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1. Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

Author: Ségolène Veau, Gilles Schuler, Aline Papaxanthos, Julien Bessonnat, Marine Poulain, H. Lejeune, Laurent Pasquier, Rosalie Cabry, Raoudha Zouari, Amandine Septier, Flore Mietton, Myriam Chaabouni, Vincent Achard, Zine-Eddine Kherraf, Charles Coutton, Antoine Clergeau, Dominique Lauton, Christophe Sifer, Béatrice Dorphin, Catherine Guillemain, Mahmoud Kharouf, Tristan Celse, Sebti Benbouhadja, Nathalie Sermondade, Selima Fourati Ben Mustapha, Pierre F. Ray, Delphine Martinez, Bernard Foliguet, Julie Beurois, Valérie Mitchell, Guillaume Martinez, Abdelali Zoghmar, Véronique Satre, Ahmed Chargui, Gérard Tachdjian, Cynthia Frapsauce, Chema Triki, Sylviane Hennebicq, Jacques Puechberty, Caroline Cazin, Christophe Arnoult, Nicolas Thierry-Mieg, Lionel Mery, Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Centre Hospitalier Universitaire [Grenoble] (CHU), Biologie Computationnelle et Modélisation (TIMC-BCM ), Translational Innovation in Medicine and Complexity / Recherche Translationnelle et Innovation en Médecine et Complexité - UMR 5525 (TIMC ), 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)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA)-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)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Service Endocrinologie - Diabétologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Polyclinique les Jasmins [Tunis], CHU Ibn Rochd [Casablanca], Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Bordeaux [Bordeaux], Laboratoire d’Aide Médicale à la Procréation [CH Alpes-Léman] (AMP 74), Centre AMP 74 [Contamine-sur-Arve]-Centre Hospitalier Alpes-Léman - CHAL, Institut Jean Lamour (IJL), Université de Lorraine (UL)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Hôpital Jean Verdier [AP-HP], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Stabilité génétique, Cellules Souches et Radiations (SCSR (U_967)), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Hospices Civils de Lyon (HCL), Hôpital Arnaud de Villeneuve [CHRU Montpellier], CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Hôpital Foch [Suresnes], Gynécologie-obstétrique et médecine de la reproduction - Maternité [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Amiens-Picardie, Périnatalité et Risques Toxiques - UMR INERIS_I 1 (PERITOX), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de l'Environnement Industriel et des Risques, Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Assistance Publique - Hôpitaux de Marseille (APHM), Institut méditerranéen de biodiversité et d'écologie marine et continentale (IMBE), Avignon Université (AU)-Aix Marseille Université (AMU)-Institut de recherche pour le développement [IRD] : UMR237-Centre National de la Recherche Scientifique (CNRS), Institute for Advanced Biosciences, CR Inserm U1209, CNRS UMR5309, University Grenoble Alpes, Team « Génétique, Épigénétique et Thérapies de l'infertilité », Grenoble, France., CHU Grenoble Alpes, UM de GI-DPI, 38000 Grenoble, France, Biologie moléculaire et cellulaire de la différenciation, Université Joseph Fourier - Grenoble 1 (UJF)-Institut Albert Bonniot-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Grenoble, UM de Génétique Chromosomique, Biologie Computationnelle et Mathématique (TIMC-BCM ), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC ), IMAG-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)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA)-IMAG-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)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Centre clinicobiologique d’AMP, pôle femmes–Parents-Enfants, hôpital de La Conception, AP–HM, 147, boulevard Baille, 13005 Marseille, France, Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiologie de la reproduction et des comportements [Nouzilly] (PRC), Centre National de la Recherche Scientifique (CNRS)-Université de Tours-Institut Français du Cheval et de l'Equitation [Saumur]-Institut National de la Recherche Agronomique (INRA), CHU Cochin [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Obstetrics and Gynecology, University Hospital Bordeaux, Bordeaux, France., Partenaires INRAE, Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), University Hospital of Montpellier, Service d'histologie, embryologie et cytogénétique [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], CH Sallanches, Service de Génétique [CHU Montpellier] (Hôpital Arnaud de Villeneuve), Hôpital Arnaud de Villeneuve-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Service de Génétique Clinique [CHU Rennes] (Réseau de Génétique et Génomique Médicale), Hôpitaux Universitaires du Grand Ouest, Service Gynécologie-Obstétrique et Médecine de la reproduction [Hôpital Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Bretonneau, CHU Lille, Université de Lille, Centre National de la Recherche Scientifique (CNRS)-Institut de recherche pour le développement [IRD] : UMR237-Aix Marseille Université (AMU)-Avignon Université (AU), Institut de Chimie du CNRS (INC)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Institut National de l'Environnement Industriel et des Risques (INERIS)-Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, and Centre Hospitalier Alpes-Léman - CHAL -Centre AMP 74 [Contamine-sur-Arve]
Subjects: Male, Candidate gene, Biology, Polymorphism, Single Nucleotide, Cohort Studies, Teratozoospermia, 03 medical and health sciences, symbols.namesake, Exome Sequencing, Genetics, Humans, Genetic Testing, Acrosome, Gene, Genetic Association Studies, Infertility, Male, Genetics (clinical), Globozoospermia, Loss function, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Sanger sequencing, 0303 health sciences, Homozygote, 030305 genetics & heredity, Membrane Proteins, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Spermatozoa, Phenotype, Human genetics, 3. Good health, Testicular Hormones, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, symbols, Gene Deletion
Abstract: International audience; Globozoospermia is a rare phenotype of primary male infertility inducing the production of round-headed spermatozoa without acrosome. Anomalies of DPY19L2 account for 50-70% of all cases and the entire deletion of the gene is by far the most frequent defect identified. Here, we present a large cohort of 69 patients with 20-100% of globozoospermia. Genetic analyses including multiplex ligation-dependent probe amplification, Sanger sequencing and whole-exome sequencing identified 25 subjects with a homozygous DPY19L2 deletion (36%) and 14 carrying other DPY19L2 defects (20%). Overall, 11 deleterious single-nucleotide variants were identified including eight novel and three already published mutations. Patients with a higher rate of round-headed spermatozoa were more often diagnosed and had a higher proportion of loss of function anomalies, highlighting a good genotype phenotype correlation. No gene defects were identified in patients carrying < 50% of globozoospermia while diagnosis efficiency rose to 77% for patients with > 50% of globozoospermia. In addition, results from whole-exome sequencing were scrutinized for 23 patients with a DPY19L2 negative diagnosis, searching for deleterious variants in the nine other genes described to be associated with globozoospermia in human (C2CD6, C7orf61, CCDC62, CCIN, DNAH17, GGN, PICK1, SPATA16, and ZPBP1). Only one homozygous novel truncating variant was identified in the GGN gene in one patient, confirming the association of GGN with globozoospermia. In view of these results, we propose a novel diagnostic strategy focusing on patients with at least 50% of globozoospermia and based on a classical qualitative PCR to detect DPY19L2 homozygous deletions. In the absence of the latter, we recommend to perform whole-exome sequencing to search for defects in DPY19L2 as well as in the other previously described candidate genes.
Published: 2021

2. Immunogenicity and reactogenicity of heterologous and homologous mRNA-1273 and BNT162b2 vaccination: A multicenter non-inferiority randomized trial

