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1. Quelles interventions thérapeutiques pour les patients et les soignants ? Quand ? Comment ?

Author: UCL - SSH/IPSY - Psychological Sciences Research Institute, Zech, Emmanuelle, Présentation orale sur invitation dans le cadre de la journée « Deuil et mucoviscidose » du réseau Mucoviscidose 89-62, organisée par le Centre de Ressources et de Compétences de la Mucoviscidose (CRCM) Adulte de Lille, UCL - SSH/IPSY - Psychological Sciences Research Institute, Zech, Emmanuelle, and Présentation orale sur invitation dans le cadre de la journée « Deuil et mucoviscidose » du réseau Mucoviscidose 89-62, organisée par le Centre de Ressources et de Compétences de la Mucoviscidose (CRCM) Adulte de Lille
Published: 2009

2. Direct evidence for a peroxide intermediate and a reactive enzyme-substrate-dioxygen configuration in a cofactor-free oxidase

Author: Thierry Prangé, Pablo G. Jambrina, Antoine Royant, David von Stetten, Soi Bui, Daniele de Sanctis, Roberto A. Steiner, Nathalie Colloc'h, Edina Rosta, Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], European Synchrotron Radiation Facility (ESRF), Departamento de Química Física [Madrid], Universidad Complutense de Madrid [Madrid] (UCM), Laboratoire de cristallographie et RMN biologiques (LCRB - UMR 8015), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), Centre-Imagerie, Neurosciences, et Application aux Pathologies (CI-NAPS - UMR 6232), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie structurale (IBS - UMR 5075), Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS), Departments of Obstetrics and Gynecology, Physiology and Biophysics, University of Washington [Seattle], Centre de Ressources et de Compétences de la Mucoviscidose ( CRCM ), European Synchrotron Radiation Facility ( ESRF ), Departamento de Química Física, Universidad Complutense de Madrid [Madrid] ( UCM ), Laboratoire de cristallographie et RMN biologiques ( LCRB - UMR 8015 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Centre National de la Recherche Scientifique ( CNRS ), Centre-Imagerie, Neurosciences, et Application aux Pathologies ( CI-NAPS - UMR 6232 ), Université de Caen Normandie ( UNICAEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut de biologie structurale ( IBS - UMR 5075 ), Université Joseph Fourier - Grenoble 1 ( UJF ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Grenoble Alpes ( UGA ), Kings Coll London, Randall Div Cell & Mol Biophys, London SE1 1UL, England, Kings Coll London, Dept Chem, London SE1 1DB, England, Université Paris Descartes - Paris 5 (UPD5)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie structurale (IBS - UMR 5075 ), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales ( ISTCT ), and Normandie Université ( NU ) -Normandie Université ( NU ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Centre National de la Recherche Scientifique ( CNRS )
Subjects: X-RAY-RADIATION-DAMAGE, reaction intermediates, STRUCTURAL-ENZYMOLOGY, [SDV]Life Sciences [q-bio], Reaction intermediate, IN-CRYSTALLO-RAMAN-SPECTROSCOPY, Photochemistry, Peroxide, [ CHIM ] Chemical Sciences, Catalysis, REACTION-INTERMEDIATE, Substrate Specificity, 03 medical and health sciences, chemistry.chemical_compound, Oxidoreductase, DIOXYGEN, [CHIM]Chemical Sciences, Reactivity (chemistry), 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Oxidase test, biology, [ SDV ] Life Sciences [q-bio], Superoxide, 030302 biochemistry & molecular biology, Active site, Substrate (chemistry), structural enzymology, General Chemistry, General Medicine, OXIDASES, Communications, Peroxides, Dioxygen, Enzymatic mechanisms, Oxidases, Reaction intermediates, Structural enzymology, Oxidoreductases, Oxygen, chemistry, oxidases, enzymatic mechanisms, biology.protein, dioxygen
Abstract: International audience; Cofactor-free oxidases and oxygenases promote and control the reactivity of O2 with limited chemical tools at their disposal. Their mechanism of action is not completely understood and structural information is not available for any of the reaction intermediates. Near-atomic resolution crystallography supported by in crystallo Raman spectroscopy and QM/MM calculations showed unambiguously that the archetypical cofactor-free uricase catalyzes uric acid degradation via a C5(S)-(hydro)peroxide intermediate. Low X-ray doses break specifically the intermediate C5-OO(H) bond at 100 K, thus releasing O2 in situ, which is trapped above the substrate radical. The dose-dependent rate of bond rupture followed by combined crystallographic and Raman analysis indicates that ionizing radiation kick-starts both peroxide decomposition and its regeneration. Peroxidation can be explained by a mechanism in which the substrate radical recombines with superoxide transiently produced in the active site.
Published: 2014

3. The CF-CIRC study: a French collaborative study to assess the accuracy of Cystic Fibrosis diagnosis in neonatal screening

Author: Aleksander Edelman, Philippe Reix, Stéphanie Bui, E. Deneuville, F. Huet, Gérard Lenoir, Delphine Roussel, Gabriel Bellon, Isabelle Sermet-Gaudelus, Service de pédiatrie générale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Régulation des systèmes de transport dans les épithéliums (UMR_S467), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Ressources et de Compétences en Mucoviscidose [CHU Toulouse] (CRCM Toulouse), Service Pneumologie et allergologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Ressources et de Compétences de la Mucoviscidose, hôpital Sud, Hôpital d'Enfants du Bocage, Centre de Ressources et de compétences de la mucoviscidose (CRCM), Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Supported by Assistance Publique des Hôpitaux de Paris, Vaincre La Mucoviscidose and ABCF Protéines Associations., Edelman, Aleksander, Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Necker - Enfants Malades [AP-HP], Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Sud, and Hospices Civils de Lyon (HCL) - Hospices Civils de Lyon (HCL)
Subjects: Male, Pathology, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Mucous membrane of nose, MESH : Equipment Design, MESH : Child, Preschool, MESH: Catheterization, medicine.disease_cause, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Cystic fibrosis, Gastroenterology, MESH: Amiloride, Amiloride, Study Protocol, MESH : Catheterization, MESH: Genetic Screening, Subcutaneous Tissue, 0302 clinical medicine, MESH : Electric Conductivity, Reference Values, MESH : Chlorides, MESH : Female, 030212 general & internal medicine, Sympathomimetics, Sweat, MESH: Cystic Fibrosis Transmembrane Conductance Regulator, Mutation, biology, medicine.diagnostic_test, lcsh:RJ1-570, MESH : Infant, Equipment Design, MESH: Infant, Cystic fibrosis transmembrane conductance regulator, Electrodes, Implanted, 3. Good health, Perfusion, Research Design, Child, Preschool, Chloride channel, Female, France, Sodium Channel Blockers, MESH: Infant, Newbo, medicine.medical_specialty, MESH : Electrodes, Implanted, MESH: Cystic Fibrosis, MESH: Electric Conductivity, Sensitivity and Specificity, Catheterization, 03 medical and health sciences, MESH : Amiloride, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Neonatal Screening, Chlorides, Predictive Value of Tests, MESH : Cystic Fibrosis, 030225 pediatrics, Internal medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Immunoreactive trypsinogen, Pediatrics, Perinatology, and Child Health, Genetic Testing, MESH: Chlorides, MESH : France, Genetic testing, MESH : Genetic Screening, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Newborn screening, MESH: Humans, Ion Transport, business.industry, MESH : Cystic Fibrosis Transmembrane Conductance Regulator, MESH : Humans, MESH: Child, Preschool, Sodium, Electric Conductivity, Infant, Newborn, Isoproterenol, Infant, lcsh:Pediatrics, medicine.disease, MESH: France, Nasal Mucosa, MESH : Infant, Newbo, Pediatrics, Perinatology and Child Health, biology.protein, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, MESH: Electrodes, Implanted, business, MESH: Female, MESH: Equipment Design
Abstract: Background Cystic fibrosis (CF) is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR) protein, which acts as a chloride channel after activation by cyclic AMP (cAMP). Newborn screening programs for CF usually consist of an immunoreactive trypsinogen (IRT) assay, followed when IRT is elevated by testing for a panel of CF-causing mutations. Some children, however, may have persistent hypertrypsinogenemia, only one or no identified CFTR gene mutation, and sweat chloride concentrations close to normal values. In vivo demonstration of abnormal CFTR protein function would be an important diagnostic aid in this situation. Measurements of transepithelial nasal potential differences (NPD) in adults accurately characterize CFTR-related ion transport. The aim of the present study is to establish reference values for NPD measurements for healthy children and those with CF aged 3 months to 3 years, the age range of most difficult-to-diagnose patients with suspected CF. The ultimate goal of our study is to validate NPD testing as a diagnostic tool for children with borderline results in neonatal screening. Methods/Design We adapted the standard NPD protocol for young children, designed a special catheter for them, used a slower perfusion rate, and shortened the protocol to include only measurement of basal PD, transepithelial sodium (Na+) transport in response to the Na+ channel inhibitor amiloride, and CFTR-mediated chloride (Cl-) secretion in response to isoproterenol, a β-agonist in a Cl- free solution. The study will include 20 children with CF and 20 healthy control children. CF children will be included only if they carry 2 CF-causing mutations in the CFTR gene or have sweat chloride concentrations > 60 mEq/L or both. The healthy children will be recruited among the siblings of the CF patients, after verification that they do not carry the familial mutation. Discussion A preliminary study of 3 adult control subjects and 4 children older than 12 years with CF verified that the new protocol was well tolerated and produced NPD measurements that did not differ significantly from those obtained with the standard protocol. This preliminary study will provide a basis for interpreting NPD measurements in patients with suspected CF after neonatal screening. Earlier definitive diagnosis should alleviate parental distress and allow earlier therapeutic intervention and genetic counseling.
Published: 2006

4. Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF

Author: Guilloud-Bataille, G, De Crozes, D, RAULT, G, Degioanni, Anna, Feingold, J, Epidémiologie génétique, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre de Ressources et de Compétences de la Mucoviscidose ( CRCM ), and Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP]
Subjects: Male, [ SDV.GEN.GPO ] Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Cystic Fibrosis, Mutation, Humans, Female, France, Registries, French Registry
Abstract: International audience; Data from 2,666 patients with cystic fibrosis (CF) born in France, submitted during the period of 1992-1996 to the French registry for CF, were used to describe the different mutations, their frequency and their regional distribution. A total of 5,332 CF chromosomes have been analyzed, demonstrating 229 different mutations and accounting for 87% of CF genes in the French population. DeltaF508 is the most common mutation at 67.9% of CF mutations, followed by G542X (2.5%), N1303K (2.0%), 1717-1G-->A (1.2%), R553X (0.8%) and G551D (0.7%). The data show a clear geographical variation in the distribution of many of the mutations. Given the geographical heterogeneity of these mutations, carrier screening does not appear to be feasible in most French regions.
Published: 2000

5. Introduction of a collaborative quality improvement program in the French cystic fibrosis network: the PHARE-M initiative

Author: Dominique Pougheon Bertrand, Pierre Lombrail, Gilles Rault, Guy Minguet, Laboratoire Educations et Pratiques de Santé (LEPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13), Laboratoire d'économie et de management de Nantes Atlantique (LEMNA), Institut d'Économie et de Management de Nantes - Institut d'Administration des Entreprises - Nantes (IEMN-IAE Nantes), Université de Nantes (UN)-Université de Nantes (UN)-FR 3473 Institut universitaire Mer et Littoral (IUML), Université de Bretagne Sud (UBS)-Le Mans Université (UM)-Université d'Angers (UA)-Centre National de la Recherche Scientifique (CNRS)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Université de Bretagne Sud (UBS)-Le Mans Université (UM)-Université d'Angers (UA)-Centre National de la Recherche Scientifique (CNRS)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Université de Nantes (UN)-École Centrale de Nantes (ECN), Département Sciences sociales et de gestion (IMT Atlantique - SSG), IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Centre de Gestion Scientifique i3 (CGS i3), Centre National de la Recherche Scientifique (CNRS)-MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), PHRC, Université Paris 13 (UP13)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Le Mans Université (UM)-Université d'Angers (UA)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Université de Bretagne Sud (UBS)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Centre National de la Recherche Scientifique (CNRS)-Le Mans Université (UM)-Université d'Angers (UA)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Université de Bretagne Sud (UBS)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Centre National de la Recherche Scientifique (CNRS), MINES ParisTech - École nationale supérieure des mines de Paris, and Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Learning and leadership collaborative, Research program, Quality management, Best practice, Clinical microsystem, education, lcsh:Medicine, Coaching, Cystic fibrosis, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Multidisciplinary approach, Health care, Humans, Pharmacology (medical), Registries, 030212 general & internal medicine, Genetics (clinical), Medical education, [SHS.SOCIO]Humanities and Social Sciences/Sociology, business.industry, Research, 4. Education, lcsh:R, General Medicine, Quality Improvement, Quality improvement program, 3. Good health, Test (assessment), Transparency (graphic), Patient registry, France, business, Psychology, Rare disease, 030217 neurology & neurosurgery
Abstract: Background An agreement, signed in 2007 by the 49 French Cystic Fibrosis Centers, included a commitment to participate, within the next 5 years, in a care quality assessment and improvement program (QIP). The objective was to roll out in the French Cystic Fibrosis (CF) care network a QIP adapted from the US program for Accelerating Improvement in Cystic Fibrosis Care developed by The Dartmouth Institute Microsystem Academy (TDIMA) and customized by the US CF Foundation between 2002 and 2013. Methods The French national team at the Nantes-Roscoff CF Center of Expertise was trained at TDIMA and visited US CF centers involved in US Learning and Leadership Collaboratives (LLCs). It introduced the PHARE-M QIP in France by transposing the Action Guide and material. A PHARE-M LLC1 including seven centers, underwent two external assessments. Adjustments were made, then a PHARE-M LLC2 was rolled out at seven more centers in two regions. On-site coaching was strengthened. The teams’ satisfaction was assessed and further adjustments were made. In 2014, the program sought recognition as a continuing education program for healthcare professionals. Results Ninety-six trainees including 14 patients/parents from the 14 CFCs volunteered to participate, test and adapt the program during LLC1 and LLC2 sessions. Comparison of patient outcomes collected in the Registry report by CF center, reflection on potential best practices, selection by each team of an improvement theme, implementation of improvement actions, and exchanges between teams fostered the adhesion of the teams. The program strengthened quality of care, interdisciplinary functioning and collaboration with patients/parents at the centers. The satisfaction expressed by the teams increased over time. A post-PHARE-M cycle maintains the focus on continuous quality improvement (CQI). In 2015, PHARE-M was recognized as a continuing professional development program in healthcare. Conclusions The PHARE-M is a complex intervention in multidisciplinary teams working in a variety of hospital settings. A confluence of factors motivated teams to engage in the program. Involving Patient/Parent in quality improvement (QI) work and developing patient therapeutic education for self-management appeared to be complementary approaches to improve care. Incorporating the program into hospital continuing education insures its sustainability. Transparency of Patient Registry indicators per center published in a brief lapse of time is required to effectively support CQI. The impact of the PHARE-M on patient outcomes after 3 years is the subject of a research program funded by the French Ministry of Health whose results will be available in 2017.
Published: 2018

