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1. Clinical and Genetic Spectrum of Bartter Syndrome Type 3

Author: Maria Mileva, Sandrine Lemoine, Christiane Mousson, Elsa Seys, Rosa Vargas-Poussou, Mathilde Cailliez, Gwenaëlle Roussey-Kesler, Aurélia Bertholet-Thomas, Paul Cozette, Theresa Kwon, Anne Blanchard, Guylhène Bourdat-Michel, Pauline Krug, Jean Sébastien Borde, Jacques Teulon, Christophe Simian, Laurence Dubourg, Robert Novo, Isabelle Vrillon, Bertrand Knebelmann, Brigitte Llanas, Djamal Djeddi, Dominique Chaveau, Stephen B. Walsh, Olga Andrini, François Nobili, Jean Daniel Delbet, Marc Fila, Georges Deschênes, Mathilde Keck, Ferielle Louillet, Lamisse Mansour-Hendili, Elodie Merieau, Stéphane Decramer, Noémie Jourde-Chiche, Marie-Pierre Lavocat, Pierre-Yves Courand, Luisa Mota-Vieira, Guillaume Bobrie, Pediatric Nephrology Unit, American Memorial Hospital, Reims University Hospital, Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Centre de Recherche des Cordeliers (CRC (UMR_S 872)), Université Paris Descartes - Paris 5 (UPD5)-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), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Service de Génétique [CHU HEGP], 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), Centre d'Investigation Clinique - Epidemiologie Clinique/essais Cliniques [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)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Cardiologie [Hôpital Croix- Rousse, HCL] (Centre d'excellence de la Société européenne d'hypertension artérielle), Hospices Civils de Lyon (HCL)-Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Génétique, Union nationale des coopératives d’élevage et d’insémination animale (UNCEIA), Unité de Néphrologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence des Maladies Rénales Rares Néphrogones, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Nephrology Unit, Clinique du Vert Galant, Tremblay-en-France, Nephrology Unit, Centre hospitalier de Saintonge, Saintes, Centre Hospitalo-Universitaire de Grenoble (CHU de Grenoble), CHU Grenoble, Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Assistance Publique - Hôpitaux de Marseille (APHM), Pediatric Nephrology Unit, Centre Hospitalier du Pays d'Aix, Nephrology Unit, Centre Hospitalier du Pays d'Aix, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Métabolomique et maladies métaboliques, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence du Sud Ouest des Maladies Rénales Rares, CHU Toulouse [Toulouse]-Hôpital des Enfants, CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Vascular research center of Marseille (VRCM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Service de néphrologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Pédiatrie médicale et médecine de l'adolescent [Amiens], CHU Amiens-Picardie, Service de pédiatrie néonatale et réanimation - neuropédiatrie [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Department of Pediatrics, Centre Hospitalier Pierre Oudot de Bourgoin-Jallieu, Bourgoin-Jallieu, Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo of Ponta Delgada, Service de néphrologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de néphrologie pédiatrique [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Department of Aeronautical and Automotive Engineering, Loughborough University, Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), 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), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Santé Lyon Est - Louis Léopold Ollier, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Union Nationale des Coopératives Agricoles d'Elevage et d'Insémination Animale, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Unité d'hypertension artérielle, 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 des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Service de nephrologie pédiatrique, Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), Université de Paris - Faculté de Médecine Paris Centre (UP Médecine Paris Centre), Université de Paris (UP), Service de Génétique [AP-HP Hôpital Européen Georges Pompidou, Paris], 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)-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 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), Centre hospitalier universitaire de Grenoble (CHU de Grenoble), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Centre de néphrologie et transplantation rénale [Hôpital de la Conception - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Service de pédiatrie néonatale et réanimation - neuropédiatrie [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Lyon, Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Aix Marseille Université (AMU)-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), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), 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), Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte [CHU-Necker] (MARHEA), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Charles Nicolle [Rouen], and Normandie Université (NU)-Normandie Université (NU)-CHU Rouen
Subjects: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], Nonsense mutation, 030232 urology & nephrology, Bartter syndrome, urologic and male genital diseases, Hypocalciuria, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Tubulopathy, Clinical Research, Internal medicine, Genotype, medicine, Humans, Child, Genetic Association Studies, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, CLCNKB, biology, business.industry, Bartter Syndrome, Infant, General Medicine, Gitelman syndrome, medicine.disease, 3. Good health, Bartter's syndrome, 030104 developmental biology, Endocrinology, Nephrology, Child, Preschool, Mutation, biology.protein, Female, medicine.symptom, business
Abstract: Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations. We detected 60 mutations, including 27 previously unreported mutations. Among patients, 29.5% had a phenotype of ante/neonatal Bartter syndrome (polyhydramnios or diagnosis in the first month of life), 44.5% had classic Bartter syndrome (diagnosis during childhood, hypercalciuria, and/or polyuria), and 26.0% had Gitelman-like syndrome (fortuitous discovery of hypokalemia with hypomagnesemia and/or hypocalciuria in childhood or adulthood). Nine of the ten mutations expressed in vitro decreased or abolished chloride conductance. Severe (large deletions, frameshift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductance were associated with younger age at diagnosis. Electrolyte supplements and indomethacin were used frequently to induce catch-up growth, with few adverse effects. After a median follow-up of 8 (range, 1-41) years in 77 patients, chronic renal failure was detected in 19 patients (25%): one required hemodialysis and four underwent renal transplant. In summary, we report a genotype/phenotype correlation for Bartter syndrome type 3: complete loss-of-function mutations associated with younger age at diagnosis, and CKD was observed in all phenotypes.
Published: 2017

2. Low compliance with colonoscopic screening in first-degree relatives of patients with large adenomas

Author: Catherine Bonaïti-Pellié, Bernard Nalet, J. Lafon, Sylviane Olschwang, Chantal Milan, Vanessa Cottet, Jean Faivre, Claire Bonithon-Kopp, Alexandre Pariente, Recherches épidémiologiques et cliniques en cancérologie digestive, Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier de Pau, Centre Hospitalier de Montélimar, CH Montélimar, Centre hospitalier du pays d'Aix, Centre Hospitalier du Pays d'Aix, Cancérologie (Inserm U599/IPC), Université de la Méditerranée - Aix-Marseille 2-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique épidémiologique et structures des populations humaines (Inserm U535), Epidémiologie, sciences sociales, santé publique (IFR 69), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANGH group, Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier de Pau, CH Pau, Cancérologie, Université de la Méditerranée - Aix-Marseille 2-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Génétique épidémiologique et structures des populations humaines ( Inserm U535 ), Epidémiologie, sciences sociales, santé publique ( IFR 69 ), Université Panthéon-Sorbonne ( UP1 ) -Université Paris-Sud - Paris 11 ( UP11 ) -École des hautes études en sciences sociales ( EHESS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-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 Panthéon-Sorbonne ( UP1 ) -Université Paris-Sud - Paris 11 ( UP11 ) -École des hautes études en sciences sociales ( EHESS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), and Kaniewski, Nadine
Subjects: Male, Pediatrics, MESH : Aged, Colonoscopy, Drug compliance, Screening colonoscopy, Gastroenterology, 0302 clinical medicine, Screening method, Pharmacology (medical), MESH : Colonoscopy, MESH : Female, Index case, MESH: Aged, education.field_of_study, MESH: Middle Aged, medicine.diagnostic_test, [ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologie, Middle Aged, MESH : Adult, MESH: Patient Compliance, Pedigree, MESH: Colonoscopy, 030220 oncology & carcinogenesis, Female, 030211 gastroenterology & hepatology, MESH : Colorectal Neoplasms, Colorectal Neoplasms, Adenoma, Adult, medicine.medical_specialty, MESH: Pedigree, MESH : Male, Population, MESH : Patient Compliance, 03 medical and health sciences, Internal medicine, medicine, Humans, MESH : Middle Aged, First-degree relatives, education, Aged, MESH: Adenoma, MESH: Humans, Hepatology, business.industry, MESH : Humans, MESH: Adult, medicine.disease, MESH: Male, MESH : Adenoma, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, MESH : Pedigree, Patient Compliance, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, MESH: Female, MESH: Colorectal Neoplasms
Abstract: Summary Background Little is known about compliance with colonoscopy as a screening method in first-degree relatives of patients with large adenomas. Aims To evaluate the compliance with screening colonoscopy among this population, and its determinants. Methods Data were obtained from the family part of the GEADE study, a study on genetic factors of colorectal adenomas. Index cases were 306 patients with adenomas ≥ 10 mm. All living first-degree relatives aged 40–75 who could be contacted by the index case were asked to undergo a colonoscopy, unless they had had one in the previous 5 years. Results Among 674 eligible relatives, 56 had had a colonoscopy within the preceding 5 years and 114 underwent a screening colonoscopy resulting in a compliance with screening colonoscopy of 18%. This was not related to most characteristics of index cases. Compliance was significantly lower when the index case lived in the Greater Paris area than when he/she lived in other areas (12% vs. 21%). It was higher in siblings (18%) and offspring (23%) than in parents (9%) and in relatives under 55 years old (22%) than in relatives aged 55 and over (15%). Conclusions Compliance with colonoscopy was low in first-degree relatives of patients with large adenomas. The reasons for this should be determined and appropriate strategies developed to increase compliance.
Published: 2006

3. Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma

Author: Jacques Lafon, Bernard Nalet, Jérôme Carayol, Pierre Laurent-Puig, Sylviane Olschwang, Catherine Bonaïti-Pellié, Astrid Lièvre, Jean Faivre, Jacqueline Milet, Claire Bonithon-Kopp, Alexandre Pariente, Delphine Le Corre, Chantal Milan, 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), Génétique épidémiologique et structures des populations humaines (Inserm U535), Epidémiologie, sciences sociales, santé publique (IFR 69), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Recherches épidémiologiques et cliniques en cancérologie digestive, Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier de Pau, Centre Hospitalier Montélimar, CH Montélimar, Centre hospitalier du pays d'Aix, Centre Hospitalier du Pays d'Aix, Cancérologie (Inserm U599/IPC), Université de la Méditerranée - Aix-Marseille 2-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM), The study was supported by grants from the 'Fondation de France', the French National Society of Gastroenterology, the 'Association pour la Recherche sur le Cancer', the Regional Council of Burgundy and the French Ministry of Health (PHRC). The U775 unit is supported by the Ligue Nationale contre le Cancer., ANGH Group, 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 ), Génétique épidémiologique et structures des populations humaines ( Inserm U535 ), Epidémiologie, sciences sociales, santé publique ( IFR 69 ), Université Panthéon-Sorbonne ( UP1 ) -Université Paris-Sud - Paris 11 ( UP11 ) -École des hautes études en sciences sociales ( EHESS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-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 Panthéon-Sorbonne ( UP1 ) -Université Paris-Sud - Paris 11 ( UP11 ) -École des hautes études en sciences sociales ( EHESS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Pau, CH Pau, Cancérologie, Université de la Méditerranée - Aix-Marseille 2-Institut National de la Santé et de la Recherche Médicale ( INSERM ), and Vaillant, Christine
Subjects: Male, Cancer Research, MMP3, MMP1, Colorectal cancer, [SDV.CAN]Life Sciences [q-bio]/Cancer, Colorectal adenoma, lcsh:RC254-282, MMP7, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, Adenomatous Polyps, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, Risk Factors, Surgical oncology, Genetics, medicine, Humans, Promoter Regions, Genetic, Aged, 030304 developmental biology, 0303 health sciences, Polymorphism, Genetic, business.industry, Case-control study, Promoter, Middle Aged, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, body regions, Oncology, Case-Control Studies, Matrix Metalloproteinase 7, 030220 oncology & carcinogenesis, Cancer research, Female, Matrix Metalloproteinase 3, Matrix Metalloproteinase 1, Colorectal Neoplasms, business, Research Article
Abstract: Background Matrix metalloproteinases (MMP) have been shown to play a role in colorectal cancer (CRC). More recently, MMP1, MMP3 and MMP7 functional gene promoter polymorphisms have been found to be associated with CRC occurrence and prognosis. To document the role of MMP polymorphisms in the early step of colorectal carcinogenesis, we investigated their association with colorectal adenoma risk in a case-control study comprising 295 patients with large adenomas (LA), 302 patients with small adenomas (SA) and 568 polyp-free (PF) controls. Methods Patients were genotyped using automated fragment analysis for MMP1 -1607 ins/del G and MMP3 -1612 ins/delA (MMP3.1) polymorphisms and allelic discrimination assay for MMP3 -709 A/G (MMP3.2) and MMP7 -181 A/G polymorphisms. Association between MMP genotypes and colorectal adenomas was first tested for each polymorphism separately and then for combined genotypes using the combination test. Adjustment on relevant variables and estimation of odds ratios were performed using unconditional logistic regression. Results No association was observed between the polymorphisms and LA when compared to PF or SA. When comparing SA to PF controls, analysis revealed a significant association between MMP3 -1612 ins/delA polymorphism and SA with an increased risk associated with the 6A/6A genotype (OR = 1.67, 95%CI: 1.20–2.34). Using the combination test, the best association was found for MMP3.1-MMP1 (p = 0.001) with an OR of 1.88 (95%CI: 1.08–3.28) for the combined genotype 2G/2G-6A/6A estimated by logistic regression. Conclusion These data show a relation between MMP1 -1607 ins/del G and MMP3 -1612 ins/delA combined polymorphisms and risk of SA, suggesting their potential role in the early steps of colorectal carcinogenesis.
Published: 2006

4. Comparison of water vapor thermal therapy and prostate artery embolization for fragile patients with indwelling urinary catheters: Preliminary results from a multi-institutional study

Author: Eric Lechevallier, F. Arroua, Marc Andre, Michael Baboudjian, A. Chevrot, Stéphane Droupy, A. Atamian, Vincent Vidal, Bastien Gondran-Tellier, C. Eghazarian, Romain Boissier, Marc Fourmarier, C. Alegorides, Aix Marseille Université (AMU), Assistance Publique - Hôpitaux de Marseille (APHM), Centre Hospitalier du Pays d'Aix, Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Européen de Recherche en Imagerie médicale (CERIMED), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-École Centrale de Marseille (ECM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Centre National de la Recherche Scientifique (CNRS), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), and Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)
Subjects: Male, medicine.medical_specialty, Urology, Urinary system, media_common.quotation_subject, [SDV]Life Sciences [q-bio], Population, Prostatic Hyperplasia, 030232 urology & nephrology, Urinary Catheters, Urination, 03 medical and health sciences, Catheters, Indwelling, 0302 clinical medicine, Lower Urinary Tract Symptoms, Refractory, Sondage préopératoire, Prostate, Thérapie à la vapeur d’eau, Humans, Medicine, Water vapor thermal therapy, education, Rétention aigue d’urine, media_common, education.field_of_study, Preoperative catheter, business.industry, Urinary retention, Arteries, Hyperplasia, medicine.disease, Embolization, Therapeutic, Acute urinary retention, Surgery, Steam, Catheter, Treatment Outcome, medicine.anatomical_structure, Hypertrophie bénigne de prostate, medicine.symptom, Benign prostatic obstruction, Embolisation des artères prostatiques, Urinary Catheterization, business, Prostate artery rmbolization
Abstract: PURPOSE To report our preliminary experience with water vapor thermal therapy with the Rezūm™ System and Prostate Artery Embolization (PAE) for treatment of medically refractory, complete urinary retention to achieve successful cessation of catheter dependency in frail-patients. PATIENTS AND METHODS A multi-institutional study was conducted including all patients who underwent Rezūm™ procedure and PAE between October 2017 and June 2020. The included population focused on frail-patients unsuitable for conventional surgery with complete urinary retention. Rezūm™ patients were identified and matched (1:1) with patients who underwent PAE. The matching criteria were age, Charlson score, prostate volume and duration of follow-up. The primary outcome was catheter-free survival, defined as spontaneous voiding and release from catheter dependence. RESULTS Eleven patients from the Rezūm™ group were matched to 11 embolized patients. PAE and Rezūm™ patients were comparable in age (median: 77 vs. 75 years), Charlson score (median: 6 vs. 6) and prostate volume (74 vs. 60 cc). Procedures were significantly longer in the PAE group compared to the Rezūm™ procedures (median: 148 vs. 8min, P
Published: 2022

5. Switch maintenance chemotherapy versus observation after carboplatin and weekly paclitaxel doublet chemotherapy in elderly patients with advanced non–small cell lung cancer: IFCT-1201 MODEL trial

Author: Didier Debieuvre, Pierre-Jean Souquet, Jean-Louis Pujol, Jérôme Dauba, Jeannick Madelaine, Olivier Molinier, J. Otto, Jacques Le Treut, Fabrice Barlesi, Elisabeth Quoix, Patrick Aldo Renault, Eric Pichon, Alexandra Langlais, Virginie Westeel, L. Moreau, Franck Morin, Jacques Margery, Clarisse Audigier-Valette, Armelle Lavolé, Patrick Dumont, Denis Moro-Sibilot, CHU Strasbourg, Centre Hospitalier Intercommunal Toulon-La Seyne sur Mer - Hôpital Sainte-Musse, CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Le Mans (CH Le Mans), Service de Pneumologie, oncologie thoracique et allergologie respiratoire [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier du Pays d'Aix, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Layné, Université Côte d'Azur (UCA), Hôpital pasteur [Colmar], Service de pneumologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre Hospitalier de Chauny, Partenaires INRAE, Hôpital d'instruction des Armées Percy, Service de Santé des Armées, Groupe hospitalier de la région de Mulhouse Sud-Alsace (GHRMSA), Centre hospitalier de Pau, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Intergroupe Francophone de Cancérologie Thoracique [Paris] (IFCT), Intergroupe Francophone de Cancérologie thoracique, CHU Grenoble, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Service de Pneumologie - Oncologie Thoracique - Maladies Pulmonaires Rares [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), and Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS)
Subjects: Male, 0301 basic medicine, Oncology, Cancer Research, Lung Neoplasms, Time Factors, medicine.medical_treatment, NSCLC, Deoxycytidine, Carboplatin, chemistry.chemical_compound, Elderly, MESH: Aged, 80 and over, 0302 clinical medicine, Maintenance therapy, MESH: Progression-Free Survival, MESH: Carboplatin, Carcinoma, Non-Small-Cell Lung, Antineoplastic Combined Chemotherapy Protocols, Aged, 80 and over, MESH: Aged, MESH: Antimetabolites, Antineoplastic, Drug Substitution, Age Factors, MESH: Neoplasm Staging, Progression-Free Survival, 3. Good health, MESH: Maintenance Chemotherapy, MESH: Antineoplastic Combined Chemotherapy Protocols, Pemetrexed, 030220 oncology & carcinogenesis, Disease Progression, Female, MESH: Disease Progression, France, medicine.drug, Antimetabolites, Antineoplastic, medicine.medical_specialty, Paclitaxel, Maintenance, [SDV.CAN]Life Sciences [q-bio]/Cancer, MESH: Drug Administration Schedule, Drug Administration Schedule, Maintenance Chemotherapy, 03 medical and health sciences, Internal medicine, medicine, Carcinoma, Humans, Chemotherapy, MESH: Paclitaxel, MESH: Pemetrexed, Lung cancer, Aged, Neoplasm Staging, MESH: Age Factors, MESH: Humans, Performance status, business.industry, MESH: Time Factors, MESH: Deoxycytidine, medicine.disease, Gemcitabine, MESH: Drug Substitution, MESH: Male, MESH: Lung Neoplasms, MESH: France, 030104 developmental biology, chemistry, business, MESH: Female, MESH: Carcinoma, Non-Small-Cell Lung
Abstract: International audience; Purpose: Maintenance chemotherapy is a reasonable choice for patients with metastatic non-small cell lung carcinoma (NSCLC) not progressing after induction therapy with a platinum-based doublet. Nevertheless, there have been no studies dedicated to elderly patients.Patients and methods: We conducted a randomised trial in patients aged 70-89 years, with advanced NSCLC (with neither EGFR mutation nor ALK rearrangement), who had not progressed after four cycles of monthly carboplatin and weekly paclitaxel in order to compare maintenance with either pemetrexed (500 mg/m2 d1, 22) in patients with non-squamous cell carcinoma or gemcitabine (1,150 mg/m2 d1, 8, 22) in squamous cell carcinoma to simple observation. The patients were required to have a performance status (PS) 0-2, mini-mental score >23, and creatinine clearance ≥45 mL/min. The primary end-point was overall survival (OS).Results: 632 patients were enrolled from May 2013 to October 2016. Of the 328 (52.3%) patients randomised after induction therapy, 166 patients were assigned to the observation arm, versus 162 to the switch maintenance arm, 119 of whom received pemetrexed and 43 gemcitabine. The median OS from randomisation was 14.1 months (95% confidence interval [CI]: 12.0-17.0) in the observation arm and 14 months (95% CI: 10.9-16.9) in the maintenance arm (p = 0.72). The median progression-free survival (PFS) from randomisation was 2.7 months (95% CI: 2.6-3.1) in the observation arm versus 5.7 months (95% CI: 4.8-7.1) in the maintenance arm (p < 0.001).Conclusion: Switch maintenance therapy significantly prolonged PFS but not OS and, thus, should not be proposed to elderly patients with advanced NSCLC.
Published: 2020

6. Characteristics and outcomes of acute respiratory distress syndrome related to COVID-19 in Belgian and French intensive care units according to antiviral strategies: the COVADIS multicentre observational study