Author: Cécile Janssen, Marine Cachanado, Laetitia Ninove, Marie Lachatre, Jocelyn Michon, Olivier Epaulard, Zoha Maakaroun-Vermesse, Christian Chidiac, Bruno Laviolle, Hugues Aumaitre, Ady Assaf, Karine Lacombe, Catherine Schmidt-Mutter, Elisabeth Botelho-Nevers, Magali Briere, Thomas Boisson, Paul Loubet, Boris Bienvenu, Olivier Bouchaud, Amel Touati, Christine Pereira, Alexandra Rousseau, Laurence Berard, Melissa Montil, Xavier de Lamballerie, Tabassome Simon, Odile Launay, Centre Hospitalier Annecy-Genevois [Saint-Julien-en-Genevois], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre d'investigation clinique Paris Est [CHU Pitié Salpêtrière] (CIC Paris-Est), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Unité des Virus Emergents (UVE), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CIC Cochin Pasteur (CIC 1417), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu-Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre d'Investigation Clinique [Grenoble] (CIC Grenoble), CHU Grenoble-Hôpital Michallon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Centre d’Investigation Clinique [Tours] CIC 1415 (CIC ), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de recherche en santé, environnement et travail (Irset), 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 ), CHU Pontchaillou [Rennes], Centre Hospitalier Saint Jean de Perpignan, Centre d’Infection et d’Immunité de Lille - INSERM U 1019 - UMR 9017 - UMR 8204 (CIIL), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CIC Strasbourg (Centre d’Investigation Clinique Plurithématique (CIC - P) ), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Nouvel Hôpital Civil de Strasbourg-Hôpital de Hautepierre [Strasbourg], Centre Hygée, CIC 1408 Inserm, Institut de cancérologie de la Loire Lucien Neuwirth, Inserm, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Centre Hospitalier Alpes Léman (CHAL), Virulence Bactérienne et Infections Chroniques (VBIC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hôpital Saint-Joseph [Marseille], Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), F-CRIN, Innovative clinical research network in vaccinology (I-REIVAC), French Ministries of Solidarity and Health and Research. BNT162b2 was provided by Pfizer/BioNTech. mRNA-1273 was provided by Moderna., Unité de Recherche Clinique de l’Est Parisien [CHU Saint-Antoine] (URC-EST), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO)-CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Direction de la Recherche Clinique et de l'Innovation [AP-HP] (DRCI), Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Jonchère, Laurent
Subjects: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], General Medicine
Abstract: International audience; BACKGROUND: Although effective mRNA vaccines for SARS-CoV-2 infection have been deployed worldwide, their interchangeability could facilitate the scale-up of vaccination programs. The objective of the trial was to assess whether the immune response induced by a heterologous SARS-CoV-2 mRNA primo vaccination is non-inferior to that of a homologous mRNA vaccination. METHODS: We conducted a multicenter, randomized, open-label trial in adults 18 years of age and older who received a first dose of SARS-CoV-2 mRNA vaccine. Participants were randomly assigned in a 1:1 ratio to receive a second dose of BNT162b2 or mRNA-1273, 28 to 49 days after the first dose. Randomization was stratified on the vaccine received at the first vaccination. The primary endpoint was the anti-spike IgG antibodies titer measured 28 days after the second vaccine dose. This study is registered with ClinicalTrials.gov, Trial, NCT04900467. FINDINGS: Of the 414 randomized participants recruited from May 28 to July 2, 2021, 390 were included in the per protocol analysis: 94 participants in group 1 (BNT162b2/BNT162b2), 96 in group 2 (BNT162b2/mRNA-1273), 97 in group 3 (mRNA-1273/mRNA-1273), and 103 in group 4 (mRNA-1273/BNT162b2). The geometric mean titers ratios of anti-spike IgG antibodies for each heterologous regimen relative to the corresponding homologous regimen were 1·37 (two-sided 95% CI, 1·10 to 1·72) in the groups 1 and 2 and 0·67 (two-sided 95% CI, 0·55 to 0·82) in the groups 3 and 4. Levels of neutralizing antibodies to the main circulating SARS-Cov-2 viral strains were higher with the vaccine regimen containing mRNA-1273. Participants who received mRNA-1273 as a second dose experienced a higher rate of local adverse reactions and general symptoms than those who received BNT162b2 (p
Published: 2022

3. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Author: Abdelkader Heddar, Cagri Ogur, Sabrina Da Costa, Inès Braham, Line Billaud-Rist, Necati Findikli, Claire Beneteau, Rachel Reynaud, Khaled Mahmoud, Stéphanie Legrand, Maud Marchand, Isabelle Cedrin-Durnerin, Adèle Cantalloube, Maeliss Peigne, Marion Bretault, Benedicte Dagher-Hayeck, Sandrine Perol, Celine Droumaguet, Sabri Cavkaytar, Carole Nicolas-Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier-LeMasle, Melanie Fradin, Elsa Le Boette, Perrine Luigi, Anne-Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anais Fauconnier, Nathalie Auger, Françoise Paris, Elise Brischoux-Boucher, Christelle Cabrol, Aurore Brun, Laura Guyon, Melanie Berard, Axelle Riviere, Nicolas Gruchy, Sylvie Odent, Brigitte Gilbert-Dussardier, Bertrand Isidor, Juliette Piard, Laetitia Lambert, Samir Hamamah, Anne Marie Guedj, Aude Brac de la Perriere, Hervé Fernandez, Marie-Laure Raffin-Sanson, Michel Polak, Hélène Letur, Sylvie Epelboin, Genevieve Plu-Bureau, Sławomir Wołczyński, Sylvie Hieronimus, Kristiina Aittomaki, Sophie Catteau-Jonard, Micheline Misrahi, Medicum, Research Programs Unit, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, Physiopathologie et traitement des maladies du foie, Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Nice (CHU Nice), Hôpital Cochin [AP-HP], Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Jean Verdier [AP-HP], Service d’endocrinologie et nutrition [AP-HP Ambroise-Paré], Hôpital Ambroise Paré [AP-HP], Unité de Gynécologie Médicale, AP-HP, Hôpital Port-Royal, Université de Paris, Service de médecine interne [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service d'endocrinologie [CHU Nice], CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU de Saint-Brieuc, Centre Hospitalier Antibes - Juan-les-Pins, Cancer and Brain Genomics (CBG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Centre Hospitalier de Mulhouse, site du Hasenrain (Mulhouse), CIC Saint Etienne, Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Nord (Saint Etienne), Institut Gustave Roussy (IGR), Génétique (Biologie pathologie), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Développement Embryonnaire, Fertilité et Environnement (DEFE), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de génétique clinique [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Centre de génétique humaine [CHRU Besançon], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Hôpital Foch [Suresnes], Centre hospitalier de Pau, CHU Lille, This study was supported by Université Paris Sud-Paris Saclay, Hôpitaux Universitaires Paris Saclay (AH, MM), the Institut National de la Santé et de la Recherche Médicale-INSERM (AH, MM), and by the Agence Nationale de Biomédecine (AH, MM)., Hôpital Bicêtre, Hôpital Paul Brousse, Yildiz Technical University (YTU), Aix Marseille Université (AMU), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Üsküdar university, Centre Hospitalier Alpes Léman (CHAL), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Université de Poitiers, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Université de Montpellier (UM), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Polyclinique de Navarre, Partenaires INRAE, Medical University of Białystok (MUB), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, and Université de Lille
Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics, Post-translational regulation, DNA repair genes, Mitophagy, 1184 Genetics, developmental biology, physiology, NF-kappa B, General Medicine, Nf-kb, Primary Ovarian Insufficiency, Personalized medicine, General Biochemistry, Genetics and Molecular Biology, Mitomycins, Meiosis, Molecular pathophysiology, Genetic, Infertility, Humans, Female, 3111 Biomedicine, Precision Medicine
Abstract: Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yield-ing infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unravel its molecular pathophysiology.Methods 375 patients with 70 families were studied using targeted (88 genes) or whole exome sequencing with pathogenic/likely-pathogenic variant selection. Mitomycin-induced chromosome breakages were studied in patients' lymphocytes if necessary. Findings A high-yield of 29.3% supports a clinical genetic diagnosis of POI. In addition, we found strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI: ELAVL2, NLRP11, CENPE, SPATA33, CCDC150, CCDC185, including DNA repair genes: C17orf53(HROB), HELQ, SWI5 yielding high chromo-somal fragility. We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously reported in isolated patients/families. In 8.5% of cases, POI is the only symptom of a multi-organ genetic disease. New pathways were identified: NF-kB, post-translational regulation, and mitophagy (mitochondrial autophagy), providing future therapeutic targets. Three new genes have been shown to affect the age of natural menopause supporting a genetic link.Interpretation We have developed high-performance genetic diagnostic of POI, dissecting the molecular pathogene-sis of POI and enabling personalized medicine to i) prevent/cure comorbidities for tumour/cancer susceptibility genes that could affect life-expectancy (37.4% of cases), or for genetically-revealed syndromic POI (8.5% of cases), ii) predict residual ovarian reserve (60.5% of cases). Genetic diagnosis could help to identify patients who may benefit from the promising in vitro activation-IVA technique in the near future, greatly improving its success in treating infertility.Funding Universite? Paris Saclay, Agence Nationale de Biome?decine.Copyright (c) 2022 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)
Published: 2022