6. Real-Life Safety and Effectiveness of Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis

Author: Pierre-Régis Burgel, Anne Munck, Isabelle Durieu, Raphaël Chiron, Laurent Mely, Anne Prevotat, Marlene Murris-Espin, Michele Porzio, Michel Abely, Philippe Reix, Christophe Marguet, Julie Macey, Isabelle Sermet-Gaudelus, Harriet Corvol, Stéphanie Bui, Lydie Lemonnier, Clémence Dehillotte, Jennifer Da Silva, Jean-Louis Paillasseur, Dominique Hubert, Julie Mounard, Claire Poulet, Cinthia Rames, Christine Person, Françoise Troussier, Thierry Urban, Marie-Laure Dalphin, Jean-Claude Dalphin, Didier Pernet, Bénédicte Richaud-Thiriez, Mickael Fayon, Julie Macey-Caro, Karine Campbell, Muriel Laurans, Corinne Borderon, Marie-Christine Heraud, André Labbé, Sylvie Montcouquiol, Laurence Bassinet, Natascha Remus, Annlyse Fanton, Anne Houzel-Charavel, Frédéric Huet, Stéphanie Perez-Martin, Amale Boldron-Ghaddar, Manuela Scalbert, Boubou Camara, Catherine Llerena, Isabelle Pin, Sébastien Quétant, Aurélie Cottereau, Antoine Deschildre, Alice Gicquello, Thierry Perez, Lidwine Stervinou-Wemeau, Caroline Thumerelle, Benoit Wallaert, Nathalie Wizla, Jane Languepin, Céline Ménétrey, Magalie Dupuy-Grasset, Lucie Bazus, Clelia Buchs, Virginie Jubin, Marie-Christine Werck-Gallois, Catherine Mainguy, Thomas Perrin, Agnès Toutain-Rigolet, Stéphane Durupt, Quitterie Reynaud, Raphaele Nove-Josserand, Melisande Baravalle-Einaudi, Bérangère Coltey, Nadine Dufeu, Jean-Christophe Dubus, Nathalie Stremler, Davide Caimmi, Yves Billon, Jocelyne Derelle, Sébastien Kieffer, Anne-Sophie Pichon, Cyril Schweitzer, Aurélie Tatopoulos, Sarah Abbes, Tiphaine Bihouée, Isabelle Danner-Boucher, Valérie David, Alain Haloun, Adrien Tissot, Sylvie Leroy, Carole Bailly-Piccini, Annick Clément, Aline Tamalet, Isabelle Honoré, Reem Kanaan, Clémence Martin, Cécile Bailly, Frédérique Chédevergne, Jacques De Blic, Brigitte Fauroux, Murielle Le Bourgeois, Bertrand Delaisi, Michèle Gérardin, Michel Abély, Bruno Ravoninjatovo, Chantal Belleguic, Benoit Desrues, Graziella Brinchault, Michel Dagorne, Eric Deneuville, Sylvaine Lefeuvre, Anne Dirou, Jean Le Bihan, Sophie Ramel, Stéphane Dominique, Annabelle Payet, Romain Kessler, Vincent Rosner, Laurence Weiss, Sandra de Miranda, Dominique Grenet, Abdoul Hamid, Clément Picard, François Brémont, Alain Didier, Géraldine Labouret, Marie Mittaine, Marlène Murris-Espin, Laurent Têtu, Laure Cosson, Charlotte Giraut, Anne-Cécile Henriet, Julie Mankikian, Sophie Marchand, Sandrine Hugé, Véronique Storni, Emmanuelle Coirier-Duet, CHU Cochin [AP-HP], Service de Médecine Interne - Centre Hospitalier Lyon Sud, Hospices Civils de Lyon (HCL)-Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de Ressources et de Compétences en Mucoviscidose [Lyon] (CRCM [Lyon]), Hospices Civils de Lyon (HCL)-CHU Lyon-Hôpital Renée Sabran [CHU - HCL], Hôpital Albert Calmette, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Toulouse [Toulouse], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre de recherche Croissance et signalisation (UMR_S 845), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de pneumologie [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Association Vaincre La Mucoviscidose, Institut Cochin (IC UM3 (UMR 8104 / U1016)), EFFI-STAT, CIC Cochin Pasteur (CIC 1417), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5)-Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Mucoviscidose: physiopathologie et phénogénomique [CRSA], Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Centre de Ressources et de Compétences en Mucoviscidose [CHU Toulouse] (CRCM Toulouse), Service Pneumologie et allergologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5)-Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupe hospitalier Broca-Université Paris Descartes - Paris 5 (UPD5)-Hôtel-Dieu-Hôpital Cochin [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Male, Cystic Fibrosis, Gastrointestinal Diseases, [SDV]Life Sciences [q-bio], Aminopyridines, Quinolones, Critical Care and Intensive Care Medicine, Logistic regression, Aminophenols, Cystic fibrosis, Body Mass Index, Ivacaftor, chemistry.chemical_compound, 0302 clinical medicine, Deprescriptions, Forced Expiratory Volume, Medicine, 030212 general & internal medicine, Fatigue, 2. Zero hunger, biology, Lumacaftor, Headache, lumacaftor–ivacaftor, Cystic fibrosis transmembrane conductance regulator, 3. Good health, Anti-Bacterial Agents, Drug Combinations, Treatment Outcome, Administration, Intravenous, Female, France, medicine.drug, Pulmonary and Respiratory Medicine, Adult, medicine.medical_specialty, Metrorrhagia, Adolescent, Nutritional Status, 03 medical and health sciences, Young Adult, Internal medicine, Product Surveillance, Postmarketing, Humans, Benzodioxoles, Adverse effect, Bronchial Spasm, business.industry, Editorials, Myalgia, medicine.disease, Discontinuation, Dyspnea, Logistic Models, 030228 respiratory system, chemistry, Cough, Multivariate Analysis, biology.protein, postmarketing study, business, Body mass index
Abstract: International audience; Rationale: Lumacaftor-ivacaftor is a CFTR (cystic fibrosis transmembrane conductance regulator) modulator combination recently approved for patients with cystic fibrosis (CF) homozygous for the Phe508del mutation.Objectives: To evaluate the safety and effectiveness of lumacaftor-ivacaftor in adolescents (≥12 yr) and adults (≥18 yr) in a real-life postapproval setting.Methods: The study was conducted in the 47 CF reference centers in France. All patients who initiated lumacaftor-ivacaftor from January 1 to December 31, 2016, were eligible. Patients were evaluated for lumacaftor-ivacaftor safety and effectiveness over the first year of treatment following the French CF Learning Society's recommendations.Measurements and Main Results: Among the 845 patients (292 adolescents and 553 adults) who initiated lumacaftor-ivacaftor, 18.2% (154 patients) discontinued treatment, often owing to respiratory (48.1%, 74 patients) or nonrespiratory (27.9%, 43 patients) adverse events. In multivariable logistic regression, factors associated with increased rates of discontinuation included adult age group, percent predicted FEV1 (ppFEV1) less than 40%, and numbers of intravenous antibiotic courses during the year before lumacaftor-ivacaftor initiation. Patients with continuous exposure to lumacaftor-ivacaftor showed an absolute increase in ppFEV1 (+3.67%), an increase in body mass index (+0.73 kg/m2), and a decrease in intravenous antibiotic courses by 35%. Patients who discontinued treatment had significant decrease in ppFEV1, without improvement in body mass index or decrease in intravenous antibiotic courses.Conclusions: Lumacaftor-ivacaftor was associated with improvement in lung disease and nutritional status in patients who tolerated treatment. Adults who discontinued lumacaftor-ivacaftor, often owing to adverse events, were found at high risk of clinical deterioration.
Published: 2019

7. Intestinal Inflammation in Children with Cystic Fibrosis Is Associated with Crohn's-Like Microbiota Disturbances

Author: Patrick Berger, Thomas Bazin, Thierry Lamireau, Christophe Hubert, Michael Fayon, Thomas Barnetche, Thierry Schaeverbeke, Laurence Delhaes, H. Clouzeau, Katarzyna B. Hooks, Aurélien Barré, Philippe Lehours, Cécile Bébéar, Stéphanie Bui, Macha Nikolski, Raphaël Enaud, Marie Massot, Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] (CRCTB), Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Bioinformatique de Bordeaux (CBIB), CGFB, Laboratoire Bordelais de Recherche en Informatique (LaBRI), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB), CHU Bordeaux [Bordeaux], Laboratoire Hubert Curien [Saint Etienne] (LHC), Université Jean Monnet [Saint-Étienne] (UJM)-Centre National de la Recherche Scientifique (CNRS)-Institut d'Optique Graduate School (IOGS), Biodiversité, Gènes & Communautés (BioGeCo), Institut National de la Recherche Agronomique (INRA)-Université de Bordeaux (UB), USC EA 3671, infections humaines à mycoplasmes et chlamydiae, Université de Bordeaux (UB)-Institut National de la Recherche Agronomique (INRA), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Service de Pneumologie Pédiatrique [Bordeaux], Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Centre d'Investigation Clinique (CIC 0005), Infection à helicobacter, inflammation et cancer, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU de Bordeaux Pellegrin [Bordeaux], Service de Parasitologie et de Mycologie [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Université Sciences et Technologies - Bordeaux 1-Université Bordeaux Segalen - Bordeaux 2, Université de Bordeaux (UB)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Centre National de la Recherche Scientifique (CNRS), Institut d'Optique Graduate School (IOGS)-Université Jean Monnet - Saint-Étienne (UJM)-Centre National de la Recherche Scientifique (CNRS), Centre de Ressources et de Compétences en Mucoviscidose [CHU Toulouse] (CRCM Toulouse), Service Pneumologie et allergologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and Hooks, Katarzyna
Subjects: 0301 basic medicine, dysbiosis index, Faecalibacterium prausnitzii, lcsh:Medicine, Inflammation, Gut flora, Cystic fibrosis, digestive system, Article, cystic fibrosis, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, 0302 clinical medicine, fluids and secretions, intestinal inflammation, Medicine, Veillonella dispar, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, biology, gut microbiota, business.industry, fecal calprotectin, lcsh:R, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, General Medicine, biology.organism_classification, medicine.disease, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, [SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, 3. Good health, stomatognathic diseases, 030104 developmental biology, Immunology, 030211 gastroenterology & hepatology, [SDV.MP.BAC] Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Bacteroides, medicine.symptom, Calprotectin, business, Dysbiosis
Abstract: Cystic fibrosis (CF) is a systemic genetic disease that leads to pulmonary and digestive disorders. In the majority of CF patients, the intestine is the site of chronic inflammation and microbiota disturbances. The link between gut inflammation and microbiota dysbiosis is still poorly understood. The main objective of this study was to assess gut microbiota composition in CF children depending on their intestinal inflammation. We collected fecal samples from 20 children with CF. Fecal calprotectin levels were measured and fecal microbiota was analyzed by 16S rRNA sequencing. We observed intestinal inflammation was associated with microbiota disturbances characterized mainly by increased abundances of Staphylococcus, Streptococcus, and Veillonella dispar, along with decreased abundances of Bacteroides, Bifidobacterium adolescentis, and Faecalibacterium prausnitzii. Those changes exhibited similarities with that of Crohn&rsquo, s disease (CD), as evidenced by the elevated CD Microbial-Dysbiosis index that we applied for the first time in CF. Furthermore, the significant over-representation of Streptococcus in children with intestinal inflammation appears to be specific to CF and raises the issue of gut&ndash, lung axis involvement. Taken together, our results provide new arguments to link gut microbiota and intestinal inflammation in CF and suggest the key role of the gut&ndash, lung axis in the CF evolution.
Published: 2019

