Article in Respirology (Carlton, Vic.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registry
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
31 authors.
Giovanni FrancoUniversité Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France.ORCID 0000-0003-2873-5896
Nadia NathanAP-HP, Sorbonne Université, Pediatric Pulmonology Department and Reference Center for Rare Lung Disease RespiRare, Armand Trousseau Hospital, Paris, France.ORCID 0000-0001-5149-7975
Cécile GuerinUniversité Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France.
Albane LassusUniversité Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France.
Caroline KannengiesserAP-HP Service de Génétique, Hôpital Bichat, Paris, France.ORCID 0000-0003-2155-9383
Antoine FroidurePulmonology Department, Cliniques Universitaires Saint-Luc and Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium.ORCID 0000-0001-7133-1788
Effrosyni Manali2nd Pulmonary Department, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.ORCID 0000-0002-1731-7069
Vincent BunelService de Pneumologie B et Transplantation Pulmonaire, Hôpital Bichat, APHP, Inserm U1152, Université de Paris, Paris, France.ORCID 0000-0002-5080-6331
Philippe BonniaudCentre de Référence Constitutif des Maladies Pulmonaires Rares de l'Adulte, Service de Pneumologie et Soins Intensifs Respiratoires, Centre Hospitalo-Universitaire de Dijon-Bourgogne, Inserm 1231 CTM, Dijon, France.ORCID 0000-0002-3670-5622
Diane BouvryDepartment of Pneumology, Centre Constitutif de Référence des Maladies Pulmonaires Rares, AP-HP, Hôpital Avicenne, Bobigny, Unité mixte de recherche 1272 'Hypoxia and the Lung', Institut national de la santé et de la recherche médicale (INSERM), Université Sorbonne Paris Nord, Bobigny, France.ORCID 0000-0002-0557-5175
Marie Pierre DebrayAPHP, Service de Radiologie, Hôpital Bichat, Paris, France.ORCID 0000-0003-2109-5662
Aurélie PlessierService d'Hépatologie, AP-HP, Hôpital Beaujon, DMU DIGEST, Centre de Référence des Maladies Vasculaires du Foie, FILFOIE, ERN RARE-LIVER, Clichy, France.ORCID 0000-0001-5656-1622
Flore Sicre de FontbruneHematology Transplant Unit, French National Reference Center for Aplastic Anemia, Hopital Saint Louis, APHP, Paris, France.ORCID 0000-0003-2000-1556
Lidwine Wémeau-StervinouCHU Lille, Service de Pneumologie et Immuno-Allergologie, Centre de Référence des Maladies Pulmonaires Rares (Site Constitutif), Lille, France.ORCID 0000-0003-4962-6680
Sylvain Marchand AdamService de Pneumologie et d'explorations Fonctionnelles Respiratoires, CHRU de Tours, Tours, France.ORCID 0000-0002-9522-3738
Alexandre ChabrolService de Pneumologie, Hôpital Foch, Suresnes, Paris, France.
Arnaud MauracDépartement de Pneumologie, Hôpital Haut Lévèque, CHU de Bordeaux, Pessac, France.ORCID 0000-0003-0390-266X
Laurent SavaleUniversité Paris-Saclay, AP-HP, Service de Pneumologie et Soins Intensifs Respiratoires, Hôpital de Bicêtre, DMU 5 Thorinno, Inserm UMR_S999, Le Kremlin-Bicêtre, France.ORCID 0000-0002-6862-8975
David MontaniUniversité Paris-Saclay, AP-HP, Service de Pneumologie et Soins Intensifs Respiratoires, Hôpital de Bicêtre, DMU 5 Thorinno, Inserm UMR_S999, Le Kremlin-Bicêtre, France.ORCID 0000-0002-9358-6922
Caroline RaynalLaboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire et Université de Montpellier, Montpellier, France.ORCID 0000-0002-1070-0583
Marina KonyukhDepartment of Genetics, Henri Mondor University Hospital, APHP, Univ Paris Est Creteil, INSERM, IMRB, Créteil, France.
Arthur MageauCentre de référence des cytopénies Auto-Immunes de l'adulte, Service de Médecine Interne, Hôpital Henri Mondor, APHP, UPEC, Créteil, France.ORCID 0000-0002-2995-767X
Bruno CrestaniUniversité Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France.ORCID 0000-0002-2961-3455
Vincent CottinCoordinating Reference Center for Rare Pulmonary Diseases, Louis Pradel Hospital, University of Lyon, INRAE, UMR754, ERN-LUNG, Lyon, France.ORCID 0000-0002-5591-0955
Alix de BecdelièvreDepartment of Genetics, Henri Mondor University Hospital, APHP, Univ Paris Est Creteil, INSERM, IMRB, Créteil, France.ORCID 0000-0002-0488-3475
Raphaël BorieUniversité Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France.ORCID 0000-0002-9906-0024
Respifil and OrphaLung
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
BACKGROUND AND
objectiveApproximately 30% of individuals diagnosed with familial pulmonary fibrosis (FPF) exhibit a pathogenic variant upon genetic analysis. We established a genetic Multidisciplinary Discussion (geneMDD) aimed to enhance expertise in diagnosing and managing FPF. This study aimed at prospectively evaluating the impact of geneMDD on diagnosis and treatment in patients referred to geneMDD.
methodsIn this prospective study, we enrolled all consecutive patients referred to the geneMDD. At each meeting, the impact of the meeting was questioned on the genetic conclusion, the pulmonary diagnosis, and the treatment.
resultsA total of 115 patients were included. Before geneMDD, rare variants were detected in 82 out of 107 patients, among which 65 variants were classified as pathogenic/likely pathogenic. Following geneMDD, 2 pathogenic variants (3%) were reclassified as variants of uncertain significance (VUS) (n = 1) or benign (n = 1). Among the 17 variants initially classified as VUS, 2 (11.8%) were reclassified as likely pathogenic/pathogenic. The pulmonary diagnosis was confirmed for all patients (unclassifiable lung fibrosis was the more frequent diagnosis, n = 38, 33.0%). The therapeutic regimen was changed after geneMDD in 30 patients. Factors associated with therapeutic changes included the pulmonary diagnosis and presence of a pathogenic/likely pathogenic variant. In addition, the French health system allows offering whole genome sequencing (WGS) in patients with a first negative genetic analysis by NGS panel after discussion in geneMDD, but in total, since September 1st, 2021, WGS was negative for the four analysed families.
conclusionThis study suggests that geneMDD could influence the treatment of FPF patients.
Indexed as
Genetic TestingIdiopathic Pulmonary FibrosisInterdisciplinary CommunicationPatient Care TeamPulmonary FibrosisAdultAgedFemaleHumansMaleMiddle AgedProspective Studiesgenetic disorderinterstitial pulmonary fibrosismultidisciplinary discussionsurfactant related genestelomerase related genes
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis. · full record | OpenQuestion