feet. He has moderate developmental delay
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