4. Colorectal Cancer Survivors Suffering From Sensory Chemotherapy-Induced Peripheral Neuropathy Are Not a Homogenous Group: Secondary Analysis of Patients’ Profiles With Oxaliplatin-Induced Peripheral Neuropathy

Author: Nicolas Kerckhove, Marie Selvy, Céline Lambert, Coralie Gonneau, Gabrielle Feydel, Caroline Pétorin, Agnès Vimal-Baguet, Sergey Melnikov, Sharif Kullab, Mohamed Hebbar, Olivier Bouché, Florian Slimano, Vincent Bourgeois, Valérie Lebrun-Ly, Frédéric Thuillier, Thibault Mazard, David Tavan, Kheir Eddine Benmammar, Brigitte Monange, Mohamed Ramdani, Denis Péré-Vergé, Floriane Huet-Penz, Ahmed Bedjaoui, Florent Genty, Cécile Leyronnas, Jérôme Busserolles, Sophie Trévis, Vincent Pinon, Denis Pezet, David Balayssac, Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Microbes, Intestin, Inflammation et Susceptibilité de l'Hôte (M2iSH), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre de Recherche en Nutrition Humaine d'Auvergne (CRNH d'Auvergne)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Clermont Auvergne (UCA), CHU Clermont-Ferrand, Direction de la recherche clinique et de l’innovation [CHU Clermont-Ferrand] (DRCI), Institut Analgesia, Service de Chirurgie Digestive et Hépatobiliaire [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Centre Hospitalier Saint-Flour (CH Saint-Flour), Centre hospitalier Moulins-Yzeure [Moulins] (CH Moulins-Yzeure), Service d'oncologie médicale (CHRU Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Universitaire de Reims (CHU Reims), Biospectroscopie Translationnelle - EA 7506 (BIOSPECT), Université de Reims Champagne-Ardenne (URCA), Centre Hospitalier Boulogne-sur-mer, Service d'Oncologie médicale [CHU Limoges], CHU Limoges, Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Clinique de l'Infirmerie Protestante de Lyon (CIPL), Centre Hospitalier Emile Roux [Le Puy-en-Velay] (CH Le Puy-en-Velay), Centre Hospitalier de Béziers, Centre hospitalier Saint Joseph - Saint Luc [Lyon], Centre Hospitalier Alpes-Léman - CHAL, Centre Hospitalier Intercommunal Les Hôpitaux du Léman (CHI Les Hôpitaux du Léman), Centre Hospitalier de Vichy (CH Vichy), Groupe Hospitalier Mutualiste de Grenoble (GHM), Service Pharmacie [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], and CHU Clermont-Ferrand-CHU Louise Michel [Clermont-Ferrand]
Subjects: Oncology, medicine.medical_specialty, oxaliplatin, Colorectal cancer, colorectal cancer, RM1-950, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Internal medicine, Medicine, Pharmacology (medical), 030212 general & internal medicine, Original Research, Pharmacology, neuropathic pain, business.industry, Cancer, [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences, medicine.disease, 3. Good health, Oxaliplatin, Peripheral neuropathy, Chemotherapy-induced peripheral neuropathy, 030220 oncology & carcinogenesis, Cohort, Anxiety, Therapeutics. Pharmacology, medicine.symptom, business, medicine.drug, chemotherapy-induced peripheral neuropathy, cluster analysis
Abstract: International audience; Oxaliplatin, a pivotal drug in the management of colorectal cancer, causes chemotherapy-induced peripheral neuropathy (CIPN) in a third of cancer survivors. Based on a previous cross-sectional study assessing oxaliplatin-related sensory CIPN in colorectal cancer survivors, a secondary analysis was designed to explore the possibility that different clusters of patients may co-exist among a cohort of patients with oxaliplatin-related CIPN. Other objectives were to characterize these clusters considering CIPN severity, anxiety, depression, health-related quality of life (HRQOL), patients’ characteristics and oxaliplatin treatments. Among the 96 patients analyzed, three clusters were identified (cluster 1: 52, cluster 2: 34, and cluster 3: 10 patients). Clusters were significantly different according to CIPN severity and the proportion of neuropathic pain (cluster 1: low, cluster 2: intermediate, and cluster 3: high). Anxiety, depressive disorders and HRQOL alteration were lower in cluster 1 in comparison to clusters 2 and 3, but not different between clusters 2 and 3. This study underlines that patients with CIPN are not a homogenous group, and that CIPN severity is associated with psychological distress and a decline of HRQOL. Further studies are needed to explore the relation between clusters and CIPN management.
Published: 2021

5. Sentinel node involvement with or without completion axillary lymph node dissection: treatment and pathologic results of randomized SERC trial

