Chest
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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.
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A drug-induced sarcoidosis-like reaction (DISR) is a systemic granulomatous reaction that is indistinguishable from sarcoidosis and occurs in a temporal relationship with initiation of an offending drug. DISRs typically improve or resolve after withdrawal of the offending drug. Four common categories of drugs that have been associated with the development of a DISR are immune checkpoint inhibitors, highly active antiretroviral therapy, interferons, and tumor necrosis factor-α antagonists. ⋯ However, the offending drug need not be discontinued if it is useful, and antigranulomatous therapy can be added. In some situations, the development of a DISR may suggest a beneficial effect of the inducing drug. Understanding the mechanisms leading to DISRs may yield important insights into the immunopathogenesis of sarcoidosis.
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Multiple manifestations of sleep disorders may interact with the law, making it important to increase awareness of such interactions among clinicians. Patients with excessive sleepiness may have civil (and in some states criminal) liability if they fall asleep while driving and cause a motor vehicle accident. Employers may be held vicariously liable because of the actions of sleepy employees. ⋯ Sleep telemedicine practice using 21st century technology has opened novel and unique challenges to existing laws. In this review, we cover the most common interactions between sleep disorders and the law, including the challenges of excessive sleepiness and driving, other legal issues involving patients with OSA, and the liabilities associated with parasomnia disorder. We will also cover some practical legal aspects involving independent sleep laboratories and the field of sleep telemedicine.