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1. A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

Author: Patrizia Amati-Bonneau, Xavier Zanlonghi, Claire-Marie Dhaenens, Gaël Manes, Béatrice Bocquet, Agathe Roubertie, Isabelle Meunier, Guy Lenaers, Majida Charif, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Mohamed 1 Oujda MAROC, UF Génopathies - Laboratoire de Biochimie et Biologie Moléculaire [Lille] (LBBM), Université de Lille, Sciences et Technologies-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de Biochimie et Génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Clinique Jules-Vernes [Nantes], MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), and LENAERS, Guy
Subjects: Male, Visual acuity, genetic structures, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Visual Acuity, inherited optic neuropathy, RTN4IP1, Original Study, Fluorescein Angiography, Child, rod–cone dystrophy, medicine.diagnostic_test, General Medicine, Middle Aged, Pedigree, [SDV] Life Sciences [q-bio], Phenotype, Mitochondrial respiratory chain, Female, medicine.symptom, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Fundus Oculi, Retinal ganglion, Mitochondrial Proteins, Young Adult, Atrophy, Ophthalmology, Electroretinography, medicine, Rod-cone dystrophy, Humans, Retrospective Studies, Cerebellar ataxia, business.industry, recessive disease, Dystrophy, DNA, medicine.disease, eye diseases, Mutation, sense organs, Visual Fields, Carrier Proteins, business, Cone-Rod Dystrophies
Abstract: Although RTN4IP1 has been firmly associated to recessive optic atrophies, we identified by systematic examination of the 55° fundus autofluorescence frames and the peripheral spectral-domain optical coherence tomographic images, a progressive rod–cone dystrophy in all individuals with biallelic RTN4IP1 mutations., Purpose: RTN4IP1 biallelic mutations cause a recessive optic atrophy, sometimes associated to more severe neurological syndromes, but so far, no retinal phenotype has been reported in RTN4IP1 patients, justifying their reappraisal. Methods: Seven patients from four families carrying biallelic RTN4IP1 variants were retrospectively reviewed, with emphasis on their age of onset, visual acuity, multimodal imaging including color and autofluorescence frames, spectral-domain optical coherence tomography with RNFL and macular analyses. Results: Seven patients from four RTN4IP1 families developed in their first decade of life a bilateral recessive optic atrophy with severe central visual loss, and primary nystagmus developed in 5 of 7 patients. Six patients were legally blind. In a second stage, the seven individuals developed a rod–cone dystrophy, sparing the macular zone and the far periphery. This retinal damage was identified by 55° field fundus autofluorescence frames and also by spectral-domain optical coherence tomography scans of the temporal part of the macular zone in five of the seven patients. Full-field electroretinography measurements disclosed reduced b-wave amplitude of the rod responses in all patients but two. Family 4 with the p.R103H and c.601A > T (p.K201*) truncating mutation had further combined neurological signs with cerebellar ataxia, seizures, and intellectual disability. Conclusion: RTN4IP1 recessive optic atrophy is systematically associated to a rod–cone dystrophy, which suggests that both the retinal ganglion cells and the rods are affected as a result of a deficit in the mitochondrial respiratory chain. Thus, systematic widefield autofluorescence frames and temporal macular scans are recommended for the evaluation of patients with optic neuropathies.
Published: 2020
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2. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Author: Mélanie Fradin, Nicolas Sadoul, Xavier Waintraub, Didier Klug, Albert Hagège, Pascal Sabouraud, Arnaud Isapof, Julien Durigneux, Olivier Lascols, Pascal Laforêt, Armelle Magot, Ivana Dabaj, Eloi Marijon, Camille Vatier, Pascal Cintas, Emmanuelle Salort, Bénédicte Gaborit, Antoine Muchir, Xavier Ferrer, Pascale Richard, Corinne Metay, Stéphane Boulé, Sarah Leonard-Louis, Philippe Mabo, V. Tiffreau, Caroline Stalens, Jitendra K. Vohra, Stéphane Schaeffer, Khadija Chikhaoui, Eric Bieth, Sandra Mercier, Pierre Ambrosi, Aleksandra Nadaj-Pakleza, Michèle Mayer, Katja Zeppenfeld, Gisèle Bonne, Véronique Manel, Jean-Marc Davy, Guilhem Sole, Ghassan Moubarak, Nicolas Lamblin, Klaus Dieterich, Christophe Meune, Abdallah Fayssoil, Arnaud Lazarus, Philippe Maury, Karim Wahbi, Philippe Petiot, Isabelle Jéru, Annick Toutain, Corinne Vigouroux, Ana Ferreiro, Maud Michaud, H.M. Bécane, Bruno Eymard, Thomas D. Gossios, Marie-Christine Vantyghem, Saurabh Kumar, Estelle Gandjbakhch, Yann Péréon, T. Thompson, Marie-Christine Minot-Myhié, Anthony Behin, Frédéric Sacher, Philippe Charron, Nicolas Combes, Julien Praline, Dominique Babuty, Emmanuelle Lagrue, Usha B. Tedrow, Jean-Marc Sellal, Florence Petit, Perry M. Elliott, Frédéric Anselme, Philippe Chevalier, Frederic Taithe, Christine Barnerias, Vincent Laugel, Andoni Echaniz-Laguna, Raphaël P. Martins, Alexander F.A. Androulakis, Rabah Ben Yaou, Franck Boccara, Ulrike Walther-Louvier, Tanya Stojkovic, Françoise Bouhour, Annachiara De Sandre-Giovannoli, Susana Quijano-Roy, Françoise Chapon, Jean-Noël Trochu, Céline Tard, Anne Rollin, Jean-Marie Cuisset, Denis Duboc, Raphaël Porcher, Catherine Sarret, Jonathan M. Kalman, Florence Demurger, Damien Bonnet, Christine Francannet, Neal K. Lakdawala, Romain Eschalier, Fabien Labombarda, Kostantinos Savvatis, Raul Juntas Morales, Isabelle Desguerre, Nicolas Lévy, Anne-Claire Brehin, Service de Cardiologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [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 Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Rouen, Normandie Université (NU), St Bartholomew's Hospital (London), Brigham & Women’s Hospital [Boston] (BWH), Harvard Medical School [Boston] (HMS), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou [APHP] (HEGP), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Association française contre les myopathies (AFM-Téléthon), IHU-LIRYC, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux], Service de Cardiologie B, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Hôpital Ambroise Paré [AP-HP], William Harvey Research Institute, Barts and the London Medical School, Biostatistique et épidemiologie clinique, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de cardiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Filière Neuromusculaire (FILNEMUS), Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Université de Caen Normandie (UNICAEN), Laboratoire d'Informatique Scientifique et Industrielle (LISI), Université de Poitiers-Ecole Nationale Supérieure de Mécanique et d'Aérotechnique [Poitiers] (ISAE-ENSMA), Hôpital Raymond Poincaré [AP-HP], CHU Lille, Institut Européen de Génomique du Diabète - European Genomic Institute for Diabetes - FR 3508 (EGID), 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 National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC), Aix Marseille Université (AMU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], 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 Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Institut de cardiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de cardiologie et maladies vasculaires [Rennes] = Cardiac, Thoracic, and Vascular Surgery [Rennes], CHU Pontchaillou [Rennes], Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinique Pasteur [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Imagerie Adaptative Diagnostique et Interventionnelle (IADI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), The Royal Melbourne Hospital, Leiden University Medical Center (LUMC), Universiteit Leiden, Service de neurologie pédiatrique [CHU Necker], 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), CHU Saint-Antoine [AP-HP], 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), CHU Necker - Enfants Malades [AP-HP], Hôpital Privé Le Bois Ramsay Santé [Lille], Service de génétique [Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Mobilités : Vieillissement, Pathologie, Santé (COMETE), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Roger Salengro [Lille], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), 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)-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), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire [Grenoble] (CHU), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Les Hôpitaux Universitaires de Strasbourg (HUS), CHU Clermont-Ferrand, Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [Bordeaux], Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Institut National de la Recherche Agronomique (INRA)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de chirurgie cadiovasculaire et thoracique [Rouen], Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Service de cardiologie [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU Trousseau [APHP], Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), 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), CHU Strasbourg, Clinique Ambroise Paré [Centres Médico-Chirurgicaux Ambroise Pré, Pierre Cherest, Hartmann], Hôpital Cochin [AP-HP], Hospices Civils de Lyon (HCL), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Université de Lorraine (UL), Service de neurologie [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Centre Hospitalier Universitaire de Reims (CHU Reims), Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Caen], 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 Neurologie [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], Institut Cochin (IC UM3 (UMR 8104 / U1016)), Laboratoire d'étude de la motricité humaine - EA 3608 (LEMH), Université de Lille, Droit et Santé, Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Montréal (UdeM), Laboratoire Génie des procédés papetiers (LGP2 ), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS), The Heart Hospital [London], University College of London [London] (UCL), This study was funded by grants from the AFM-Téléthon (French Alliance against Myopathies), which was not involved in the design and conduct of the study, collection, management, analysis, and interpretation of the data, preparation, review, or approval of the manuscript, and decision to submit the manuscript for publication. Some of this work was undertaken at University College London (United Kingdom) and St. Bartholomew’s Hospital (London, United Kingdom), which received a portion of funding from the United Kingdom Department of Health’s National Institute for Health Research Biomedical Research Centres funding scheme., Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP], CHU Bordeaux [Bordeaux]-Université Bordeaux Segalen - Bordeaux 2, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-CHU Trousseau [APHP], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de cardiologie et maladies vasculaires, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], CHU Pitié-Salpêtrière [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-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) (APHP)-CHU Necker - Enfants Malades [AP-HP], Unit of Neuromuscular Morphology [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [APHP]-Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des maladies rares neuromusculaires Aquitaine-Grand Sud Ouest, CHU Bordeaux [Bordeaux], Laboratoire d'Informatique Scientifique et Industrielle (LISI / ENSMA), LISI-ENSMA, Service de Biochimie-Génétique [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Thérapie des maladies du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Cardiologie A, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'Endocrinologie et Métabolisme, Unité de Cardiologie et Soins Intensifs, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), Service de Génétique [Purpan], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], Centre de Référence M3C Malformations Cardiaques Congénitales Complexes, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-CHU Necker - Enfants Malades [AP-HP], Hôpital neurologique, Centre Hospitalier Universitaire de Lille (CHU de Lille), Service Neurologie Pédiatrique, Service de Neuropédiatrie, INSERM U836, équipe 4, Muscles et pathologies, Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF), Département de Neurologie, Hôpital Civil de Strasbourg, Groupe Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-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), Service de génétique médicale, CHU - HÔTEL-DIEU Clermont-Ferrand, CLAD Ouest, Centre Hospitalier Universitaire [Rennes], Centre recherche en CardioVasculaire et Nutrition (C2VN), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Centre de Recherche Saint-Antoine (CR Saint-Antoine), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagerie et cerveau, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement (Inserm U1167 - RID-AGE - Institut Pasteur), Clinique Ambroise Paré, CHU Cochin [AP-HP], Epilepsie, sommeil et explorations fonctionnelles neuropédiatriques, Hospices Civils de Lyon (HCL)-Hopital Neurologique-Hôpital Femme Mère Enfant, Department of Medicine, Columbia University [New York]-College of Physicians and Surgeons, Service de neurologie, Hospices Civils de Lyon (HCL)-Hôpital de la Croix-Rousse [CHU - HCL], Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc - U837 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université Lille 2 - Faculté de Médecine, Hôpital de Rangueil, Institut Pascal - Clermont Auvergne (IP), Sigma CLERMONT (Sigma CLERMONT)-Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS), laboratoire d'étude de la motricité humaine (LEMH EA3608), Université de Montréal - UdeM (CANADA), Laboratoire Génie des procédés papetiers (LGP2), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche en Myologie, 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], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-CHU Necker - Enfants Malades [AP-HP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), 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)-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), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Sorbonne Université, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), 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, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (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)-Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), European Genomic Institute for Diabetes - FR 3508 (EGID), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Hôpital Purpan [Toulouse], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), SIGMA Clermont (SIGMA Clermont)-Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Université Pierre et Marie Curie - Paris 6 (UPMC), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut de Myologie, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, Tachycardia, medicine.medical_specialty, implantable, Accurate estimation, Ventricular Tachyarrhythmias, Validation Studies as Topic, 030204 cardiovascular system & hematology, tachycardia, Sudden death, LMNA, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, death, Physiology (medical), Internal medicine, defibrillators, medicine, Humans, In patient, 030212 general & internal medicine, sudden, [SDV.GEN]Life Sciences [q-bio]/Genetics, Prediction score, business.industry, Defibrillators, Implantable, ventricular, Tachycardia, Ventricular, Cardiology, Female, medicine.symptom, Cardiomyopathies, Cardiology and Cardiovascular Medicine, business
Abstract: Background: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Methods: We included 839 adult patients with LMNA mutations, including 660 from a French nationwide registry in the development sample, and 179 from other countries, referred to 5 tertiary centers for cardiomyopathies, in the validation sample. LTVTA was defined as (1) sudden cardiac death or (2) implantable cardioverter defibrillator–treated or hemodynamically unstable VTA. The prognostic model was derived using the Fine-Gray regression model. The net reclassification was compared with current clinical practice guidelines. The results are presented as means (SD) or medians [interquartile range]. Results: We included 444 patients, 40.6 (14.1) years of age, in the derivation sample and 145 patients, 38.2 (15.0) years, in the validation sample, of whom 86 (19.3%) and 34 (23.4%) experienced LTVTA over 3.6 [1.0–7.2] and 5.1 [2.0–9.3] years of follow-up, respectively. Predictors of LTVTA in the derivation sample were: male sex, nonmissense LMNA mutation, first degree and higher atrioventricular block, nonsustained ventricular tachycardia, and left ventricular ejection fraction (https://lmna-risk-vta.fr). In the derivation sample, C-index (95% CI) of the model was 0.776 (0.711–0.842), and the calibration slope 0.827. In the external validation sample, the C-index was 0.800 (0.642–0.959), and the calibration slope was 1.082 (95% CI, 0.643–1.522). A 5-year estimated risk threshold ≥7% predicted 96.2% of LTVTA and net reclassified 28.8% of patients with LTVTA in comparison with the guidelines-based approach. Conclusions: In comparison with the current standard of care, this risk prediction model for LTVTA in laminopathies significantly facilitated the choice of candidates for implantable cardioverter defibrillators. Clinical Trial Registration: URL: https://www.clinicaltrials.gov . Unique identifier: NCT03058185.
Published: 2019
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3. Different Impact of the Number of Organ Failures and Graft-Versus-Host Disease on the Outcome of Allogeneic Stem Cell Transplantation Recipients Requiring Intensive Care

