American journal of respiratory and critical care medicine
-
Am. J. Respir. Crit. Care Med. · Jul 2017
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung disease of unknown etiology. ⋯ We identified TERT, RTEL1, and PARN-three telomere-related genes previously implicated in familial pulmonary fibrosis-as significant contributors to sporadic IPF. These results support the idea that telomere dysfunction is involved in IPF pathogenesis.
-
Am. J. Respir. Crit. Care Med. · Jul 2017
Chronic Obstructive Pulmonary Disease Readmissions and Other Measures of Hospital Quality.
The Centers for Medicare and Medicaid Services recently implemented financial penalties to reduce hospital readmissions for select conditions, including chronic obstructive pulmonary disease (COPD). Despite growing pressure to reduce COPD readmissions, it is unclear how COPD readmission rates are related to other measures of quality, which could inform efforts on common organizational factors that affect high-quality care. ⋯ These findings suggest there may be common organizational factors that influence multiple disease-specific outcomes. As pay-for-performance programs focus attention on individual disease outcomes, hospitals may benefit from in-depth assessments of organizational factors that affect multiple aspects of hospital quality.
-
Am. J. Respir. Crit. Care Med. · Jul 2017
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists of assessing ciliary function by high-speed microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available internationally. The identification of biallelic disease-causing mutations is also diagnostic, but many disease-causing genes are unknown, and testing is not widely available outside the United States. Fluorescent antibodies to ciliary proteins are used to validate research genetic studies, but diagnostic utility in this disease has not been systematically evaluated. ⋯ Immunofluorescence is a highly specific diagnostic test for PCD, and it improves the speed and availability of diagnostic testing. However, sensitivity is limited and immunofluorescence is not suitable as a stand-alone test.