Search results for "Respiratory system"
showing 10 items of 1829 documents
Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis
2020
BackgroundPulmonary alveolar microlithiasis (PAM) is caused by genetic variants in the SLC34A2 gene, which encodes the sodium-dependent phosphate transport protein 2B (NaPi-2b). PAM is characterised by deposition of calcium phosphate concretions (microliths) in the alveoli leading to pulmonary dysfunction. The variant spectrum of SLC34A2 has not been well investigated and it is not yet known whether a genotype–phenotype correlation exists.MethodsWe collected DNA from 14 patients with PAM and four relatives, and analysed the coding regions of SLC34A2 by direct DNA sequencing. To determine the phenotype characteristics, clinical data were collected and a severity score was created for each va…
2018
Background The expression and localization of transforming growth factor-β (TGF-β) pathway proteins in different compartments of the lower airways of patients with stable COPD is unclear. We aimed to determine TGF-β pathway protein expression in patients with stable COPD. Methods The expression and localization of TGF-β pathway components was measured in the bronchial mucosa and peripheral lungs of patients with stable COPD (n = 44), control smokers with normal lung function (n = 24), and control nonsmoking subjects (n = 11) using immunohistochemical analysis. Results TGF-β1, TGF-β3, and connective tissue growth factor expression were significantly decreased in the bronchiolar epithelium, w…
Familial pulmonary arterial hypertension by KDR heterozygous loss of function
2020
Beyond the major gene BMPR2, several new genes predisposing to PAH have been identified during the last decade. Recently, preliminary evidence of the involvement of the KDR gene was found in a large genetic association study.We prospectively analysed the KDR gene by targeted panel sequencing in a series of 311 PAH patients referred to a clinical molecular laboratory for genetic diagnosis of PAH.Two index cases with severe PAH from two different families were found to carry a loss-of-function mutation in the KDR gene. These two index cases were clinically characterised by low diffusing capacity for carbon monoxide adjusted for haemoglobin (DLCOc) and interstitial lung disease. In one family,…
Heat shock protein: a hot topic in idiopathic pulmonary fibrosis
2017
HSP90 inhibition could be an exciting new treatment strategy for IPF http://ow.ly/HfKY306uvxw
Heat shock protein-90 toward theranostics: a breath of fresh air in idiopathic pulmonary fibrosis.
2017
Heat shock proteins are potential biomarkers and therapeutic targets in idiopathic pulmonary fibrosis http://ow.ly/fHVP30hJUOl
P285 The ‘real-life’ copd patient in the age of laba/lamas: an expansion of the daccord study
2016
Introduction The prospective, non-interventional DACCORD study collects data from a representative cohort of COPD out-patients across Germany who either initiated or changed COPD maintenance medication prior to entry. Initially, DACCORD consisted of two treatment groups (Glycopyrronium-based therapy vs. any other COPD maintenance medication with the exception of Glycopyrronium). Following the approval of LABA/LAMA fixed-dose combinations (FDC) in 2013, DACCORD was extended to follow an additional cohort of patients receiving any LABA/LAMA FDC over a period of 2 years. Methods 5223 patients with complete baseline data (3815 LAMA/LABA FDC vs. 1408 standard treatment group) were analysed here.…
Bacterial-viral load and the immune response in stable and exacerbated COPD: significance and therapeutic prospects.
2016
Silvestro Ennio D’Anna,1 Bruno Balbi,2 Francesco Cappello,3,4 Mauro Carone,2 Antonino Di Stefano21Department of Rehabilitation, Cardiorespiratory Unit, Fondazione Istituto G. Giglio di Cefalù, 2Pneumology Unit and Laboratory of Cytoimmunopathology of Heart and Lung, Fondazione Salvatore Maugeri, IRCCS, Veruno (NO) and Cassano delle Murge (BA), 3Human Anatomy Section, Department of Experimental Biomedicine and Clinical Neuroscience, University of Palermo, Palermo, Italy; 4Euro-Mediterranean Institute of Science and Technology, Palermo, ItalyAbstract: Chronic obstructive pulmonary disease (COPD) is characterized by persistent airflow limitation and an abnormal inflammatory respon…
Staphylococcus aureusand its IgE-inducing enterotoxins in asthma: current knowledge
2020
While immunoglobulin (Ig) E is a prominent biomarker for early-onset, its levels are often elevated in non-allergic late-onset asthma. However, the pattern of IgE expression in the latter is mostly polyclonal, with specific IgEs low or below detection level albeit with an increased total IgE. In late-onset severe asthma patients, specific IgE to Staphylococcal enterotoxins (se-IgE) can frequently be detected in serum, and has been associated with asthma, with severe asthma defined by hospitalisations, oral steroid use and decrease in lung function. Recently,se-IgE was demonstrated to even predict the development into severe asthma with exacerbations over the next decade.Staphylococcus aureu…
Morphomolecular motifs of pulmonary neoangiogenesis in interstitial lung diseases
2019
The pathogenetic role of angiogenesis in interstitial lung diseases (ILDs) is controversial. This study represents the first investigation of the spatial complexity and molecular motifs of microvascular architecture in important subsets of human ILD. The aim of our study was to identify specific variants of neoangiogenesis in three common pulmonary injury patterns in human ILD.We performed comprehensive and compartment-specific analysis of 24 human lung explants with usual intersitial pneumonia (UIP), nonspecific interstitial pneumonia (NSIP) and alveolar fibroelastosis (AFE) using histopathology, microvascular corrosion casting, micro-comupted tomography based volumetry and gene expression…