8. Carriage of a Single Strain of Nontoxigenic Corynebacterium diphtheriae bv. Belfanti ( Corynebacterium belfantii ) in Four Patients with Cystic Fibrosis

Author: Frédéric Huet, K. Astruc, Marion Benouachkou, Catherine Neuwirth, Diane Pivot, Annlyse Fanton, Alexis Criscuolo, Serge Aho, Julie Toubiana, Edgar Badell-Ocando, Lucie Amoureux, Sylvain Brisse, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre de Ressources et de Compétences en Mucoviscidose [CHU Toulouse] (CRCM Toulouse), Service Pneumologie et allergologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Biodiversité et Epidémiologie des Bactéries pathogènes - Biodiversity and Epidemiology of Bacterial Pathogens, Institut Pasteur [Paris] (IP), Centre national de Référence des Corynebactéries du Complexe Diphtheriae - National Reference Center Corynebacteria of the diphtheriae complex (CNR), Hub Bioinformatique et Biostatistique - Bioinformatics and Biostatistics HUB, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), This work was supported financially by Dijon University Hospital, Institut Pasteur, and Public Health France., We acknowledge the help of Melody Dazas and Annick Carmi-Leroy for the microbiological characterization of the isolates. We thank the 'Plateforme de Microbiologie Mutualisée' from Institut Pasteur for genomic sequencing, Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Institut Pasteur [Paris], and Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)
Subjects: Microbiology (medical), MESH: Cystic Fibrosis, Biovar, [SDV]Life Sciences [q-bio], Corynebacterium, MESH: Asymptomatic Infections, Cystic fibrosis, Microbiology, cystic fibrosis, 03 medical and health sciences, MESH: Corynebacterium diphtheriae, MESH: Anti-Bacterial Agents, medicine, Colonization, MESH: Diphtheria, 030304 developmental biology, Corynebacterium diphtheriae, 0303 health sciences, Corynebacterium diphtheriae bv. belfanti, MESH: Humans, biology, 030306 microbiology, business.industry, transmission, MESH: Adult, Antimicrobial, biology.organism_classification, medicine.disease, colonization, MESH: Male, 3. Good health, MESH: France, Carriage, genomic sequencing, epidemiology, business, MESH: Whole Genome Sequencing, MESH: Female
Abstract: International audience; Cystic fibrosis (CF) patients are commonly colonized by bacterial pathogens, which can induce persistent lung inflammation and may contribute to clinical deterioration. Colonization of CF patients and cross-transmission by Corynebacterium diphtheriae have not been reported so far. The aim of this article was to investigate the possibility of a cross-transmission of C. diphtheriae biovar Belfanti between four patients of a CF center. C. diphtheriae biovar Belfanti (now formally called C. belfantii) isolates were collected from four patients in a single CF care center over a period of 6 years and analyzed by microbiological methods and whole-genome sequencing. Epidemiological links among patients were investigated. Ten isolates were collected from 4 patients. Whole-genome sequencing of one isolate from each patient showed that a single strain was shared among them. In addition, one patient was found to have the same strain in two consecutive samplings performed 9 months apart. The strain was nontoxigenic and was susceptible to most antimicrobial agents. Ciprofloxacin resistance was observed in one patient. The idea of transmission of the strain among patients was supported by the occurrence of same-day visits to the CF center. This study demonstrated colonization of CF patients by C. diphtheriae biovar Belfanti (C. belfantii), and the data suggest persistence and transmission of a unique strain during at least 6 years in a single CF patient care center.
Published: 2019

9. Evaluation of quantitative PCR for early diagnosis of Pseudomonas aeruginosa infection in cystic fibrosis: a prospective cohort study

Author: I. Frachon, M.-R. Munck, A. Dirou, D. Horeau-Langlard, M.-P. Pelletier, Christopher Payan, I. Danner-Boucher, J. Caillon, G. Le Gal, Gilles Rault, J. Le Bihan, Sylvain Rosec, S. Ramel, Claude Férec, Elise Poulhazan, Emmanuel Nowak, Geneviève Héry-Arnaud, K. Revert, A. Haloun, S. Gouriou, R. Le Berre, V. David, CIC Brest, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Cavale Blanche, Thérapeutiques cliniques et expérimentales des infections (EA 3826) (EA 3826), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Neurosciences cognitives (NC), Université Sciences et Technologies - Bordeaux 1-Centre National de la Recherche Scientifique (CNRS), Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique moléculaire et génétique épidémiologique, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Biologie et physiologie des états septiques, IFR114-Université de Lille, Droit et Santé, and Calvez, Ghislaine
Subjects: Male, 0301 basic medicine, Microbiology (medical), medicine.medical_specialty, Time Factors, Adolescent, Cystic Fibrosis, [SDV]Life Sciences [q-bio], 030106 microbiology, Context (language use), Biology, Real-Time Polymerase Chain Reaction, medicine.disease_cause, Sensitivity and Specificity, Gastroenterology, Cystic fibrosis, Microbiology, 03 medical and health sciences, Interquartile range, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Internal medicine, medicine, Humans, Pseudomonas Infections, Clinical significance, Prospective Studies, Child, Prospective cohort study, ComputingMilieux_MISCELLANEOUS, Bacteriological Techniques, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Pseudomonas aeruginosa, Sputum, General Medicine, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Early Diagnosis, Infectious Diseases, Real-time polymerase chain reaction, Molecular Diagnostic Techniques, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Female, medicine.symptom, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Objectives Early detection of Pseudomonas aeruginosa lung positivity is a key element in cystic fibrosis (CF) management. PCR has increased the accuracy of detection of many microorganisms. Clinical relevance of P. aeruginosa quantitative PCR (qPCR) in this context is unclear. Our aim was to determine P. aeruginosa qPCR sensitivity and specificity, and to assess the possible time saved by qPCR in comparison with standard practice (culture). Methods A multicentre cohort study was conducted over a 3-year period in 96 patients with CF without chronic P. aeruginosa colonization. Sputum samples were collected at each visit. Conventional culture and two-step qPCR ( opr L qPCR and gyr B /ecf X qPCR) were performed for 707 samples. The positivity criteria were based on the qPCR results, defined in a previous study as follow: opr L qPCR positivity alone if bacterial density was opr L qPCR combined with gyr B /ecf X qPCR if bacterial density was ≥730 CFU/mL. Results During follow up, 36 of the 96 patients with CF were diagnosed on culture as colonized with P. aeruginosa. This two-step qPCR displayed a sensitivity of 94.3% (95% CI 79.7%–98.6%), and a specificity of 86.3% (95% CI 83.4%–88.7%). It enabled P. aeruginosa acquisition to be diagnosed earlier in 20 patients, providing a median detection time gain of 8 months (interquartile range 3.7–17.6) for them. Conclusions Implementing opr L and gyr B /ecf X qPCR in the management of patients with CF allowed earlier detection of first P. aeruginosa lung positivity than culture alone.
Published: 2017

10. The Reconfiguration of the Relationship to Care for a Rare Disease: Neonatal Expended Screening in a Socio-material Perspective

Author: P. Cam, Christine Faquet, Guy Minguet, Gilles Rault, Chloé Langeard, L. Guéganton, Pierre Lombrail, Groupe de Recherche Angevin en Economie et Management (GRANEM), Université d'Angers (UA)-AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut National de l'Horticulture et du Paysage, Laboratoire d'économie et de management de Nantes Atlantique (LEMNA), FR 3473 Institut universitaire Mer et Littoral (IUML), Université de Bretagne Sud (UBS)-Le Mans Université (UM)-Université d'Angers (UA)-Centre National de la Recherche Scientifique (CNRS)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Université de Bretagne Sud (UBS)-Le Mans Université (UM)-Université d'Angers (UA)-Centre National de la Recherche Scientifique (CNRS)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Institut d'Économie et de Management de Nantes - Institut d'Administration des Entreprises - Nantes (IEMN-IAE Nantes), Université de Nantes (UN)-Université de Nantes (UN), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), and Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM)
Subjects: education.field_of_study, Engineering, [SHS.SOCIO]Humanities and Social Sciences/Sociology, Multidisciplinary, business.industry, Institutionalisation, Population, Public policy, Bioethics, Evidence-based medicine, [SDV.ETH]Life Sciences [q-bio]/Ethics, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Nursing, 030225 pediatrics, Health care, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, 030212 general & internal medicine, Biomedical technology, business, education, Mass screening, Neonatal Expended Screening
Abstract: International audience; Neonatal Screening (NBS) is a mass screening, secondary prevention policy aimed at detecting one or several often congenital disorders in all neonates in a given country. The French CF NBS programme is completely functional since the middle of 2003. Drawing its inspiration from the socio-material approach, this article advances a description and analysis of the interactions between the biomedical technologies used in neonatal cystic fibrosis screening and the resulting changes in clinical practice, the bioethical debate and finally in the interstice between voluntary individual consent to screening and the management of a population’s health. The analysis grid focuses on four dimensions: institutional, techno-scientific, regulatory and socio-professional. Backed up by a field survey conducted in the specialised healthcare centres, this study explores two major aspects of the repercussions of NBS: first, the genesis and institutionalisation of this public policy and the impact of a more flexible form of Evidence Based Medicine (EBM) and the sustained controversy on the neonatal screening programme uniting the community of cystic fibrosis paediatrics. This study suggests that institutional stability remains fragile and in this respect constitutes a paradoxical form of production with incompleteness and uncertainty as constituting factors.
Published: 2013

11. Modulating Innate and Adaptive Immunity by (R)-Roscovitine: Potential Therapeutic Opportunity in Cystic Fibrosis

Author: Gilles Rault, Ashok B. Kulkarni, Laurent Meijer, Frédéric Becq, Guillaume Dorothée, Adriano G. Rossi, Michaela Prochazkova, Robert D. Gray, Vladimir Riazanski, Caroline Norez, Dominique Mottier, Hervé Galons, Nadège Loaëc, Aida G. Gabdoulkhakova, Geneviève Héry-Arnaud, Emmanuel Nowak, Véronique Witko-Sarsat, Denis Ravel, Nassima Oumata, Rozenn Le Berre, L. Guéganton, Deborah J. Nelson, Bradford Hall, Calvez, Ghislaine, ManRos Therapeutics, University of Chicago, Laboratoire Universitaire de Biodiversité et Ecologie Microbienne (LUBEM), Université de Brest (UBO), Biologie et physiologie des états septiques, IFR114-Université de Lille, Droit et Santé, Unité de Technologies Chimiques et Biologiques pour la Santé (UTCBS - UM 4 (UMR 8258 / U1022)), Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Centre d'Investigation Clinique (CIC - Brest), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), National Institute of Dental and Craniofacial Research, Queen's Medical Researche Institute, University of Edinburgh, Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Signalisation et Transports Ioniques Membranaires (STIM), Université de Poitiers-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Centre de Ressources et de Compétences de la Mucoviscidose [Roscoff] (CRCM), Société française de la mucoviscidose, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), and Université de Poitiers-Université de Tours-Centre National de la Recherche Scientifique (CNRS)
Subjects: 0301 basic medicine, [SDV.IMM] Life Sciences [q-bio]/Immunology, Cystic Fibrosis, [SDV]Life Sciences [q-bio], Anti-Inflammatory Agents, TRPC6, Pain, Inflammation, Biology, Adaptive Immunity, Cystic fibrosis, Corrector, Immunomodulation, 03 medical and health sciences, chemistry.chemical_compound, Immunity, Neoplasms, medicine, Roscovitine, Immunology and Allergy, Animals, Humans, CFTR, Seliciclib, Innate immunity, Analgesics, Clinical Trials as Topic, Innate immune system, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Degranulation, medicine.disease, Acquired immune system, Immunity, Innate, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, chemistry, Apoptosis, Purines, Immunology, Pseudomonas aeruginosa, Cancer research, [SDV.IMM]Life Sciences [q-bio]/Immunology, medicine.symptom, Infection, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; (R)-Roscovitine, a pharmacological inhibitor of kinases, is currently in phase II clinical trial as a drug candidate for the treatment of cancers, Cushing's disease and rheumatoid arthritis. We here review the data that support the investigation of (R)-roscovitine as a potential therapeutic agent for the treatment of cystic fibrosis (CF). (R)-Roscovitine displays four independent properties that may favorably combine against CF: (1) it partially protects F508del-CFTR from proteolytic degradation and favors its trafficking to the plasma membrane; (2) by increasing membrane targeting of the TRPC6 ion channel, it rescues acidification in phagolysosomes of CF alveolar macrophages (which show abnormally high pH) and consequently restores their bactericidal activity; (3) its effects on neutrophils (induction of apoptosis), eosinophils (inhibition of degranulation/induction of apoptosis) and lymphocytes (modification of the Th17/Treg balance in favor of the differentiation of anti-inflammatory lymphocytes and reduced production of various interleukins, notably IL-17A) contribute to the resolution of inflammation and restoration of innate immunity, and (4) roscovitine displays analgesic properties in animal pain models. The fact that (R)-roscovitine has undergone extensive preclinical safety/pharmacology studies, and phase I and II clinical trials in cancer patients, encourages its repurposing as a CF drug candidate.
Published: 2015