Author: David Grimaldi, Nadia Aissaoui, Gauthier Blonz, Giuseppe Carbutti, Romain Courcelle, Stephane Gaudry, Aurelie Gaultier, Alain D’hondt, Julien Higny, Geoffrey Horlait, Sami Hraiech, Laurent Lefebvre, Francois Lejeune, Andre Ly, Michael Piagnerelli, Bertrand Sauneuf, Nicolas Serck, Thibaud Soumagne, Piotr Szychowiak, Julien Textoris, Benoit Vandenbunder, Christophe Vinsonneau, Jean- Baptiste Lascarrou, for the COVADIS study group, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Services des soins intensifs, Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), 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), Centre Hospitalier Départemental site de la Roche-sur-Yon (CHD de la Roche-sur-Yon), hospital universitaire de Mons-Hainaut, Hopital de Jolimont, Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Plateforme de Méthodologie et Biostatistique, Direction de la Recherche [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Ambroise Paré [Mons, Belgium], CHU Dinant-Godinne UCL Namur [Yvoir, Belgique], Hôpital Nord [CHU - APHM], Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Centre Hospitalier du Pays d'Aix, Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université libre de Bruxelles (ULB), Grand Hôpital de Charleroi [Belgium], Service de Réanimation Polyvalente [CHPC - Site Louis Pasteur], Site Louis Pasteur [CHPC], CH Centre Hospitalier Public du Cotentin (CHPC)-CH Centre Hospitalier Public du Cotentin (CHPC), Saint Pierre clinic of Ottignies (CSPO), Saint Pierre clinic of Ottignies, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de Médecine Intensive et Réanimation [Tours], Centre d’Investigation Clinique [Tours] CIC 1415 (CIC ), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Réseau CRICS-TRIGGERSEP [CHRU Tours] (F-CRIN research network), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hospices Civils de Lyon (HCL), Laboratoire Commun de Recherche Hospices Civils de Lyon – bioMérieux (Cancer Biomarkers Research Group), Hospices Civils de Lyon (HCL)-BIOMERIEUX, Hôpital Privé d'Antony, Centre Hospitalier de Béthune (CH Béthune), GHT de l'Artois, and COVADIS study group: Patrick Biston, Gwenhael Colin, Oriane de Maere, Nathan Ebstein, Stephan Ehrmann, Frederic Foret, Lionel Haentjens, Thibault Helbert, Jean-Baptiste Mesland, Celine Monard, Nicolas Mongardon, Gregoire Ottavy, Thomas Pasau, Gael Piton, Ester Ponzetto, Caroline Sejourne, Morgane Snacken, Xavier Souloy, Aude Sylvestre, Nicolas Tartrat, Cedric Vanbrussel
Subjects: ARDS, medicine.medical_specialty, medicine.medical_treatment, Remdesivir, 030204 cardiovascular system & hematology, Critical Care and Intensive Care Medicine, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Lopinavir, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Intensive care, Internal medicine, medicine, 030212 general & internal medicine, Renal replacement therapy, Mechanical ventilation, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Ritonavir, business.industry, Research, Acute kidney injury, lcsh:Medical emergencies. Critical care. Intensive care. First aid, lcsh:RC86-88.9, medicine.disease, Cohort, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, medicine.drug, Hydroxychloroquine
Abstract: Background Limited data are available regarding antiviral therapy efficacy in most severe patients under mechanical ventilation for Covid-19-related acute respiratory distress syndrome (ARDS). Methods Comparison of antiviral strategies (none, hydroxychloroquine (OHQ), lopinavir/ritonavir (L/R), others (combination or remdesivir) in an observational multicentre cohort of patients with moderate-to-severe Covid-19 ARDS. The primary endpoint was the number of day 28 ventilator-free days (VFD). Patients who died before d28 were considered as having 0 VFD. The variable was dichotomized into “patients still ventilated or dead at day 28” versus “patients weaned and alive at day 28”. Results We analyzed 415 patients (85 treated with standard of care (SOC), 57 with L/R, 220 with OHQ, and 53 others). The median number of d28-VFD was 0 (IQR 0–13) and differed between groups (P = 0.03), SOC patients having the highest d28-VFD. After adjustment for age, sex, Charlson Comorbidity Index, PaO2/FiO2 ratio and plateau pressure and accounting for center effect with a generalized linear mixed model, none of the antiviral strategies increased the chance of being alive and weaned from MV at day 28 compared to the SOC strategy (OR 0.48 CI95% (0.18–1.25); OR 0.96 (0.47–2.02) and OR 1.43 (0.53–4.04) for L/R, OHQ and other treatments, respectively). Acute kidney injury during ICU stay was frequent (55%); its incidence was higher in patients receiving lopinavir (66 vs 53%, P = 0.03). After adjustment for age, sex, BMI, chronic hypertension and chronic renal disease, the use of L/R was associated with an increased risk of renal replacement therapy (RRT). (OR 2.52 CI95% 1.16–5.59). Conclusion In this multicentre observational study of moderate-to-severe Covid-19 ARDS patients, we did not observe any benefit among patients treated with OHQ or L/R compared with SOC. The use of L/R treatment was associated with an increased need for RRT. Take home message Neither hydroxychloroquine nor lopinavir/ritonavir as COVID-19 antiviral treatment is associated with higher ventilator-free days at day 28 when compared with standard of care (no antiviral treatment) in ICU patients under invasive mechanical ventilation. Lopinavir/ritonavir is associated with an increased risk of renal replacement therapy requirement. Tweet COVID-19: Insights from ARDS cohort: no signal of efficacy of any antiviral drugs. Lopinavir/ritonavir may be associated with need for RRT
Published: 2020

7. Comparison of prognostic factors between bacteraemic and non-bacteraemic critically ill immunocompetent patients in community-acquired severe pneumococcal pneumonia: a STREPTOGENE sub-study

Author: Anne Veinstein, Jean Paul Mira, Benoit Misset, Jean Reignier, Kader Ouchenir, Hugo Bellut, Frédéric Jacobs, Yves Le Tulzo, Anthony Dugard, Shidasp Siami, Raphaël Porcher, Armelle Mathonnet, Sebastien Preau, Jean Philippe Rigaud, Pierre Asfar, Bertrand Souweine, Arnaud Galbois, Joel Cousson, Florent Dewavrin, Bruno Mégarbane, Olivier Baldesi, Jean Pierre Bedos, E. Varon, Centre Hospitalier Universitaire de Reims (CHU Reims), Centre Hospitalier de Versailles André Mignot (CHV), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre d'épidémiologie Clinique [Hôtel-Dieu], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Hôtel Dieu, Université Paris Descartes, Sorbonne Paris Cité, 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), CHI Créteil, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Pontchaillou [Rennes], Service de Réanimation Médicale et Toxicologique [Hôpital Lariboisière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital de la source, Hôpital Dupuytren [CHU Limoges], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Hôpital Louis Pasteur [Chartres], Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Albert Calmette, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier du Pays d'Aix, Service de réanimation polyvalente [Centre Hospitalier de Dieppe], Centre hospitalier de Dieppe, CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Centre hospitalier Saint-Joseph [Paris], AP-HP - Hôpital Antoine Béclère [Clamart], Centre hospitalier [Valenciennes, Nord], Hôpital Cochin [AP-HP], and dormoy, valerian
Subjects: medicine.medical_specialty, Severe community-acquired pneumonia, [SDV]Life Sciences [q-bio], Critical Care and Intensive Care Medicine, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Anesthesiology, Intensive care, Internal medicine, Pneumococcal bacteraemia, Streptococcus pneumoniae, Case fatality rate, medicine, Blood culture, 030212 general & internal medicine, 0303 health sciences, medicine.diagnostic_test, RC86-88.9, 030306 microbiology, business.industry, Research, Pneumococcal pneumonia, Medical emergencies. Critical care. Intensive care. First aid, Odds ratio, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Pneumonia, Macrolides, business, Fluoroquinolones
Abstract: Background The presence of bacteraemia in pneumococcal pneumonia in critically ill patients does not appear to be a strong independent prognostic factor in the existing literature. However, there may be a specific pattern of factors associated with mortality for ICU patients with bacteraemic pneumococcal community-acquired pneumonia (CAP). We aimed to compare the factors associated with mortality, according to the presence of bacteraemia or not on admission, for patients hospitalised in intensive care for severe pneumococcal CAP. Methods This was a post hoc analysis of data from the prospective, observational, multicentre STREPTOGENE study in immunocompetent Caucasian adults admitted to intensive care in France between 2008 and 2012 for pneumococcal CAP. Patients were divided into two groups based on initial blood culture (positive vs. negative) for Streptococcus pneumoniae. The primary outcome was hospital mortality, which was compared between the two groups using odds ratios according to predefined variables to search for a prognostic interaction present in bacterial patients but not non-bacteraemic patients. Potential differences in the distribution of serotypes between the two groups were assessed. The prognostic consequences of the presence or not of initial bi-antibiotic therapy were assessed, specifically in bacteraemic patients. Results Among 614 included patients, 274 had a blood culture positive for S. pneumoniae at admission and 340 did not. The baseline difference between the groups was more frequent leukopaenia (26% vs. 14%, p = 0.0002) and less frequent pre-hospital antibiotic therapy (10% vs. 16.3%, p = 0.024) for the bacteraemic patients. Hospital mortality was not significantly different between the two groups (p = 0.11). We did not observe any prognostic factors specific to the bacteraemic patient population, as the statistical comparison of the odds ratios, as an indication of the association between the predefined prognostic parameters and mortality, showed them to be similar for the two groups. Bacteraemic patients more often had invasive serotypes but less often serotypes associated with high case fatality rates (p = 0.003). The antibiotic regimens were similar for the two groups. There was no difference in mortality for patients in either group given a beta-lactam alone vs. a beta-lactam combined with a macrolide or fluoroquinolone. Conclusion Bacteraemia had no influence on the mortality of immunocompetent Caucasian adults admitted to intensive care for severe pneumococcal CAP, regardless of the profile of the associated prognostic factors.
Published: 2021

8. Pregnancy outcomes after in vitro fertilization for moderate and severe endometriosis. A case-control study

Author: Aubert Agostini, Ilyes Hamouda, Daniel Cohen, Edouard Ribot, Blandine Courbiere, Julie Berbis, Department of Gynecology, Obstetric and Reproductive Medicine, Centre Hospitalier du Pays d'Aix, Aix-en-Provence, France, Research Unit EA 3279, Department of Public Health, Aix-Marseille University, Marseille, France, Department of Gynecology-Obstetric and Reproductive Medicine, AP-HM, Hôpital La Conception, 13005 Marseille, France, Institut méditerranéen de biodiversité et d'écologie marine et continentale (IMBE), and Avignon Université (AU)-Aix Marseille Université (AMU)-Institut de recherche pour le développement [IRD] : UMR237-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, medicine.medical_specialty, Endometriosis, Context (language use), Fertilization in Vitro, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Pregnancy outcome, Miscarriage, Pregnancy, In vitro fertilization, medicine, Humans, reproductive and urinary physiology, [SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, business.industry, Obstetrics, Case-control study, Obstetrics and Gynecology, medicine.disease, Placenta previa, Pregnancy Complications, Postpartum hemorrhage, Gestational diabetes, Reproductive Medicine, Case-Control Studies, Female, Assisted reproductive technologies, business, Body mass index
Abstract: Introduction : Previous international studies showed that endometriosis could have a link with obstetrical complications, as an increased risk of preterm birth, gestational diabetes mellitus, and cesarean section. However, the results are difficult to interpret because biases are common, such as heterogeneity in the severity of the endometriosis cases included. That's why some complications as risk of miscarriage and post-partum hemorrhage are still debated. Our objective was to study pregnancy outcome after In Vitro Fertilization (IVF) in women suffering from rAFS stage III and IV endometriosis. Methods : We conducted a case-control study between 2009 and 2019. We compared pregnancy outcomes after IVF in two groups of women matched by age, body mass index and smoking in two hospital centers. Group A was constituted by singleton pregnancies following ART for moderate and severe endometriosis (rAFS stage III and IV endometriosis). Group B was composed of singleton pregnancies in women with no endometriosis following ART for another reproductive disease. All women achieved pregnancy after 22 weeks. Results : A total of 240 pregnant women were included: 80 singleton IVF pregnancies (group A) were compared with 160 singleton IVF pregnancies (group B). We observed an increased risk of placenta previa (12.5% Vs 1.9%; p = 0,001), and cesarean section (49.4 % (n = 39) Vs 29.6% (n = 47) p=0,004). Rate of postpartum hemorrhage was not significantly different in endometriosis group (11.2% Vs 7.5% p=0.47). Conclusion : Despite conflicting results in literature due to a lot of confounding variables, the impact of endometriosis on pregnancy is still debated in women suffering from rAFS III and IV endometriosis. In our study, we observed statistically higher rates of placenta previa and cesarean section but not an increased risk of postpartum hemorrhage. Further larger series are needed to confirm our findings and a possible link with other obstetrical complications. However, we think that an ART pregnancy in a context of severe endometriosis should be considered at risk of adverse obstetrical outcomes.
Published: 2022