Author: Gilles Houvenaeghel, Monique Cohen, Pédro Raro, Jérémy De Troyer, Pierre Gimbergues, Christine Tunon de Lara, Vivien Ceccato, Véronique Vaini-Cowen, Christelle Faure-Virelizier, Frédéric Marchal, Tristan Gauthier, Eva Jouve, Pierrick Theret, Claudia Regis, Philippe Gabelle, Julia Pernaut, Francesco Del Piano, Gauthier D’Halluin, Stéphane Lantheaume, Emile Darai, Bassoodéo Beedassy, Caroline Dhainaut-Speyer, Xavier Martin, Sophie Girard, Richard Villet, Emilie Monrigal, Théophile Hoyek, Jean-François Le Brun, Pierre-Emmanuel Colombo, Agnès Tallet, Jean-Marie Boher, SERC trial group, Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Cancérologie de l'Ouest [Angers/Nantes] (UNICANCER/ICO), UNICANCER, Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), Institut Bergonié [Bordeaux], Institut Jean Godinot [Reims], Polyclinique du Parc Rambot, Centre Léon Bérard [Lyon], Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), Hôpital Dupuytren [CHU Limoges], Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier de Saint-Quentin, Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université de Lille-UNICANCER, Groupe Hospitalier Mutualiste [Grenoble] (GHM), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Intercommunal Toulon-La Seyne sur Mer - Hôpital Sainte-Musse, Hôpital privé Sainte-Marie - Ramsay Générale de Santé, Centre Hospitalier Alpes Léman (CHAL), Groupe Hospitalier Diaconesses Croix Saint-Simon, Clinique Clémentville [Montpellier], Centre hospitalier d'Auxerre (CHA), Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), UNICANCER - Institut régional du Cancer Montpellier Val d'Aurelle (ICM), CRLCC Val d'Aurelle - Paul Lamarque, 'Cancer, Biomedicine & Society' group (SESSTIM - U1252 INSERM - AMU - UMR 259 IRD), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Lille Nord de France (COMUE)-UNICANCER, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier d'Auxerre, and UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)
Subjects: medicine.medical_specialty, medicine.medical_treatment, [SDV.CAN]Life Sciences [q-bio]/Cancer, Article, 03 medical and health sciences, 0302 clinical medicine, Medicine, Pharmacology (medical), Radiology, Nuclear Medicine and imaging, In patient, Total Mastectomy, RC254-282, 030304 developmental biology, Cancer, 0303 health sciences, business.industry, Significant difference, Axillary Lymph Node Dissection, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Sentinel node, 3. Good health, Surgery, Clinical trial, Breast conservative surgery, Oncology, 030220 oncology & carcinogenesis, Surgical oncology, business, Mastectomy
Abstract: Based on results of clinical trials, completion ALND (cALND) is frequently not performed for patients with breast conservation therapy and one or two involved sentinel nodes (SN) by micro- or macro-metastases. However, there were limitations despite a conclusion of non-inferiority for cALND omission. No trial had included patients with SN macro-metastases and total mastectomy or with >2 SN macro-metastases. The aim of the study was too analyze treatment delivered and pathologic results of patients included in SERC trial. SERC trial is a multicenter randomized non-inferiority phase-3 trial comparing no cALND with cALND in cT0-1-2, cN0 patients with SN ITC (isolated tumor cells) or micro-metastases or macro-metastases, mastectomy or breast conservative surgery. We randomized 1855 patients, 929 to receive cALND and 926 SLNB alone. No significant differences in patient’s and tumor characteristics, type of surgery, and adjuvant chemotherapy (AC) were observed between the two arms. Rates of involved SN nodes by ITC, micro-metastases, and macro-metastases were 5.91%, 28.12%, and 65.97%, respectively, without significant difference between two arms for all criteria. In multivariate analysis, two factors were associated with higher positive non-SN rate: no AC versus AC administered after ALND (OR = 3.32, p 2 involved SN versus ≤2 (OR = 3.45, p = 0.0258). Crude rates of positive NSN were 17.62% (74/420) and 26.45% (73/276) for patient’s eligible and non-eligible to ACOSOG-Z0011 trial. No significant differences in patient’s and tumor characteristics and treatment delivered were observed between the two arms. Higher positive-NSN rate was observed for patients with AC performed after ALND (17.65% for SN micro-metastases, 35.22% for SN macro-metastases) in comparison with AC administered before ALND.
Published: 2021

6. Eculizumab discontinuation in children and adults with atypical hemolytic-uremic syndrome: a prospective multicenter study

Author: Véronique Frémeaux-Bacchi, Christiane Mousson, Emma Allain Launay, David Ribes, François Provôt, Simon Ville, Aurélie Le Thuaut, Claire Presne, Anne-Laure Sellier-Leclerc, Aurélie Hummel, Ferielle Louillet, Leila Tricot, Marc Fila, Quentin Raimbourg, Stéphane Bally, Fadi Fakhouri, Eric Rondeau, Ariane Zaloszyc, Moglie Le Quintrec, Djamal Djeddi, William Hanf, Guillaume Favre, Annie Lahoche, Valérie Châtelet, Sophie Caillard, Chantal Loirat, Jean-Philippe Coindre, Claire Pouteil-Noble, Yahsou Delmas, Olivia Boyer, Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service Néphrologie et transplantation rénale Adultes [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Néphrologie - Immunologie Clinique [Toulouse], CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse]-PRES Université de Toulouse, Hospices Civils de Lyon (HCL), Centre Hospitalier Le Mans (CH Le Mans), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Urgences néphrologiques et transplantation rénale [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de référence des microangiopathies thrombotiques [CHU Saint-Antoine] (Cnr-mat), Service d'hématologie clinique et de thérapie cellulaire [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Service de néphrologie pédiatrique [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), Service de Néphrologie et Transplantation rénale [CHRU-lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Amiens-Picardie, Centre Hospitalier Alpes Léman (CHAL), Service de Néphrologie-transplantation-dialyse [Bordeaux], CHU Bordeaux [Bordeaux], Service de Néphrologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Hospitalier Universitaire de Nice (CHU Nice), Service de Néphrologie-Dialyse-Transplantation rénale [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de néphrologie et hémodialyse [CHU de Strasbourg], CHU Strasbourg, Service de néphrologie - dialyse [Centre hospitalier Métropole Savoie - Chambéry], Centre Hospitalier Métropole Savoie [Chambéry], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Hôpital Foch [Suresnes], Service de néphrologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), AP-HP Hôpital universitaire Robert-Debré [Paris], Service d'immunologie [HEGP, Paris], Hôpital Européen Georges Pompidou [APHP] (HEGP), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)
Subjects: Adult, Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Immunology, 030232 urology & nephrology, Renal function, Disease, 030204 cardiovascular system & hematology, Antibodies, Monoclonal, Humanized, urologic and male genital diseases, Biochemistry, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Internal medicine, Atypical hemolytic uremic syndrome, medicine, Humans, Prospective Studies, Child, Dialysis, Atypical Hemolytic Uremic Syndrome, business.industry, Infant, Newborn, Infant, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Cell Biology, Hematology, Eculizumab, Prognosis, medicine.disease, 3. Good health, Discontinuation, Survival Rate, Complement Inactivating Agents, Withholding Treatment, Child, Preschool, Female, business, BLOOD Commentary, Follow-Up Studies, Kidney disease, medicine.drug
Abstract: The optimal duration of eculizumab treatment in patients with atypical hemolytic uremic syndrome (aHUS) remains poorly defined. We conducted a prospective national multicenter open-label study to assess eculizumab discontinuation in children and adults with aHUS. Fifty-five patients (including 19 children) discontinued eculizumab (mean treatment duration, 16.5 months). Twenty-eight patients (51%) had rare variants in complement genes, mostly in MCP (n = 12; 22%), CFH (n = 6; 11%), and CFI (n = 6; 10%). At eculizumab discontinuation, 17 (30%) and 4 patients (7%) had stage 3 and 4 chronic kidney disease, respectively. During follow-up, 13 patients (23%; 6 children and 7 adults) experienced aHUS relapse. In multivariable analysis, female sex and presence of a rare variant in a complement gene were associated with an increased risk of aHUS relapse, whereas requirement for dialysis during a previous episode of acute aHUS was not. In addition, increased sC5b-9 plasma level at eculizumab discontinuation was associated with a higher risk of aHUS relapse in all patients and in the subset of carriers with a complement gene rare variant, both by log-rank test and in multivariable analysis. Of the 13 relapsing patients, all of whom restarted eculizumab, 11 regained their baseline renal function and 2 had a worsening of their preexisting chronic kidney disease, including 1 patient who progressed to end-stage renal disease. A strategy of eculizumab discontinuation in aHUS patients based on complement genetics is reasonable and safe. It improves the management and quality of life of a sizeable proportion of aHUS patients while reducing the cost of treatment. This trial was registered at www.clinicaltrials.gov as #NCT02574403.
Published: 2021

7. SIPIBEL observatory: Data on usual pollutants (solids, organic matter, nutrients, ions) and micropollutants (pharmaceuticals, surfactants, metals), biological and ecotoxicity indicators in hospital and urban wastewater, in treated effluent and sludge from wastewater treatment plant, and in surface and groundwater