12. Fatty acids platelets and oxidative markers following intravenous n-3 fatty acids administration in cystic fibrosis: An open pilot observational study

Author: Gabriel Bellon, Hubert Roth, Michel Lagarde, Isabelle Durieu, Evelyne Véricel, Raphaele Nove Josserand, Jocelyne Drai, Daniel Guichardant, Jean-Paul Steghens, Eric Fontaine, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Physiopathologie des Lipides et Membranes (PLM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS), Bioénergétique fondamentale et appliquée, Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Fédération de Biochimie, Hospices Civils de Lyon (HCL)-Hôpital Edouard Herriot [CHU - HCL], Service de Biochimie Générale, Métabolique et Moléculaire, Centre de Ressources et de compétences de la mucoviscidose (CRCM), Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Vericel, Evelyne, Institut National des Sciences Appliquées de Lyon (INSA Lyon), and Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: MESH: Oxidation-Reduction, 030309 nutrition & dietetics, Pilot Projects, 030204 cardiovascular system & hematology, medicine.disease_cause, Cystic fibrosis, Lipid peroxidation, chemistry.chemical_compound, 0302 clinical medicine, MESH: Fatty Acids, Omega-3, Weight loss, MESH: Child, Platelet, Child, MESH: Blood Platelets, Intravenous fish-oil treatment, 0303 health sciences, Fatty Acids, n-3 fatty acids, MESH: Fatty Acids, 3. Good health, Biochemistry, Docosahexaenoic acid, Child, Preschool, Injections, Intravenous, Arachidonic acid, medicine.symptom, Oxidation-Reduction, Adult, Blood Platelets, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Adolescent, MESH: Cystic Fibrosis, 03 medical and health sciences, Internal medicine, Fatty Acids, Omega-3, medicine, Humans, Pediatrics, Perinatology, and Child Health, MESH: Adolescent, Glutathione Peroxidase, MESH: Humans, business.industry, MESH: Child, Preschool, MESH: Biological Markers, MESH: Adult, Glutathione, MESH: Pilot Projects, medicine.disease, MESH: Injections, Intravenous, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, Endocrinology, chemistry, Oxidative stress, MESH: Glutathione Peroxidase, Pediatrics, Perinatology and Child Health, business, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, Biomarkers
Abstract: International audience; BACKGROUND: An imbalance in the ratio of arachidonic acid and docosahexaenoic acid (DHA) was found in cystic fibrosis (CF) affected tissues and was suggested to promote inflammation. Several studies have shown that the long chain n-3 fatty acids reduced inflammatory activity while others have highlighted prooxidant activity of DHA at high concentrations. The aim of our study was to evaluate the effects of an intravenous fish-oil emulsion enriched with n-3 FA in patients with CF on plasma and platelet FA composition and peroxidation markers. METHODS: 13 patients with CF received one IV emulsion per week of 2 mL/kg fish-oil n-3 emulsion for 12 weeks. RESULTS: There was a significant increase in 20:5 n-3 and 22:6 n-3 platelet FA composition, no variation in 20:4 n-6, a decrease in n-9. There was no variation in plasma FA composition. Specific urinary markers of lipid peroxidation derived from n-3 and n-6 showed a very high level before infusion compared with usual values in healthy subjects which was not affected by treatment. A significant weight loss and a decrease in reduced glutathione were observed in adult patients. CONCLUSIONS: The intravenous administration of n-3 FA in CF patients induced a significant modification in platelet FA composition but no modification of oxidative markers. However, the weight loss and the decreased level in reduced glutathione observed in adult patients may suggest a potential deleterious activity for some patients. Further studies are necessary to determine the optimal dose and route for long chain FA administration required to reach a potential beneficial effect.
Published: 2007

13. Insights into the respiratory tract microbiota of patients with cystic fibrosis during early Pseudomonas aeruginosa colonization

Author: Sophie Vallet, Sylvain Rosec, S. Gouriou, Marlène Keravec, Jérôme Mounier, Gilles Rault, Emmanuel Prestat, Georges Barbier, Emmanuel Coton, Gaëtan Burgaud, Janet K. Jansson, Geneviève Héry-Arnaud, Laboratoire Universitaire de Biodiversité et Ecologie Microbienne (LUBEM), Université de Brest (UBO), Qiagen Marseille, Luminy Biotech Entreprises, Lawrence Berkeley National Laboratory [Berkeley] (LBNL), Laboratoire de Parasitologie et Mycologiede [CHRU Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Biological Sciences Division, Pacific Northwest National Laboratory (PNNL), Centre d'Investigation Clinique (CIC - Brest), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), and Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM)
Subjects: Respiratory viruses, Multidisciplinary, Lung, Pseudomonas aeruginosa, Research, [SDV]Life Sciences [q-bio], Respiratory tract microbiota, Obligate anaerobe, Biology, medicine.disease, medicine.disease_cause, Cystic fibrosis, 3. Good health, Microbiology, medicine.anatomical_structure, medicine, Pyrosequencing, Colonization, Respiratory system, Anaerobes, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Early colonization, Respiratory tract
Abstract: Pseudomonasaeruginosa plays a major role in cystic fibrosis (CF) progression. Therefore, it is important to understand the initial steps of P. aeruginosa infection. The structure and dynamics of CF respiratory tract microbial communities during the early stages of P. aeruginosa colonization were characterized by pyrosequencing and cloning-sequencing. The respiratory microbiota showed high diversity, related to the young age of the CF cohort (mean age 10 years). Wide inter- and intra-individual variations were revealed. A common core microbiota of 5 phyla and 13 predominant genera was found, the majority of which were obligate anaerobes. A few genera were significantly more prevalent in patients never infected by P. aeruginosa. Persistence of an anaerobic core microbiota regardless of P. aeruginosa status suggests a major role of certain anaerobes in the pathophysiology of lung infections in CF. Some genera may be potential biomarkers of pulmonary infection state. Electronic supplementary material The online version of this article (doi:10.1186/s40064-015-1207-0) contains supplementary material, which is available to authorized users.
Published: 2015

14. Analyse de la prise en charge hospitalière ambulatoire de la mucoviscidose

Author: Isabelle Durieu, Michel Pépin, Dominique Pougheon, Pierre Lombrail, Frédéric Kletz, G. Rault, Jean-Claude Moisdon, Gabriel Bellon, Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), Centre de Gestion Scientifique i3 (CGS i3), MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Lyon [ANSES], Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES), Virologie et pathologie humaine (VirPath), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Service de Pneumologie Pédiatrique, Hospices Civils de Lyon (HCL)-Hôpital Debrousse, Hospices Civils de Lyon (HCL), Service de Médecine Interne - Centre Hospitalier Lyon Sud, and Hospices Civils de Lyon (HCL)-Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS)
Subjects: Gestion continue qualité, Soins ambulatoires, Public Health, Environmental and Occupational Health, [SHS.GESTION]Humanities and Social Sciences/Business administration, Qualité des soins, Mucoviscidose, ComputingMilieux_MISCELLANEOUS, 3. Good health
Abstract: Introduction : Apres generalisation du depistage neo-natal, la filiere mucoviscidose s’est structuree autour de 45 centres de ressources et de competences, de la Societe francaise de la mucoviscidose, de deux centres de reference, d’un registre qualifie et d’un protocole national diagnostic soins, en collaboration avec l’association Vaincre la mucoviscidose. Organisation et progres therapeutiques se sont traduits par l’augmentation de la file active des centres et de leur activite ambulatoire. Les partenaires menent depuis 2010 un etat des lieux de la prise en charge et des difficultes des centres a se conformer aux bonnes pratiques de soins. Methodes : Deux approches, quantitative et qualitative, ont porte sur l’activite des professionnels dans huit centres (suivant au total 1 475 patients) au cours des venues ambulatoires et pour la coordination des soins a domicile. Resultats : Deux tiers des 1 475 patients ont ete pris en charge sur la periode ; parmi eux moins de la moitie (40 %) est venue au centre, mais la coordination des soins les a tous concernes. Le socle de base (medecin, infirmiere, kinesitherapeute) n’est pas mobilise a chaque venue programmee. Les temps mobilises dans les centres adultes sont de 40 % inferieurs a ceux des centres pediatriques toutes activites confondues. L’organisation du processus de consultation pluridisciplinaire est compliquee par la disponibilite insuffisante des ressources et l’inadaptation de certains locaux. Discussion : Les centres sont en difficulte pour appliquer les recommandations a une file active en constante augmentation, repondre aux besoins nouveaux des patients adultes et des patients transplantes. Une mise a niveau des ressources et du protocole apparait necessaire.
Published: 2015

15. Prévalence de Pneumocystis jirovecii chez les patients atteints de mucoviscidose en Bretagne

Author: Jean-Pierre Gangneux, E. Deneuville, Chantal Belleguic, Gilles Nevez, Michèle Virmaux, Florence Robert-Gangneux, Gilles Rault, Céline Damiani, Anne Totet, Solène Le Gal, S. Ramel, Service de Parasitologie-Mycologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Laboratoire Universitaire de Biodiversité et Ecologie Microbienne (LUBEM), Université de Brest (UBO), Centre de Ressource et de Compétences de la Mucoviscidose, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes], Centre de Ressources et de Compétences de la Mucoviscidose, hôpital Sud, Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), Departments of Medical Parasitology and Mycology, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de Ressource et de Compétences de la Mucoviscidose [CHU Rennes], and CHU Pontchaillou [Rennes]
Subjects: Infectious Diseases, [SDV]Life Sciences [q-bio], 3. Good health
Abstract: National audience; Pneumocystis jirovecii (P. jirovecii) est un champignon atypique et transmissible à fort tropisme pulmonaire. La prévalence de P. jirovecii chez les patients atteints de mucoviscidose a été évaluée en Allemagne à 7,4 %, en Espagne à 21,6 % et au Brésil à 38,2 %. En revanche, les données concernant la prévalence de P. jirovecii chez les patients atteints de mucoviscidose en France restent parcellaires en particulier en Bretagne, région où la prévalence de la mucoviscidose est élevée. L’objectif de ce travail a été de déterminer la prévalence de la colonisation de P. jirovecii en Bretagne chez les patients mucoviscidosiques suivis dans les CRCM de Rennes et de Brest-Roscoff. Les expectorations de 86 patients (178 prélèvements) suivis à Rennes et 76 patients (146 prélèvements) suivis à Brest-Roscoff ont été analysées rétrospectivement. La détection de P. jirovecii a été réalisée à l’aide d’une PCR en temps réel ciblant le gène codant pour l’ARN de la grande sous-unité du ribosome de la mitochondrie. P. jirovecii a été détecté chez 3/86 patients (3,5 %) suivis à Rennes et 1/76 patients (1,3 %) suivis à Brest-Roscoff, soit une prévalence globale de 2,5 %. Ces résultats portant sur 2 centres bretons montrent que la prévalence de P. jirovecii chez les patients atteints de mucoviscidose en Bretagne est faible en comparaison de celle observée en Allemagne, en Espagne et au Brésil. Cette étude constitue l’étape préalable indispensable pour déterminer les facteurs de risque d’acquisition du champignon chez les patients mucoviscidosiques et expliquer ces différences de prévalence
Published: 2015

16. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Author: Christel, Thauvin-Robinet, Anne, Munck, Frédéric, Huet, Alix, de Becdelièvre, Clément, Jimenez, Guy, Lalau, Elodie, Gautier, Jacques, Rollet, Jean, Flori, Raphaëlle, Nové-Josserand, Jean-Claude, Soufir, Alain, Haloun, Dominique, Hubert, Elise, Houssin, Gil, Bellis, Gilles, Rault, Albert, David, Laurent, Janny, Raphaël, Chiron, Nathalie, Rives, Dominique, Hairion, Patrick, Collignon, Antoine, Valeri, Gilles, Karsenty, Annick, Rossi, Marie-Pierre, Audrézet, Claude, Férec, Julie, Leclerc, Marie des, Georges, Mireille, Claustres, Thierry, Bienvenu, Bénédicte, Gérard, Pierre, Boisseau, Faïza, Cabet-Bey, David, Cheillan, Delphine, Feldmann, Christine, Clavel, Eric, Bieth, Albert, Iron, Brigitte, Simon-Bouy, Vincent, Izard, Julie, Steffann, Stéphane, Viville, Catherine, Costa, Véronique, Drouineaud, Patricia, Fauque, Christine, Binquet, Claire, Bonithon-Kopp, Mike A, Morris, Laurence, Faivre, Michel, Goossens, Michel, Roussey, Emmanuelle, Girodon, L, Weiss, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de pédiatrie (CHU de Dijon), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Centre de Biologie Pathologie, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques (CIC-EC), Université de Bourgogne (UB)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Nantes (CHU Nantes), CIC Cochin Pasteur (CIC 1417), Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupe hospitalier Broca-Université Paris Descartes - Paris 5 (UPD5)-Hôtel-Dieu-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut national d'études démographiques (INED), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), MLab, Dauphine Recherches en Management (DRM), Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Génétique, Reproduction et Développement (GReD), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Gamétogenèse et Qualité du Gamète - ULR 4308 (GQG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université de Lille, Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), CHRU de Brest, service de chirurgie urologique et de la transplantation reinale (CHU - BREST - Urologie), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Chirurgie urologique et transplantation rénale [Hôpital de la Conception - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Biochimie et biologie moléculaire, Hôpital Cochin [AP-HP], Service d'hématologie et immunologie, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Service de génétique médicale [CHU Nantes], Service d'Endocrinologie Moléculaire et Maladies rares, Hospices Civils de Lyon (HCL), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Biochimie et de Biologie Moléculaire [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Plasticité de l'épithélium respiratoire dans les conditions normales et pathologiques - UMR-S 903 (PERPMP), SFR CAP Santé (Champagne-Ardenne Picardie Santé), Université de Reims Champagne-Ardenne (URCA)-Université de Picardie Jules Verne (UPJV)-Université de Reims Champagne-Ardenne (URCA)-Université de Picardie Jules Verne (UPJV)-Centre Hospitalier Universitaire de Reims (CHU Reims)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Reims Champagne-Ardenne (URCA), CHU Toulouse [Toulouse], Laboratoire de Génétique Humaine, Développement et Cancer, Université Bordeaux Segalen - Bordeaux 2, Centre Hospitalier de Versailles André Mignot (CHV), Université Paris Descartes - Paris 5 (UPD5), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de Biologie de la reproduction CECOS - [CHU de Dijon], Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Service de Pédiatrie, Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5)-Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Université de Reims Champagne-Ardenne (URCA)-Centre Hospitalier Universitaire de Reims (CHU Reims)-Institut National de la Santé et de la Recherche Médicale (INSERM)-SFR CAP Santé (Champagne-Ardenne Picardie Santé), Université de Reims Champagne-Ardenne (URCA)-Université de Picardie Jules Verne (UPJV)-Université de Reims Champagne-Ardenne (URCA)-Université de Picardie Jules Verne (UPJV), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5)-Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL-Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL, Génétique, Reproduction et Développement - Clermont Auvergne (GReD), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS), Gamétogenèse et Qualité du Gamète (GQG), Normandie Université (NU)-Normandie Université (NU)-Université de Lille, Droit et Santé-Université de Lille, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION ), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc - U1172 Inserm), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université Lille 2 - Faculté de Médecine, CHU Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Université Paris Diderot - Paris 7 (UPD7), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Service de biochimie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], and Centre Hospitalier de Versailles (CHV)
Subjects: Infertility, Male, medicine.medical_specialty, Heterozygote, Cystic Fibrosis, Offspring, [SDV]Life Sciences [q-bio], Cystic Fibrosis Transmembrane Conductance Regulator, Gene mutation, Compound heterozygosity, Asymptomatic, Cystic fibrosis, 03 medical and health sciences, 0302 clinical medicine, Vas Deferens, Male Urogenital Diseases, Mutation Rate, Internal medicine, Prenatal Diagnosis, Genotype, Genetics, medicine, Humans, Family history, Child, Sweat, Genetics (clinical), Infertility, Male, 030304 developmental biology, 0303 health sciences, business.industry, Infant, Newborn, Infant, medicine.disease, 3. Good health, Phenotype, 030228 respiratory system, Child, Preschool, Immunology, Mutation, Female, medicine.symptom, business
Abstract: International audience; BACKGROUND:The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.METHODS:Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics.RESULTS:97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, with CBAVD being the reason for referral in 76%. In 166/179 patients with available detailed clinical features, final diagnoses were: four late-onset marked pulmonary disease, 83 isolated CBAVD, 67 other CFTR-related phenotypes, including 44 CBAVD with pulmonary and/or pancreatic symptoms and 12 asymptomatic cases. Respiratory symptoms were observed in 30% of the patients, but the overall phenotype was mild. No correlation was observed between sweat chloride concentrations and disease severity. Five couples at risk of CF offspring were identified and four benefited from prenatal or preimplantation genetic diagnoses (PND or PGD). Eight children were born, including four who were compound heterozygous for p.Arg117His and one with a severe CF mutation.CONCLUSIONS:Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up. Depending on the CBAVD patients' genotype, a CFTR analysis should be considered in their partners in order to identify CF carrier couples and offer PND or PGD
Published: 2013

17. The Reconfiguration of the Relationship to Care for a Rare Disease: Neonatal Expended Screening in a Socio-material Perspective

Author: Langeard, Chloé, Minguet, Guy, Gueganton, Laetitia, Cam, Pierre, Faquet, Christine, Lombrail, Pierre, Rault, Gilles, Groupe de Recherche Angevin en Economie et Management (GRANEM), Université d'Angers (UA)-AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut National de l'Horticulture et du Paysage, Laboratoire d'économie et de management de Nantes Atlantique (LEMNA), FR 3473 Institut universitaire Mer et Littoral (IUML), Université de Bretagne Sud (UBS)-Le Mans Université (UM)-Université d'Angers (UA)-Centre National de la Recherche Scientifique (CNRS)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Université de Bretagne Sud (UBS)-Le Mans Université (UM)-Université d'Angers (UA)-Centre National de la Recherche Scientifique (CNRS)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Institut d'Économie et de Management de Nantes - Institut d'Administration des Entreprises - Nantes (IEMN-IAE Nantes), Université de Nantes (UN)-Université de Nantes (UN), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), Université d'Angers (UA)-AGROCAMPUS OUEST-Institut National de l'Horticulture et du Paysage, Institut d'Économie et de Management de Nantes - Institut d'Administration des Entreprises - Nantes (IEMN-IAE Nantes), Université de Nantes (UN)-Université de Nantes (UN)-FR 3473 Institut universitaire Mer et Littoral (IUML), and École Centrale de Nantes (ECN)-Université de Nantes (UN)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Le Mans Université (UM)-Université de Bretagne Sud (UBS)-École Centrale de Nantes (ECN)-Université de Nantes (UN)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Le Mans Université (UM)-Université de Bretagne Sud (UBS)
Subjects: [SHS.SOCIO]Humanities and Social Sciences/Sociology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neonatal Expended Screening, [SDV.ETH]Life Sciences [q-bio]/Ethics
Abstract: International audience; Neonatal Screening (NBS) is a mass screening, secondary prevention policy aimed at detecting one or several often congenital disorders in all neonates in a given country. The French CF NBS programme is completely functional since the middle of 2003. Drawing its inspiration from the socio-material approach, this article advances a description and analysis of the interactions between the biomedical technologies used in neonatal cystic fibrosis screening and the resulting changes in clinical practice, the bioethical debate and finally in the interstice between voluntary individual consent to screening and the management of a population’s health. The analysis grid focuses on four dimensions: institutional, techno-scientific, regulatory and socio-professional. Backed up by a field survey conducted in the specialised healthcare centres, this study explores two major aspects of the repercussions of NBS: first, the genesis and institutionalisation of this public policy and the impact of a more flexible form of Evidence Based Medicine (EBM) and the sustained controversy on the neonatal screening programme uniting the community of cystic fibrosis paediatrics. This study suggests that institutional stability remains fragile and in this respect constitutes a paradoxical form of production with incompleteness and uncertainty as constituting factors.
Published: 2013

18. Proposal of a quantitative PCR-based protocol for an optimal Pseudomonas aeruginosa detection in patients with cystic fibrosis

Author: Jeanne Hardy, Sylvie Boisramé-Gastrin, S. Gouriou, Christopher Payan, Florence Le Gall, Rozenn Le Berre, Sylvain Rosec, Sophie Vallet, Gilles Rault, Geneviève Héry-Arnaud, Laboratoire de Parasitologie et Mycologiede [CHRU Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Laboratoire Universitaire de Biodiversité et Ecologie Microbienne (LUBEM), Université de Brest (UBO), Département de Médecine Interne et Pneumologie, Centre d'Investigation Clinique (CIC - Brest), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), This study was supported by a grant from the French Cystic Fibrosis Association 'Vaincre la Mucoviscidose' (contract No. RCO 1773)., Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), and BMC, Ed.
Subjects: Microbiology (medical), medicine.medical_specialty, [SDV]Life Sciences [q-bio], Biology, medicine.disease_cause, Microbiology, Gastroenterology, Cystic fibrosis, Polymerase Chain Reaction, Sensitivity and Specificity, law.invention, 03 medical and health sciences, Bacterial Proteins, law, Internal medicine, medicine, Humans, In patient, Pseudomonas Infections, [SDV.MP] Life Sciences [q-bio]/Microbiology and Parasitology, Polymerase chain reaction, 030304 developmental biology, DNA Primers, 0303 health sciences, Lung, 030306 microbiology, Pseudomonas aeruginosa, Methodology Article, Early detection, medicine.disease, 3. Good health, qPCR, medicine.anatomical_structure, Real-time polymerase chain reaction, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Parasitology, Disease progress
Abstract: Background The lung of patients with cystic fibrosis (CF) is particularly sensitive to Pseudomonas aeruginosa. This bacterium plays an important role in the poor outcome of CF patients. During the disease progress, first acquisition of P. aeruginosa is the key-step in the management of CF patients. Quantitative PCR (qPCR) offers an opportunity to detect earlier the first acquisition of P. aeruginosa by CF patients. Given the lack of a validated protocol, our goal was to find an optimal molecular protocol for detection of P. aeruginosa in CF patients. Methods We compared two formerly described qPCR formats in early detection of P. aeruginosa in CF sputum samples: a qPCR targeting oprL gene, and a multiplex PCR targeting gyrB and ecfX genes. Results Tested in vitro on a large panel of P. aeruginosa isolates and others gram-negative bacilli, oprL qPCR exhibited a better sensitivity (threshold of 10 CFU/mL versus 730 CFU/mL), whereas the gyrB/ecfX qPCR exhibited a better specificity (90% versus 73%). These results were validated ex vivo on 46 CF sputum samples positive for P. aeruginosa in culture. Ex vivo assays revealed that qPCR detected 100 times more bacterial cells than culture-based method did. Conclusion Based on these results, we proposed a reference molecular protocol combining the two qPCRs, which offers a sensitivity of 100% with a threshold of 10 CFU/mL and a specificity of 100%. This combined qPCR-based protocol can be adapted and used for other future prospective studies.
Published: 2013

19. L’expérience professionnelle du médecin hospitalier à l’épreuve du dépistage :: le cas de l’annonce du diagnostic de la mucoviscidose