Author: Philippe Guardiola, Sylvie François, François Beloncle, Sylvain Thepot, Mathilde Hunault-Berger, Achille Kouatchet, Norbert Ifrah, Jean-François Hamel, Jonathan Farhi, Aline Tanguy-Schmidt, Alain Mercat, Mélanie Mercier, Corentin Orvain, Pierre Asfar, Service des maladies du sang [Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de Réanimation Médicale et de Médecine Hyperbare [Angers], Centre de Recherche Clinique (CRC Angers), Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), Plateforme SNP, Transcriptome & Epigénomique, and Bernardo, Elizabeth
Subjects: Male, Time Factors, medicine.medical_treatment, Graft vs Host Disease, Kaplan-Meier Estimate, law.invention, Patient Admission, 0302 clinical medicine, Risk Factors, law, Odds Ratio, Hospital Mortality, Middle Aged, Intensive care unit, Patient Discharge, 3. Good health, Intensive Care Units, Treatment Outcome, 030220 oncology & carcinogenesis, Female, France, Adult, medicine.medical_specialty, Critical Care, Multiple Organ Failure, [SDV.CAN]Life Sciences [q-bio]/Cancer, Risk Assessment, 03 medical and health sciences, [SDV.CAN] Life Sciences [q-bio]/Cancer, Intensive care, medicine, Humans, Transplantation, Homologous, Renal replacement therapy, Proportional Hazards Models, Retrospective Studies, Mechanical ventilation, Transplantation, Chi-Square Distribution, business.industry, Retrospective cohort study, Odds ratio, medicine.disease, Surgery, Logistic Models, Graft-versus-host disease, Multivariate Analysis, business, Stem Cell Transplantation, 030215 immunology
Abstract: International audience; Background. Admission of allogeneic stem cell transplantation (SCT) recipients to the intensive care unit (ICU) remains controversial , especially when graft-versus-host disease (GVHD) is present. Methods. We performed a retrospective study to assess prognostic factors of survival in all allogeneic SCT recipients admitted to the ICU between 2002 and 2013 in our center which has flexible admission criteria, especially regarding GVHD. Results. Of 349 patients who underwent allogeneic SCT during the study period, 92 patients (26%) were admitted to the ICU. Intensive care unit and hospital discharge rates were 66% and 46%, respectively , whereas 1 year survival was 24%. Acute GVHD, either grade III to IV (30 patients, 33%) or refractory (12 patients, 13%) had a nonsignificant impact on hospital mortality (odds ratio [OR], 2.1; P = 0.1; OR, 5, P = 0.05, respectively). Fifty percent of patients required invasive mechanical ventilation, 30% required vasopressors, 17% required renal replacement therapy, and 28% had liver impairment (bilirubin >34 μmol/L), each of these parameters defining organ failure. Mortality was closely associated with the number of organ failures as hospital discharge rates were 69%, 50%, 42%, and 0% among patients with 0 (26 patients), 1 (26 patients), 2 (26 patients), and 3 to 4 (14 patients) organ failures, respectively (OR, 2.7; 95% confidence interval, 1.6-4.6; P < 0.001 according to the number of organ failures). Conclusions. Early mortality of allogeneic SCT recipients admitted to the ICU is especially influenced by the number of organ failures and therefore patients with 0 to 2 organ failures should be considered if required. Refractory GVHD affects survival but not within the confined ICU admission.
Published: 2017
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4. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains ofKCNH5

Author: Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia D. Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A. Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Elizabeth E. Gerard, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill, University of Otago [Dunedin, Nouvelle-Zélande], University of Washington [Seattle], Epilepsy Research Centre, University of Melbourne, Duke University Medical Center, Institute for Genomic Medicine [New York, NY, USA], Columbia University [New York], Columbia University Irving Medical Center (CUIMC), University of Southern Denmark (SDU), Zealand University Hospital [Roskilde, Denmark], University of British Columbia [Vancouver], University College Dublin [Dublin] (UCD), Kasturba Medical College, Manipal, Center for Individualized Medicine, Stanford University School of Medicine [CA, USA], Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Institut de Génétique Médicale [CHRU Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University of Bologna/Università di Bologna, GeneDx [Gaithersburg, MD, USA], Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Neurology (clinical), Research Article
Abstract: Background and ObjectivesKCNH5encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novoKCNH5variants.MethodsWe screened 893 individuals with developmental and epileptic encephalopathies forKCNH5variants using targeted or exome sequencing. Additional individuals withKCNH5variants were identified through an international collaboration. Clinical history, EEG, and imaging data were analyzed; seizure types and epilepsy syndromes were classified. We included 3 previously published individuals including additional phenotypic details.ResultsWe report a cohort of 17 patients, including 9 with a recurrent de novo missense variant p.Arg327His, 4 with a recurrent missense variant p.Arg333His, and 4 additional novel missense variants. All variants were located in or near the functionally critical voltage-sensing or pore domains, absent in the general population, and classified as pathogenic or likely pathogenic using the American College of Medical Genetics and Genomics criteria. All individuals presented with epilepsy with a median seizure onset at 6 months. They had a wide range of seizure types, including focal and generalized seizures. Cognitive outcomes ranged from normal intellect to profound impairment. Individuals with the recurrent p.Arg333His variant had a self-limited drug-responsive focal or generalized epilepsy and normal intellect, whereas the recurrent p.Arg327His variant was associated with infantile-onset DEE. Two individuals with variants in the pore domain were more severely affected, with a neonatal-onset movement disorder, early-infantile DEE, profound disability, and childhood death.DiscussionWe describe a cohort of 17 individuals with pathogenic or likely pathogenic missense variants in the voltage-sensing and pore domains of Kv10.2, including 14 previously unreported individuals. We present evidence for a putative emerging genotype-phenotype correlation with a spectrum of epilepsy and cognitive outcomes. Overall, we expand the role of EAG proteins in human disease and establishKCNH5as implicated in a spectrum of neurodevelopmental disorders and epilepsy.
Published: 2022
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5. Validity and Performance of Blood Biomarkers for Alzheimer Disease to Predict Dementia Risk in a Large Clinic-Based Cohort

