J.P., a 30-year-old man, was well until 18 days ago when he experienced crampy right lower quadrant.

If a change is present what kind of mutation will it induce i.e. silent missense frameshift or nonsense mutation? (Check the genetic code on page 79 of your text to answer this question.)
September 16, 2020
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September 16, 2020

J.P., a 30-year-old man, was well until 18 days ago when he experienced crampy right lower quadrant.

J.P., a 30-year-old man, was well until 18 days ago when he experienced crampy right lower quadrant abdominal pain associated with an increased frequency of semiformed stools (four to five per day). The pain was episodic at first, exacerbated by meals, and somewhat relieved by defecation. During this time, J.P. experienced anorexia and a 10-pound weight loss. He denied any change in vision, joint pain, or the appearance of skin rashes. He has not traveled outside the United States or taken antibiotics recently. Physical examination is essentially normal, except for soft, loose, watery stools that are streaked with fat and positive for occult blood. The abdomen is tender on palpation of the right lower quadrant. Vital signs include a temperature of 37.8?C, pulse of 100 beats/minute, and blood pressure of 135/75 mm Hg. He is 180 cm and weighs 80 kg. Pertinent laboratory values include the following: Hct, 28% Hgb, 9 g/dL WBC count, 14.0 × 109/L ESR, 60 mm/hour Results of sigmoidoscopy and rectal biopsy are negative. Stool cultures and toxin studies for C. difficile are negative, as is the examination for signs of trophozoites. A barium enema shows an edematous ileocecal valve and a terminal ileum that has a nodular irregularity of the mucosa. Followup colonoscopy reveals a cobblestone-appearing terminal ileum with areas of normal tissue separated by diseased mucosa. Which of J.P.’s signs, symptoms, and laboratory data are consistent with CD? Describe the pathophysiological basis for J.P.’s clinical presentation.

 

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