Author: Langeard, Chloé, Minguet, Guy, Guéganton, Laetitia, Cam, Pierre, Faquet, Christine, Lombrail, Pierre, Rault, Gilles, Groupe de Recherche Angevin en Economie et Management (GRANEM), Université d'Angers (UA)-AGROCAMPUS OUEST-Institut National de l'Horticulture et du Paysage, Laboratoire d'économie et de management de Nantes Atlantique (LEMNA), Institut d'Économie et de Management de Nantes - Institut d'Administration des Entreprises - Nantes (IEMN-IAE Nantes), Université de Nantes (UN)-Université de Nantes (UN)-FR 3473 Institut universitaire Mer et Littoral (IUML), École Centrale de Nantes (ECN)-Université de Nantes (UN)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Le Mans Université (UM)-Université de Bretagne Sud (UBS)-École Centrale de Nantes (ECN)-Université de Nantes (UN)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Le Mans Université (UM)-Université de Bretagne Sud (UBS), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), Université de Nantes (UN), chu bobigny, Université d'Angers (UA)-AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut National de l'Horticulture et du Paysage, FR 3473 Institut universitaire Mer et Littoral (IUML), Université de Bretagne Sud (UBS)-Le Mans Université (UM)-Université d'Angers (UA)-Centre National de la Recherche Scientifique (CNRS)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Université de Bretagne Sud (UBS)-Le Mans Université (UM)-Université d'Angers (UA)-Centre National de la Recherche Scientifique (CNRS)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Institut d'Économie et de Management de Nantes - Institut d'Administration des Entreprises - Nantes (IEMN-IAE Nantes), and Université de Nantes (UN)-Université de Nantes (UN)
Subjects: [SHS.SOCIO]Humanities and Social Sciences/Sociology, dépistage, diagnostic, annonce, expérience
Abstract: International audience; In what ways does biomedical technology such as systematic neonatal screening transform the process of announcing an incurable disease? This question is examined by means of a case study based on cystic fibrosis, a rare, lethal, genetically transmitted congenital disease with a variable and complex clinical expression and prognosis. In France, a systematic Neonatal Cystic Fibrosis Screening Programme (CF NBS) was instituted by the Public Authorities from 2002. This contribution aims at characterising the impact of neonatal screening on CF diagnosis through the announcement process. The study was conducted by questionnaire and interview among specialised care teams. The diagnosis is considered as a process; a sequence of events leading from presumption to proof that is progressively established during the course of the announcement process. This experience is examined from three different viewpoints: organisational, relational and technological. It reveals the paediatrician as orchestrator of the announcement process. In conclusion, the diagnostic process proves to be doubly revealing: the principle of clinical uncertainty in the diagnosis is shared by the parents, the neonate and the health professionals; the change in information content generated by2/19 neonatal screening results in a reorganisation of consultation practices and alters the way disease is experienced.; La mucoviscidose occupe, parmi les maladies génétiques rares, une place particulière par sa relative fréquence (1/4600 naissances) et sa complexité : son expression clinique et pronostique est extrêmement variable et progressive. Il en résulte que le pronostic individuel est difficilement prévisible au moment du diagnostic. A ce jour, il n'existe pas de traitement curatif de l'affection, les traitements sont symptomatiques ou préventifs et reposent essentiellement sur la prise en charge respiratoire, digestive et nutritionnelle. Pourtant, depuis 2002, les pouvoirs publics ont mis en place le dépistage néonatal systématique de la mucoviscidose (DNSM) en France (Vailly, 2006) afin que chaque enfant, pour lequel le diagnostic est confirmé, bénéficie d'une prise en charge immédiate selon un protocole de soins national. Néanmoins, l'instauration de ce dépistage de masse suscite encore de nombreuses controverses, notamment parce qu'il ne répond pas à l'ensemble des critères homologués par l'Organisation Mondiale de la Santé, ne conduisant pas à un « traitement efficace démontré » de la maladie. Ici se lit un bouleversement conséquent dans l'expérience professionnelle du médecin dont « l'objectif n'est plus de traiter au sens de guérir mais de gérer la maladie » (Baszanger, 1986, p. 17). Notre propos vise à rendre compte des répercussions engendrées par la mise en place du DNSM par les politiques publiques sur l'expérience professionnelle des médecins hospitaliers, et plus précisément d'une communauté spécialisée – celle des pédiatres en mucoviscidose 1 – en prêtant attention aux trois dimensions qui la traversent : la dimension organisationnelle, relationnelle et technique (Dubet, 1994). Autrement dit, quels rôles professionnels émergent dès lors que ces derniers n'interviennent plus auprès d'individus malades mais sont amenés à faire de la prévention auprès de populations pré-symptomatiques ? Pour y répondre, le processus d'annonce constitue une entrée analytique privilégiée en ce qu'il est désormais régulé par des recommandations visant une harmonisation des pratiques dans le cadre d'un dépistage de masse. Ce processus a cela d'exceptionnel qu'il revient, par un dévoilement plus ou moins progressif et plus ou moins long d'une anomalie génétique, à faire entrer un nourrisson asymptomatique dans le statut de malade, à énoncer la maladie à sa famille, quand bien même le traitement curatif est inexistant. Il met en jeu une pluralité de phases clefs, de structures, de professionnels, de micro-annonces, d'instants critiques, qu'il s'agit d'expliciter pour une vision élargie des bouleversements de l'expérience professionnelle des pédiatres (Figure 1, p. 17). La mise en place du DNSM agit directement sur la dimension organisationnelle de l'expérience professionnelle des pédiatres en mucoviscidose. D'abord parce qu'elle a
Published: 2012

20. Recherche en santé publique : où est le pilote ?

Author: Olivier Grimaud, Y. Charpak, Pierre Lombrail, École des Hautes Études en Santé Publique [EHESP] (EHESP), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), and Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM)
Subjects: Epidemiology, Political science, Recherche en santé publique, Public Health, Environmental and Occupational Health, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Humanities, ComputingMilieux_MISCELLANEOUS, 3. Good health
Abstract: O. Grimaud *, Y. Charpak , P. Lombrail d,e a Inserm, UMR_S 1136, equipe de recherche en epidemiologie sociale, institut Pierre-Louis d’epidemiologie et de sante publique, Paris, France b UPMC universite Paris 06, UMR_S 1136, equipe de recherche en epidemiologie sociale, Sorbonne universites, institut Pierre-Louis d’epidemiologie et de sante publique, Paris, France c EHESP, departement d’epidemiologie et de biostatistiques, Rennes, France d Societe francaise de sante publique (SFSP), Laxou, France e Sorbonne Paris Cite, universite Paris 13, Bobigny, France
Published: 2014

21. Facteurs de qualité de la prise en charge des sujets âgés opérés d’une fracture de l’extrémité supérieure du fémur

Author: P. Czernichow, V. Josset, François Gouin, G. Piétu, P. Chassagne, J. Petit, Véronique Merle, L. Pidhorz, F. Riou, Franck Dujardin, L. Moret, Pierre Lombrail, MethodS in Patients-centered outcomes and HEalth ResEarch (SPHERE), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR des Sciences Pharmaceutiques et Biologiques, Université de Nantes (UN)-Université de Nantes (UN), Centre hospitalier universitaire de Nantes (CHU Nantes), Genexpress, Centre National de la Recherche Scientifique (CNRS), Department of Medical Oncology [Lyon], Centre Léon Bérard [Lyon], Service de médecine gériatrique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-CHU Bois Guiilaume, Normandie Université (NU), Centre de Ressources et de Compétences de la Mucoviscidose (CRCM), Centre de Perharidy-Cellule de Coordination du Réseau Mucoviscidose (CECOREM), and Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR des Sciences Pharmaceutiques et Biologiques
Subjects: 03 medical and health sciences, 0302 clinical medicine, business.industry, [SDV]Life Sciences [q-bio], Medicine, Orthopedics and Sports Medicine, Surgery, 030212 general & internal medicine, General Medicine, 030204 cardiovascular system & hematology, business, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2004

22. Correspondence: serum neutralization of SARS-CoV-2 Omicron sublineages BA.1, BA.2 and BA.5 in lung transplant recipients receiving prophylactic tixagevimab/cilgavimab.

Author: Eldin C, Nurtop E, Coiffard B, Colombini N, Ninove L, Priet S, Barthélémy K, Reynaud-Gaubert M, and de Lamballerie X
Published: 2024
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23. Early chest CT abnormalities to predict the subsequent occurrence of chronic lung allograft dysfunction.

Author: Habert P, Chetrit E, Coiffard B, Bregeon F, Thomas P, Loundou A, Bermudez J, Reynaud-Gaubert M, and Gaubert JY
Abstract: Introduction: Chronic lung allograft dysfunction (CLAD) can take two forms: bronchiolitis obliterans syndrome (BOS) or restrictive allograft syndrome (RAS). The aim was to determine if chest-CT abnormalities after lung transplantation (LTx) could predict CLAD before respiratory functional deterioration., Materials and Methods: This monocentric retrospective study analyzed consecutive patients who underwent LTx from January 2015 to December 2018. Initial CT post-LTx (CTi) and a follow-up CT at least 9 months post-LTx (CTf) were reviewed. CLAD was defined as a persistent respiratory functional decline (> 20% of basal FEV 1 ) outside acute episode. A Cox regression was performed in univariate, then in multivariate analysis (including features with p < 0.01 in univariate or of clinical importance) to determine risk factors for CLAD. Subgroup analyses were made for BOS, RAS, and death., Results: Among 118 LTx patients (median (min-max) 47 (18-68) years), 25 developed CLAD during follow-up (19 BOS). The median time to CLAD since LTx was 570 days [150-1770]. Moderate pulmonary artery stenosis (30-50%) was associated with the occurrence of CLAD on CTi (hazard ratio HR = 4.6, CI [1.6-13.2]) and consolidations and pleural effusion on CTf (HR = 2.6, CI [1.3-4.9] and HR = 4.5, CI [1.5-13.6] respectively). The presence of mosaic attenuation (HR = 4.1, CI [1.4-12.5]), consolidations (HR = 2.6, CI [1.3-5.4]), and pleural effusions (p = 0.01, HR = 5.7, CI [1.4-22.3]) were risk factors for BOS on CTf. The consolidations (p = 0.029) and pleural effusions (p = 0.001) were risk factors for death on CTf., Conclusions: CTi and CTf in the monitoring of LTx patients could predict CLAD. Moderate pulmonary artery stenosis, mosaic pattern, parenchyma condensations, and pleural effusions were risk factors for CLAD., Critical Relevance Statement: There is a potential predictive role of chest CT in the follow-up of LTx patients for chronic lung allograft dysfunction (CLAD). Early chest CT should focus on pulmonary artery stenosis (risk factor for CLAD in this study). During the follow-up (at least 9 months post-LTx), parenchymal consolidations and pleural effusions were shown to be risk factors for CLAD, and death in subgroup analyses., Key Points: • Pulmonary artery stenosis (30-50%) on initial chest-CT following lung transplantation predicts CLAD HR = 4.5; CI [1.6-13.2]. • Pleural effusion and consolidations 1 year after lung transplantation predict CLAD and death. • Early evaluation of lung transplanted patients should evaluate pulmonary artery anastomosis., (© 2023. European Society of Radiology (ESR).)
Published: 2023
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24. The gut-lung axis in the CFTR modulator era.

Author: Lussac-Sorton F, Charpentier É, Imbert S, Lefranc M, Bui S, Fayon M, Berger P, Enaud R, and Delhaes L
Subjects: Humans, Bacteria, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Lung, Cystic Fibrosis drug therapy, Microbiota, Dysbiosis microbiology
Abstract: The advent of CFTR modulators represents a turning point in the history of cystic fibrosis (CF) management, changing profoundly the disease's clinical course by improving mucosal hydration. Assessing changes in airway and digestive tract microbiomes is of great interest to better understand the mechanisms and to predict disease evolution. Bacterial and fungal dysbiosis have been well documented in patients with CF; yet the impact of CFTR modulators on microbial communities has only been partially deciphered to date. In this review, we aim to summarize the current state of knowledge regarding the impact of CFTR modulators on both pulmonary and digestive microbiomes. Our analysis also covers the inter-organ connections between lung and gut communities, in order to highlight the gut-lung axis involvement in CF pathophysiology and its evolution in the era of novel modulators therapies., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Lussac-Sorton, Charpentier, Imbert, Lefranc, Bui, Fayon, Berger, Enaud and Delhaes.)
Published: 2023
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25. Angiographic and histopathological study on bronchial-to-pulmonary vascular anastomoses on explants from patients with cystic fibrosis after bronchial artery embolisation.

Author: Habert P, Puech B, Coiffard B, Secq V, Thomas P, Bec R, Vidal V, Mancini J, Bermudez J, Reynaud-Gaubert M, and Gaubert JY
Subjects: Male, Humans, Adult, Bronchial Arteries diagnostic imaging, Hemoptysis diagnosis, Hemoptysis etiology, Hemoptysis therapy, Angiography adverse effects, Retrospective Studies, Treatment Outcome, Cystic Fibrosis complications, Cystic Fibrosis therapy, Embolization, Therapeutic adverse effects
Abstract: Labelled Background: Haemoptysis is a life-threatening complication of cystic fibrosis (CF). One treatment is bronchial artery embolisation (BAE) using embolic-microspheres (EMs). During BAE, pulmonary arteries can be seen on digital subtracted angiography while iodine containing contrast material injection is performed in the bronchial artery. This suggests that EMs could go from bronchial to nontarget pulmonary arteries. The aim was to evaluate if EMs could be found inside pulmonary arteries on lung explants after BAE in transplanted CF patients., Methods: Retrospective observational study including patients with CF who underwent lung transplantation and had previously needed BAE. Clinical, chest CT angiography, and angiographic data were reviewed from medical records. Pathology examination of lung explants was performed to analyze the EMs anatomical localisation., Results: Eight patients were included between 2013 and 2015, four males with a mean age of 29 (19-45) years. All patients had bronchial artery hypertrophy on CT and bronchial-to-pulmonary artery shunting during BAE. On pathology examination, EM ≤800 µm were found in the pulmonary arteries in all patients and were responsible for distal branch occlusions. Two pulmonary infarcts were observed on CT angiography after BAE and confirmed histopathologically., Conclusions: EM migration from the bronchial to pulmonary arteries is a common occurrence after BAE in patients with advanced stage CF. Although BAE is a highly effective means of controlling haemoptysis in CF, studies on the optimal particle size are needed to preserve pulmonary artery circulation, because these results suggest that low size EMs could lead to nontarget embolisation., Competing Interests: Declaration of Competing Interest None., (Copyright © 2022. Published by Elsevier B.V.)
Published: 2022
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26. Chest computed tomography improvement in patients with cystic fibrosis treated with elexacaftor-tezacaftor-ivacaftor: Early report.