Author: Planche, Vincent, Bouteloup, Vincent, Pellegrin, Isabelle, Mangin, Jean-Francois, Dubois, Bruno, Ousset, Pierre-Jean, Pasquier, Florence, Blanc, Frédéric, Paquet, Claire, Hanon, Olivier, Bennys, Karim, Ceccaldi, Mathieu, Annweiler, Cédric, Krolak-Salmon, Pierre, Godefroy, Olivier, Wallon, David, Sauvee, Mathilde, Boutoleau-Bretonnière, Claire, Bourdel-Marchasson, Isabelle, Jalenques, Isabelle, Chene, Genevieve, Dufouil, Carole, Université de Bordeaux (UB), Centre Mémoire de Ressources et de Recherches [Bordeaux], CHU Bordeaux [Bordeaux], Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Immunology from Concept and Experiments to Translation (ImmunoConcept), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'immunologie et d'immunogénétique [CHU Bordeaux], Université Paris-Saclay, Institut du Cerveau = Paris Brain Institute (ICM), 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), INSERM UMR 1287 Département d'hématologie, Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Optimisation thérapeutique en Neuropsychopharmacologie (OPTeN (UMR_S_1144 / U1144)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Groupe hospitalier Broca, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Angers (UA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Nantes Université - UFR Lettres et Langages (Nantes Univ - UFR LL), Nantes Université - pôle Humanités, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Humanités, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), SFR UA 4201 Confluences (CONFLUENCES), Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), 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)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), 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), Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), CHU Amiens-Picardie, CHU Rouen, Normandie Université (NU), Université de Rouen Normandie (UNIROUEN), Centre Mémoire de Ressources et de Recherche [Grenoble] (CMRR), Centre Hospitalier Universitaire [Grenoble] (CHU), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre de résonance magnétique des systèmes biologiques (CRMSB), Service d'Addictologie et Pathologie Duelles [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Université Fédérale Toulouse Midi-Pyrénées, Service Instrumentation Conception Caractérisation (LAAS-I2C), Laboratoire d'analyse et d'architecture des systèmes (LAAS), Université Toulouse 1 Capitole (UT1), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Université Fédérale Toulouse Midi-Pyrénées-Institut National des Sciences Appliquées (INSA)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse 1 Capitole (UT1), Université Fédérale Toulouse Midi-Pyrénées, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and 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)
Subjects: Neurology (clinical), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Background and ObjectiveBlood biomarkers for Alzheimer disease (AD) have consistently proven to be associated with CSF or PET biomarkers and effectively discriminate AD from other neurodegenerative diseases. Our aim was to test their utility in clinical practice, from a multicentric unselected prospective cohort where patients presented with a large spectrum of cognitive deficits or complaints.MethodsThe MEMENTO cohort enrolled 2,323 outpatients with subjective cognitive complaint (SCC) or mild cognitive impairment (MCI) consulting in 26 French memory clinics. Participants had neuropsychological assessments, MRI, and blood sampling at baseline. CSF sampling and amyloid PET were optional. Baseline blood Aβ42/40 ratio, total tau, p181-tau, and neurofilament light chain (NfL) were measured using a Simoa HD-X analyzer. An expert committee validated incident dementia cases during a 5-year follow-up period.ResultsOverall, 2,277 individuals had at least 1 baseline blood biomarker available (n = 357 for CSF subsample, n = 649 for PET subsample), among whom 257 were diagnosed with clinical AD/mixed dementia during follow-up. All blood biomarkers but total tau were mildly correlated with their equivalence in the CSF (r = 0.33 to 0.46,p< 0.0001) and were associated with amyloid-PET status (p< 0.0001). Blood p181-tau was the best blood biomarker to identify amyloid-PET positivity (area under the curve = 0.74 [95% CI = 0.69; 0.79]). Higher blood and CSF p181-tau and NfL concentrations were associated with accelerated time to AD dementia onset with similar incidence rates, whereas blood Aβ42/40 was less efficient than CSF Aβ42/40. Blood p181-tau alone was the best blood predictor of 5-year AD/mixed dementia risk (c-index = 0.73 [95% CI = 0.69; 0.77]); its accuracy was higher in patients with clinical dementia rating (CDR) = 0 (c-index = 0.83 [95% CI = 0.69; 0.97]) than in patients with CDR = 0.5 (c-index = 0.70 [95% CI = 0.66; 0.74]). A “clinical” reference model (combining demographics and neuropsychological assessment) predicted AD/mixed dementia risk with a c-index = 0.88 [95% CI = 0.86–0.91] and performance increased to 0.90 [95% CI = 0.88; 0.92] when adding blood p181-tau + Aβ42/40. A “research” reference model (clinical model + apolipoprotein E genotype and AD signature on MRI) had a c-index = 0.91 [95% CI = 0.89–0.93] increasing to 0.92 [95% CI = 0.90; 0.93] when adding blood p181-tau + Aβ42/40. Chronic kidney disease and vascular comorbidities did not affect predictive performances.DiscussionIn a clinic-based cohort of patients with SCC or MCI, blood biomarkers may be good hallmarks of underlying pathology but add little to 5-year dementia risk prediction models including traditional predictors.
Published: 2022
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6. Selective Involvement of Serum Response Factor in Pressure-Induced Myogenic Tone in Resistance Arteries

Author: Retailleau, Kevin, Toutain, Bertrand, Galmiche, Guillaume, Fassot, Celine, Sharif-Naeini, Reza, Kauffenstein, Gilles, Mericskay, Mathias, Duprat, Fabrice, Li, Linda, Mérot, Jean, Lardeux, Aurelie, Pizard, Anne, Baudrie, Véronique, Jeunemaitre, Xavier, Feil, Robert, Göthert, Joachim, Lacolley, Patrick, Henrion, Daniel, Li, Zhenlin, Loufrani, Laurent, Grimaud, L., Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiologie de la Nutrition et du Comportement Alimentaire (PNCA), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Université Pierre et Marie Curie - Paris 6 (UPMC), Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), UMR915, Nutrition et athérome, Institut National de la Santé et de la Recherche Médicale (INSERM), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique [AP-HP Hôpital Européen Georges Pompidou, Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Eberhard Karls Universität Tübingen, Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), 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)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique [CHU HEGP], 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), Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Biologie Neurovasculaire et Mitochondriale Intégrée, Université d'Angers ( UA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Physiologie de la Nutrition et du Comportement Alimentaire ( PNCA ), Institut National de la Recherche Agronomique ( INRA ) -AgroParisTech, Université Pierre et Marie Curie - Paris 6 ( UPMC ), Institut de pharmacologie moléculaire et cellulaire ( IPMC ), Université Nice Sophia Antipolis ( UNS ), Université Côte d'Azur ( UCA ) -Université Côte d'Azur ( UCA ) -Centre National de la Recherche Scientifique ( CNRS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Défaillance Cardiovasculaire Aiguë et Chronique ( DCAC ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lorraine ( UL ), Paris-Centre de Recherche Cardiovasculaire ( PARCC - U970 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Université Paris Descartes - Faculté de Médecine ( UPD5 Médecine ), Université Paris Descartes - Paris 5 ( UPD5 ), Institut de Génétique Moléculaire de Montpellier ( IGMM ), Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ), Universitätsklinikum Essen [Universität Duisburg-Essen] ( Uniklinik Essen ), Centre Hospitalier Universitaire d'Angers ( CHU Angers ), PRES Université Nantes Angers Le Mans ( UNAM ), Université Paris Descartes - Paris 5 (UPD5)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), and Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Serum Response Factor, MESH : RNA, Messenger, Vasodilator Agents, MESH: Vascular Resistance, MESH : Actins, MESH : Blotting, Western, Filamin, Mechanotransduction, Cellular, Muscle, Smooth, Vascular, MESH : Mechanotransduction, Cellular, Mice, Contractile Proteins, 0302 clinical medicine, MESH: Protein Kinase Inhibitors, MESH: Animals, MESH: Myosin-Light-Chain Kinase, MESH : Patch-Clamp Techniques, MESH : p38 Mitogen-Activated Protein Kinases, 0303 health sciences, Microscopy, Confocal, MESH : Vasoconstrictor Agents, MESH : Gene Expression Regulation, Electrical impedance myography, MESH : Reverse Transcriptase Polymerase Chain Reaction, Arteries, MESH : Vascular Resistance, MESH : Arterial Pressure, MESH: Serum Response Factor, MESH: Vasoconstriction, MESH : Tail, MESH : Vasoconstriction, Cardiology and Cardiovascular Medicine, Tail, medicine.medical_specialty, Blotting, Western, MESH: Myography, MESH: Actins, MESH : Vasodilator Agents, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Serum response factor, MESH: Membrane Potentials, MESH: Blotting, Western, MESH: Contractile Proteins, RNA, Messenger, MESH : Microscopy, Confocal, Myosin-Light-Chain Kinase, MESH: Arteries, Phenylephrine, Dose-Response Relationship, Drug, MESH: Mechanotransduction, Cellular, MESH : Muscle, Smooth, Vascular, MESH : Protein Kinase Inhibitors, MESH: Vasodilator Agents, Endocrinology, Vasoconstriction, Vascular Resistance, Patch-Clamp Techniques, Time Factors, Contraction (grammar), Medizin, MESH : Dose-Response Relationship, Drug, 030204 cardiovascular system & hematology, MESH : Filamins, p38 Mitogen-Activated Protein Kinases, MESH: Mice, Knockout, Membrane Potentials, MESH: Dose-Response Relationship, Drug, MESH : Vasodilation, MESH : Calcium Signaling, MESH: Reverse Transcriptase Polymerase Chain Reaction, Vasoconstrictor Agents, MESH : Membrane Potentials, MESH: Microscopy, Confocal, MESH : Contractile Proteins, MESH: Filamins, Mice, Knockout, MESH : Myography, Reverse Transcriptase Polymerase Chain Reaction, MESH: Real-Time Polymerase Chain Reaction, Microfilament Proteins, MESH: Tail, MESH: Muscle, Smooth, Vascular, [ SDV.MHEP.CSC ] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, MESH: Gene Expression Regulation, MESH: Myosin Light Chains, Vasodilation, MESH : Time Factors, medicine.drug, Myosin Light Chains, Myosin light-chain kinase, MESH : Microfilament Proteins, Filamins, MESH : Male, MESH: Arterial Pressure, MESH : Myosin Light Chains, MESH : Real-Time Polymerase Chain Reaction, Biology, Real-Time Polymerase Chain Reaction, MESH : Myosin-Light-Chain Kinase, MESH: Calcium Signaling, MESH: Vasodilation, MESH: Microfilament Proteins, MESH: Vasoconstrictor Agents, Internal medicine, MESH : Mice, MESH: Patch-Clamp Techniques, medicine, Animals, Arterial Pressure, Calcium Signaling, Patch clamp, Protein Kinase Inhibitors, MESH: Mice, Actin, MESH: RNA, Messenger, 030304 developmental biology, MESH: Time Factors, Myography, Actins, MESH : Arteries, MESH: Male, MESH: p38 Mitogen-Activated Protein Kinases, Gene Expression Regulation, MESH : Mice, Knockout, MESH : Serum Response Factor, MESH : Animals
Abstract: Objective— In resistance arteries, diameter adjustment in response to pressure changes depends on the vascular cytoskeleton integrity. Serum response factor (SRF) is a dispensable transcription factor for cellular growth, but its role remains unknown in resistance arteries. We hypothesized that SRF is required for appropriate microvascular contraction. Methods and Results— We used mice in which SRF was specifically deleted in smooth muscle or endothelial cells, and their control. Myogenic tone and pharmacological contraction was determined in resistance arteries. mRNA and protein expression were assessed by quantitative real-time PCR (qRT-PCR) and Western blot. Actin polymerization was determined by confocal microscopy. Stress-activated channel activity was measured by patch clamp. Myogenic tone developing in response to pressure was dramatically decreased by SRF deletion (5.9±2.3%) compared with control (16.3±3.2%). This defect was accompanied by decreases in actin polymerization, filamin A, myosin light chain kinase and myosin light chain expression level, and stress-activated channel activity and sensitivity in response to pressure. Contractions induced by phenylephrine or U46619 were not modified, despite a higher sensitivity to p38 blockade; this highlights a compensatory pathway, allowing normal receptor-dependent contraction. Conclusion— This study shows for the first time that SRF has a major part to play in the control of local blood flow via its central role in pressure-induced myogenic tone in resistance arteries.
Published: 2013
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7. Imaging Features of Hepatic Small Vessel Neoplasm: Case Series