9. Scedosporiosis/lomentosporiosis observational study (SOS): Clinical significance of Scedosporium species identification

Author: Boris Melloni, Benoit Roze, Lilia Hasseine, Jacques-Olivier Bay, Laurence Delhaes, Dominique Toubas, Gaelle Guillerm, Xavier Iriart, Thomas Similowski, Valérie Letscher-Bru, Liana Carausu, Adela Angoulvant, Eric Caumes, Marie-Elisabeth Bougnoux, Yves Leprince, Taieb Chouaki, Cécile Molucon-Chabrot, Eric Dannaoui, Hervé Dutronc, Youssef El-Samad, Florent Morio, Morgane Mourguet, Alexandre Alanio, Berengere Gruson, Pierre Cahen, Stéphane Ranque, Anne Boullié, Julie Bonhomme, Violaine Noel, Françoise Dromer, Elisabeth Chachaty, Felipe Suarez, Beate Heym, François Bissuel, Cécile Jensen, Jean-Pierre Gangneux, Emmanuelle Mouchon, Philippe Zann, Patricia Mariani, Bernard Bouteille, Véronique Leflon-Guibout, Dea Garcia-Hermoso, Anne Scemla, Stéphane Blanche, Agnes Lefort, Dorothée Raoux-Barbot, Didier Bronnimann, Olivier Lortholary, Matthieu Revest, Fanny Lanternier, Philippe Poirier, Luc Quaesaet, Marie Machouart, Françoise Botterel-Chartier, Viviane Queyrel-Moranne, Thomas Perpoint, Anne De Tinteniac, Pascale Penn, Ana Presedo, Marie Balsat, Anne Huynh, Lelia Escaut, Noémie Gadaud, Antoine Huguenin, Martine Gari-Toussaint, Sophie Brun, Jean-Marie Forel, Blandine Rammaert, Nicole Desbois, Alain Delmer, Valérie Moal, Arnaud Fekkar, Damien Hoinard, Elizabeth Rivaud, Delphine Lancement, Laurence Pougnet, Valérie Zeller, Jacques Grill, Florence Pasquier, Fabrice Larosa, Jean-François Papon, Nina Arakelyan-Laboure, Thomas Daix, Catherine Cordonnier, Nicolas Limal, Patrick Lutz, Laurence Maulin, Céline Nourrisson, Stéphane Bretagne, Françoise Uettwiller, Florence Ader, Céline Dieval, Nicolas Traversier, Sophie Bayle, Sorya Belaz, Frédéric Villega, Flore Sicre De Fontbrune, Didier Poisson, Olivier Moquet, Guillaume Martin-Blondel, Kamel Laribi, Delphine Horeau-Langlard, Gilles Nevez, Stéphanie Branger, Audrey Hessel, Philippe Herman, Jérémie Orain, Emilie Catherinot, Frédéric Mechai, Cristina Audoly, Frédéric Gabriel, Jean-François Velly, Caroline Fritz, Muriel Alvarez, Romain Guillemain, Pascal Turlure, Grégoire Leclerc, Frederic Pene, Lionel Mannone, Frédéric Grenouillet, Yoann Prevot, Louis-Jean Couderc, Isabelle Degasne, Giovanna Ingenuo, Joséphine Dorin, Florence Persat, Pierre-Marie Roger, Nathalie Brieu, David Boutoille, Pierre Frange, Nicolas Paleiron, Christophe Joubert, Laurent Hustache-Mathieu, Raoul Herbrecht, Frédéric Janvier, Lenaïg Le Clech, Cécile Gautier, Joelle Guitard, Nicolas Durrleman, Romain Guery, Stéphane De Botton, Sophie Cassaing, Marine Paul, Rachel Brault, Claire Briere-Bellier, Catherine Kauffmann-Lacroix, Nicolas Engrand, Audrey Berric, Hôpital Henri Mondor, Diane Bouvry, André Paugam, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Victor Segalen - Bordeaux 2, Université Paris Cité (UPCité), Mycologie moléculaire - Molecular Mycology, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Centre National de Référence Mycoses Invasives et Antifongiques - National Reference Center Invasive Mycoses & Antifungals (CNRMA), Institut Pasteur [Paris] (IP), Centre d'infectiologie Necker-Pasteur [CHU Necker], Institut Pasteur [Paris] (IP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier du Pays d'Aix, CHU Amiens-Picardie, The National Reference Center for Invasive Mycoses and Antifungals is supported in part by Santé Publique France and Institut Pasteur., Université de Paris (UP), Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Institut Pasteur [Paris], and Institut Pasteur [Paris]-CHU Necker - Enfants Malades [AP-HP]
Subjects: Adult, Male, medicine.medical_specialty, Antifungal Agents, Adolescent, LOMENTOSPORA PROLIFICANS, Lomentospora prolificans, Microbial Sensitivity Tests, Neutropenia, Scedosporium sp, Scedosporium, Young Adult, 03 medical and health sciences, Scedosporium species, Internal medicine, Humans, Medicine, Clinical significance, Child, Mycological Typing Techniques, scedosporiosis, Phylogeny, Fungemia, [SDV.MP.MYC]Life Sciences [q-bio]/Microbiology and Parasitology/Mycology, Aged, Retrospective Studies, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, 030306 microbiology, business.industry, Infant, Newborn, Infant, Scedosporium apiospermum, General Medicine, Middle Aged, medicine.disease, cardiovascular localization, 3. Good health, Infectious Diseases, Child, Preschool, outcome, Female, Observational study, France, business, Invasive Fungal Infections
Abstract: International audience; Scedosporiosis/lomentosporiosis is a devastating emerging fungal infection. Our objective was to describe the clinical pattern and to analyze whether taxonomic grouping of the species involved was supported by differences in terms of clinical presentations or outcomes. We retrospectively studied cases of invasive scedosporiosis in France from 2005 through 2017 based on isolates characterized by polyphasic approach. We recorded 90 cases, mainly related to Scedosporium apiospermum (n = 48), S. boydii/S. ellipsoideum (n = 20), and Lomentospora prolificans (n = 14). One-third of infections were disseminated, with unexpectedly high rates of cerebral (41%) and cardiovascular (31%) involvement. In light of recent Scedosporium taxonomic revisions, we aimed to study the clinical significance of Scedosporium species identification and report for the first time contrasting clinical presentations between infections caused S. apiospermum, which were associated with malignancies and cutaneous involvement in disseminated infections, and infections caused by S. boydii, which were associated with solid organ transplantation, cerebral infections, fungemia, and early death. The clinical presentation of L. prolificans also differed from that of other species, involving more neutropenic patients, breakthrough infections, fungemia, and disseminated infections. Neutropenia, dissemination, and lack of antifungal prescription were all associated with 3-month mortality. Our data support the distinction between S. apiospermum and S. boydii and between L. prolificans and Scedosporium sp. Our results also underline the importance of the workup to assess dissemination, including cardiovascular system and brain. Lay Summary Scedosporiosis/lomentosporiosis is a devastating emerging fungal infection. Our objective was to describe the clinical pattern and to analyze whether taxonomic grouping of the species involved was supported by differences in terms of clinical presentations or outcomes.
Published: 2020

10. Treatment of benign prostate hyperplasia using the Rezum® water vapor therapy system: Results at one year

Author: C. Eghazarian, C. Alegorides, S. Droupy, Marc Fourmarier, Souhil Lebdai, A. Chevrot, Centre Hospitalier du Pays d'Aix, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), and Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)
Subjects: Male, medicine.medical_specialty, Urology, Urinary system, Prostatic Hyperplasia, 030232 urology & nephrology, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, 03 medical and health sciences, 0302 clinical medicine, Lower urinary tract symptoms, Prostate, Benign prostate hyperplasia, Thermotherapy, Symptômes du bas appareil urinaire SBAU, medicine, Humans, Thermothérapie, Hyperplasia, Urinary retention, business.industry, medicine.disease, 3. Good health, Steam, Treatment Outcome, Erectile dysfunction, medicine.anatomical_structure, Rezum®, Quality of Life, International Prostate Symptom Score, Hyperplasie bénigne de prostate, medicine.symptom, Sexual function, business, Anejaculation
Abstract: International audience; Purpose: To report the results of convective radiofrequency (RF) water vapor thermal therapy in men with lower urinary tract symptoms (LUTS) associated with benign prostatic hyperplasia (BPH) with one-year follow-up evaluation.Material and method: The study was conducted in 2 French hospitals, for men with moderate to severe LUTS secondary to BPH, as an alternative to classical surgery treatment. The pre- and postoperative evaluation of urinary symptomatology was based on the International Prostate Symptom Score (IPSS) questionnaire, measures of peak urinary flow rate (Qmax) and post-void residual volume (PVR). Erectile and ejaculatory functions were evaluated via the IIEF5 and MSHQ-ejd questionnaires. Rates of retreatment and complications were also reported.Results: Sixty-two outpatients including 8 with urinary retention were treated. The median preoperative prostate volume was 47 (27-200) mL. At 6months postoperative, the IPSS had decreased significantly by 13.9 points (68.1%, PClavien II) were observed. No cases of de novo erectile dysfunction and an anejaculation rate of 10.8% was reported. The surgical retreatment rate at one year was 2.1%.Conclusion: The short-term results are encouraging, with significant efficacy on urinary symptoms and respect of sexual function. Nevertheless, it will be necessary to pursue the follow-up of this cohort to evaluate the mid-term and long-term evolution.
Published: 2020

11. Position paper concerning the competence, performance and environment required for the practice of ablation in children and in congenital heart disease