Author: Bec R, Reynaud-Gaubert M, Arnaud F, Naud R, Dufeu N, Di Bisceglie M, Coiffard B, Gaubert JY, Bermudez J, and Habert P
Subjects: Adult, Aminophenols, Benzodioxoles, Humans, Indoles, Mutation, Pyrazoles, Pyridines, Pyrrolidines, Quinolones, Reproducibility of Results, Retrospective Studies, Tomography, X-Ray Computed methods, Cystic Fibrosis diagnostic imaging, Cystic Fibrosis drug therapy
Abstract: Rationale and Objectives: Cystic fibrosis transmembrane conductance regulator (CFTR) modulators have revolutionised the treatment of cystic fibrosis (CF). Chest computed tomography (CT) is key in the diagnosis and follow-up of anatomical damage to the lungs. Our study aimed to evaluate changes on lung CT scans of patients with CF after receiving elexacaftor-tezacaftor-ivacaftor (ETI) therapy for one year., Materials and Methods: We conducted a retrospective, observational, single-centre study between 2018 and 2021 on adult patients with CF administered ETI. We reviewed chest CT scans before and at least one year after starting ETI. The Brody-II score (BSII) was measured by two experienced radiologists who were blinded to the treatment. Paranasal sinus CT scans and clinical and functional data were also compared. Wilcoxon tests were used to compare differences, and Spearman's correlation coefficient was used to evaluate changes in forced expiratory volume in one second (FEV 1 ) and total BSII., Results: In the period, 63 patients were given ETI, and 12 met the criteria for analysis. The inter-observer reproducibility of BSII was satisfactory (intraclass correlation coefficient = 0.83, 95% confidence interval 0.57-0.91). The BSII decreased after one year of treatment (-18 ± 16, p = 0.002) due to lower mucous plugging (-7 ± 4, p < 0.001) and peribronchial thickening (-9 ± 10, p = 0.002) scores. Bronchial, parenchymal, and hyperinflation scores were unchanged. Clinical and functional parameters were significantly improved, except for total lung capacity. The correlation between ΔFEV 1 and Δtotal BSII was strong (r = 0.88, p < 0.001). The paranasal sinus CT score significantly improved with ETI treatment., Conclusions: ETI decreased pulmonary and sinus morphological abnormalities after one year of treatment., (Copyright © 2022 Elsevier B.V. All rights reserved.)
Published: 2022
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27. Computed Tomographic Changes in Patients with Cystic Fibrosis Treated by Combination Therapy with Lumacaftor and Ivacaftor.

Author: Arnaud F, Stremler-Le Bel N, Reynaud-Gaubert M, Mancini J, Gaubert JY, and Gorincour G
Abstract: Background: As Cystic Fibrosis (CF) treatments drastically improved in recent years, tools to assess their efficiency need to be properly evaluated, especially cross-sectional imaging techniques. High-resolution computed tomography (HRCT) scan response to combined lumacaftor- ivacaftor therapy (Orkambi ® ) in patients with homozygous for F508del CFTR has not yet been assessed., Methods: We conducted a retrospective observational study in two French reference centers in CF in Marseille hospitals, including teenagers (>12 years old) and adults (>18 years) who had received lumacaftor-ivacaftor and for whom we had at disposal at least two CT scans, one at before therapy and one at least six months after therapy start. CT scoring was performed by using the modified version of the Brody score., Results: 34 patients have been included. The mean age was 26 years (12-56 years). There was a significant decrease in the total CT score (65.5 to 60.3, p = 0.049) and mucous plugging subscore (12.3 to 8.7, p = 0.009). Peribronchial wall thickening (PWT) was significantly improved only in the adult group (29.1 to 27.0, p = 0.04). Improvements in total score, peribronchial thickening, and mucous pluggings were significantly correlated with improvement in FEV1 (forced expiratory volume in 1 s)., Conclusions: Treatment with lumacaftor-ivacaftor was associated with a significant improvement in the total CT score, which was mainly related to an improvement in mucous pluggings.
Published: 2021
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28. Development and validation of the Cystic Fibrosis Decisional Balance for Physical Activity scale (CF-DB-PA).

Author: Filleul V, Ladune R, Gruet M, Falzon C, Fuchs A, Mély L, Hayotte M, Vallier JM, Giovannetti P, Ramel S, Vuillemin A, Corrion K, and d'Arripe-Longueville F
Subjects: Adult, Cystic Fibrosis rehabilitation, Factor Analysis, Statistical, Female, France, Humans, Male, Psychometrics methods, Quality of Life, Reproducibility of Results, Young Adult, Cystic Fibrosis psychology, Exercise psychology, Patient Acceptance of Health Care psychology, Surveys and Questionnaires
Abstract: Background: People with cystic fibrosis (pwCF) derive several physiological and psychological benefits from regular physical activity (PA), but the practice is lower than recommended. Knowledge about the facilitators of and barriers to PA at the individual level is important to act positively on PA behaviors. This study validated the Cystic Fibrosis Decisional Balance for Physical Activity scale (CF-DB-PA) for adults with CF., Methods: French adults with CF were recruited in several specialist centres in France. The CF-DB-PA scale was validated following a quantitative study protocol comprising four stages: (1) tests of the clarity and relevance of a preliminary 44-item version and reduction analysis, (2) confirmatory factor analysis and tests of dimensionality through equation modelling analysis, (3) tests of reliability with Cronbach alphas for the internal consistency and a test-retest with a 2-to-3 week interval for temporal stability, and 4) tests of construct validity with Spearman correlations to measure the associations between each subscale and the theoretically related constructs (i.e., quality of life, PA and exercise tolerance)., Results: A total of 201 French adults with CF participated in the validation study. The CF-DB-PA comprises 23 items divided into two factors: facilitators of and barriers to PA. Each factor is divided into three subscales: physical, psychological and environmental. The factors (facilitators and barriers) can be used independently or combined as a whole. A general score of decisional balance for PA can also be calculated. The bi-factor model presented satisfactory adjustment indexes: χ 2 (194) = 362.33; p < .001; TLI = .87; CFI = .90; RMSEA = .067. The scale showed satisfactory internal consistency (Cronbach's α = .77). The test-retest reliability was not significant for either subscale, indicating stability over time. The facilitators subscale correlated significantly with the self-reported score of PA (r = .33, p < .01) and quality of life (r = .24, p < .05). The barriers subscale correlated significantly with the self-reported scores of PA (r = - .42, p > .01), quality of life (r = - .44, p < .01), exercise tolerance (r = - .34, p < .01) and spirometry tests (r = - .30, p < .05)., Conclusions: The CF-DB-PA is a reliable and valid questionnaire assessing the decisional balance for PA, the facilitators of and the barriers to PA for adults with CF in French-speaking samples.
Published: 2021
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29. Investigation of Stenotrophomonas maltophilia epidemiology in a French cystic fibrosis center.

Author: Capaldo C, Beauruelle C, Saliou P, Rault G, Ramel S, and Héry-Arnaud G
Subjects: Adolescent, Adult, Child, Cohort Studies, Cystic Fibrosis complications, Cystic Fibrosis microbiology, Female, France epidemiology, Gram-Negative Bacterial Infections complications, Humans, Male, Prevalence, Respiratory Tract Infections complications, Respiratory Tract Infections epidemiology, Respiratory Tract Infections microbiology, Retrospective Studies, Young Adult, Cystic Fibrosis epidemiology, Gram-Negative Bacterial Infections epidemiology, Stenotrophomonas maltophilia isolation & purification
Abstract: Background: Stenotrophomonas maltophilia is an emerging opportunistic pathogen. The increasing incidence is of particular concern in patients with cystic fibrosis (CF). Since 2012, the Western France has witnessed high annual prevalence of S. maltophilia colonization/infection. This retrospective cohort study investigated the epidemiology of S. maltophilia emergence in the CF center of Roscoff, Western France, a region of high prevalence of CF in Europe., Methods: All CF patients with S. maltophilia isolated in respiratory samples between December 2013 and February 2017 were included. For each patient the colonization status with S. maltophilia was determined. The epidemiological and microbiological characteristics collected were compared between colonization statuses., Results: S. maltophilia was isolated in 90 patients (42 males, 48 females). Mean age at first colonization was 24.4±13.5 years. Annual prevalence since 2013 was high (16-17.9%), but stable. This high prevalence is mainly due to a high rate of intermittent colonization. Only 2.8% of CF patients showed chronic colonization, with significantly more frequent co-colonization by methicillin-susceptible Staphylococcus aureus (P<0.0001) and Pseudomonas aeruginosa (P<0.05). During chronic colonization, S. maltophilia acquired resistance to cotrimoxazole and β-lactams. Interestingly, there were cases of decolonization., Conclusion: This is the first epidemiological report of S. maltophilia in a French CF center. Prevalence was stable but above the national average. Most cases were intermittent; chronic colonization was rare., (Copyright © 2020 SPLF and Elsevier Masson SAS. All rights reserved.)
Published: 2020
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30. Population pharmacokinetics of ceftazidime in critically ill children: impact of cystic fibrosis.

Author: Bui S, Facchin A, Ha P, Bouchet S, Leroux S, Nacka F, Fayon M, and Jacqz-Aigrain E
Subjects: Anti-Bacterial Agents therapeutic use, Child, Chromatography, Liquid, Critical Illness, Humans, Microbial Sensitivity Tests, Monte Carlo Method, Tandem Mass Spectrometry, Ceftazidime, Cystic Fibrosis complications, Cystic Fibrosis drug therapy
Abstract: Background: Pharmacokinetics data on ceftazidime are sparse for the paediatric population, particularly for children with cystic fibrosis (CF) or severe infections., Objectives: To characterize the population pharmacokinetics of ceftazidime in critically ill children, identify covariates that affect drug disposition and evaluate the current dosing regimens., Methods: The study was registered with Clinicaltrials.gov (NCT01344512). Children receiving ceftazidime were selected in 13 French hospitals. Plasma concentrations were determined by UPLC-MS/MS. Population pharmacokinetic analyses were performed using NONMEN software., Results: One hundred and eight patients, aged 28 days to 12 years, with CF (n = 32), haematology and/or oncology disorders (n = 47) or severe infection (n = 29) were included. Ceftazidime was administered by continuous or intermittent infusions; 271 samples were available for analysis. A two-compartment model with first-order elimination and allometric scaling was developed and covariate analysis showed that ceftazidime pharmacokinetics were also significantly affected by CLCR and CF. Ceftazidime clearance was 82% higher in CF than in non-CF patients. Monte Carlo simulations showed that the percentage of target attainment (PTA) for the target of T>MIC = 65% was (i) lower in CF than in non-CF children with intermittent infusions and (ii) higher with continuous than intermittent infusion in all children., Conclusions: The population pharmacokinetics model for ceftazidime in children was influenced by body weight, CLCR and CF. A higher PTA was obtained with continuous versus intermittent infusions. Further studies should explore the benefits of continuous versus intermittent infusion of ceftazidime, including current versus increased doses in CF children., (© The Author(s) 2020. Published by Oxford University Press on behalf of the British Society for Antimicrobial Chemotherapy. All rights reserved. For permissions, please email: journals.permissions@oup.com.)
Published: 2020
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31. High airborne level of Aspergillus fumigatus and presence of azole-resistant TR 34 /L98H isolates in the home of a cystic fibrosis patient harbouring chronic colonisation with azole-resistant H285Y A. fumigatus.

Author: Paluch M, Lejeune S, Hecquet E, Prévotat A, Deschildre A, and Fréalle E
Subjects: Adolescent, Drug Resistance, Fungal, Environmental Exposure analysis, Environmental Exposure prevention & control, Humans, Male, Treatment Outcome, Air Pollution, Indoor analysis, Air Pollution, Indoor prevention & control, Antifungal Agents administration & dosage, Antifungal Agents adverse effects, Antifungal Agents classification, Aspergillosis, Allergic Bronchopulmonary diagnosis, Aspergillosis, Allergic Bronchopulmonary etiology, Aspergillosis, Allergic Bronchopulmonary therapy, Aspergillus fumigatus drug effects, Aspergillus fumigatus isolation & purification, Azoles pharmacology, Cystic Fibrosis microbiology, Cystic Fibrosis physiopathology, Cystic Fibrosis therapy
Abstract: Azole-resistant Aspergillus fumigatus (ARAF) has been reported in the domestic environment of patients at risk for aspergillosis. Here, we assessed the mother's and father's homes of an 18-year-old cystic fibrosis patient harbouring chronic colonisation with H285Y CYP51A azole-resistant isolate, in order to explore the link between environmental exposure and ARAF infection. In one dwelling, a very high overall contamination level was found (710-7.240 CFU/m 3 ), with a predominance of A. fumigatus (640-6.490 CFU/m 3 ), and ARAF showing the TR 34 /L98H mutation was isolated. Mycological follow-up of the patient showed the persistence of H285Y isolates, but no acquisition of TR 34 /L98H isolates was observed. This could be due to the low proportion of TR 34 /L98H isolates (<3%), or the establishment of preventative measures and dwelling remediation taken after the environmental investigation. Our data underlines the value of an environmental assessment to establish preventative measures and limit the risk of A. fumigatus exposure and ARAF acquisition., (Copyright © 2019. Published by Elsevier B.V.)
Published: 2019
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32. Carriage of a Single Strain of Nontoxigenic Corynebacterium diphtheriae bv. Belfanti ( Corynebacterium belfantii ) in Four Patients with Cystic Fibrosis.

