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"apple core" lesion - Colorectal carcinoma 42-year-old female complains of weight gain (especially in her abdomen) over the past 8 months. She also has noted that her skin bruises easily. Her husband has noted she seems to be very moody lately and she is worried about their relationship. Furthermore, her hair seems to be getting thinner and she is now getting acne like she had in her teenage years. She wonders if this is due to menopause since her periods have stopped suddenly about a year ago. On physical examination her BP = 170/50, P = 82, T = 98.2°F. You note the following findings on examination (see picture) purple straiae). What diagnostic test is indicated initially to confirm your suspected diagnosis? A. cosyntropin stimulation test B. MRI pituitary C. dexamethasone suppression test D. 24-hour urine for protein E. serum protein electrophoresis - The answer is C. EXPLANATION: The correct answer is (C). The patient's symptoms are consistent with a diagnosis of Cushing's syndrome (or disease). Her physical examination findings of hypertension and abdominal obesity with the classic purple striae also support the diagnosis. The initial diagnostic test of choice would be the dexamethasone suppression test. If the test is positive, further confirmatory testing is done which would also help to identify the cause. An MRI of the pituitary is appropriate if further testing suggests the possibility of a pituitary adenoma as the cause of the Cushing's syndrome, but is not used as an initial diagnostic test for Cushing's disease. A cosyntropin stimulation test, choice (A), is indicated for the diagnosis of Addison's disease. 54-year-old man with a history of chronic alcohol abuse presents to the emergency department with complaints of a subjective fever and severe epigastric pain radiating to the back. The pain has been present for the past 8 hours and is associated with nausea and vomiting, which has not relieved the pain. Laboratory data reveal a WBC of 14,000/mm3 and a serum amylase of 500 U/L (reference range 0-286 U/L). Plain films of the abdomen were unremarkable. Which of the following is the most likely diagnosis? - Acute pancreatitis typically presents with severe, steady midepigastric abdominal pain that radiates through to the back; pain is associated with fever, nausea, and vomiting. The most common causes of acute pancreatitis are gallstones and alcohol. Laboratory studies will show elevated WBC and serum amylase levels. Amylase elevations are nonspecific and can be elevated with perforated ulcers and mesenteric ischemia.A 1 day-old boy develops progressing abdominal distension, bilious vomiting and failure to pass a meconium stool. Abdominal radiographs show dilated loops of small bowel. Which of the following genetic mutations should the patient be evaluated for? A. ΔF508 B. G551D C. Q1412X D. R117H E. W1282X - The answer is B. EXPLANATION: Mutations in CFTR protein function resulting from genotype G551D mutations are amenable to treatment with ivacaftor (B). Approximately 5% of CF patients have the G551D mutation and all patients should be assessed for potential ivacaftor therapy. ΔF508 (A)is the most common genotype occurring in 60-66% of all CF patients and is not amenable to ivacaftor therapy. A 1 day-old boy develops progressing abdominal distension, bilious vomiting and failure to pass a meconium stool. Abdominal radiographs show dilated loops of small bowel. Which of the following is the most likely diagnosis in this patient? A. Cystic Fibrosis B. Hypothyroidism C. Imperforate anus - The patient presents with a meconium ileus consistent with a diagnosis of cystic fibrosis A 1-day-old infant being examined in the newborn nursery is noted to have a central, 4 mm cataract affecting his right eye. Which of the following diagnostic studies should be performed as a result of this finding? A. Fasting blood glucose B. MRI of the eye and orbit C. Rapid plasma reagin (RPR) D. Serum cortisol level E. Serum thyroid stimulating hormone level - The answer is C.
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