Author: Jérôme Lacotte, Fanny Bajolle, Karine Warin-Fresse, Nicolas Combes, Olivier Piot, Magalie Ladouceur, Jérôme Taieb, Guillaume Duthoit, Philippe Acar, Frederic Anselm, Jacques Mansourati, Jean Benoit Thambo, Daniel Gras, Clément Karsenty, Sylvie Di Filippo, Estelle Gandjbakhch, Serge Boveda, Pascal Defaye, Frederic Sacher, Pierre Bordachar, Pascal Amedro, Céline Gronier, Eloi Marijon, Emre Belli, Gabriel Laurent, Linda Koutbi, Alice Maltret, Adeline Basquin, Victor Waldmann, Nicolas Derval, Didier Klug, Daniela Laux, Sébastien Hascoët, Philippe Maury, Caroline Ovaert, Nicolas Sadoul, Laurent Fauchier, Clinical sciences, Service Cardiologie [CHU Toulouse], Pôle Cardiovasculaire et Métabolique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Centre de Référence Maladies Cardiaques Héréditaires, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Clinique Pasteur [Toulouse], Hôpital Marie-Lannelongue, IHU-LIRYC, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux], 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), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), 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), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), 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)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), CHU Rouen, Normandie Université (NU), Service de cardiologie et maladies vasculaires [Rennes] = Cardiac, Thoracic, and Vascular Surgery [Rennes], CHU Pontchaillou [Rennes], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Nouvelles Cliniques Nantaises - NCN [Nantes], Clinique De L' Orangerie - ELSAN [Strasbourg] (CDOS), CHU Lille, Hôpital de la Timone [CHU - APHM] (TIMONE), 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), Hôpital Privé Jacques Cartier [Massy], Institut Cardiovasculaire Paris Sud [Massy] (ICPS), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier d'Aix en Provence [Aix-en-Provence] (CHIAP ), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Grenoble, Centre cardiologique du Nord (CCN), CHU Toulouse [Toulouse], CHU Pessac, Service de cardiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Congenital Heart Disease Service, Marie Lannelongue Hospital, 92350 Le Plessis-Robinson, France., Department of Cardiology, Georges Pompidou European Hospital and Necker-Enfants Malades Hospital, AP-HP, Adult Congenital Heart Disease Unit, Centre de Référence des Malformations Cardiaques Congénitales Complexes (M3C), 75015 Paris, France, Inserm U970, PARCC, 75015 Paris, France., Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de cardiologie [CHU Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Paediatric Cardiology Department, AP-HP, Necker-Enfants malades, M3C National Reference Centre, Paris Descartes University, Sorbonne Paris Cite, Paris, France, Pôle des Cardiopathies Congénitales, Marie Lannelongue Hospital, 92350 Le Plessis-Robinson, Institut de cardiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Cardiologie [CHU Pitié-Salpêtrière], 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 - Faculté de Médecine (SU FM), Sorbonne Université (SU), Service de Cardiologie Pédiatrique, Hospices Civils de Lyon (HCL)-Hôpital Louis Pradel [CHU - HCL], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Cardiopathies et mort subite [ERL 3147], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes (UN), Cabinet de Cardiologie Foetale Pediatrique et Congenitale Adulte et Groupement d'Exploration Radiologique et Cardiovasculaire, Clinique de l'Orangerie, 67000 Strasbourg, Service de Cardiologie A, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de Cardiologie [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM), Institut Cardiovasculaire Paris Sud, Jacques Cartier Private Hospital, 91300 Massy, Service de Cardiologie [CHU de Dijon], Centre chirurgical Marie Lannelongue, Optimisation des régulations physiologiques (ORPHY (EA 4324)), Université de Brest (UBO)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Service de Cardiologie [CHRU Nancy], Centre Hospitalier du Pays d'Aix, Department of Cardiology, Brest University Hospital, 29200 Brest, 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), Cardiac Stimulation and Rhythmology, Clinique Pasteur et Groupe Rythmologie Stimulation Cardiaque/SFC, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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), 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], Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Chirurgical Marie Lannelongue (CCML), 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), CHU Bordeaux [Bordeaux]-Université Bordeaux Segalen - Bordeaux 2, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, 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], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-Université de Brest (UBO)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)
Subjects: Heart disease, medicine.medical_treatment, [SDV]Life Sciences [q-bio], 030204 cardiovascular system & hematology, Cryosurgery, 0302 clinical medicine, Cardiologists, heart rate, risk factors, 030212 general & internal medicine, Child, ComputingMilieux_MISCELLANEOUS, education.field_of_study, Cardiac electrophysiology, Paediatric cardiology, Age Factors, Arrhythmias, Cardiac/diagnosis, Cardiology Service, Hospital/standards, survivors, General Medicine, 3. Good health, Cardiac Surgical Procedures/adverse effects, Catheter, Treatment Outcome, Catheter Ablation, Electrophysiologic Techniques, Cardiac/standards, young adult, Cardiology Service, Hospital, Clinical Competence, Electrophysiologic Techniques, Cardiac, Cardiology and Cardiovascular Medicine, Heart Defects, Congenital, Adult, medicine.medical_specialty, Consensus, Adolescent, Child, preschool, Population, Catheter Ablation/adverse effects, Catheter ablation, Ablation procedures, Clinical Competence/standards, Competence (law), 03 medical and health sciences, Cardiologists/standards, Intensive care, medicine, Humans, cardiovascular diseases, Cardiac Surgical Procedures, education, Intensive care medicine, Congenital heart disease, Cryosurgery/adverse effects, Heart Defects, Congenital/diagnostic imaging, business.industry, Infant, Newborn, Infant, Arrhythmias, Cardiac, medicine.disease, Position paper, business
Abstract: International audience; The population of patients with congenital heart disease (CHD) is continuously increasing, and a significant proportion of these patients will experience arrhythmias because of the underlying congenital heart defect itself or as a consequence of interventional or surgical treatment. Arrhythmias are a leading cause of mortality, morbidity and impaired quality of life in adults with CHD. Arrhythmias may also occur in children with or without CHD. In light of the unique issues, challenges and considerations involved in managing arrhythmias in this growing, ageing and heterogeneous patient population and in children, it appears both timely and essential to critically appraise and synthesize optimal treatment strategies. The introduction of catheter ablation techniques has greatly improved the treatment of cardiac arrhythmias. However, catheter ablation in adults or children with CHD and in children without CHD is more technically demanding, potentially causing various complications, and thus requires a high level of expertise to maximize success rates and minimize complication rates. As French recommendations regarding required technical competence and equipment are lacking in this situation, the Working Group of Pacing and Electrophysiology of the French Society of Cardiology and the Affiliate Group of Paediatric and Adult Congenital Cardiology have decided to produce a common position paper compiled from expert opinions from cardiac electrophysiology and paediatric cardiology. The paper details the features of an interventional cardiac electrophysiology centre that are required for ablation procedures in adults with CHD and in children, the importance of being able to diagnose, monitor and manage complications associated with ablations in these patients and the supplemental hospital-based resources required, such as anaesthesia, surgical back-up, intensive care, haemodynamic assistance and imaging. Lastly, the need for quality evaluations and French registries of ablations in these populations is discussed. The purpose of this consensus statement is therefore to define optimal conditions for the delivery of invasive care regarding ablation of arrhythmias in adults with CHD and in children, and to provide expert and - when possible - evidence-based recommendations on best practice for catheter-based ablation procedures in these specific populations.
Published: 2020

12. Predicting Chemotherapy Toxicity and Death in Older Adults with Colon Cancer: Results of MOST Study

Author: Sophie Nahon, Frédérique Rousseau, Rabia Boulahssass, Francois Morvan, Dany Gholam, Olivier Guillem, Frédérique Retornaz, Michel Grino, Yves Rinaldi, Chantal Castagna, 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), Geriatric Center University Hospital, Partenaires INRAE, Geriatric Medicine Unite, Calmette Hospital, Calmette Hospital [Phnom Penh], Centre Hospitalier René Dubos [Pontoise], Centre Hospitalier du Pays d'Aix, Hôpital de l'Hôtel-Dieu de Toulon, University Hospital Federation OncoAge, Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Saint George Hospital University Medical Center, and ProdInra, Migration
Subjects: Male, Cancer Research, medicine.medical_specialty, Colorectal cancer, medicine.medical_treatment, Metastasis, 03 medical and health sciences, Grip strength, 0302 clinical medicine, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, Medicine, Humans, 030212 general & internal medicine, Hypoalbuminemia, Depression (differential diagnoses), Aged, Chemotherapy, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Proportional hazards model, Age Factors, Chemotoxicity, medicine.disease, Geriatric assessment, 3. Good health, Colon cancer, Survival Rate, Death, Frailty markers, Geriatric Oncology, Oncology, 030220 oncology & carcinogenesis, Toxicity, Colonic Neoplasms, Female, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Purpose Older patients with colon cancer (CC) are vulnerable to chemotherapy toxicity and death. Establishing simple scores specific for patients with CC to predict severe chemotoxicity or early death is needed to select the best treatment strategy. Subjects, Materials, and Methods This prospective multicenter study included patients aged ≥70 years with CC receiving adjuvant or first-line metastatic chemotherapy. Frailty markers (nutrition, physical activity, energy, mobility, strength), comprehensive geriatric assessment (functional status, comorbidities, falls, nutrition, cognition, and depression), and usual laboratory parameters were collected. Logistic or Cox regression was used to examine at 500 days the association between frailty markers, comprehensive geriatric assessment, laboratory parameters, and grade 3–4 toxicity or death. Results A total of 97 patients (median age, 79.0 years) received adjuvant (37.1%) or metastatic (62.9%) chemotherapy. During the first 500 days, grade 3–4 toxicity occurred in 49.5%, and 30% died. The predictive model for grade 3–4 toxicity combined (polychemotherapy × 3) + (hypoalbuminemia 11 mg/L + Eastern Cooperative Oncology Group performance status (ECOG-PS), cutoff score >3. The predictive model for death combined (metastasis × 5) + (age × 2) + alkaline phosphatase >100 IU/mL + sex (female) + abnormal grip strength + ECOG-PS, cutoff score >6. For chemotoxicity prediction, sensitivity was 81.6% and specificity 71.4%. For death prediction, sensitivity was 89.7% and specificity was 83.6%. Conclusion These simple and efficient “ColonPrediscores” will help to better identify older patients with CC with increased risk of chemotherapy-related toxicity and/or death.
Published: 2020

13. Assessment of preoperative noninvasive ventilation before lung cancer surgery: The preOVNI randomized controlled study