Author: Jérôme Lebigot, Sophie Michalak, Sarah Bellal, Christophe Aubé, Anita Paisant, Clémence M. Canivet, Département de Radiologie [CHU de Rennes], Université de Rennes (UR), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Laboratoire de Pathologie Cellulaire et Tissulaire, PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)
Subjects: Male, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Computed tomography, Diagnosis, Differential, Hemangioma, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Neoplasm, Liver neoplasm, ComputingMilieux_MISCELLANEOUS, Aged, Ultrasonography, 030304 developmental biology, 0303 health sciences, Hepatology, medicine.diagnostic_test, business.industry, Liver Neoplasms, Magnetic resonance imaging, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Vascular Neoplasms, eye diseases, Liver, 030220 oncology & carcinogenesis, Female, sense organs, Small vessel, Radiology, Tomography, X-Ray Computed, business, Contrast-enhanced ultrasound
Abstract: Hepatic small vessel neoplasm is a new entity with a characteristic appearance in imaging and must be recognized and differentiated from hemangioma to allow appropriate management.
Published: 2021
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8. Software for Unbiased Estimation of Attributable Risk

Author: Jean-François Hamel, Marcel Goldberg, Natacha Fouquet, Catherine Ha, Yves Roquelaure, Laboratoire d'Ergonomie et d'Épidémiologie en Santé au Travail (LEEST), Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Institut de Veille Sanitaire (INVS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre Hospitalier Universitaire d'Angers (CHU Angers), and PRES Université Nantes Angers Le Mans (UNAM)
Subjects: Male, Risk, Data Interpretation, Epidemiology, [SDV]Life Sciences [q-bio], carpal tunnel syndrome, Unbiased Estimation, 01 natural sciences, 010104 statistics & probability, 03 medical and health sciences, 0302 clinical medicine, Software, Bias, Statistics, medicine, Humans, 030212 general & internal medicine, 0101 mathematics, Carpal tunnel syndrome, ComputingMilieux_MISCELLANEOUS, Bias (Epidemiology), business.industry, Data interpretation, Statistical, medicine.disease, Data Interpretation, Statistical, Attributable risk, Female, business
Abstract: International audience
Published: 2012
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9. Promoting commitment in academic careers: a major challenge for emergency medicine

Author: Douillet, Delphine, Javaudin, François, Laribi, Saïd, Le Conte, Philippe, Montassier, Emmanuel, Peschanski, Nicolas, Querellou, Emgan, Savary, Dominique, Soulat, Louis, Roy, Pierre-Marie, Batard, Eric, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Nantes (CHU Nantes), Cibles et Médicaments des Infections et de l'Immunité (IICiMed), Nantes Université - UFR des Sciences Pharmaceutiques et Biologiques (Nantes Univ - UFR Pharmacie), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Université de Rennes - Faculté de Médecine (UR Médecine), Université de Rennes (UR), CHU Pontchaillou [Rennes], Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), 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 ), and École des Hautes Études en Santé Publique [EHESP] (EHESP)
Subjects: Academic Medical Centers, Career Choice, [SDV]Life Sciences [q-bio], Surveys and Questionnaires, Emergency Medicine, Humans, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2022
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10. Quetiapine Poisoning and Factors Influencing Severity

Author: David Boels, Anne-Lise Rolland, Elise Peridy, Bénédicte Gohier, Jean-François Hamel, Centre de recherche clinique, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), and Centres antipoison et de toxicovigilance (CAPTV Angers)
Subjects: Adult, Male, Dibenzothiazepines, medicine.medical_specialty, Poison Control Centers, medicine.drug_class, medicine.medical_treatment, Poison control, Atypical antipsychotic, Antipsychotic, Quetiapine Fumarate, 03 medical and health sciences, 0302 clinical medicine, [SDV.SP.MED]Life Sciences [q-bio]/Pharmaceutical sciences/Medication, Risk Factors, Tachycardia, Internal medicine, Poison Control Centre, medicine, Humans, Pharmacology (medical), Coma, Adverse effect, Retrospective Studies, Quetiapine, business.industry, Poisoning, [SCCO.NEUR]Cognitive science/Neuroscience, Retrospective cohort study, Odds ratio, Confidence interval, 3. Good health, 030227 psychiatry, Psychiatry and Mental health, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SCCO.PSYC]Cognitive science/Psychology, Female, Psychiatric, France, Drug Overdose, Hypotension, business, 030217 neurology & neurosurgery, Antipsychotic Agents, medicine.drug
Abstract: Purpose/background Quetiapine is a relatively new atypical antipsychotic with fewer adverse effects. It is increasingly prescribed to patients. The purpose of this study was to describe the cases of poisoning observed at the western France Poison Control Centre and identify potential risk factors that increase the severity of the cases. Methods This was a retrospective study of self-poisoning with quetiapine as reported by the western France Poison Control Centre between 2007 and 2017. Results There were 372 cases of quetiapine poisoning. Circumstances are known in 367 of 372 cases. There were 75 cases of null severity (grade 0), 133 cases of mild severity (grade 1), 85 cases of moderate severity (grade 2), and 79 cases of high severity (grade 3). Five deaths were listed in this series. The most commonly observed symptoms were neurological and cardiovascular in nature (drowsiness, coma, tachycardia, hypotension). Of these cases, 79.8% included voluntary ingestions. Among 302 cases with coagents, the most common coagents were benzodiazepines (56%), other psychotropic drugs (41%), and antidepressants (37%). An evaluated ingested dose 1500 mg or greater and 2 or more coagents increase the risk of severe poisoning. In particular, concomitant ingestion of benzodiazepines and antidepressants with quetiapine was associated with high severity (odds ratio, 2.478 [confidence interval, 1.3-4.723]; odds ratio, 1.820 [confidence interval, 1.010-3.316]). Conclusions Quetiapine may lead to severe poisoning for which there is currently no specific treatment. Patients and practitioners should be aware of this when quetiapine is prescribed, particularly when used in combination with other medications, and in order to deal with cases of poisoning.
Published: 2019
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11. Perioperative Transcutaneous Tibial Nerve Stimulation to Reduce Postoperative Ileus After Colorectal Resection: A Pilot Study

Author: A. Hamy, Aurélien Venara, Stéphanie Mucci, Michel Neunlist, Julien Barbieux, Annabelle Lemoult, Marie Bougard, Paul Le Naoures, Astrid Darsonval, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Pontchaillou [Rennes], Université de Rennes (UR), Université d'Angers (UA), The Enteric Nervous System in gut and brain disorders [U1235] (TENS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), and Hémodynamique, Interaction Fibrose et Invasivité tumorales Hépatiques (HIFIH)
Subjects: Male, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Pilot Projects, Stimulation, 030230 surgery, Placebo, law.invention, 03 medical and health sciences, Ileus, Postoperative Complications, 0302 clinical medicine, Randomized controlled trial, law, Sensation, Humans, Medicine, MESH: Aged Colectomy / adverse effects* Female France Gastrointestinal Motility / physiology Humans Ileus / epidemiology Ileus / prevention & control* Intention to Treat Analysis Male Middle Aged Pilot Projects Postoperative Complications / prevention & control* Tibial Nerve / physiology Transcutaneous Electric Nerve Stimulation / adverse effects Transcutaneous Electric Nerve Stimulation / methods* Treatment Outcome, Colectomy, Aged, Intention-to-treat analysis, business.industry, Gastroenterology, General Medicine, Perioperative, Middle Aged, Neuromodulation (medicine), Intention to Treat Analysis, Treatment Outcome, 030220 oncology & carcinogenesis, Anesthesia, Transcutaneous Electric Nerve Stimulation, Female, France, Tibial Nerve, Gastrointestinal Motility, business
Abstract: International audience; Background: Postoperative ileus involves an inflammatory pathway characterized by an increase of inflammation mediators in the colon wall; this could probably be prevented by sacral nerve neuromodulation. The posterior tibial nerve can be stimulated electrically to mimic neuromodulation.Objective: The aims of this study were to assess the efficacy of transcutaneous posterior tibial nerve stimulation in reducing the delay in GI motility recovery, to assess the safety of posterior tibial nerve stimulation in a perioperative setting, and to assess the efficacy of posterior tibial nerve stimulation in reducing the occurrence of postoperative ileus.Design: This was a preliminary randomized controlled study.Settings: This study was conducted in 1 academic hospital in France.Patients: Forty patients undergoing an elective colectomy were included and randomly assigned into 2 groups, posterior tibial nerve stimulation or placebo, according to the side of colectomy and the surgical access size.Intervention: Perioperative posterior tibial nerve stimulation or placebo was performed 3 times per day according to the randomly assigned group.Main outcome measures: Delay in GI motility recovery (passage of stool and tolerance of solid food) was measured.Results: Of the 40 patients included, 34 were included in the final analysis, in which 2 patients in the placebo group were allocated the incorrect device. The 6 other patients were secondarily excluded because of protocol deviation. In the intention-to-treat analysis, the mean delay in GI motility recovery was 3.6 and 3.11 days (in the placebo and tibial nerve stimulation groups; p = 0.60). Occurrence of postoperative ileus was not significantly higher in the placebo group (35.3% vs 17.6%; p = 0.42). In the per-protocol analysis, we observed the same trends except for the occurrence of postoperative ileus, which was significantly higher in the placebo group (p = 0.045). Tolerance to posterior tibial nerve stimulation was good, and all of the patients completed the protocol.Limitations: The amplitude of stimulation is set according to patient sensation, so some patients could have been aware of their group. In addition there were some inherent limitations because of the preliminary nature of the study and several deviations from the protocol.Conclusions: Posterior tibial nerve stimulation was safe in a perioperative setting and had a potential effect on GI motility recovery. The results of this study will be useful for sample size calculations in a larger prospective randomized trial. See Video Abstract at http://links.lww.com/DCR/A708.
Published: 2018
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12. Re: Vitamin D and Calcium Supplementation Accelerates Randall’s Plaque Formation in a Murine Model

