Respiration; international review of thoracic diseases
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Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder reflecting abnormalities in the structure and function of motile cilia and flagella, causing impairment of mucociliary clearance, left-right body asymmetry, and sperm motility. Clinical manifestations include respiratory distress in term neonates, recurrent otosinopulmonary infections, bronchiectasis, situs inversus and/or heterotaxy, and male infertility. Genetic discoveries are emerging from family-based linkage studies and from testing candidate genes. ⋯ If only one mutation is identified, the full gene may be sequenced to search for a trans-allelic mutation. As more disease-causing gene mutations are identified, broader genetic screening panels will further identify patients with PCD. Ongoing investigations are beginning to identify genetic mutations in novel clinical phenotypes for PCD, such as congenital heart disease and male infertility, and new associations are being established between 'ciliary' genetic mutations and clinical phenotypes.
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Continuous positive airway pressure (CPAP) is considered as the standard therapy for obstructive sleep apnea syndrome (OSAS), but some patients with OSAS are unable to accept CPAP due to nasal obstruction and poor nasal airflow. ⋯ Nasal resistance before the beginning of CPAP treatment has a significant effect on the acceptance of CPAP in OSAS patients, and hence, could be a predictive parameter for the initial acceptance of CPAP.
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The availability of high-throughput genotyping and large collaborative clinical networks creating well-characterized patient populations with DNA repositories has facilitated genome-wide scans and candidate gene studies to identify susceptibility alleles for the development of interstitial lung disease. The association of pulmonary fibrosis with rare inherited disorders, and the variable susceptibility of inbred mouse strains to this disease indicate that pulmonary fibrosis is determined by genetic factors. Sarcoidosis represents a complex disease with racial and ethnic differences in disease prevalence, and evidence of familial clustering. ⋯ Candidate gene studies indicate that surfactant protein C and telomerase are susceptibility genes for the development of pulmonary fibrosis. Future challenges include determining how multiple susceptibility alleles interact with each other and environmental factors resulting in disease risk and multiple phenotypes, and determining the mechanism of action and cellular pathways involving susceptibility alleles. Further insight into these areas may lead to new therapeutic interventions.
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Endobronchial tuberculosis (EBTB) has been shown to frequently complicate bronchial stenosis, a condition which can induce dyspnea as a result of airway obstruction, and is also frequently misdiagnosed as either bronchial asthma or lung cancer. ⋯ Elevated IFN-gamma and TGF-beta levels in the BWF of the EBTB patients may be related to EBTB pathogenesis. Lowered initial serum TGF-beta levels as well as the observed changes in the levels of TGF-beta in the serum after treatment have been implicated in bronchial fibrostenosis during the course of the disease.
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Comparative Study
Nitric oxide and exhaled breath nitrite/nitrates in chronic obstructive pulmonary disease patients.
Measurement of nitric oxide (NO) and nitrite/nitrates (NOx) levels in exhaled breath condensate (EBC) are non-invasive techniques, which can be used to monitor airway inflammatory diseases. Production of NO is often increased in inflammatory diseases of the airways, including exacerbations of chronic obstructive pulmonary disease (COPD). COPD-associated airway inflammation may be affected by multiple factors, including cigarette smoking and glucocorticosteroid (GCS) treatment. ⋯ COPD patients have higher exhaled NO levels than control subjects when either combined or analysed as non-smoking, ex-smoking and smoking subgroups. GCS treatment did not appear to affect these non-invasive markers of airway inflammation in COPD.