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Select the ONE answer that is BEST in each case.
The patient whose hands are shown in Fig. is developmentally delayed with a short, stocky build. Which of the following is the most likely diagnosis?
The deformity of the hands is due to short metacarpals. Other deformities include short metatarsals, round facies, and thickening of the calvarium. The syndrome is caused by target organ unresponsiveness to PTH, and was the first hormone resistance syndrome described
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|21. A 61-year-old woman with poorly controlled Type II diabetes is seen in follow-up. Her blood sugars are persistently elevated to levels greater than 200 mg/dL. On examination, she is obese, blood pressure 165/90 mm Hg, pulse 80/min, and there is sensory loss in the feet. Which of the following fasting lipid profiles is most likely to be consistent with her values?
(A) high total cholesterol, low LDL, and normal triglycerides
(B) high total cholesterol, high LDL, low triglycerides
(C) high total cholesterol, normal LDL, high triglycerides
(D) high total cholesterol, low LDL, and low triglycerides
(E) high total cholesterol, high LDL, and high triglycerides
|22. A 26-year-old man is evaluated for back pain and fatigue. He was previously healthy. On examination, he is pale, there is lumber spine tenderness, and an enlarged liver (18 cm). He is pancytopenic, and there is a vertebral fracture on lumbar x-rays. A bone marrow biopsy reveals infiltration with lipid-laden macrophages (Gaucher cells). Which of the following is the most likely diagnosis?
(A) metachromatic leukodystrophy
(B) inherited Gaucher’s disease
(C) acquired Gaucher’s disease
(D) glycogen storage disease
(E) familial hyperchylomicronemia
|23. A 19-year-old man has early fatigue and muscle cramps while playing sports. He is fine when walking or doing light levels of work. On examination, he appears well and the muscle strength in the proximal muscles is normal. There is no muscle fatigue with repetitive arm grip exercises. After an exercise stress test, his serum creatine kinase (CK) is elevated and lactate level is normal. Which of the following is the most likely diagnosis?
(A) Gaucher’s disease
(B) Tay-Sachs disease
(C) McArdle’s disease (glycogen storage disease)
(E) myasthenia gravis
|24. A 33-year-old man develops severe left flank pain that radiates to the front inguinal region. The pain eventually subsides after the passage of “sand-like” urine. A urinalysis reveals flat hexagonal plate like crystals (cystine). Which of the following statements about this condition is most likely true?
(A) commonest cause of renal stones
(B) stones are radiolucent on x-ray
(C) increased cystine concentration in the urine
(D) decreased cystine concentration in the urine
(E) acquired disorder of cystine metabolism
|25. A 50-year-old man presents with feeling tired and unsteady on his feet. He has a poor appetite and has lost 10 lb. On examination, he appears cachectic, his heart and lungs are normal, but his liver span is 18 cm. His lab tests show a very low magnesium level (0.7 mEq/L). On further questioning, he reports drinking heavily since losing his job. Which of the following is the most likely explanation for his low magnesium level?
(B) chronic malabsorption
(E) hypervitaminosis E
|26. A 27-year-old woman presents with feeling unwell ever since going on a high vitamin diet. She has dry skin, vomiting, headaches, and amenorrhea. Her examination and lab data are positive for hepatomegaly, splenomegaly, leukopenia, anemia, periosteal changes, sparse and coarse hair, and increased serum lipids. Which of the following is the most likely diagnosis?
(A) vitamin D intoxication
(B) vitamin D deficiency
(C) vitamin A deficiency
(D) vitamin A intoxication
|27. The patient whose hands are shown in Fig. 3–4 is developmentally delayed with a short, stocky build. Which of the following is the most likely diagnosis?
(A) achondroplastic dwarf
(B) Down syndrome
(C) Klinefelter’s syndrome
(E) Turner’s syndrome
|28. Which of the following laboratory values is consistent with the patient shown in Fig. 3–4?
(A) hypercalcemia, hypophosphatemia
(B) hypocalcemia, low PTH
(C) hypocalcemia, high PTH
|29. A 25-year-old man requests cholesterol screening because of a family history of premature coronary artery disease (CAD). His lipid levels reveal an elevated total and LDL cholesterol. The high-density lipoprotein (HDL) and triglyceride values are normal. His physical examination is completely normal. Which of the following is the most common cause of genetic dyslipidemia?
(A) familial combined hyperlipidemia
(B) familial hypercholesterolemia
(C) familial defective Apo B
(D) Apo C-II deficiency
(E) lipoprotein lipase deficiency
|30. A 28-year-old woman with diabetes presents with lesions on her leg. They are not painful,
and have a central depression and raised irregular margin. They are shown in Fig. 3–5. Which of the following is the most likely diagnosis?
(A) eruptive xanthomas
(B) necrobiosis lipoidica diabeticorum
(D) staphylococcal infection
(E) erythema nodosum
|31. A 54-year-old man comes to the emergency room with severe pain in his right toe. He has had less severe episodes in the past, which he always treated with pain medications. The toe is red, inflamed, and exquisitely sensitive to movement. Needle aspiration of the toe confirms uric acid crystals, and he is treated with oral indomethacin (NSAID). One month later, he remains symptom free, and allopurinol is recommended for prevention of this condition. Which of the following is the most likely mechanism of action of allopurinol?
(A) inhibition of xanthine oxidase
(B) solubilization of uric acid
(C) reactivity with hypoxanthine
(D) anti-inflammatory effect on joint tissue
(E) increased renal tubular secretion of uric acid
|32. A 53-year-old woman with chronic renal failure develops hyperphosphatemia and hypocalcemia. Which of the following findings is most likely associated with this electrolyte disturbance?
(B) neuromuscular irritability
|33. A 22-year-old man has features of arm span greater than height, subluxed lenses, flattened corneas, and dilation of the aortic ring. Which of the following is the most likely diagnosis?
(A) Ehlers-Danlos syndrome
(B) Marfan syndrome
(C) Werner’s syndrome
(D) Laurence-Moon-Biedl syndrome
(E) Hunter’s syndrome
|34. A 33-year-old man is complaining of feeling thirsty all the time and passing more urine than usual. His physical examination is normal, except for a JVP at the sternal angle. His serum sodium is 150 mEq/L, glucose 120 mg/dL, and osmolality 315 mOsm/kg. The urine sodium is 20 mE/L and osmolality 260 mOsm/kg. Which of the following drugs is most likely to cause this disorder?
|35. Hyperchylomicronemia (SELECT ONE)
(A) palmar plane xanthomas
|36. Hyperbetalipoproteinemia (SELECT ONE)
(A) palmar plane xanthomas
|37. Type III hyperlipoproteinemia (SELECT ONE)
(A) palmar plane xanthomas
|38. Hyperprebetalipoproteinemia (SELECT ONE)
|39. Hypertriglyceridemia (SELECT ONE)
|40. A 20-year-old woman is complaining of passing large amounts of urine. She is otherwise well and her physical examination is normal. The serum sodium is 140 mEq/L and the urinalysis is negative for protein and glucose. The urine sodium is 33 mEq/L, and urine osmolality is 268 mOsm/kg. She weighs 60 kg, and her 24-hour urine output is over 4 l. Which of the following is the most likely diagnosis?
(A) diabetes mellitus (DM)
(B) psychogenic polydipsia
(C) diabetes insipidus (DI)
(D) contracted bladder
(E) solute diureses