Author: Joëlle Perez, Elise Bouderlique, Ellie Tang, Isabelle Rubera, Michel Daudon, Ludovic Martin, Dominique Bazin, Marie-Christine Verpont, Georges Leftheriotis, Jean-Philippe Haymann, Emmanuel Letavernier, Amélie E. Coudert, Christophe Duranton, Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Chimie Physique D'Orsay (LCPO), Université Paris-Sud - Paris 11 (UP11)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de PhysioMédecine Moléculaire (LP2M), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Service d'Explorations fonctionnelles multidisciplinaires [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), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Dermatologie [CHU Angers] (PXE - le PseudoXanthome Elastique), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Service de Physiologie [CHU Tenon], and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Tenon [APHP]
Subjects: Time Factors, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Calcium oxalate, 030204 cardiovascular system & hematology, Mice, chemistry.chemical_compound, 0302 clinical medicine, Calcium supplementation, Medicine, Hypercalciuria, Vitamin D, 2. Zero hunger, Mice, Knockout, Kidney, Kidney Medulla, [SDV.BA]Life Sciences [q-bio]/Animal biology, Calcinosis, 3. Good health, medicine.anatomical_structure, Renal papilla, Disease Progression, Female, Multidrug Resistance-Associated Proteins, Vitamin, medicine.medical_specialty, Mice, 129 Strain, Urology, chemistry.chemical_element, Calcium, Pathology and Forensic Medicine, 03 medical and health sciences, Kidney Calculi, Internal medicine, Vitamin D and neurology, Animals, Calcium Oxalate, business.industry, medicine.disease, Staining, Calcium, Dietary, Mice, Inbred C57BL, Disease Models, Animal, Endocrinology, chemistry, Murine model, Dietary Supplements, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, Kidney stones, business
Abstract: International audience; Most kidney stones are made of calcium oxalate crystals. Randall's plaque, an apatite deposit at the tip of the renal papilla, is considered to at the origin of these stones. Hypercalciuria may promote Randall's plaque formation and growth. We analyzed whether long-term exposure of Abcc6-/- mice (a murine model of Randall's plaque) to vitamin D supplementation, with or without a calcium-rich diet, would accelerate the formation of Randall's plaque. Eight groups of mice (including Abcc6-/- and wild type) received vitamin D alone (100,000 UI/kg every 2 weeks), a calcium-enriched diet alone (calcium gluconate 2 g/L in drinking water), both vitamin D supplementation and a calcium-rich diet, or a standard diet (controls) for 6 months. Kidney calcifications were assessed by 3-dimensional microcomputed tomography, μ-Fourier transform infrared spectroscopy, field emission-scanning electron microscopy, transmission electron microscopy, and Yasue staining. At 6 months, Abcc6-/- mice exposed to vitamin D and calcium supplementation developed massive Randall's plaque when compared with control Abcc6-/- mice (P < 0.01). Wild-type animals did not develop significant calcifications when exposed to vitamin D. Combined administration of vitamin D and calcium significantly accelerates Randall's plaque formation in a murine model. This original model raises concerns about the cumulative risk of vitamin D supplementation and calcium intakes in Randall's plaque formation.
Published: 2020
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13. Genetic Association Analyses Highlight IL6 , ALPL , and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis

Author: Sébastien Thériault, Christian Dina, David Messika-Zeitoun, Solena Le Scouarnec, Romain Capoulade, Nathalie Gaudreault, Sidwell Rigade, Zhonglin Li, Floriane Simonet, Maxime Lamontagne, Marie-Annick Clavel, Benoit J. Arsenault, Anne-Sophie Boureau, Simon Lecointe, Estelle Baron, Stéphanie Bonnaud, Matilde Karakachoff, Eric Charpentier, Imen Fellah, Jean-Christian Roussel, Jean Philippe Verhoye, Christophe Baufreton, Vincent Probst, Ronan Roussel, Richard Redon, François Dagenais, Philippe Pibarot, Patrick Mathieu, Thierry Le Tourneau, Yohan Bossé, Jean-Jacques Schott, B. Balkau, P. Ducimetière, E. Eschwège, F. Alhenc-Gelas, A. Girault, F. Fumeron, M. Marre, F. Bonnet, A. Bonnefond, P. Froguel, F. Rancière, J. Cogneau, C. Born, E. Caces, M. Cailleau, O Lantieri, J.G. Moreau, F. Rakotozafy, J. Tichet, S. Vol, Université Laval, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hémostase, bio-ingénierie et remodelage cardiovasculaires (LBPC), Université Paris Diderot - Paris 7 (UPD7)-Université Paris 13 (UP13)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Galilée, CHU Pontchaillou [Rennes], Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de chirurgie cardio-vasculaire et thoracique, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université Laval [Québec] (ULaval), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Institut Galilée-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and École pratique des hautes études (EPHE)
Subjects: 0301 basic medicine, aortic valve stenosis, Genome-wide association study, Disease, 030204 cardiovascular system & hematology, Bioinformatics, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, medicine, Interleukin 6, ComputingMilieux_MISCELLANEOUS, Genetic association, biology, business.industry, interleukin-6, ALPL, Calcific aortic valve stenosis, General Medicine, medicine.disease, 3. Good health, 030104 developmental biology, Aortic valve stenosis, biology.protein, [SDV.IB]Life Sciences [q-bio]/Bioengineering, business, transcriptome, Genome-Wide Association Study
Abstract: Background: Calcific aortic valve stenosis (CAVS) is a frequent and life-threatening cardiovascular disease for which there is currently no medical treatment available. To date, only 2 genes, LPA and PALMD , have been identified as causal for CAVS. We aimed to identify additional susceptibility genes for CAVS. Methods: A GWAS (genome-wide association study) meta-analysis of 4 cohorts, totaling 5115 cases and 354 072 controls of European descent, was performed. A TWAS (transcriptome-wide association study) was completed to integrate transcriptomic data from 233 human aortic valves. A series of post-GWAS analyses were performed, including fine-mapping, colocalization, phenome-wide association studies, pathway, and tissue enrichment as well as genetic correlation with cardiovascular traits. Results: In the GWAS meta-analysis, 4 loci achieved genome-wide significance, including 2 new loci: IL6 (interleukin 6) on 7p15.3 and ALPL (alkaline phosphatase) on 1p36.12. A TWAS integrating gene expression from 233 human aortic valves identified NAV1 (neuron navigator 1) on 1q32.1 as a new candidate causal gene. The CAVS risk alleles were associated with higher mRNA expression of NAV1 in valve tissues. Fine-mapping identified rs1800795 as the most likely causal variant in the IL6 locus. The signal identified colocalizes with the expression of the IL6 RNA antisense in various tissues. Phenome-wide association analyses in the UK Biobank showed colocalized associations between the risk allele at the IL6 lead variant and higher eosinophil count, pulse pressure, systolic blood pressure, and carotid artery procedures, implicating modulation of the IL6 pathways. The risk allele at the NAV1 lead variant colocalized with higher pulse pressure and higher prevalence of carotid artery stenosis. Association results at the genome-wide scale indicated genetic correlation between CAVS, coronary artery disease, and cardiovascular risk factors. Conclusions: Our study implicates 3 new genetic loci in CAVS pathogenesis, which constitute novel targets for the development of therapeutic agents.
Published: 2019
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14. Does Contralesional Hand Function After Neonatal Stroke Only Depend on Lesion Characteristics?

Author: Dinomais, Mickaël, Hertz-Pannier, L., Groeschel, Samuel, Delion, M., Husson, B., Kossorotoff, M., Renaud, C., Chabrier, S., Nguyen The Tich, Sylvie, Study, AVCnn, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), Département de Médecine Physique et de Réadaptation , CHU Angers , Angers , France., UNIACT-Neurospin, CEA-Saclay, InsermU1129 and Paris-Descartes University, Sorbonne Paris-Cité, Paris, France, Department of Child Neurology, University Hospital Tübingen, Tübingen, Germany, Département de Neurochirurgie [CHU Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Pediatric Radiology Department, University Hospital Bicêtre, Pediatric Neurology Department, University Hospital Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Pediatric PRM Department, University Hospital Saint-Étienne, Saint-Étienne, France, Pediatric Neurology Department and Environnement Périnatale et Santé, University Hospital Lille, Lille University, Lille, France, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Male, medicine.medical_specialty, Internal capsule, [SDV]Life Sciences [q-bio], Corpus callosum, Infant, Newborn, Diseases, Brain Ischemia, White matter, Brain ischemia, 03 medical and health sciences, 0302 clinical medicine, atrophy, 030225 pediatrics, Internal medicine, medicine, Humans, magnetic resonance imaging, Gray Matter, Child, Neonatal stroke, Advanced and Specialized Nursing, cerebral palsy, cerebral peduncle, medicine.diagnostic_test, business.industry, Cerebral peduncle, Infant, Newborn, Magnetic resonance imaging, Anatomy, Hand, medicine.disease, White Matter, stroke, medicine.anatomical_structure, dexterity, Motor Skills, Corticospinal tract, Cardiology, Female, Neurology (clinical), Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery, motor system
Abstract: Background and Purpose— In children having suffered from neonatal arterial ischemic stroke, the relationship between contralesional hand performance and structural changes in brain areas remote from the infarct site was examined. Methods— Using voxel-based morphometry, we correlated contralesional gross manual dexterity assessed by the box and block test and whole-brain gray and white-matter volume changes on high-resolution magnetic resonance imaging in 37 7-year-old post–neonatal arterial ischemic stroke children. We also compared the volume of the identified structures with magnetic resonance imaging data of 10 typically developing age-matched children. Results— Areas showing the highest positive correlation with the box and block test scores were ipsilesional mediodorsal thalamus, contralesional cerebellar lobule VIIa Crus I, and ipsilesional corticospinal tract at the level of superior corona radiata, the posterior limb of the internal capsule, and the cerebral peduncle and the ipsilesional body of corpus callosum. When compared with typically developing age-matched children, post–neonatal arterial ischemic stroke children with severe contralesional hand motor deficit exhibited significant volume reductions in these structures (except the cerebellum), whereas no differences were found with those with good manual dexterity. No negative correlation was found between box and block test scores and brain areas. Conclusions— Contralesional hand performance after neonatal arterial ischemic stroke is correlated with atrophy in brain areas directly or functionally connected but anatomically remote from the infarct. Our study suggests a role of the cerebellar lobule VIIa Crus I and mediodorsal thalamus in manual dexterity. Clinical Trial Registration— URL: https://clinicaltrials.gov . Unique identifier: NCT02511249.
Published: 2016
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15. Colorectal neuroendocrine carcinomas and adenocarcinomas share oncogenic pathways. A clinico-pathologic study of 12 cases