Author: Jean-Luc Bertrand-Krajewski, Rémy Bournique, Vivien Lecomte, Noémie Pernin, Laure Wiest, Christine Bazin, Agnès Bouchez, Elodie Brelot, Benoît Cournoyer, Teofana Chonova, Christophe Dagot, Pascal Di Majo, Adriana Gonzalez-Ospina, Audrey Klein, Jérôme Labanowski, Yves Lévi, Yves Perrodin, Sandra Rabello-Vargas, Liana Reuilly, Audrey Roch, Axel Wahl, Déchets Eaux Environnement Pollutions (DEEP), 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), Groupe de Recherche Rhône Alpes sur les Infrastructures et l'Eau (GRAIE), Institut des Sciences Analytiques (ISA), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), PROVADEMSE, INSAVALOR, Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Centre Alpin de Recherche sur les Réseaux Trophiques et Ecosystèmes Limniques (CARRTEL), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), UMR INSERM 1092, Université of Limoges, Centre Hospitalier Alpes Léman (CHAL), SUEZ ENVIRONNEMENT (FRANCE), CIPEL, Institut de Chimie des Milieux et Matériaux de Poitiers (IC2MP), Université de Poitiers-Institut national des sciences de l'Univers (INSU - CNRS)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Université Paris Sud (Université Paris Sud), École Nationale des Travaux Publics de l'État (ENTPE), Etat de Genève, Syndicat Mixte d'Aménagement de l'Arve et de ses Affluents (SM3A), Syndicat des Rocailles et de Bellecombe (SRB), Services Industriels de Genève (SIG), TRACES - Technologie et Recherche en Analyse Chimique pour l'Environnement et la Santé, Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), and BERTRAND-KRAJEWSKI, Jean-Luc
Subjects: Science (General), SIPIBEL, Computer applications to medicine. Medical informatics, R858-859.7, 030226 pharmacology & pharmacy, 01 natural sciences, sudge, ecotoxicological risk assessment, Q1-390, 03 medical and health sciences, 0302 clinical medicine, groundwater, urban wastewater, receiving water body, ComputingMilieux_MISCELLANEOUS, wastewater treatment plant, Data Article, emerging contaminants, Multidisciplinary, [SDE.IE]Environmental Sciences/Environmental Engineering, 010401 analytical chemistry, Hospital wastewater, 6. Clean water, 0104 chemical sciences, sludge, 13. Climate action, [SDE.IE] Environmental Sciences/Environmental Engineering, ZABR
Abstract: Data Paper; International audience; The Bellecombe pilot site - SIPIBEL - was created in 2010 in order to study the characterisation, treatability and impacts of hospital effluents in an urban wastewater treatment plant. This pilot site is composed of: i) the Alpes Leman hospital (CHAL), opened in February 2012, ii) the Bellecombe wastewater treatment plant, with two separate treatment lines allowing to fully separate the hospital wastewater and the urban wastewater, and iii) the Arve River as the receiving water body and a tributary of the Rhone River and the Geneva aquifer. The database includes in total 48 439 values measured on 961 samples (raw and treated hospital and urban wastewater, activated sludge in aeration tanks, dried sludge after dewatering, river and groundwater, and a few additional campaigns in aerobic and anaerobic sewers) with 44 455 physico-chemistry values (including 15 pharmaceuticals and 14 related transformation products, biocides compounds, metals, organic micropollutants), 2 193 bioassay values (ecotoxicity), 1 679 microbiology values (including microorganisms and antibioresistance indicators) and 112 hydrobiology values.
Published: 2022

8. L'IMC du patient receveur influence-t-il les complications à court terme en transplantation rénale ?

Author: Queruel, V., Kabore, Remi, Guillaume, A., Moreau, K., Leffondre, Karen, Merville, P., Ferriere, J. M., Hanf, W., Bernhard, J. C., CCSD, Accord Elsevier, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Institut de Santé Publique, d'Epidémiologie et de Développement (ISPED), Université Bordeaux Segalen - Bordeaux 2, and Centre Hospitalier Alpes Léman (CHAL)
Subjects: [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
Abstract: Objectives: Obesity prevalence has increased over the past 20 years in the general population and among kidney transplant recipients. General surgical belief is that obesity increases surgical difficulty. The aim of this study was to assess the impact of Body Mass Index (BMI) on perioperative complications. Methods: All kidney transplantations performed in adults in our centre from 2006 to 2011 were analysed. Data on patients’ characteristics, surgical protocol, intra and postoperative complications and renal function were collected. Patients were divided into 4 groups as follows: underweight (BMI < 18.5 kg/m2), normal weight (18.5 kg/m2 ≤ BMI < 25 kg/m2), overweight (25 kg/m2 ≤ BMI < 30 kg/m2) and obese (BMI ≥ 30 kg/m2). We also studied the impact of BMI on complications using it as a continuous variable to identify potential threshold values. Results: Among 694 patients included, 52% had normal BMI, 7%, 31% and 9% were underweight, overweight and obese, respectively. In multivariate analysis, overweight was significantly associated with longer operative time compared to normal-weight patients (estimated mean difference of 10,4 min, 95% confidence interval (CI) [4.0; 16.9]) and obesity was associated with an increased risk of wound dehiscence (odds ratio 3.1, 95% CI [1.3; 7.3] compared with normal-weight patients). Considering BMI as a continuous variable, the risk of parietal dehiscence significantly increased beyond a BMI of 26 kg/m2, intraoperative blood loss and the risk of ureteral stenosis beyond 32 kg/m2 and the risk of abdominal wall hematoma beyond a BMI of 34 kg/m2. Conclusions: We found BMI thresholds above which intraoperative blood loss and the risk of parietal dehiscence, ureteral stenosis, and parietal hematoma significantly increased. Level of evidence: 3. © 2020 Elsevier Masson SAS, Objectifs: La prévalence de l'obésité n'a cessé d'augmenter ces 20 dernières années dans la population générale et parmi les patients receveurs de transplants rénaux. Dans l'esprit chirurgical, l'obésité est associée à une augmentation des difficultés chirurgicales. L'objectif de cette étude était d’évaluer l'impact de l'IMC sur les complications périopératoires. Méthodes: Toutes les transplantations rénales réalisées chez l'adulte dans notre centre de 2006 à 2011 ont été analysées. Les données concernant les caractéristiques des patients, la procédure chirurgicale, les complications per- et postopératoires ainsi que la fonction rénale ont été collectées. Les patients on été repartis en 4 groupes: sous-poids (BMI < 18,5 kg/m2), poids normal (18,5 kg/m2 ≤ BMI < 25 kg/m2), surpoids (25 kg/m2 ≤ BMI < 30 kg/m2) et obésité (BMI ≥ 30 kg/m2). Nous avons également étudié l'impact de l'IMC sur les complications en tant que variable continue afin d'identifier de potentielles valeurs seuils. Résultats: Parmi 694 patients inclus, 52 % avait un IMC normal, 7 %, 31 % et 9 % étaient respectivement en sous-poids, surpoids et obèses. En analyse multivariée, le surpoids était associé à une augmentation de la durée opératoire comparé au patients de poids normal (différence moyenne estimée à 10,4 min, 95 % intervalle de confiance (IC) [4,0; 16,9]) et l'obésité était associée à une augmentation du risque d’éventration (odds ratio 3,1, 95 %CI [1,3; 7,3] comparé aux patients de poids normal). En considérant l'IMC en tant que variable continue le risque d’éventration augmentait significativement au-delà d'un IMC à 26 kg/m2, de pertes sanguines et de sténose urétérale au-delà d'un IMC à 32 kg/m2 et d'hématome de paroi au-delà d'un IMC à 34 kg/m2. Conclusions: Nous avons trouvé des seuils d'IMC au-delà desquels les pertes sanguines, le risque d’éventration, de sténose urétérale et d'hématome de paroi augmentent significativement. Niveau de preuve: 3. © 2020 Elsevier Masson SAS
Published: 2020

9. Hypothermic pulsatile preservation of kidneys from uncontrolled deceased donors after cardiac arrest - a retrospective study

