Publications by authors named "M-P Debray"
The main monogenic causes of pulmonary fibrosis in adults are mutations in telomere-related genes. These mutations may be associated with extrapulmonary signs (hepatic, haematological and dermatological) and typically present radiologically as usual interstitial pneumonia or unclassifiable fibrosis. In children, the monogenic causes of pulmonary fibrosis are dominated by mutations in surfactant-related genes.
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- Interstitial lung disease (ILD) is a common complication in primary Sjögren's disease (pSD), but its long-term impact on lung function and patient outcomes is not well understood.
- A study of 73 pSD-ILD patients over an average of 9.3 years found that while lung function was generally stable, a significant portion experienced declines, particularly those with specific health characteristics.
- Key findings include two groups with different lung function trajectories: one with stable lung function and one with a decline of approximately 2.4% per year, where the latter group faced higher risks of death or needing a lung transplant.
Background: Several rare surfactant-related gene (SRG) variants associated with interstitial lung disease are suspected to be associated with lung cancer, but data are missing. We aimed to study the epidemiology and phenotype of lung cancer in an international cohort of SRG variant carriers.
Methods: We conducted a cross-sectional study of all adults with SRG variants in the OrphaLung network and compared lung cancer risk with telomere-related gene (TRG) variant carriers.
Intro: An increased prevalence of serum anti-MCV antibody is observed in the serum of patients with idiopathic pulmonary fibrosis (IPF) but the clinical relevance of these antibodies is unknown.
Methods: Patients from our center with a diagnosis of IPF according to the 2018 ATS/ERS/JRS/ALAT guidelines and at least one anti-MCV assay available were selected. All patients were part of the prospective cohort European IPF registry and selected between 03/2010 and 03/2018.
Background: Standard of care for interstitial lung disease (ILD) with a nonspecific interstitial pneumonia (NSIP) pattern proposes mycophenolate mofetil (MMF) as one of the first-step therapies while rituximab is used as rescue therapy.
Methods: In a randomised, double-blind, two-parallel group, placebo-controlled trial (NCT02990286), patients with connective tissue disease-associated ILD or idiopathic interstitial pneumonia (with or without autoimmune features) and a NSIP pattern (defined on NSIP pathological pattern or on integration of clinicobiological data and a NSIP-like high-resolution computed tomography pattern) were randomly assigned in a 1:1 ratio to receive rituximab (1000 mg) or placebo on day 1 and day 15 in addition to MMF (2 g daily) for 6 months. The primary end-point was the change in percent predicted forced vital capacity (FVC) from baseline to 6 months analysed by a linear mixed model for repeated measures analysis.
Background: Computed tomography (CT) screening has improved lung cancer survival, yet increasingly detects small lung lesions. Thus, the number of transthoracic lung biopsies (TTLB) for small nodules is expected to rise significantly. The aim of the present study was to evaluate the diagnostic accuracy and safety of CT-guided TTLB for nodules ≤20 mm nodules >20 mm.
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- * Conducted across 20 French university hospitals, it analyzed data from over 10,700 patients who had both CT scans and RT-PCR tests, resulting in significant findings about sensitivity (80.2%) and specificity (79.7%) of CT.
- * The extent of pneumonia visible on CT scans was identified as the strongest predictor of severe outcomes (like intubation or death) one month post-diagnosis, highlighting its clinical relevance in managing COVID-19 patients.
Introduction: Interstitial lung diseases (ILDs) can be caused by mutations in the and genes, which encode the surfactant protein (SP) complex SP-A. Only 11 or mutations have so far been reported worldwide, of which five have been functionally assessed. In the framework of ILD molecular diagnosis, we identified 14 independent patients with pathogenic or mutations.
View Article and Find Full Text PDFQuestion Addressed By The Study: Methotrexate (MTX) is a key anchor drug for rheumatoid arthritis (RA) management. Fibrotic interstitial lung disease (ILD) is a common complication of RA. Whether MTX exposure increases the risk of ILD in patients with RA is disputed.
View Article and Find Full Text PDFRegulator of telomere length 1 () mutations have been evidenced in 5-9% of familial pulmonary fibrosis; however, the phenotype of patients with interstitial lung disease (ILD) and mutations is poorly understood.Whole exome sequencing was performed in 252 probands with ILD and we included all patients with ILD and mutation. expression was evaluated by immunochemistry in the lungs of controls, as well as in and telomerase reverse transcriptase () mutation carriers.
View Article and Find Full Text PDFBackground: Given the phenotypic similarities between rheumatoid arthritis (RA)-associated interstitial lung disease (ILD) (hereafter, RA-ILD) and idiopathic pulmonary fibrosis, we hypothesized that the strongest risk factor for the development of idiopathic pulmonary fibrosis, the gain-of-function MUC5B promoter variant rs35705950, would also contribute to the risk of ILD among patients with RA.
Methods: Using a discovery population and multiple validation populations, we tested the association of the MUC5B promoter variant rs35705950 in 620 patients with RA-ILD, 614 patients with RA without ILD, and 5448 unaffected controls.
Results: Analysis of the discovery population revealed an association of the minor allele of the MUC5B promoter variant with RA-ILD when patients with RA-ILD were compared with unaffected controls (adjusted odds ratio, 3.