Author: Nicolas Paleiron, Frédéric Grassin, Christophe Lancelin, Cécile Tromeur, Jacques Margery, Claudia Natale, Francis Couturaud, Christophe Gut-Gobert, Aude Barnier, Elise Noël-Savina, Amélie Bazire, Annabelle Payet, Henri Berard, Michel Andre, Fabien Vaylet, Florent Vinas, Christos Chouaïd, Nicolas Venissac, Christine Donzel-Raynaud, Yvonnick RAUT, Nicolas Salley, Romain Corre, Mallorie Kerjouan, Antoine Cuvelier, Cherifa Gounane, Sonia Blandin, Lionel Falchero, Jacques Le Treut, Olivier Aze, Frédéric Gagnadoux, Wojciech Trzepizur, Alain Vergnenegre, Thomas Egenod, Olivier Tiffet, Eric Parietti, Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Service d'Oncologie Thoracique (BREST - ICH), Service de Cardiologie (HIA BREST - Cardio), HIA - BREST, Laboratoire Transport et Environnement (INRETS/LTE), Institut National de Recherche sur les Transports et leur Sécurité (INRETS), Hôpital d'instruction des Armées Percy, Service de Santé des Armées, Hôpital d'Instruction des Armées Percy, CIC - Biotherapie - CHU Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Infection bactérienne, inflammation, et carcinogenèse digestive, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-IFR50-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pontchaillou [Rennes], Service de pneumologie [Rennes] = Pneumology [Rennes], Service de pneumologie, oncologie thoracique et soins intensifs respiratoires [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Hôpital Villefranche sur Saône, Service de Pneumologie, Centre Hospitalier du Pays d'Aix, Stress Oxydant et Pathologies Métaboliques (SOPAM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Limoges, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Vital capacity, Lung Neoplasms, Time Factors, [SDV]Life Sciences [q-bio], Vital Capacity, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, 030204 cardiovascular system & hematology, law.invention, 03 medical and health sciences, Postoperative Complications, 0302 clinical medicine, Randomized controlled trial, Risk Factors, law, Carcinoma, Non-Small-Cell Lung, Forced Expiratory Volume, Preoperative Care, Clinical endpoint, medicine, Humans, Pneumonectomy, Lung cancer, Lung, ComputingMilieux_MISCELLANEOUS, Aged, COPD, Lung cancer surgery, Noninvasive Ventilation, Intention-to-treat analysis, business.industry, [SDV.BA]Life Sciences [q-bio]/Animal biology, Postoperative complication, Middle Aged, [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences, medicine.disease, 3. Good health, Surgery, Treatment Outcome, 030228 respiratory system, Female, France, Cardiology and Cardiovascular Medicine, business, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
Abstract: Objectives The preOVNI study was a randomized, controlled, open-label study that investigated whether preoperative noninvasive ventilation (NIV) could reduce postoperative complications after lung cancer surgery. Methods Adult patients with planned lung cancer resection and with at least 1 cardiac or respiratory comorbidity were included and randomly assigned to preoperative NIV (at least 7 days and 4 h/day) or no NIV. The primary endpoint was the rate of postoperative protocol-defined complications. Results Three hundred patients were included. In the NIV group, the median NIV duration was 8 days. No difference of postoperative complication rates was evidenced: 42.6% in NIV group and 44.8% in no-NIV group (P = .75). The rate of pneumonia was greater in no-NIV group compared with the NIV group, but statistical significance was not achieved (28.0 vs 37.7%, respectively; P = .08). The type of surgery (open or minimally invasive) did not impact these results after multivariable analysis. Conclusions No benefit was evidenced for preoperative NIV before lung cancer surgery. Further studies should determine the optimal perioperative management to decrease the rate of postoperative complications.
Published: 2019

14. Effects of cognitive impairment on prosodic parameters of speech production planning in multiple sclerosis

Author: Noémie Moreau, Caterina Petrone, Céline De Looze, François Viallet, Finnian Kelly, Alain Ghio, Audrey Rico, Jean Pelletier, Bertrand Audoin, Laurent Renié, Trinity College Dublin, Laboratoire Parole et Langage (LPL), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier du Pays d'Aix, Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), ANR-14-CE30-0005,RAPP,Représentation et Planification de la Prosodie(2014), and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, Speech production, medicine.medical_specialty, Multiple Sclerosis, French, Cognitive Neuroscience, Prosody, Neuropsychological Tests, Audiology, 050105 experimental psychology, Developmental psychology, [SCCO]Cognitive science, 03 medical and health sciences, Behavioral Neuroscience, Multiple Sclerosis, Relapsing-Remitting, 0302 clinical medicine, Speech Production Measurement, medicine, Humans, Speech, Articulation Disorders, Cognitive Dysfunction, 0501 psychology and cognitive sciences, [SHS.LANGUE]Humanities and Social Sciences/Linguistics, Working memory, Multiple sclerosis, 05 social sciences, Neuropsychology, Cognition, Middle Aged, Anticipation, Psychological, medicine.disease, Confidence interval, Memory, Short-Term, Speech production planning, Cognitive impairment, Neuropsychology and Physiological Psychology, Female, Psychology, Articulation (phonetics), 030217 neurology & neurosurgery
Abstract: International audience; Cognitive impairment (CI) affects 40–65% of patients with multiple sclerosis (MS). CI canhave a negative impact on a patient’s everyday activities, such as engaging in conversations.Speech production planning ability is crucial for successful verbal interactions and thus forpreserving social and occupational skills. This study investigates the effect of cognitivelinguisticdemand and CI on speech production planning in MS, as reflected in speechprosody. A secondary aim is to explore the clinical potential of prosodic features for theprediction of an individual’s cognitive status in MS. A total of 45 subjects, that is 22 healthycontrols (HC) and 23 patients in early stages of relapsing-remitting MS, underwentneuropsychological tests probing specific cognitive processes involved in speechproduction planning. All subjects also performed a read speech task, in which they hadto read isolated sentences manipulated as for phonological length. Results show that thespeech of MS patients with CI is mainly affected at the temporal level (articulation andspeech rate, pause duration). Regression analyses further indicate that rate measures arecorrelated with working memory scores. In addition, linear discriminant analysis showsthe ROC AUC of identifying MS patients with CI is 0.70 (95% confidence interval: 0.68–0.73). Our findings indicate that prosodic planning is deficient in patients with MS-CI andthat the scope of planning depends on patients’ cognitive abilities. We discuss howspeech-based approaches could be used as an ecological method for the assessment andmonitoring of CI in MS.
Published: 2017

15. Lethal toxicities after capecitabine intake in a previously 5-FU-treated patient: why dose matters with dihydropryimidine dehydrogenase deficiency

Author: L'Houcine Ouafik, Crescent C Gbeto, Catherine Roche, Bruno Lacarelle, Sylvie Quaranta, Thierry Allegre, Sophie Nahon, Roxane Mari, Raphaelle Fanciullino, Caroline Solas, Joseph Ciccolini, Centre Hospitalier d'Aix en Provence [Aix-en-Provence] (CHIAP ), Laboratoire de Biologie médicale, AP-HM, Assistance Publique - Hôpitaux de Marseille (APHM), Simulation and Modeling of Adaptive Response for Therapeutics in Cancer (SMARTc), Centre de Recherche en Cancérologie de Marseille (CRCM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Laboratoire de Transfert d'Oncologie Biologique [Hôpital Nord - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital Nord [CHU - APHM], Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Pharmacocinétique Toxicocinétique - [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM), Service Hématologie et Médecine Interne, Centre Hospitalier du Pays d'Aix, Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: medicine.medical_specialty, Antimetabolites, Antineoplastic, Dihydropyrimidine Dehydrogenase Deficiency, [SDV.CAN]Life Sciences [q-bio]/Cancer, Breast Neoplasms, Vinorelbine, Gastroenterology, Capecitabine, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Genetics, Medicine, Humans, Dosing, ComputingMilieux_MISCELLANEOUS, Dihydrouracil Dehydrogenase (NADP), 030304 developmental biology, Pharmacology, 0303 health sciences, business.industry, Dihydrouracil, Middle Aged, medicine.disease, Metastatic breast cancer, 3. Good health, chemistry, 030220 oncology & carcinogenesis, Toxicity, Molecular Medicine, DPYD, Female, Fluorouracil, business, Pharmacogenetics, medicine.drug
Abstract: Dihydropryimidine dehydrogenase (DPD) deficiency is a pharmacogenetic syndrome associated with severe or lethal toxicities with oral capecitabine. Usually, patients with history of 5-FU-based therapy with no signs for life-threatening toxicities are considered as not DPD-deficient individuals who can be safely treated next with capecitabine if required. Here we describe the case of a woman originally treated with standard FEC100 protocol for metastatic breast cancer with little severe toxicities but grade-3 mucosities that were quickly resolved by symptomatic treatment. When switched to capecitabine + vinorelbine combo, extremely severe toxicities with fatal outcome were unexpectedly observed. Pharmacogenetic investigations were performed on cytidine deaminase and DPYD, and showed that this patient was heterozygous for the 2846A>T mutation on the DPYD gene. DPD phenotyping (i.e., uracil plasma levels >250 ng/ml, dihydrouracil/uracil ratio 2 5-FU) and capecitabine (i.e., 2250 mg daily) could explain why initial 5-FU-based protocol did not lead to life-threatening toxicities, whereas capecitabine rapidly triggered toxic death. Overall, this case report suggests that any toxicity, even when not life threatening, should be considered as a warning signal for possible underlying profound DPD deficiency syndrome, especially with low-dose protocols.
Published: 2019

16. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

Author: Grangeon, Lou, Charbonnier, Camille, Quenez, Olivier, Rousseau, Stéphane, Budowski, Clara, Corbillé, Anne-Gaëlle, Antoine, Jean-Christophe, Clanet, Michel, Rovelet-Lecrux, Anne, Boland, Anne, Deleuze, Jean-François, Favrole, Pascal, Verny, Christophe, Krystkowiak, Pierre, Chamard, Ludivine, Moutton, Sébastien, Goizet, Cyril, Ferec, Claude, Timsit, Serge, Schaeffer, Stéphane, Derache, Nathalie, Defer, Gilles, Durif, Franck, Sellal, François, Rouaud, Olivier, Thauvin-Robinet, Christel, Cubizolle, Stéphanie, Sauvée, Mathilde, Leblanc, Amélie, Demas, Alexis, POISSON, Alice, Tournier-Lasserve, Elisabeth, Hervé, Dominique, Chabriat, Hugues, Grolez, Guillaume, Carrière, Nicolas, Defebvre, Luc, Lebouvier, Thibaud, Witjas, Tatiana, Azulay, Jean-Philippe, Fluchère, Frédérique, Didic, Mira, Nguyen, Karine, Charif, Mahmoud, Ayrignac, Xavier, Labauge, Pierre, Lionnet, Caroline, Marelli-Tosi, Cecilia, GAUD, Simon, Rouaud, Tiphaine, Laurens, Brice, Folgoas, Emmanuelle, Isidor, Bertrand, Chiesa, Jean, Pallix-Guyot, Maud, Gaillard, Nicolas, Olivier, Nadège, Jurici, Snejana, Marey, Isabelle, Charles, Perrine, Ewenczyck, Claire, Dürr, Alexandra, Hubsch, Cécile, Méneret, Aurélie, Vidailhet, Marie, Nadjar, Yann, Le Ber, Isabelle, Grabli, David, Roze, Emmanuel, Navarro, Vincent, Mecharles-Darrigol, Sylvie, Lagarde, Julien, Sarazin, Marie, Vérin, Marc, Lefaucheur, Romain, Maltête, David, Wallon, David, Martinaud, Olivier, Guyant-Maréchal, Lucie, Richard, Anne-claire, Guillin, Olivier, Yger, Marion, Anheim, Mathieu, Renaud, Mathilde, Tranchant, Christine, Rudolf, Gabrielle, Cretin, Benjamin, Mallaret, Martial, Pariente, Jérémie, Ory-Magne, Fabienne, Frebourg, Thierry, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut du Fer à Moulin, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Neurologie, CHU Saint-Etienne-Hôpital Bellevue, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Biologie Neurovasculaire Intégrée (BNVI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Service de neurochirurgie générale et stéréotaxique fonctionnelle, Hôpital Roger Salengro-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Mémoire de Ressources et de Recherche - CMRR [Besançon] (CMRR), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Génétique moléculaire et génétique épidémiologique, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de neurologie, Hôpital Gabriel Montpied, Hôpital pasteur [Colmar], Université Montpellier 1 (UM1)-Hôpital Guy de Chauliac-Centre Mémoire Ressources Recherche Languedoc - Roussillon, Centre Hospitalier Universitaire [Grenoble] (CHU), Hôpital d'Instruction des Armées 'Clermont-Tonnerre' (HIA), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Genetique des Maladies Vasculaires, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gouvernance, Risque, Environnement, Développement (GRED), Université Paul-Valéry - Montpellier 3 (UM3)-Institut de Recherche pour le Développement (IRD [France-Sud])-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service de neurologie et pathologie du mouvement, Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Troubles cognitifs dégénératifs et vasculaires (U1171), INSERM-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille, Neuropathies du système nerveux entérique et pathologies digestives, implication des cellules gliales entériques, Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Neurosciences Cognitives [Marseille] (LNC), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie et de neuropsychologie, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), 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), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Université de Lorraine (UL), Service de neurologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Bordeaux (UB), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes), Centre Hospitalier Régional d'Orléans (CHR), Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), 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), CHU Pitié-Salpêtrière [APHP], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Fédération des Maladies du Système Nerveux, Laboratoire de neurosciences cognitives et d'imagerie cérébrale (LENA), Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Efficience Déficience Motrice [Montpellier] (EDM), Université Montpellier 1 (UM1), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU), Service des Urgences Cérébro-Vasculaires [CHU Pitié-Salpêtrière]], CHU Pitié-Salpêtrière [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), CHU Strasbourg, Département de Neurologie, CHU Strasbourg-Hopital Civil, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), 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)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et nanosciences d'Alsace, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA), Imagerie cérébrale et handicaps neurologiques, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CIC Toulouse, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Département de neurologie [Lille], Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], 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), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [Aix-en-Provence], Centre Hospitalier du Pays d'Aix, Service de Neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), 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), Neurologie Vasculaire [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Différenciation et communication neuronale et neuroendocrine (DC2N), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), ANR-17-CE14-0008,CALCIPHOS,ROLE DE L'EXPORTATEUR DE PHOSPHATE DANS LA CALCIFICATION VASCULAIRE(2017), Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Laboratoire de Neurosciences Fonctionnelles et Pathologies, Hôpital Roger Salengro-PRES Université Lille Nord de France-EA 4559/1046-Université de Lille, Droit et Santé, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, Institut National de la Santé et de la Recherche Médicale (INSERM)-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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), and Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)
Subjects: 0301 basic medicine, Proband, Adult, Male, Pathology, medicine.medical_specialty, Heterozygote, Glycoside Hydrolases, [SDV]Life Sciences [q-bio], PDGFRB, medicine.disease_cause, Nervous System Malformations, MESH: phenotype, computed tomography, mutation, genes, pons, brain, autosomal recessive inheritance, cerebellar atrophy, calcification, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, ComputingMilieux_MISCELLANEOUS, Mutation, Brain Diseases, PDGFB, business.industry, Brain, Calcinosis, Middle Aged, medicine.disease, Penetrance, 3. Good health, Pedigree, 030104 developmental biology, Phenotype, Cerebellar atrophy, Female, Neurology (clinical), Age of onset, business, Xenotropic and Polytropic Retrovirus Receptor, 030217 neurology & neurosurgery, Calcification
Abstract: International audience; Primary familial brain calcification (PFBC) is a rare neurogenetic disorder with diverse neuropsychiatric expression. Mutations in four genes cause autosomal dominant PFBC: SLC20A2, XPR1, PDGFB and PDGFRB. Recently, biallelic mutations in the MYORG gene have been reported to cause PFBC with an autosomal recessive pattern of inheritance. We screened MYORG in 29 unrelated probands negatively screened for the autosomal dominant PFBC genes and identified 11 families with a biallelic rare or novel predicted damaging variant. We studied the clinical and radiological features of 16 patients of these 11 families and compared them to that of 102 autosomal dominant PFBC patients carrying a mutation in one of the four known autosomal dominant PFBC genes. We found that MYORG patients exhibited a high clinical penetrance with a median age of onset of 52 years (range: 21–62) with motor impairment at the forefront. In particular, dysarthria was the presenting sign in 11/16 patients. In contrast to patients with autosomal dominant PFBC, 12/15 (80%) symptomatic patients eventually presented at least four of the following five symptoms: dysarthria, cerebellar syndrome, gait disorder of any origin, akinetic-hypertonic syndrome and pyramidal signs. In addition to the most severe clinical pattern, MYORG patients exhibited the most severe pattern of calcifications as compared to the patients from the four autosomal dominant PFBC gene categories. Strikingly, 12/15 presented with brainstem calcifications in addition to extensive calcifications in other brain areas (lenticular nuclei, thalamus, cerebellar hemispheres, vermis, ±cortex). Among them, eight patients exhibited pontine calcifications, which were observed in none of the autosomal dominant PFBC patients and hence appeared to be highly specific. Finally, all patients exhibited cerebellar atrophy with diverse degrees of severity on CT scans. We confirmed the existence of cerebellar atrophy by performing MRI voxel-based morphometry analyses of MYORG patients with autosomal dominant PFBC mutation carriers as a comparison group. Of note, in three families, the father carried small pallido-dentate calcifications while carrying the mutation at the heterozygous state, suggesting a putative phenotypic expression in some heterozygous carriers. In conclusion, we confirm that MYORG is a novel major PFBC causative gene and that the phenotype associated with such mutations may be recognized based on pedigree, clinical and radiological features.
Published: 2019

17. Muscle loss associated changes of oxylipin signatures during biological aging: an exploratory study from the PROOF cohort

Author: Alice Decourt, Cécile Coudy-Gandilhon, Annika I. Ostermann, Thade Konrad, Cécile Gladine, Daniel Béchet, Nils Helge Schebb, Céline Dalle, Léonard Féasson, Frédéric Roche, André Mazur, Jean-Claude Barthélémy, Unité de Nutrition Humaine (UNH), Institut National de la Recherche Agronomique (INRA)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Faculty of Mathematics and Natural Sciences, University of Wuppertal, University of Veterinary Medicine Hanover, Service de Physiologie Clinique et de l'Exercice, Faculté de Médecine Jacques Lisfranc, PRES Université de Lyon, Université Jean Monnet (Saint-Etienne), Université de Lyon, Service de Neurologie, Centre Hospitalier du Pays d'Aix, Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), German Resaerch Foundation SCHE 1801Fondation Caisse d'Epargne Rhone-Alpes (CERA) 30French government IDEX-ISITE initiative 16-IDEX-0001 CAP 20-25French Ministry of Health, ProdInra, Archive Ouverte, Unité de Nutrition Humaine - Clermont Auvergne (UNH), Institut National de la Recherche Agronomique (INRA)-Université Clermont Auvergne (UCA), Institute for Food Toxicology, University of Veterinary Medicine, Chair of Food Chemistry, Faculty of Mathematics and Natural Sciences, service de chirurgie cardiaque, Centre Hospitalier Universitaire Gabriel Montpied, Service de Physiologie Clinique et de l'Exercice, CHU Nord, Faculté de Médecine Jacques Lisfranc, Unité de Myologie, Centre Référent Maladies Neuromusculaires Rares Rhône-Alpes, Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Institute for Food Toxicology and Analytical Chemistry, University of Veterinary Medicine Hannover, Unité de Myologie, Centre Hospitalier Universitaire de Saint-Etienne, Service de Physiologie Clinique et de l'Exercice [CHU de Saint-Etienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), Université Jean Monnet - Saint-Étienne (UJM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université Catholique de Louvain (UCLouvain). BEL., CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut Multidisciplinaire de Biochimie des Lipides (IMBL). FRA., Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), ANR-16-IDEX-0001,CAP 20-25,CAP 20-25(2016), Unité de Nutrition Humaine - Clermont Auvergne ( UNH ), Université Clermont Auvergne ( UCA ) -Institut national de la recherche agronomique [Auvergne/Rhône-Alpes] ( INRA Auvergne/Rhône-Alpes ), and Centre Hospitalier Universitaire de Saint-Etienne ( CHU de Saint-Etienne )
Subjects: 0301 basic medicine, Male, Aging, Sarcopenia, [CHIM.ANAL] Chemical Sciences/Analytical chemistry, [ SDV.AEN ] Life Sciences [q-bio]/Food and Nutrition, Lipid mediators, Inflammation, medicine.disease_cause, Bioinformatics, analyse métabolomique, 03 medical and health sciences, 0302 clinical medicine, Metabolomics, Absorptiometry, Photon, [CHIM.ANAL]Chemical Sciences/Analytical chemistry, medicine, Humans, Longitudinal Studies, Oxylipins, Prospective Studies, perte de muscle, Aged, 80 and over, business.industry, Lipid signaling, vieillissement, Oxylipin, medicine.disease, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, 030104 developmental biology, oxylipine, Ageing, ageing, Cohort, Eicosanoids, Female, Geriatrics and Gerontology, medicine.symptom, business, étude de cohorte, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, 030217 neurology & neurosurgery, Oxidative stress, Biomarkers
Abstract: L’Unité de Nutrition Humaine (UNH - Clermont-Ferrand) organise cette année avec l’aide du laboratoire CarMeN (Lyon) la 18ème éditionL’Unité de Nutrition Humaine (UNH - Clermont-Ferrand) organise cette année avec l’aide du laboratoire CarMeN (Lyon) la 18ème édition; Characterizations of the multiple mechanisms determining biological aging are required tobetter understand the etiology and identify early biomarkers of sarcopenia. Oxylipins are a largefamily of signaling lipids involved in the regulation of various biological processes that becomedysregulated during aging.To investigate whether comprehensive oxylipin profiling could provide an integrated and finecharacterisation of the early phases of sarcopenia, we performed a quantitative targetedmetabolomics of oxylipins in plasma of 81-year old subjects from the PROOF cohort withdecreased (n=12), stable (n=16) or increased appendicular muscle mass (n=14).Multivariate and univariate analyses identified significant and concordant changes of oxylipinprofiles according to the muscle status. Of note, 90% of the most discriminant oxylipins werederived from EPA and DHA and were increased in the sarcopenic subjects. The oxylipinssignatures of sarcopenic subjects revealed subtle activation of inflammatory resolutionpathways, coagulation processes and oxidative stress and the inhibition of angiogenesis. Heatmaps highlighted relationships between oxylipins and the cardiometabolic health parameterswhich were mainly lost in sarcopenic subjects.This exploratory study supports that targeted metabolomics of oxylipins could provide relevantand subtle characterization of early disturbances associated with muscle-loss during aging.
Published: 2019

18. FAM111B Mutation is associated with pancreatic cancer predisposition

Author: Emmanuelle Salort-Campana, Sébastien Küry, Stéphane Bézieau, Sébastien Barbarot, Sandra Mercier, Sophie Nahon, Service de Génétique Médicale, Centre hospitalier universitaire de Nantes (CHU Nantes), Institut du thorax, Université de Nantes (UN)-IFR26-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier du Pays d'Aix, and Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: 0303 health sciences, Hepatology, business.industry, Endocrinology, Diabetes and Metabolism, Cell Cycle Proteins, [SDV.CAN]Life Sciences [q-bio]/Cancer, medicine.disease, Article, Pancreatic Neoplasms, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, 030220 oncology & carcinogenesis, Pancreatic cancer, Mutation (genetic algorithm), Mutation, Internal Medicine, medicine, Cancer research, Humans, business, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030304 developmental biology
Abstract: International audience
Published: 2019