Author: Hélène Blons, Emmanuel Mitry, Frédérique Penault-Llorca, Raymond Karkouche, Jean-François Emile, Jean-Baptiste Bachet, Christophe Penna, Jean-Paul Saint André, Philippe Rougier, Jean-François Côté, Jeremy Sandrini, Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Ambroise Paré [AP-HP], Institut de Recherches Cliniques de Montréal (IRCM), Université de Montréal (UdeM), Bases moléculaires de la réponse aux xénobiotiques (U775 (IFR95)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Groupe d'Étude des Interactions Hôte-Pathogène (GEIHP), Université d'Angers (UA), Service d'Hépato-Gastro-Entérologie [CHU Pitié-Salpêtrière], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Male, Time Factors, Oncogene Proteins, Fusion, endocrine system diseases, Colorectal cancer, [SDV]Life Sciences [q-bio], medicine.medical_treatment, DNA Mutational Analysis, malignant tumor, medicine.disease_cause, 0302 clinical medicine, Antineoplastic Combined Chemotherapy Protocols, In Situ Hybridization, Cancer, 0303 health sciences, rectal disease, Gastroenterology, Middle Aged, 3. Good health, colorectal adenocarcinoma, Phenotype, Treatment Outcome, 030220 oncology & carcinogenesis, Disease Progression, Female, KRAS, Colorectal Neoplasms, intestinal disease, neuroendocrine tumor, Adenoma, Adult, Proto-Oncogene Proteins B-raf, In situ hybridization, Adenocarcinoma, colonic disease, BRAF, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, colorectal carcinoma, oncogenesis, Proto-Oncogene Proteins, medicine, Carcinoma, Humans, Endocrine system, Genetic Predisposition to Disease, RNA, Messenger, neoplasms, Aged, Retrospective Studies, 030304 developmental biology, Chemotherapy, Hepatology, business.industry, Histology, medicine.disease, digestive system diseases, Carcinoma, Neuroendocrine, Mutation, ras Proteins, Cancer research, Digestive diseases, business, V600E
Abstract: International audience; OBJECTIVE:Neuroendocrine carcinomas (NECs) are rare neoplasms with an increasing incidence. Oncogenetic pathways of colorectal NEC are still poorly understood, and no treatment standards are available for these rare tumors.METHODS:We analyzed retrospectively the clinical records and histology of 12 patients with colorectal NEC. KRAS and BRAF mutations were investigated after the dissection of exoendocrine and neuroendocrine components. ALK alterations and EML4-ALK transcripts were detected by in-situ hybridization and determination of fusion transcripts, respectively.RESULTS:At the time of diagnosis, the mean age of the patients was 60 years (40-79) and 10 patients had synchronous metastases. A transient response occurred in two patients and one patient treated with cisplatin-etoposide or fluoropyrimidine-oxaliplatin, respectively. Tumor progression-related death occurred in 11 of 12 patients. Ten tumors contained an exocrine component, accounting for 5-70% of the tumor, and the other two contained an amphicrine component. BRAF/KRAS mutations were found in six of 10 tumors, corresponding to BRAF(V600E) (n=2) or KRAS(G12D) (n=2), KRAS(G12V) or KRAS(G13D). DNA was obtained from both exocrine and endocrine components in seven cases, and the BRAF/KRAS status was identical in all cases. Split of the ALK locus was detected in a minority of tumor cells in two of eight cases, but EML4-ALK transcripts were absent.CONCLUSION:The association of an exocrine component in all cases and the similar profile of BRAF/KRAS mutations indicate that colorectal NEC may correspond to a high-grade transformation of colorectal carcinoma. New chemotherapy regimens using targeted therapies should be assessed in these tumors.
Published: 2012
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16. Chronic sciatic nerve injury impairs the local cutaneous neurovascular interaction in rats

Author: Gérard Morel, Julien Pelletier, Bérengère Fromy, Yves Roquelaure, Jean Louis Saumet, Dominique Sigaudo-Roussel, Laboratoire d'Ergonomie et d'Épidémiologie en Santé au Travail (LEEST), Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), and PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Institut de Veille Sanitaire (INVS)
Subjects: Male, [SDV]Life Sciences [q-bio], Wistar, Nerve fiber, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Peripheral Nerves, Rats, Wistar, Carpal tunnel syndrome, Pain Measurement, Skin, 030304 developmental biology, 0303 health sciences, business.industry, Nerve Compression Syndromes, Nerve injury, Sciatic nerve injury, Neurovascular bundle, medicine.disease, Sciatic Nerve, Rats, Anesthesiology and Pain Medicine, medicine.anatomical_structure, Nociception, Neurology, Anesthesia, Neurology (clinical), Sciatic nerve, Sciatic Neuropathy, medicine.symptom, Epineurial repair, business, 030217 neurology & neurosurgery
Abstract: International audience; Most studies of chronic nerve compression focus on large nerve function in painful conditions, and only few studies have assessed potential changes in the function of small nerve fibers during chronic nerve compression and recovery from compression. Cutaneous pressure-induced vasodilation is a neurovascular phenomenon that relies on small neuropeptidergic fibers controlling the cutaneous microvasculature. We aimed to characterize potential changes in function of these small fibers and/or in cutaneous microvascular function following short-term (1-month) and long-term (6-month) nerve compression and after release of compression (ie, potential recovery of function). A compressive tube was left on one sciatic nerve for 1 or 6 months and then removed for 1-month recovery in Wistar rats. Cutaneous vasodilator responses were measured by laser Doppler flowmetry in hind limb skin innervated by the injured nerve to assess neurovascular function. Nociceptive thermal and low mechanical thresholds were evaluated to assess small and large nerve fiber functions, respectively. Pressure-induced vasodilation was impaired following nerve compression and restored following nerve release; both impairment and restoration were strongly related to duration of compression. Small and large nerve fiber functions were less closely related to duration of compression. Our data therefore suggest that cutaneous pressure-induced vasodilation provides a non-invasive and mechanistic test of neurovascular function that gives direct information regarding extent and severity of damage during chronic nerve compression and recovery, and may ultimately provide a clinically useful tool in the evaluation of nerve injury such as carpal tunnel syndrome.
Published: 2012
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17. Multidisciplinary Intensive Functional Restoration Versus Outpatient Active Physiotherapy in Chronic Low Back Pain

Author: G. Roche-Leboucher, Serge Fanello, D. Penneau-Fontbonne, Dubus-Bausière, Yves Roquelaure, L. Bontoux, A. Petit-LeManac’h, E. Parot-Shinkel, Natacha Fouquet, Isabelle Richard, Erick Legrand, Laboratoire d'Ergonomie et d'Épidémiologie en Santé au Travail (LEEST), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Université d'Angers (UA)-Institut de Veille Sanitaire (INVS), Groupe d'Études Remodelage Osseux et bioMatériaux (GEROM), and Université d'Angers (UA)
Subjects: Adult, Male, Occupational therapy, medicine.medical_specialty, Time Factors, Activities of daily living, [SDV]Life Sciences [q-bio], Population, Interdisciplinary Studies, law.invention, Treatment and control groups, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Randomized controlled trial, law, medicine, Humans, Orthopedics and Sports Medicine, 030212 general & internal medicine, Lost to follow-up, education, Physical Therapy Modalities, Pain Measurement, education.field_of_study, business.industry, Chronic pain, Recovery of Function, Middle Aged, medicine.disease, Low back pain, Exercise Therapy, 3. Good health, Psychotherapy, Treatment Outcome, Physical therapy, Female, Lost to Follow-Up, Neurology (clinical), Chronic Pain, Sick Leave, medicine.symptom, business, Low Back Pain, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: International audience; STUDY DESIGN: Randomized parallel group comparative trial with a 1-year follow-up period.OBJECTIVE: To compare in a population of patients with chronic low back pain, the effectiveness of a functional restoration program (FRP), including intensive physical training and a multidisciplinary approach, with an outpatient active physiotherapy program at 1-year follow-up.SUMMARY OF BACKGROUND DATA: Controlled studies conducted in the United States and in Northern Europe showed a benefit of FRPs, especially on return to work. Randomized studies have compared these programs with standard care. A previously reported study presented the effectiveness at 6 months of both functional restoration and active physiotherapy, with a significantly greater reduction of sick-leave days for functional restoration.METHODS: A total of 132 patients with low back pain were randomized to either FRP (68 patients) or active individual therapy (64 patients). One patient did not complete the FRP; 19 patients were lost to follow-up (4 in the FRP group and 15 in the active individual treatment group). The number of sick-leave days in 2 years before the program was similar in both groups (180 ± 135.1 days in active individual treatment vs. 185 ± 149.8 days in FRP, P = 0.847).RESULTS: In both groups, at 1-year follow-up, intensity of pain, flexibility, trunk muscle endurance, Dallas daily activities and work and leisure scores, and number of sick-leave days were significantly improved compared with baseline. The number of sick-leave days was significantly lower in the FRP group.CONCLUSION: Both programs are efficient in reducing disability and sick-leave days. The FRP is significantly more effective in reducing sick-leave days. Further analysis is required to determine if this overweighs the difference in costs of both programs.
Published: 2011
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18. Management of Placenta Accreta

