Chest
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Renal disease is a well-recognized manifestation of cystic fibrosis (CF) and people with CF are at increased risk of nephrolithiasis. Lithotripsy is the preferred treatment but has occasionally been associated with pulmonary complications. Here we report the case of a person with CF who developed a pneumothorax soon after lithotripsy and discuss the potential mechanism of injury. We hope this case highlights some of the additional considerations clinicians should take into account when managing patients with advanced pulmonary disease in CF.
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Randomized Controlled Trial
CPAP Adherence Predictors in a Randomized Trial of Moderate-to-Severe OSA Enriched With Women and Minorities.
Suboptimal CPAP adherence in OSA clinical trials involving predominantly white men limits interpretability and generalizability. We examined predictors of CPAP adherence in a clinical trial enriched with minorities. ⋯ In this trial with near-even sex distribution and high ethnic minority representation, we identified CPAP assignment, increasing age, and early adherence to be associated with improved adherence in addition to sex-specific and race-specific adherence differences. These results can inform targeted clinical trial adherence optimization strategies.
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Primary ciliary dyskinesia is a rare genetic disease of the motile cilia and is one of a rapidly expanding collection of disorders known as ciliopathies. Patients with primary ciliary dyskinesia have diverse clinical manifestations, including chronic upper and lower respiratory tract disease, left-right laterality defects, and infertility. In recent years, our understanding of the genetics of primary ciliary dyskinesia has rapidly advanced. ⋯ Our knowledge of cilia genetics and the function of the proteins encoded has led to a greater understanding of the clinical manifestations of motile ciliopathies. These advances have changed our approach toward diagnostic testing for primary ciliary dyskinesia. In this review, we will describe how new insights into genetics have allowed us to define the clinical features of primary ciliary dyskinesia, revolutionize diagnostics, and reveal previously unrecognized genotype-phenotype relationships in primary ciliary dyskinesia.