Author: Pivot D, Fanton A, Badell-Ocando E, Benouachkou M, Astruc K, Huet F, Amoureux L, Neuwirth C, Criscuolo A, Aho S, Toubiana J, and Brisse S
Subjects: Adult, Anti-Bacterial Agents pharmacology, Corynebacterium diphtheriae drug effects, Corynebacterium diphtheriae genetics, Cystic Fibrosis complications, Cystic Fibrosis epidemiology, Diphtheria epidemiology, Diphtheria microbiology, Female, France, Humans, Male, Whole Genome Sequencing, Asymptomatic Infections, Corynebacterium diphtheriae isolation & purification, Cystic Fibrosis microbiology, Diphtheria transmission
Abstract: Cystic fibrosis (CF) patients are commonly colonized by bacterial pathogens, which can induce persistent lung inflammation and may contribute to clinical deterioration. Colonization of CF patients and cross-transmission by Corynebacterium diphtheriae have not been reported so far. The aim of this article was to investigate the possibility of a cross-transmission of C. diphtheriae biovar Belfanti between four patients of a CF center. C. diphtheriae biovar Belfanti (now formally called C. belfantii ) isolates were collected from four patients in a single CF care center over a period of 6 years and analyzed by microbiological methods and whole-genome sequencing. Epidemiological links among patients were investigated. Ten isolates were collected from 4 patients. Whole-genome sequencing of one isolate from each patient showed that a single strain was shared among them. In addition, one patient was found to have the same strain in two consecutive samplings performed 9 months apart. The strain was nontoxigenic and was susceptible to most antimicrobial agents. Ciprofloxacin resistance was observed in one patient. The idea of transmission of the strain among patients was supported by the occurrence of same-day visits to the CF center. This study demonstrated colonization of CF patients by C. diphtheriae biovar Belfanti ( C. belfantii ), and the data suggest persistence and transmission of a unique strain during at least 6 years in a single CF patient care center., (Copyright © 2019 American Society for Microbiology.)
Published: 2019
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33. Prevalence of Fecal Incontinence in Adults with Cystic Fibrosis.

Author: Benezech A, Desmazes-Dufeu N, Baumstarck K, Bouvier M, Coltey B, Reynaud-Gaubert M, and Vitton V
Subjects: Adult, Age Factors, Female, Health Status, Humans, Male, Prevalence, Retrospective Studies, Risk Factors, Severity of Illness Index, Surveys and Questionnaires, Urinary Incontinence epidemiology, Young Adult, Cystic Fibrosis complications, Fecal Incontinence epidemiology
Abstract: Background: Patients with cystic fibrosis (CF) are deemed at risk of developing urinary incontinence (UI) due to repeated coughing and other factors causing increased pressure on the pelvic floor. Fecal incontinence (FI) is probably derived from the same mechanism, but only very few data are available on its frequency., Aims: The aim of this study was to determine the prevalence of FI in an adult population with CF., Methods: This retrospective study was conducted from January 2012 to June 2014. Patients were recruited from Marseille referral center for adult CF. They were asked to fill in a self-completed anonymous questionnaire for symptom assessment of UI and FI. Clinical data and a detailed history of CF were also recorded., Results: A total of 155 out of 190 patients (92 females) of mean age 30.5 ± 11 years completed the survey. Seventy-three patients (47%) were lung transplanted. Forty patients (25.8%) reported FI with a mean St Mark's score of 4.9 ± 2. Thirty-five patients (22.6%) reported UI. Eighteen patients (11.6%) reported both FI and UI. FI was significantly more frequent in older patients (34.27 vs. 29.54 years, p = 0.03) and in patients with associated UI (p = 0.001). No relationship was found between respiratory, bacterial, nutritional status, transplantation, pancreatic status, practice of physiotherapy, delivery history, and FI., Conclusions: The high prevalence of FI in CF and its negative impacts need to integrate this symptom in the overall treatment of this pathology. The systematic early detection of FI may allow its rapid management and limit their consequences.
Published: 2018
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34. [Influenza vaccination and cystic fibrosis. Impact of an incentivisation campaign about influenza vaccination for patients attending the Dunkerque cystic fibrosis treatment centre and their health care workers].

Author: Scalbert-Dujardin M, Boldron A, Leroy E, Bazin J, and Froment-Leclercq E
Subjects: Adolescent, Adult, Aged, Attitude of Health Personnel, Child, Child, Preschool, Female, France epidemiology, Health Personnel psychology, Health Promotion methods, Health Promotion standards, Humans, Influenza, Human epidemiology, Male, Middle Aged, Surveys and Questionnaires, Tertiary Care Centers statistics & numerical data, Young Adult, Cystic Fibrosis epidemiology, Cystic Fibrosis therapy, Health Personnel statistics & numerical data, Influenza Vaccines therapeutic use, Influenza, Human prevention & control, Patient Participation statistics & numerical data, Vaccination statistics & numerical data
Abstract: Introduction: The main aim of this study is to evaluate the effectiveness of preventive actions regarding influenza in the studied populations. The secondary objective is to analyze and understand the mechanisms which bring about a behavioural change regarding influenza vaccination., Methods: The interventional and prospective study was undertaken in the form of an anonymous questionnaire about influenza vaccination coverage and about the reasons for vaccinating or not vaccinating. The studied populations were patients followed for cystic fibrosis (n=67) in the Dunkerque cystic fibrosis treatment centre and their health care workers (n=117), before (April 2014) and after (April 2015) an information campaign and primary prevention actions (vaccination in the workplace with expanded time slots) in collaboration with the department of occupational medicine., Results: In 2015, the vaccination coverage rate of health care workers rose to 65.63%, that is to say 2.38 times more than in 2014 (27.55%). This difference is significant (χ 2 [1]=29.17, P<0.0001). However, no significant difference between 2014 and 2015 was observed among patients (children and adults) (χ 2 [1]=0.24, NS) whose vaccination coverage was already optimal before the study., Conclusions: Raising awareness among health care workers about vaccination against influenza increases the coverage rate and decreases outbreaks of virus infection in the care services and among patients at risk. Three main levers were identified: the necessity of providing information on influenza vaccination to health care workers, the ease of vaccination access and the attitude towards vaccination of supervisory staff (health executives/doctors)., (Copyright © 2017 SPLF. Published by Elsevier Masson SAS. All rights reserved.)
Published: 2018
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35. Absence of calf muscle metabolism alterations in active cystic fibrosis adults with mild to moderate lung disease.

Author: Decorte N, Gruet M, Camara B, Quetant S, Mely L, Vallier JM, Verges S, and Wuyam B
Subjects: Adult, Exercise Test methods, Exercise Tolerance, Female, Humans, Magnetic Resonance Spectroscopy methods, Male, Oxygen Consumption, Patient Acuity, Statistics as Topic, Cystic Fibrosis complications, Cystic Fibrosis diagnosis, Cystic Fibrosis physiopathology, Energy Metabolism, Lower Extremity physiopathology, Lung Diseases etiology, Lung Diseases physiopathology, Muscle, Skeletal metabolism, Muscle, Skeletal physiopathology
Abstract: Background: Specific alterations in skeletal muscle related to genetic defects may be present in adults with cystic fibrosis (CF). Limb muscle dysfunction may contribute to physical impairment in CF., Aims and Objectives: We hypothesized that adults with CF would have altered calf muscle metabolism during exercise., Methods: Fifteen adults with CF and fifteen healthy controls matched for age, gender and physical activity performed a maximal cycling test and an evaluation of calf muscle energetics by 31 P magnetic resonance spectroscopy before, during and after plantar flexions to exhaustion., Results: Maximal cycling test revealed lower exercise capacities in CF (VO 2peak 2.44±0.11 vs. 3.44±0.23L·Min -1 , P=0.03). At rest, calf muscle phosphorus metabolites and pHi were similar in CF and controls (P>0.05). Maximal power output during plantar flexions was significantly lower in CF compared to controls (7.8±1.2 vs. 6.6±2.4W; P=0.013). At exhaustion, PCr concentration was similarly reduced in both groups (CF -33±7%, controls -34±6%, P=0.44), while PCr degradation at identical absolute workload was greater in CF patients (P=0.04). These differences disappeared when power output was normalized for differences in calf size (maximal power output: 0.10±0.02 vs. 0.10±0.03W/cm 2 ; P=0.87). Pi/PCr ratio and pHi during exercise as well as PCr recovery after exercise were similar between groups., Conclusion: Similar metabolic calf muscle responses during exercise and recovery were found in CF adults and controls. Overall, muscle anabolism rather than specific metabolic dysfunction may be critical regarding muscle function in CF., (Copyright © 2016. Published by Elsevier B.V.)
Published: 2017
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36. The 1-Minute Sit-to-Stand Test in Adults With Cystic Fibrosis: Correlations With Cardiopulmonary Exercise Test, 6-Minute Walk Test, and Quadriceps Strength.

Author: Gruet M, Peyré-Tartaruga LA, Mely L, and Vallier JM
Subjects: Adolescent, Adult, Female, Heart Rate, Humans, Male, Middle Aged, Oxygen Consumption, Posture, Quality of Life, Reproducibility of Results, Time Factors, Walk Test methods, Young Adult, Cystic Fibrosis physiopathology, Exercise Test methods, Exercise Tolerance physiology, Muscle Strength, Quadriceps Muscle physiopathology
Abstract: Background: Exercise testing is part of the regular assessment of patients with cystic fibrosis (CF). We aimed to evaluate (1) the convergent validity of the 1-min sit-to-stand (STS) test in CF by investigating its relationships with peak oxygen uptake (peak V̇ O 2 ), quadriceps strength, and quality of life and (2) to compare these associations with those of the 6-min walk test (6MWT)., Methods: Twenty-five adults with CF (FEV 1 = 59 ± 24%) performed the STS test, the 6MWT, quadriceps strength assessment, and cardiopulmonary exercise test (CPET). Physical activity level, quality of life, and self-esteem were assessed by questionnaires., Results: STS repetitions, 6-min walk distance, quadriceps strength, and peak V̇ O 2 were, respectively, 71 ± 12, 90 ± 10, 93 ± 29, and 62 ± 16% of predicted. The STS test had moderate associations with peak V̇ O 2 (r = 0.56, P = .004), quadriceps strength (r = 0.52, P = .008), and some questionnaire items (eg, perceived physical strength, r = 0.67, P < .001) only when repetitions were expressed as a product of body weight. Overall, these associations were weaker than those obtained from 6-min walk distance × weight. Oxygen desaturation during the STS test was strongly associated with oxygen desaturation during CPET (r = 0.80, P < .001). Peak heart rate was lower during the STS test as compared with CPET (P < .001) and the 6MWT (P = .009)., Conclusions: The STS test cannot be used as a replacement for CPET to accurately assess peak exercise capacity in CF. The STS test may have utility in detecting patients with CF who may exhibit a high level of oxygen desaturation during heavy exercise. Further studies should identify the factors contributing to STS performance to confirm the potential interest of STS repetitions × body weight outcome as a useful submaximal exercise parameter in CF., (Copyright © 2016 by Daedalus Enterprises.)
Published: 2016
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37. Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis.

Author: Viart V, Bergougnoux A, Bonini J, Varilh J, Chiron R, Tabary O, Molinari N, Claustres M, and Taulan-Cadars M
Subjects: 3' Untranslated Regions, Adult, Animals, Binding Sites, Bronchi metabolism, Cell Line, Cell Line, Tumor, Chromatin Immunoprecipitation, Cystic Fibrosis drug therapy, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Female, Gene Expression Profiling, Genes, Reporter, Humans, Male, Mice, Mutagenesis, Mutation, Oligonucleotides chemistry, Transcription Factors metabolism, Cystic Fibrosis metabolism, Cystic Fibrosis Transmembrane Conductance Regulator metabolism, Gene Expression Regulation, Developmental, MicroRNAs metabolism
Abstract: The CFTR gene displays a tightly regulated tissue-specific and temporal expression. Mutations in this gene cause cystic fibrosis (CF). In this study we wanted to identify trans-regulatory elements responsible for CFTR differential expression in fetal and adult lung, and to determine the importance of inhibitory motifs in the CFTR-3'UTR with the aim of developing new tools for the correction of disease-causing mutations within CFTR. We show that lung development-specific transcription factors (FOXA, C/EBP) and microRNAs (miR-101, miR-145, miR-384) regulate the switch from strong fetal to very low CFTR expression after birth. By using miRNome profiling and gene reporter assays, we found that miR-101 and miR-145 are specifically upregulated in adult lung and that miR-101 directly acts on its cognate site in the CFTR-3'UTR in combination with an overlapping AU-rich element. We then designed miRNA-binding blocker oligonucleotides (MBBOs) to prevent binding of several miRNAs to the CFTR-3'UTR and tested them in primary human nasal epithelial cells from healthy individuals and CF patients carrying the p.Phe508del CFTR mutation. These MBBOs rescued CFTR channel activity by increasing CFTR mRNA and protein levels. Our data offer new understanding of the control of the CFTR gene regulation and new putative correctors for cystic fibrosis., (Copyright ©ERS 2015.)
Published: 2015
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38. [Therapeutic education and mucoviscidosis, example of an individual session].

Author: Carde E
Subjects: Adolescent, Child, Cooperative Behavior, Curriculum, Female, France, Humans, Interdisciplinary Communication, Caregivers education, Cystic Fibrosis nursing, Patient Care Team organization & administration, Patient Education as Topic organization & administration
Published: 2011

39. [Place for implantable catheters, results of an audit of knowledge of private homecare nurses].

Author: Dupont C and Kriegel I
Subjects: Catheters, Indwelling statistics & numerical data, Equipment Design, Humans, Nursing Audit, Catheters, Indwelling standards, Nursing Care standards
Published: 2010

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