American journal of respiratory and critical care medicine
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Am. J. Respir. Crit. Care Med. · Jul 2017
Extreme Trait Whole Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction.
Genetic association studies in chronic obstructive pulmonary disease have primarily tested for association with common variants, the results of which explain only a portion of disease heritability. Because rare variation is also likely to contribute to susceptibility, we used whole-genome sequencing of subjects with clinically extreme phenotypes to identify genomic regions enriched for rare variation contributing to chronic obstructive pulmonary disease susceptibility. ⋯ PTPRO is a novel candidate gene in emphysema with severe airflow obstruction, and rs61754411 is a previously unreported rare variant contributing to emphysema susceptibility. Other suggestive candidate genes, such as ZNF816, are of interest for future studies.
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Am. J. Respir. Crit. Care Med. · Jul 2017
Magnetic Resonance Imaging in the Prognostic Evaluation of Patients with Pulmonary Arterial Hypertension.
Prognostication is important when counseling patients and defining treatment strategies in pulmonary arterial hypertension (PAH). ⋯ MRI measurements reflecting right ventricular structure and stiffness of the proximal pulmonary vasculature are independent predictors of outcome in PAH. In combination with clinical data MRI has moderate prognostic accuracy in the evaluation of patients with PAH.
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Am. J. Respir. Crit. Care Med. · Jul 2017
Observational StudyPhysical Activity in Pediatric Pulmonary Arterial Hypertension Measured by Accelerometry: A Candidate Clinical Endpoint.
The development of evidence-based treatment guidelines for pediatric pulmonary arterial hypertension (PAH) is hampered by lack of pediatric clinical trials. Trial design is hampered by lack of a feasible clinical endpoint in this population. ⋯ PA is markedly decreased in children with PAH. Accelerometer output correlated with clinical disease severity markers and may predict outcome. We showed an exciting potential of PA as a meaningful endpoint for clinical trials in pediatric PAH, although its clinical utility and prognostic value need to be further validated.
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Am. J. Respir. Crit. Care Med. · Jul 2017
Microbes Associate with Host Innate Immune Response in Idiopathic Pulmonary Fibrosis.
Differences in the lung microbial community influence idiopathic pulmonary fibrosis (IPF) progression. Whether the lung microbiome influences IPF host defense remains unknown. ⋯ These findings suggest that host-microbiome interactions influence PFS and fibroblast responsiveness.