Author: Vannary Meas Yedid, Thomas Rimmelé, Alexandre Faure, Palmina Petruzzo, Xavier Matillon, Lionel Badet, Emmanuel Morelon, Ricardo Codas, Olivier Thaunat, Maud Rabeyrin, Fabrice Danjou, William Hanf, Claire Delsuc, Service d'Urologie et Chirurgie de la Transplantation, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Hôpital Saint Camille, Department of Medical Sciences, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Lymphocytes B effecteurs et à mémoire – Effector and memory B cells, Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Transplantation, Néphrologie et Immunologie Clinique [Hôpital Edouard Herriot, HCL], Hospices Civils de Lyon (HCL)-Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Service d'anesthésie-réanimation [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Département de Pathologie [CHU Lyon-Sud - HCL], Analyse d'images biologiques - Biological Image Analysis (BIA), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Alpes-Léman - CHAL, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)
Subjects: Graft Rejection, Male, Time Factors, medicine.medical_treatment, 030232 urology & nephrology, Pulsatile flow, 030230 surgery, outcomes, Cohort Studies, 0302 clinical medicine, Warm Ischemia, Kidney transplantation, uncontrolled deceased donors, Graft Survival, Statistics, Organ Preservation, perfusion machine, Treatment Outcome, Anesthesia, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Perfusion, medicine.medical_specialty, Tissue and Organ Procurement, Risk Assessment, Statistics, Nonparametric, 03 medical and health sciences, Extracorporeal Membrane Oxygenation, Resistance Index, Extracorporeal membrane oxygenation, medicine, Humans, Nonparametric, Cardiopulmonary resuscitation, Retrospective Studies, Transplantation, Inulin Clearance, business.industry, Retrospective cohort study, medicine.disease, Kidney Transplantation, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Surgery, Heart Arrest, Linear Models, business, donor management, Follow-Up Studies
Abstract: Kidneys from uncontrolled donors after cardiac arrest (uDCD) suffer from a period of warm ischemia between cardiac arrest and cold flushing. Aim of the study was to evaluate renal outcomes of uDCD kidneys selected on the basis of renal Resistance Index (RI) and its influence on graft function and survival. The study included 44 kidneys procured from 26 uDCD starting 1.1.2006 until 31.12.2013. The donors (Maastricht category II) underwent cardiopulmonary resuscitation by assisted ventilation and chest compression; the organs were preserved with “in situ” cold perfusion or a normothermic regional perfusion. All kidneys were perfused on hypothermic (1-4°C) pulsatile perfusion machine (RM3, Waters Medical System) and discarded when RI≥0.5 mmHg/mL/min after 6 hours of perfusion. There was one (2.2%) primary non-function, while 37 recipients (84.1%) experienced delayed graft function. Graft survival was 97.6% at 1 and 3 post-transplantation years. Linear regression models showed that lower values of RI at the end of perfusion were associated to higher values of MDRD at 3 (p=0.049) and 6 months after transplantation (p=0.010) and to higher values of inulin clearance at 1 year (p=0.030). RI showed to be a useful tool to select uDCD kidneys allowing to achieve good clinical results. This article is protected by copyright. All rights reserved.
Published: 2017

10. SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inhomozygotes

Author: Serge P. Bottari, Amir Amiri-Yekta, Emeline Lambert, Alexandra Vargas, Christophe Arnoult, Thomas Karaouzène, Charles Coutton, Marie Christou-Kent, Florence Boitrelle, Nicolas Thierry-Mieg, Véronique Satre, Christelle Borel, Karin Pernet-Gallay, I. Aknin-Seifer, Sylviane Hennebicq, Jessica Escoffier, Julien Fauré, Béatrice Dorphin, Zine-Eddine Kherraf, Michael J. Mitchell, Guillaume Martinez, Mariane Grepillat, Pierre F. Ray, Marc Bailly, Serge Nef, Catherine Metzler-Guillemain, Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Biologie Computationnelle et Mathématique (TIMC-IMAG-BCM), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-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)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-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)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), UF de Biochimie et Génétique Moléculaire [CHU Grenoble], CHU Grenoble, Department of Genetics [Tehran, Iran], Reproductive Biomedicine Research Center [Tehran, Iran]-Academic Center for Education, Culture and Research (ACECR)-Royan Institute for Reproductive Biomedicine [Tehran, Iran], Department of Genetic Medicine and Development [Geneva, Switzerland], University of Geneva Medical School, Laboratoire d’Aide Médicale à la Procréation [CH Alpes-Léman] (AMP 74), Centre AMP 74 [Contamine-sur-Arve]-Centre Hospitalier Alpes-Léman - CHAL, Laboratoire de Biologie de la Reproduction [Hôpital Nord, Saint Etienne], CHU de Saint-Étienne Hôpital Nord [Saint Etienne], Génétique Médicale et Génomique Fonctionnelle (GMGF), 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)-Centre National de la Recherche Scientifique (CNRS), UF de Génétique Chromosomique [CHU Grenoble Alpes], Centre Hospitalier Universitaire Grenoble Alpes (CHU Grenoble Alpes)-hôpital couple-enfant [CHU Grenoble Alpes], Département de biologie de la reproduction et de gynécologie [CHIPS, Poissy], centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Gamètes, implantation, gestation (GIG), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), UF de Biologie de la procréation [CHU Grenoble-Alpes], Centre Hospitalier Universitaire Grenoble Alpes (CHU Grenoble Alpes), UF de Radioanalyses [CHU Grenoble Alpes], Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Academic Center for Education, Culture and Research (ACECR)-Royan Institute for Reproductive Biomedicine [Tehran, Iran]-Reproductive Biomedicine Research Center [Tehran, Iran], Service de Biologie de la Reproduction [CHU Saint Etienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), Centre Hospitalier Universitaire [Grenoble] (CHU)-hôpital couple-enfant [CHU Grenoble Alpes], Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Centre Hospitalier Universitaire [Grenoble] (CHU), and Gall, Valérie
Subjects: 0301 basic medicine, Male, Heterozygote, endocrine system, Urogenital System, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Gene Therapy & Genetic Disease, Asthenozoospermia, Male infertility, Andrology, 03 medical and health sciences, Mice, 0302 clinical medicine, medicine, Animals, ddc:576.5, genetics, Acrosome, spermatogenesis Subject Categories Genetics, Research Articles, reproductive and urinary physiology, Glycoproteins, Azoospermia, Mice, Knockout, 030219 obstetrics & reproductive medicine, Serine Peptidase Inhibitors, Kazal Type, urogenital system, azoospermia, Homozygote, Spermatid differentiation, medicine.disease, Acrosin, Sperm, spermatogenesis, Disease Models, Animal, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Molecular Medicine, Genetics, Gene Therapy & Genetic Disease, infertility, Spermatogenesis, exome sequencing, Research Article
Abstract: International audience; Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in SPINK2, encoding a serine protease inhibitor believed to target acrosin, the main sperm acrosomal protease. In accord with these findings, we observed that homozygous Spink2 KO male mice had azoospermia. Moreover, despite normal fertility, heterozygous male mice had a high rate of morphologically abnormal spermatozoa and a reduced sperm motility. Further analysis demonstrated that in the absence of Spink2, protease-induced stress initiates Golgi fragmentation and prevents acrosome biogenesis leading to spermatid differentiation arrest. We also observed a deleterious effect of acrosin overexpression in HEK cells, effect that was alleviated by SPINK2 coexpression confirming its role as acrosin inhibitor. These results demonstrate that SPINK2 is necessary to neutralize proteases during their cellular transit toward the acrosome and that its deficiency induces a pathological continuum ranging from oligoasthenoteratozoospermia in heterozygotes to azoospermia in homozygotes.
Published: 2017

11. Fungal infections in patients treated with ibrutinib: two unusual cases of invasive aspergillosis and cryptococcal meningoencephalitis

