Chest
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Germline mutations in the gene encoding TERT cause haploinsufficiency with subsequent telomere shortening. TERT mutations are associated with short telomere syndromes, such as pulmonary fibrosis (PF), which is often the first manifestation of a short telomere syndrome. Telomere length is heritable, and progeny of telomerase mutation carriers are known to have shorter telomeres. In families with TERT mutations, genetic anticipation, the earlier onset of symptoms with successive generation, is described. Little is known on the number of generations that may pass before disease occurs in families with a TERT mutation. ⋯ The TERT c.2005T mutation is a pathogenic mutation and associates with PF. This study learns that a latency period of > 300 years may pass before the cumulative effect of telomere shortening eventually leads to PF. This finding underlines the complexity of the clinical interpretation of TERT mutations because, not the presence of the mutation, but the result of genetic anticipation, is associated with disease. Therefore, multidisciplinary discussion between pulmonary physicians, clinical geneticists, and genetic laboratory experts is recommended.
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OSA is found commonly in the elderly population (≥65 years old), and CPAP improves sleepiness and health-related quality of life (HRQoL) in the middle-aged population; however, data about its efficacy in elderly patients are unclear. The purpose of this study was to evaluate the efficacy of CPAP for sleepiness, HRQoL, mood, and cognition in elderly patients with OSA. ⋯ Although CPAP therapy reportedly results in important clinical differences in sleepiness, HRQoL, and mood and a slight improvement in neurocognitive tests, concerns regarding the RoB and quality of the evidence do not support the benefit in all patients.
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OSA is a highly prevalent sleep disorder, and subjective excessive daytime sleepiness (EDS) is the cardinal symptom for which many individuals seek medical advice. Positive airway pressure (PAP) devices, first-line treatment for OSA, eliminates EDS in most patients. However, a subset of patients suffers from persistent EDS despite adherence to therapy. ⋯ Solriamfetol has undergone randomized controlled trials for treatment of EDS associated with both OSA and narcolepsy, exhibiting robust efficacy. Solriamfetol is renally excreted, with no known drug interactions. Pitolisant, which is nonscheduled, has undergone multiple RCTs in narcolepsy, showing improvement in subjective and objective EDS and one OSA trial showing improvement in subjective EDS.
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The interstitial lung diseases include a variety of disorders, many of which are characterized by fibrotic changes (fILD). Of the fILDs, Idiopathic pulmonary fibrosis is the most common. Pulmonary hypertension (PH) frequently complicates fILD and is associated with impaired functional capability, lower physical activity, and significantly reduced life expectancy. There is no proven treatment for patients with fILD-PH. We report results from the first cohort of a phase 2b/3 trial with pulsed inhaled nitric oxide (iNO) in patients with fILD-PH. ⋯ Treatment with iNO30 demonstrated clinically and statistically significant benefit in MVPA and clinically significant benefit in overall activity. In the OLE, higher doses of iNO were also safe and well tolerated while showing maintenance in activity parameters.
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Although chronic lung disease is a common cause of mortality, little is known about where individuals with chronic lung disease die. ⋯ Home deaths are rising among decedents from chronic lung disease, increasing the need for quality end-of-life care in this setting. Further research should explore the end-of-life needs and preferences of these patients and their caregivers, with particular attention paid to patients with ILD and CF who continue to have high rates of hospital death.