A 4-year-old boy is brought by his parents to his pediatrician’s office. His mother mentions that the child has been producing an increased number of foul stools recently. His mother says that over the past year, he has had 1 or 2 foul-smelling stools per month. Lately, however, the stools are looser, more frequent, and have a distinct odor. Over the past several years, he has been admitted 4 times with episodes of pneumonia. Genetic studies reveal a mutation on a specific chromosome that has led to a 3 base-pair deletion for the amino acid phenylalanine. Which of the following chromosomes is the defective gene responsible for this boy’s clinical condition?
AChromosome 4
BChromosome 7
CChromosome 22
DChromosome 17
EChromosome 15
A 29-year-old man presents for the evaluation of infertility. He has a history of recurrent lower respiratory tract infections, productive cough, abdominal pain, and diarrhea. Physical examination reveals clubbing and bilateral crackles on chest auscultation. Chest X-ray reveals increased pulmonary markings and peripheral bronchi with a ‘tram track’ appearance. Which of the following pathophysiologies is responsible for the patient’s condition?
AFibrosis of the lung parenchyma
BBronchial hypersensitivity
CAbnormal ciliary motion
DGluten hypersensitivity
EDefective chloride transport
A 23-year-old woman is brought to the emergency department 8 hours after the sudden onset of shortness of breath and pleuritic chest pain. She has cystic fibrosis and, during the past year, has had 4 respiratory exacerbations that have required hospitalization. Current medications include an inhaled bronchodilator, an inhaled corticosteroid, inhaled N-acetylcysteine, and azithromycin. The patient appears chronically ill. Her temperature is 37.9°C (100.2°F), pulse is 96/min, respirations are 22/min and labored, and blood pressure is 106/64 mm Hg. Pulse oximetry on 2 L/min of oxygen via nasal cannula shows an oxygen saturation of 96%. Examination shows an increased anteroposterior chest diameter. There is digital clubbing. Chest excursions and tactile fremitus are decreased on the right side. On auscultation of the chest, breath sounds are significantly diminished over the right lung field and diffuse wheezing is heard over the left lung field. Which of the following is the most likely underlying cause of this patient's current symptoms?
AInfection with gram-negative coccobacilli
BInflammation of costal cartilage
CBronchial hyperresponsiveness
DIncreased pulmonary capillary permeability
EApical subpleural cyst
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