Author: Loïc Sentilhes, Gilles Kayem, François Goffinet, Service de gynécologie-obstétrique [Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de Gynécologie et Obstétrique [Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Gynécologie-Obstétrique [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Louis Mourier - AP-HP [Colombes], and Debs, Nayla
Subjects: MESH: Combined Modality Therapy, Time Factors, medicine.medical_treatment, Obstetric Surgical Procedures, Placenta Previa, MESH: Pregnancy, 0302 clinical medicine, Pregnancy, Risk Factors, Prenatal Diagnosis, Occlusion, Medicine, placenta accrete or percreta, 030212 general & internal medicine, Embolization, reproductive and urinary physiology, 030219 obstetrics & reproductive medicine, Obstetrics, Pregnancy Outcome, Fertility Preservation, Obstetrics and Gynecology, General Medicine, MESH: Cesarean Section, Combined Modality Therapy, Magnetic Resonance Imaging, Optimal management, 3. Good health, Survival Rate, Treatment Outcome, MESH: Methotrexate, medicine.anatomical_structure, MESH: Fertility Preservation, 030220 oncology & carcinogenesis, embryonic structures, Stents, Female, MESH: Hemostatic Techniques, management, Adult, medicine.medical_specialty, Placenta accreta, MESH: Placenta Accreta, Placenta Percreta, conservative treatment, Placenta Accreta, Hysterectomy, Ultrasonography, Prenatal, 03 medical and health sciences, Bias, abnormally invasive placenta, MESH: Hysterectomy, Placenta, cesarean hysterectomy, Humans, MESH: Prenatal Diagnosis, Ligation, MESH: Abortifacient Agents, Nonsteroidal, Abortifacient Agents, Nonsteroidal, MESH: Humans, Hemostatic Techniques, Cesarean Section, business.industry, Postpartum Hemorrhage, Balloon catheter, medicine.disease, Surgery, Methotrexate, antenatal diagnosis, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, MESH: Female, Cesarean hysterectomy
Abstract: Placenta accreta occurs when a defect of the decidua basalis results in abnormally invasive placental implantation. Main risk factors include placenta previa and previous caesarean section. The conventional sonographic criteria for abnormally adherent placenta have a good diagnostic value that has to be assessed. MRI should improve the diagnosis when sonography is inconclusive. The choice of the treatment results of medical staff and the women's choice. It implies centers with adequate equipment and resources. Radical strategy consists in caesarean hysterectomy according to American recommendations or in an attempt of complete placental delivery associated with trial haemostasis and hysterectomy if this fails. A conservative approach whereby the placenta is left in place may however be proposed in selected cases if the woman wishes to continue to be fertile. This strategy needs a rigorous follow-up until complete resorption of the placenta. In case of major hemorrhage, hysterectomy should not be delayed to prevent major maternal complications or even maternal death.
Published: 2014
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19. Delineating FOXG1 syndrome

Author: Benedicte Pontier, Mathieu Milh, Stéphanie Arpin, Thierry Bienvenu, Delphine Héron, Mathilde Nizon, Camille Maillard, Bertrand Isidor, Sylvie Odent, Christophe Philippe, Marie-Aude Spitz, Barth Magalie, Tally Lerman-Sagie, Baptiste Troude, Stéphane Rondeau, Eric Haan, Jean Michel Pedespan, Anne Marie Guerrot, Elise Schaefer, Sabrina Wagner, Nadia Bahi-Buisson, Isabelle Caubel, Caroline Michot, Nathalie Boddaert, Stéphanie Valence, Joseph Toulouse, Benjamin Cogné, Marie Hully, Alexandre N. Datta, Mara Cavallin, Cyril Mignot, Amandine Bery, Leila Lazaro, Marie Vincent, François Rivier, Sébastien Moutton, Alice Masurel, Dorit Lev, Nancy Vegas, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Embryology and genetics of human malformation (Equipe Inserm U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Institute of Medical Genetics, Wolfson Medical Center, Service de Génétique Médicale du CHU de Bordeaux, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Rouen, Normandie Université (NU), Molecular and Physiopathological bases of osteochondrodysplasia - Bases moléculaires et physiopathologiques des ostéochondrodysplasies (Equipe Inserm U1163), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Sorbonne Paris Cité (USPC), Hôpital Nord Franche-Comté [Hôpital de Trévenans] (HNFC), Service de neurologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Service de génétique, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de Génétique et Développement de Rennes (IGDR), 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 ), Université de Nantes (UN), Service de pédiatrie, Centre Hospitalier de la Côte Basque (CHCB), Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), Laboratoire de Thérapie Génique Translationnelle des Maladies Génétiques (Inserm UMR 1089), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, CHU Pellegrin, Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), 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, Biochimie et biologie moléculaire, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Genome dynamics in the immune system (Equipe Inserm U1163), Fondation Maladies Rares, DESIRE (grant agreement 60253), European Network on Brain Malformations (COST ActionCA16118), ANR-16-CE16-0011,DYNEINOPATHY,Mecanismes moléculaires et cellulaires des dyneinopathies(2016), Service d'ORL et de Chirurgie Cervicofaciale, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-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), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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 ), Le CHCB, Centre Hospitalier de la Côte Basque, SIGMA Clermont (SIGMA Clermont)-Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), CHU Pitié-Salpêtrière [APHP], Centre de Recherche sur le Cancer Nantes-Angers (LUNAM), Université d'Angers (UA)-Université de Nantes (UN), Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut Pascal - Clermont Auvergne (IP), Sigma CLERMONT (Sigma CLERMONT)-Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS), CHU Cochin [AP-HP], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, Corpus Callosum Agenesis, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Genetic counseling, Pachygyria, Encephalopathy, Nonsense mutation, Postnatal microcephaly, Corpus callosum, medicine.disease, 3. Good health, Frameshift mutation, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, medicine, Neurology (clinical), business, ComputingMilieux_MISCELLANEOUS, 030217 neurology & neurosurgery, Genetics (clinical)
Abstract: ObjectiveTo provide new insights into theFOXG1-related clinical and imaging phenotypes and refine the phenotype-genotype correlation inFOXG1syndrome.MethodsWe analyzed the clinical and imaging phenotypes of a cohort of 45 patients with a pathogenic or likely pathogenicFOXG1variant and performed phenotype-genotype correlations.ResultsA total of 37FOXG1different heterozygous mutations were identified, of which 18 are novel. We described a broad spectrum of neurodevelopmental phenotypes, characterized by severe postnatal microcephaly and developmental delay accompanied by a hyperkinetic movement disorder, stereotypes and sleep disorders, and epileptic seizures. Our data highlighted 3 patterns of gyration, including frontal pachygyria in younger patients (26.7%), moderate simplified gyration (24.4%) and mildly simplified or normal gyration (48.9%), corpus callosum hypogenesis mostly in its frontal part, combined with moderate-to-severe myelination delay that improved and normalized with age. Frameshift and nonsense mutations in the N-terminus ofFOXG1, which are the most common mutation types, show the most severe clinical features and MRI anomalies. However, patients with recurrent frameshift mutations c.460dupG and c.256dupC had variable clinical and imaging presentations.ConclusionsThese findings have implications for genetic counseling, providing evidence that N-terminal mutations and large deletions lead to more severeFOXG1syndrome, although genotype-phenotype correlations are not necessarily straightforward in recurrent mutations. Together, these analyses support the view thatFOXG1syndrome is a specific disorder characterized by frontal pachygyria and delayed myelination in its most severe form and hypogenetic corpus callosum in its milder form.
Published: 2018
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20. The Prognostic Value of Erythrocyte Polyamine in the Post-Nephrectomy Stratification of Renal Cell Carcinoma Specific Mortality

Author: Giovanni Lughezzani, Françoise Bouet, Nathalie Rioux-Leclercq, Jean Jacques Patard, B. Cipolla, Pierre I. Karakiewicz, Jean Philippe Moulinoux, Véronique Catros-Quemener, Paul Perrotte, Pierre Bigot, Service d'urologie [Rennes] = Urology [Rennes], Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service d'urologie, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Cancer Prognostics and Health Outcome Unit, Université de Montréal (UdeM), Department of urology, Università Vita-Salute San Raffaele, Cancer Prognostics and Health Outcomes Unit, 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), Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], Centre Hospitalier Privé Saint-Grégoire, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), and De Villemeur, Hervé
Subjects: Male, Oncology, Pathology, [SDV.MHEP.CHI] Life Sciences [q-bio]/Human health and pathology/Surgery, Spermidine, medicine.medical_treatment, Spermine, Nephrectomy, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, chemistry.chemical_compound, MESH: Aged, 80 and over, 0302 clinical medicine, Renal cell carcinoma, Prospective Studies, MESH: Spermine, MESH: Spermidine, Aged, 80 and over, MESH: Aged, 0303 health sciences, MESH: Middle Aged, MESH: Carcinoma, Renal Cell, Middle Aged, Prognosis, Kidney Neoplasms, 3. Good health, Survival Rate, MESH: Young Adult, 030220 oncology & carcinogenesis, Female, Adult, medicine.medical_specialty, MESH: Survival Rate, Urology, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.MHEP.CHI]Life Sciences [q-bio]/Human health and pathology/Surgery, MESH: Prognosis, Young Adult, 03 medical and health sciences, [SDV.CAN] Life Sciences [q-bio]/Cancer, Internal medicine, medicine, Carcinoma, Humans, Carcinoma, Renal Cell, Aged, Retrospective Studies, 030304 developmental biology, MESH: Humans, business.industry, Cancer, MESH: Adult, MESH: Retrospective Studies, medicine.disease, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, MESH: Prospective Studies, MESH: Male, MESH: Nephrectomy, chemistry, MESH: Kidney Neoplasms, Polyamine, business, MESH: Female, Kidney cancer
Abstract: International audience; PURPOSE: The polyamines spermine and spermidine are ubiquitous polycationic structures which are essential for cell proliferation and differentiation. Circulating polyamines, spermine and spermidine, represent valuable prognostic markers in prostate cancer, acute leukemia and supratentorial malignant glioma. We tested whether spermine and spermidine could improve the prognostic ability of several established predictors of cancer specific mortality after partial or radical nephrectomy for renal cell carcinoma. MATERIALS AND METHODS: Testing was performed on 399 patients with stages T(1-4), N(0-2), M(0-1) renal cell carcinoma who were treated with radical or partial nephrectomy at a single institution between 1990 and 2007. Univariable and multivariable Cox regression models tested the prognostic ability of spermine and spermidine levels in cancer specific mortality predictions. Covariates consisted of TNM stage, Fuhrman grade, tumor size and symptom classification. Harrell's concordance index (c-index) quantified accuracy and 200 bootstrap resamples were used to correct for overfit bias. RESULTS: The 5-year cancer specific mortality-free survival of patients with spermine levels 3 or less, 3.1 to 8, 8.1 to 13 and greater than 13 nmol/8x10(9) erythrocytes was 88.8%, 75.8%, 40.2% and 21.8%, respectively. Similarly the 5-year cancer specific mortality-free survival of patients with spermidine levels 12 or less, 12.1 to 15, 15.1 to 21 and greater than 21 nmol/8x10(9) erythrocytes was 79.0%, 56.6%, 53.2% and 27.4%, respectively. On multivariable analyses addressing cancer specific mortality after surgery spermine (p = 0.007) and spermidine (p = 0.04) achieved independent predictor status. Consideration of spermine and spermidine also improved the accuracy of established cancer specific mortality predictors by 2.2% (p
Published: 2010
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21. Functional MRI comparison of passive and active movement: possible inhibitory role of supplementary motor area