Author: Thibaut Challan Belval, Blandine Denis, Jean Marc Zini, Marion Malphettes, Marguerite Vignon, Alexandre Alanio, Marine Baron, Service d'Immunopathologie [Hôpital Saint-Louis, Paris], Université Paris Diderot - Paris 7 (UPD7)-CHU Saint Louis [APHP], Service d'hématologie-oncologie adultes, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Centre Hospitalier Alpes Léman (CHAL), Service de maladies infectieuses et tropicales [Saint-Louis], Laboratoire de Parasitologie-Mycologie [CHU Saint Louis, Paris], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université Sorbonne Paris Cité (USPC), Mycologie moléculaire, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7)-Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), and Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]
Subjects: 0301 basic medicine, Cancer Research, medicine.medical_specialty, 030106 microbiology, Antineoplastic Agents, Aspergillosis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Piperidines, Meningoencephalitis, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, In patient, Protein Kinase Inhibitors, ComputingMilieux_MISCELLANEOUS, [SDV.MP.MYC]Life Sciences [q-bio]/Microbiology and Parasitology/Mycology, Aged, business.industry, Adenine, Cryptococcal meningoencephalitis, Hematology, Cryptococcosis, medicine.disease, Dermatology, Leukemia, Lymphocytic, Chronic, B-Cell, Magnetic Resonance Imaging, 3. Good health, Pyrimidines, Oncology, chemistry, 030220 oncology & carcinogenesis, Ibrutinib, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Pyrazoles, Female, Waldenstrom Macroglobulinemia, business
Abstract: International audience; Letters to the editor
Published: 2017

12. Uncontrolled donation after circulatory death: comparison of two kidney preservation protocols on graft outcomes

Author: Thomas Rimmelé, Cécile Chauvet, Bernard Floccard, Didier Dorez, Lionel Badet, Ricardo Codas, Philip Robinson, Vannary Meas-Yedid, Maud Rabeyrin, Claire Delsuc, Vanessa Labeye, Emmanuel Morelon, Alexandre Faure, William Hanf, Julien Berthiller, Guillaume Marcotte, Xavier Matillon, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Physiopathologie de l'immunodépression associée aux réponses inflammatoires systémiques / Pathophysiology of Injury-induced Immunosuppression (PI3), Université de Lyon-Université de Lyon, Centre Hospitalier Annecy-Genevois [Saint-Julien-en-Genevois], Analyse d'images biologiques - Biological Image Analysis (BIA), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), and Centre Hospitalier Alpes Léman (CHAL)
Subjects: Nephrology, Adult, Graft Rejection, Male, medicine.medical_specialty, 030232 urology & nephrology, Ischemia, Organ preservation, Renal function, Delayed Graft Function, [SDV.CAN]Life Sciences [q-bio]/Cancer, 030230 surgery, lcsh:RC870-923, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, 03 medical and health sciences, 0302 clinical medicine, [INFO.INFO-LG]Computer Science [cs]/Machine Learning [cs.LG], Internal medicine, Medicine, Humans, Kidney transplantation, Retrospective Studies, Kidney, Warm Ischemia Time, business.industry, Donor selection, Graft Survival, [INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV], Shock, [SDV.IMM.IMM]Life Sciences [q-bio]/Immunology/Immunotherapy, Middle Aged, lcsh:Diseases of the genitourinary system. Urology, medicine.disease, Kidney Transplantation, Fibrosis, Tissue Donors, Heart Arrest, medicine.anatomical_structure, Treatment Outcome, [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV], Anesthesia, Female, Glomerular filtration rate, business, Reperfusion injury, Follow-Up Studies, Research Article
Abstract: Background Kidney transplantation following uncontrolled donation after circulatory death (uDCD) presents a high risk of delayed graft function due to prolonged warm ischemia time. In order to minimise the effects of ischemia/reperfusion injury during warm ischemia, normothermic recirculation recently replaced in situ perfusion prior to implantation in several institutions. The aim of this study was to compare these preservation methods on kidney graft outcomes. Methods The primary endpoint was the one-year measured graft filtration rate (mGFR). We collected retrospective data from 64 consecutive uDCD recipients transplanted over a seven-year period in a single centre. Results Thirty-two grafts were preserved by in situ perfusion and 32 by normothermic recirculation. The mean ± SD mGFR at 1 year post-transplantation was 43.0 ± 12.8 mL/min/1.73 m2 in the in situ perfusion group and 53.2 ± 12.8 mL/min/1.73 m2 in the normothermic recirculation group (p = 0.01). Estimated GFR levels were significantly higher in the normothermic recirculation group at 12 months (p = 0.01) and 24 months (p = 0.03) of follow-up. We did not find any difference between groups regarding patient and graft survival, delayed graft function, graft rejection, or interstitial fibrosis. Conclusions Function of grafts preserved by normothermic recirculation was better at 1 year and the results suggest that this persists at 2 years, although no difference was found in short-term outcomes. Despite the retrospective design, this study provides an additional argument in favour of normothermic recirculation. Electronic supplementary material The online version of this article (10.1186/s12882-017-0805-1) contains supplementary material, which is available to authorized users.
Published: 2017

13. Randomized phase II–III study of bevacizumab in combination with chemotherapy in previously untreated extensive small-cell lung cancer: results from the IFCT-0802 trial†

Author: Julien Mazieres, P.-J. Souquet, G. Jeannin, J. Tredaniel, P. Dumont, H. Le Caer, Gérard Zalcman, F. Vaylet, L. Petit, C. Dayen, B. Coudert, Virginie Westeel, M. Poudenx, P. Barre, F. Goutorbe, H. Monnot, P. Deguiral, C. Raspaud, S. Schneider, P. Chatellain, A. Lavole, A. Dixmier, D. Coëtmeur, D. Moro-Sibilot, J. Dauba, R. Gervais, E. Pichon, H. Berard, J.P. Oster, Olivier Molinier, Pierre-Jean Lamy, P. Mourlanette, Franck Morin, Fabrice Barlesi, Luc Thiberville, M. Zaegel, Yves Martinet, M. Derollez, J-P. Duhamel, Elisabeth Quoix, P. Romand, A. Renault, A. Langlais, H. Laize, Pascal Foucher, Debra S. Herman, H. Doubre, Jean-Louis Pujol, S. Dehette, J-P. Gury, N. Baize, P. Fournel, Département pneumologie et addictologie [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service de Pneumologie - Oncologie Thoracique - Maladies Pulmonaires Rares [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Strasbourg, Centre Hospitalier Le Mans (CH Le Mans), Service de pneumologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Oncologie multidisciplinaire et innovations thérapeutiques [Hôpital Nord - APHM], Aix Marseille Université (AMU)- Hôpital Nord [CHU - APHM]-Assistance Publique - Hôpitaux de Marseille (APHM), Centre Hospitalier de la Dracénie [Draguignan], Clinique de pneumologie, CHU Grenoble, Institut de Cancérologie Lucien Neuwirth, CHU Saint-Etienne, CH Colmar, Centre Hospitalier Alpes Léman (CHAL), Centre hospitalier Jean Rougier, CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Centre Hospitalier Pierre Bérégovoy [Nevers], Centre hospitalier de Pau, Centre hospitalier de Saint-Quentin, Institut Régional du Cancer, Intergroupe Francophone de Cancérologie Thoracique [Paris] (IFCT), Intergroupe Francophone de Cancérologie thoracique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital Nord [CHU - APHM], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Male, Oncology, Lung Neoplasms, Time Factors, anti-angiogenesis therapy, medicine.medical_treatment, Angiogenesis Inhibitors, Kaplan-Meier Estimate, chemotherapy, Gastroenterology, 0302 clinical medicine, Risk Factors, Antineoplastic Combined Chemotherapy Protocols, Clinical endpoint, small-cell lung cancer, Etoposide, 0303 health sciences, Hazard ratio, Induction Chemotherapy, Hematology, Middle Aged, Chemotherapy regimen, 3. Good health, Treatment Outcome, 030220 oncology & carcinogenesis, Disease Progression, Female, France, medicine.drug, Adult, medicine.medical_specialty, Randomization, Bevacizumab, [SDV.CAN]Life Sciences [q-bio]/Cancer, bevacizumab, Disease-Free Survival, Young Adult, 03 medical and health sciences, Internal medicine, medicine, Humans, Lung cancer, Cyclophosphamide, Aged, Epirubicin, Proportional Hazards Models, 030304 developmental biology, Chemotherapy, business.industry, Induction chemotherapy, medicine.disease, Small Cell Lung Carcinoma, Cisplatin, business
Abstract: IFCT study administering 7.5 mg/kg Bevacizumab plus chemotherapy after chemotherapy induction did not improve outcomes in extensive SCLC patients. Background This randomized phase II–III trial sought to evaluate the efficacy and safety of adding bevacizumab (Bev) following induction chemotherapy (CT) in extensive small-cell lung cancer (SCLC). Patients and methods Enrolled SCLC patients received two induction cycles of CT. Responders were randomly assigned 1:1 to receive four additional cycles of CT alone or CT plus Bev (7.5 mg/kg), followed by single-agent Bev until progression or unacceptable toxicity. The primary end point was the percentage of patients for whom disease remained controlled (still in response) at the fourth cycle. Results In total, 147 patients were enrolled. Partial response was observed in 103 patients, 74 of whom were eligible for Bev and randomly assigned to the CT alone group (n = 37) or the CT plus Bev group (n = 37). Response assessment at the end of the fourth cycle showed that disease control did not differ between the two groups (89.2% versus 91.9% of patients remaining responders in CT alone versus CT plus Bev, respectively; Fisher's exact test: P = 1.00). Progression-free survival (PFS) since randomization did not significantly differ, with a median PFS of 5.5 months [95% confidence interval (CI) 4.9% to 6.0%] versus 5.3 months (95% CI 4.8% to 5.8%) in the CT alone and CT plus Bev groups, respectively [hazard ratio (HR) for CT alone: 1.1; 95% CI 0.7% to 1.7%; unadjusted P = 0.82]. Grade ≥2 hypertension and grade ≥3 thrombotic events were observed in 40% and 11% of patients, respectively, in the CT plus Bev group. Serum vascular endothelial growth factor (VEGF) and soluble VEGF receptor titrations failed to identify predictive biomarkers. Conclusion Administering 7.5 mg/kg Bev after induction did not improve outcome in extensive SCLC patients.
Published: 2015