Author: Matthieu Delion, Marko Wilke, Aram Ter Minassian, Mickael Dinomais, Philippe Menei, Isabelle Richard, Sylvie Nguyen, Christophe Aubé, Titien Tuilier, Laboratoire d'Ingéniérie des Systèmes Automatisés (LISA), Université d'Angers (UA), Service d'anesthésie et réanimation chirurgicale, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Département de neurochirurgie [Angers], Hémodynamique, Interaction Fibrose et Invasivité tumorales Hépatiques (HIFIH), Micro et Nanomédecines Biomimétiques (MINT), and Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Bretagne Loire (UBL)
Subjects: Adult, Male, Volition, [SDV]Life Sciences [q-bio], Movement, media_common.quotation_subject, Neuropsychological Tests, Inhibitory postsynaptic potential, Functional Laterality, 050105 experimental psychology, Executive Function, 03 medical and health sciences, 0302 clinical medicine, Rhythm, Neural Pathways, Reaction Time, medicine, Humans, Contrast (vision), 0501 psychology and cognitive sciences, media_common, Brain Mapping, medicine.diagnostic_test, Supplementary motor area, General Neuroscience, 05 social sciences, Motor Cortex, Neural Inhibition, Body movement, Hand, Magnetic Resonance Imaging, Frontal Lobe, Functional imaging, medicine.anatomical_structure, Female, Psychology, Functional magnetic resonance imaging, Neuroscience, Psychomotor Performance, 030217 neurology & neurosurgery, Motor cortex
Abstract: International audience; Recent studies have hypothesized that the supplementary motor area plays a role in motor inhibition. To study this possible role, we used functional MRI study to compare conditions, which require various level of inhibition of motor patterns. Seventeen healthy participants were scanned while executing – actively or passively – rhythmic opening/closing movements of their right hand, with and without congruent visual information. The contrast passive>active movement in the visual guidance condition which requires inhibition in order ‘not’ to perform the movement, yields to significant activation of areas commonly involved in the inhibitory brain circuitry among which, notably, controlateral supplementary motor area.
Published: 2009
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22. Prognostic Factors of Survival in Repeat Liver Resection for Recurrent Colorectal Metastases

Author: Antoine Hamy, Gérard Lorimier, Dorothée Brachet, Emilie Lermite, Alexandra Rouquette, Jean-Pierre Arnaud, Service de Chirurgie Digestive et Endocrinienne [CHU Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Hémodynamique, Interaction Fibrose et Invasivité tumorales Hépatiques (HIFIH), Université d'Angers (UA), Département Universitaire de Santé Publique, Troubles du comportement alimentaire de l'adolescent (UMR_S 669), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11), Centre Paul Papin, and CRLCC Paul Papin
Subjects: Adult, Male, Reoperation, medicine.medical_specialty, Colorectal cancer, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Rectum, Repeat hepatectomy, 030230 surgery, Gastroenterology, Resection, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Internal medicine, medicine, Hepatectomy, Humans, Single institution, Aged, Retrospective Studies, Aged, 80 and over, business.industry, Liver Neoplasms, Cancer, General Medicine, Middle Aged, Prognosis, medicine.disease, Survival Analysis, 3. Good health, Surgery, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, Neoplasm Recurrence, Local, Colorectal Neoplasms, business
Abstract: International audience; PURPOSE: Liver metastases develop in 50 percent of patients with colorectal carcinoma. Recurrent liver disease is usual. Repeat liver resection remains the only curative treatment. The aim of this study was to review our data on repeat hepatectomy and to analyze potential prognostic factors of survival.METHOD: Patients who underwent repeat liver resection for metastases of colorectal carcinoma between January 1992 and August 2007 were identified from a prospective database and their medical records were analyzed. RESULTS: Of 62 patients who underwent a second hepatectomy, 15 underwent a third hepatectomy, and two underwent a fourth hepatectomy. There was no perioperative mortality. Morbidity was less than 20 percent for the first and second hepatectomies. Overall 5-year survival rate after first hepatectomy was 40 percent. Univariate analysis identified three risk factors confirmed by log-rank test and multivariate Cox regression analysis: serum carcinoembryonic antigen concentrations >5 ng/ml at first hepatectomy (HR = 2.265; CI = 1.140-4.497; P = 0.020), anatomic resection (HR = 2.124; CI = 1.069-4.218; P = 0.031), and tumors ≥3 cm at the second resection (HR = 2.039; CI = 1.013-4.103; P = 0.046). CONCLUSION: Our study shows that repeat hepatectomy for liver metastases of colorectal carcinoma may be performed with low mortality and morbidity. Preoperative concentration of carcinoembryonic antigen at first hepatectomy, tumor size, and type of anatomic resection are independent prognostic factors.
Published: 2009
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23. Incidental Detection of a Hodgkin Lymphoma on 18F-Choline PET/CT and Comparison With 18F-FDG in a Patient With Prostate Cancer

Author: Stéphane Supiot, Aurore Goineau, Mathilde Colombié, Sophie Sadot-Lebouvier, Caroline Rousseau, Bernardo, Elizabeth, CRLCC René Gauducheau, Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), and PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes)
Subjects: medicine.medical_specialty, PET-CT, Lung, business.industry, medicine.medical_treatment, [SDV.CAN]Life Sciences [q-bio]/Cancer, General Medicine, 18F-choline, medicine.disease, 3. Good health, Radiation therapy, Prostate cancer, medicine.anatomical_structure, Text mining, [SDV.CAN] Life Sciences [q-bio]/Cancer, Medicine, Hodgkin lymphoma, Radiology, Nuclear Medicine and imaging, Radiology, business, Lymph node
Abstract: International audience; Combined PET/CT scanning with (18)F-FDG is in current use in Hodgkin lymphoma. New tracers have been developed, such as (18)F-choline in prostate cancer. Its use is under investigation in other solid tumors (eg, brain, liver, lung). We report a case of Hodgkin lymphoma incidentally detected on (18)F-choline PET/CT in a prostate cancer patient and show a comparison with (18)F-FDG PET/CT. (18)F-choline PET/CT detected more lymph node lesions than the (18)F-FDG PET/CT for this patient. Comparative studies of the 2 tracers might help fine-tune treatments and, in particular, delineate target zones in radiation therapy.
Published: 2015
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24. Mutations in NS5A region of hepatitis C virus genome correlate with presence of NS5A antibodies and response to interferon therapy for most common european hepatitis C virus genotypes

Author: Michèle Perrin, Françoise Lunel, Henri Agut, Pascale Cresta, Lionel Frangeul, Pierre Opolon, Jean-Marie Huraux, Service de virologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [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), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), and Service d'Hépato-Gastro-Entérologie [CHU Pitié-Salpêtrière]
Subjects: viruses, Hepacivirus, Drug Resistance, MESH: Amino Acid Sequence, Viral Nonstructural Proteins, medicine.disease_cause, Polymerase Chain Reaction, MESH: Genotype, 0302 clinical medicine, Interferon, Genotype, MESH: Hepacivirus, 0303 health sciences, biology, Hepatitis C, 3. Good health, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, MESH: Drug Resistance, 030211 gastroenterology & hepatology, MESH: Genome, Viral, MESH: Interferon-alpha, Antibody, medicine.drug, MESH: Antiviral Agents, MESH: Mutation, Hepatitis C virus, Molecular Sequence Data, Genome, Viral, Antiviral Agents, Antibodies, Virus, 03 medical and health sciences, Flaviviridae, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Humans, Amino Acid Sequence, NS5A, 030304 developmental biology, MESH: Hepatitis C, MESH: Molecular Sequence Data, MESH: Humans, Hepatology, MESH: Antibodies, Interferon-alpha, MESH: Polymerase Chain Reaction, biology.organism_classification, Virology, Mutation, biology.protein, MESH: Viral Nonstructural Proteins, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]
Abstract: International audience; A part of the hepatitis C virus (HCV) nonstructural protein 5A (NS5A) amino acid sequence, designated as an interferon (IFN)-sensitive determining region (ISDR), has been shown to be correlated with a response to IFN in Japanese patients. We have shown previously that the presence of NS5A antibodies (Abs) detected by the INNOLIA test (IL-NS5A Ab) is also correlated with a response to IFN. The aim of this study was to investigate, in a wide range of patients, the possible relationship within the NS5A protein between the sequence of ISDR and that used in the INNOLIA test designated as IL3R. Serum samples from 52 patients infected by HCV genotypes 1, 2, and 3 were analyzed before and after treatment. The patients were classified as nonresponders (NRs), responder-relapsers (RRs), or long-term responders (LTRs). We amplified the NS5A region for 42 patients using polymerase chain reaction (PCR), and these amplicons were sequenced directly. The 10 remaining patients were analyzed using PCR with mutation-specific primers. No correlation was found between the IL3R sequence of the HCV strains and the presence of the IL-NS5A Ab for all genotypes. However, for the subtype 1b, only 2 of 11 NR patients tested had an arginin in position 2218 within the ISDR versus 3 of 3 LTR and 10 of 13 RR patients. All patients with R-2218 had IL-NS5A Ab. For the genotype 1a, 2 of 2 LTR and 1 of 3 RR were mutated in position 2216-2218 in comparison to three NR sequences. For the genotype 3, no mutations were found in the region homologous to 1b-ISDR, but 4 of 5 LTR and RR patients had a mutation T-2161 to A or V versus 0 of 3 NR patients. A close correlation was found between arginin in position 2218 in ISDR, the presence of IL-NS5A Ab, and the response to IFN therapy for genotype 1b, but this association did not predict a long-term response. For genotype 3, a potential ISD mutation could be located at the codon 2161.
Published: 1998
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24 results on '"Centre Hospitalier Universitaire d'Angers [CHU Angers]"'

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24. Mutations in NS5A region of hepatitis C virus genome correlate with presence of NS5A antibodies and response to interferon therapy for most common european hepatitis C virus genotypes

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