14. EFFLUENTS HOSPITALIERS ET STATIONS D'EPURATION URBAINES : SEPT ANNEES DE SUIVI, D'ETUDES ET DE RECHERCHE SUR SIPIBEL

Author: Jean-Luc Bertrand-Krajewski, Rayan Bouchali, Agnes Bouchez, Elodie Brelot, Claire Brivet, Christophe Dagot, Pascal Di Majo, Adriana Gonzalez Ospina, jérôme Labanowski, Yves Lévi, Anne-Claire Maurice, Luc Patois, Yves Perrodin, Claire Tillon, Laure Wiest, Déchets Eaux Environnement Pollutions (DEEP), 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), Laboratoire d'Ecologie Microbienne - UMR 5557 (LEM), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Ecole Nationale Vétérinaire de Lyon (ENVL), Centre Alpin de Recherche sur les Réseaux Trophiques et Ecosystèmes Limniques (CARRTEL), Institut National de la Recherche Agronomique (INRA)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), GRAIE, Syndicat Mixte d'Aménagement de l'Arve et de ses Affluents (SM3A), Groupement de Recherche Eau, Sol, Environnement (GRESE), Université de Limoges (UNILIM), Centre Hospitalier Alpes Léman (CHAL), Suez–Treatment Infrastructure, Laboratoire Géomatériaux et Environnement (LGE), Université Paris-Est Marne-la-Vallée (UPEM), Université Paris-Sud - Paris 11 (UP11), AgroParisTech, LabEx Intelligences des Mondes Urbains (LabEx IMU), Université de Lyon, Syndicat des Rocailles et de Bellecombe (SRB), Laboratoire d'Ecologie des Hydrosystèmes Naturels et Anthropisés (LEHNA), Université de Lyon-Université de Lyon-École Nationale des Travaux Publics de l'État (ENTPE)-Centre National de la Recherche Scientifique (CNRS), Claire Tillon Consulting, TRACES - Technologie et Recherche en Analyse Chimique pour l'Environnement et la Santé, Institut des Sciences Analytiques (ISA), Centre National de la Recherche Scientifique (CNRS)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Institut de Chimie des Milieux et Matériaux de Poitiers (IC2MP), Université de Poitiers-Institut national des sciences de l'Univers (INSU - CNRS)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Université Claude Bernard Lyon 1 (UCBL), Institut de Chimie du CNRS (INC)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Ecole Nationale Vétérinaire de Lyon (ENVL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Recherche Agronomique (INRA)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Institut National de la Recherche Agronomique (INRA), Anti-infectieux : supports moléculaires des résistances et innovations thérapeutiques (RESINFIT), CHU Limoges-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Wastewater Technical and Innovation Division, Suez Environnement, Université de Poitiers-Centre National de la Recherche Scientifique (CNRS), Ecologie Systématique et Evolution (ESE), Université Paris-Sud - Paris 11 (UP11)-AgroParisTech-Centre National de la Recherche Scientifique (CNRS), Groupe de Recherche Rhône Alpes sur les Infrastructures et l'Eau (GRAIE), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-École Nationale des Travaux Publics de l'État (ENTPE), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL)
Subjects: [SDE.IE]Environmental Sciences/Environmental Engineering, [SDE]Environmental Sciences, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience

15. SIPIBEL observatory: Data on usual pollutants (solids, organic matter, nutrients, ions) and micropollutants (pharmaceuticals, surfactants, metals), biological and ecotoxicity indicators in hospital and urban wastewater, in treated effluent and sludge from wastewater treatment plant, and in surface and groundwater.

Author: Bertrand-Krajewski JL, Bournique R, Lecomte V, Pernin N, Wiest L, Bazin C, Bouchez A, Brelot E, Cournoyer B, Chonova T, Dagot C, Di Majo P, Gonzalez-Ospina A, Klein A, Labanowski J, Lévi Y, Perrodin Y, Rabello-Vargas S, Reuilly L, Roch A, and Wahl A
Abstract: The Bellecombe pilot site - SIPIBEL - was created in 2010 in order to study the characterisation, treatability and impacts of hospital effluents in an urban wastewater treatment plant. This pilot site is composed of: i) the Alpes Léman hospital (CHAL), opened in February 2012, ii) the Bellecombe wastewater treatment plant, with two separate treatment lines allowing to fully separate the hospital wastewater and the urban wastewater, and iii) the Arve River as the receiving water body and a tributary of the Rhône River and the Geneva aquifer. The database includes in total 48 439 values measured on 961 samples (raw and treated hospital and urban wastewater, activated sludge in aeration tanks, dried sludge after dewatering, river and groundwater, and a few additional campaigns in aerobic and anaerobic sewers) with 44 455 physico-chemistry values (including 15 pharmaceuticals and 14 related transformation products, biocides compounds, metals, organic micropollutants), 2 193 bioassay values (ecotoxicity), 1 679 microbiology values (including microorganisms and antibioresistance indicators) and 112 hydrobiology values., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships which have or could be perceived to have influenced the work reported in this article., (© 2021 The Author(s). Published by Elsevier Inc.)
Published: 2021
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14. EFFLUENTS HOSPITALIERS ET STATIONS D'EPURATION URBAINES : SEPT ANNEES DE SUIVI, D'ETUDES ET DE RECHERCHE SUR SIPIBEL

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