19. Association between antithrombotic treatment and outcomes at 1-year follow-up in patients with atrial fibrillation: the EORP-AF General Long-Term Registry

Author: Zakine, Cyril, Garcia, Rodrigue, Narayanan, Kumar, Gandjbakhch, Estelle, Algalarrondo, Vincent, Lellouche, Nicolas, Perier, Marie-Cécile, Fauchier, Laurent, Gras, Daniel, Bordachar, Pierre, Piot, Olivier, Babuty, Dominique, Sadoul, Nicolas, Defaye, Pascal, Deharo, Jean-Claude, Klug, Didier, Leclercq, Christophe, Extramiana, Fabrice, Boveda, Serge, Marijon, Eloi, Maury, Philippe, Alonso, Christine, Anselme, Frederic, Hermida, Jean-Sylvain, Laurent, Gabriel, Mansourati, Jacques, Sacher, Frederic, Taieb, Jérôme, Boriani, Giuseppe, Proietti, Marco, Laroche, Cécile, Marin, Francisco, Nabauer, Michael, Potpara, Tatjana, Dan, Gheorghe-Andrei, Kalarus, Zbigniew, Tavazzi, Luigi, Maggioni, Aldo, Lip, Gregory, Dan, G-A, Goda, A, Mairesse, G, Shalganov, T, Antoniades, L, Taborsky, M, Riahi, S, Muda, P, García Bolao, I, Etsadashvili, K, Simantirakis, E, Haim, M, Azhari, A, Najafian, J, Santini, M, Mirrakhimov, E, a Kulzida, K, Erglis, A, Poposka, L, Burg, M, Crijns, H, Erküner, Ö, Atar, D, Lenarczyk, R, Martins Oliveira, M, Shah, D, Serdechnaya, E, Diker, E, Lane, D, Zëra, E, Ekmekçiu, U, Paparisto, V, Tase, M, Gjergo, H, Dragoti, J, Ciutea, M, Ahadi, N, El Husseini, Z, Raepers, M, Leroy, J, Haushan, P, Jourdan, A, Lepiece, C, Desteghe, L, Vijgen, J, Koopman, P, van Genechten, G, Heidbuchel, H, Boussy, T, de Coninck, M, van Eeckhoutte, H, Bouckaert, N, Friart, A, Boreux, J, Arend, C, Evrard, P, Stefan, L, Hoffer, E, Herzet, J, Massoz, M, Celentano, C, Sprynger, M, Pierard, L, Melon, P, van Hauwaert, B, Kuppens, C, Faes, D, van Lier, D, van Dorpe, A, Gerardy, A, Deceuninck, O, Xhaet, O, Dormal, F, Ballant, E, Blommaert, D, Yakova, D, Hristov, M, Yncheva, T, Stancheva, N, Tisheva, S, Tokmakova, M, Nikolov, F, Gencheva, D, Kunev, B, Stoyanov, M, Marchov, D, Gelev, V, Traykov, V, Kisheva, A, Tsvyatkov, H, Shtereva, R, Bakalska-Georgieva, S, Slavcheva, S, Yotov, Y, Kubíčková, M, Marni Joensen, A, Gammelmark, A, Hvilsted Rasmussen, L, Dinesen, P, Krogh Venø, S, Sorensen, B, Korsgaard, A, Andersen, K, Fragtrup Hellum, C, Svenningsen, A, Nyvad, O, Wiggers, P, May, O, Aarup, A, Graversen, B, Jensen, L, Andersen, M, Svejgaard, M, Vester, S, Hansen, S, Lynggaard, V, Ciudad, M, Vettus, R, Maestre, A, Castaño, S, Cheggour, S, Poulard, J, Mouquet, V, Leparrée, S, Bouet, J, Doucy, A, Duquenne, H, Furber, A, Dupuis, J, Rautureau, J, Font, M, Damiano, P, Lacrimini, M, Abalea, J, Boismal, S, Menez, T, Range, G, Gorka, H, Laure, C, Vassalière, C, Elbaz, N, Djouadi, K, Roubille, F, Dietz, D, Davy, J, Granier, M, Winum, P, Leperchois-Jacquey, C, Kassim, H, Le Heuzey, J, Fedida, J, Maupain, C, Himbert, C, Hidden-Lucet, F, Duthoit, G, Badenco, N, Chastre, T, Waintraub, X, Oudihat, M, Lacoste, J, Stephan, C, Bader, H, Delarche, N, Giry, L, Arnaud, D, Lopez, C, Boury, F, Brunello, I, Lefèvre, M, Mingam, R, Haissaguerre, M, Le Bidan, M, Pavin, D, Le Moal, V, Beitar, T, Martel, I, Schmid, A, Sadki, N, Romeyer-Bouchard, C, da Costa, A, Arnault, I, Boyer, M, Piat, C, Lozance, N, Nastevska, S, Doneva, A, Fortomaroska Milevska, B, Sheshoski, B, Petroska, K, Taneska, N, Bakrecheski, N, Lazarovska, K, Jovevska, S, Ristovski, V, Antovski, A, Lazarova, E, Kotlar, I, Taleski, J, Kedev, S, Zlatanovik, N, Jordanova, S, Bajraktarova Proseva, T, Doncovska, S, Maisuradze, D, Esakia, A, Sagirashvili, E, Lartsuliani, K, Natelashvili, N, Gumberidze, N, Gvenetadze, R, Gotonelia, N, Kuridze, N, Papiashvili, G, Menabde, I, Glöggler, S, Napp, A, Lebherz, C, Romero, H, Schmitz, K, Berger, M, Zink, M, Köster, S, Sachse, J, Vonderhagen, E, Soiron, G, Mischke, K, Reith, R, Schneider, M, Rieker, W, Boscher, D, Taschareck, A, Beer, A, Oster, D, Ritter, O, Adamczewski, J, Walter, S, Frommhold, A, Luckner, E, Richter, J, Schellner, M, Landgraf, S, Bartholome, S, Naumann, R, Schoeler, J, Westermeier, D, William, F, Wilhelm, K, Maerkl, M, Oekinghaus, R, Denart, M, Kriete, M, Tebbe, U, Scheibner, T, Gruber, M, Gerlach, A, Beckendorf, C, Anneken, L, Arnold, M, Lengerer, S, Bal, Z, Uecker, C, Förtsch, H, Fechner, S, Mages, V, Martens, E, Methe, H, Schmidt, T, Schaeffer, B, Hoffmann, B, Moser, J, Heitmann, K, Willems, S, Klaus, C, Lange, I, Durak, M, Esen, E, Mibach, F, Mibach, H, Utech, A, Gabelmann, M, Stumm, R, Ländle, V, Gartner, C, Goerg, C, Kaul, N, Messer, S, Burkhardt, D, Sander, C, Orthen, R, Kaes, S, Baumer, A, Dodos, F, Barth, A, Schaeffer, G, Gaertner, J, Winkler, J, Fahrig, A, Aring, J, Wenzel, I, Steiner, S, Kliesch, A, Kratz, E, Winter, K, Schneider, P, Haag, A, Mutscher, I, Bosch, R, Taggeselle, J, Meixner, S, Schnabel, A, Shamalla, A, Hötz, H, Korinth, A, Rheinert, C, Mehltretter, G, Schön, B, Schön, N, Starflinger, A, Englmann, E, Baytok, G, Laschinger, T, Ritscher, G, Gerth, A, Dechering, D, Eckardt, L, Kuhlmann, M, Proskynitopoulos, N, Brunn, J, Foth, K, Axthelm, C, Hohensee, H, Eberhard, K, Turbanisch, S, Hassler, N, Koestler, A, Stenzel, G, Kschiwan, D, Schwefer, M, Neiner, S, Hettwer, S, Haeussler-Schuchardt, M, Degenhardt, R, Sennhenn, S, Brendel, M, Stoehr, A, Widjaja, W, Loehndorf, S, Logemann, A, Hoskamp, J, Grundt, J, Block, M, Ulrych, R, Reithmeier, A, Panagopoulos, V, Martignani, C, Bernucci, D, Fantecchi, E, Diemberger, I, Ziacchi, M, Biffi, M, Cimaglia, P, Frisoni, J, Giannini, I, Boni, S, Fumagalli, S, Pupo, S, Di Chiara, A, Mirone, P, Pesce, F, Zoccali, C, Malavasi, V, Mussagaliyeva, A, Ahyt, B, Salihova, Z, Koshum-Bayeva, K, Kerimkulova, A, Bairamukova, A, Lurina, B, Zuzans, R, Jegere, S, Mintale, I, Kupics, K, Jubele, K, Kalejs, O, Vanhear, K, Cachia, M, Abela, E, Warwicker, S, Tabone, T, Xuereb, R, Asanovic, D, Drakalovic, D, Vukmirovic, M, Pavlovic, N, Music, L, Bulatovic, N, Boskovic, A, Uiterwaal, H, Bijsterveld, N, de Groot, J, Neefs, J, van den Berg, N, Piersma, F, Wilde, A, Hagens, V, van Es, J, van Opstal, J, van Rennes, B, Verheij, H, Breukers, W, Tjeerdsma, G, Nijmeijer, R, Wegink, D, Binnema, R, Said, S, Philippens, S, van Doorn, W, Szili-Torok, T, Bhagwandien, R, Janse, P, Muskens, A, van Eck, M, Gevers, R, van Der Ven, N, Duygun, A, Rahel, B, Meeder, J, Vold, A, Holst Hansen, C, Engset, I, Dyduch-Fejklowicz, B, Koba, E, Cichocka, M, Sokal, A, Kubicius, A, Pruchniewicz, E, Kowalik-Sztylc, A, Czapla, W, Mróz, I, Kozlowski, M, Pawlowski, T, Tendera, M, Winiarska-Filipek, A, Fidyk, A, Slowikowski, A, Haberka, M, Lachor-Broda, M, Biedron, M, Gasior, Z, Kołodziej, M, Janion, M, Gorczyca-Michta, I, Wozakowska-Kaplon, B, Stasiak, M, Jakubowski, P, Ciurus, T, Drozdz, J, Simiera, M, Zajac, P, Wcislo, T, Zycinski, P, Kasprzak, J, Olejnik, A, Harc-Dyl, E, Miarka, J, Pasieka, M, Ziemińska-Łuć, M, Bujak, W, Śliwiński, A, Grech, A, Morka, J, Petrykowska, K, Prasał, M, Hordyński, G, Feusette, P, Lipski, P, Wester, A, Streb, W, Romanek, J, Woźniak, P, Chlebuś, M, Szafarz, P, Stanik, W, Zakrzewski, M, Kaźmierczak, J, Przybylska, A, Skorek, E, Błaszczyk, H, Stępień, M, Szabowski, S, Krysiak, W, Szymańska, M, Karasiński, J, Blicharz, J, Skura, M, Hałas, K, Michalczyk, L, Orski, Z, Krzyżanowski, K, Skrobowski, A, Zieliński, L, Tomaszewska-Kiecana, M, Dłużniewski, M, Kiliszek, M, Peller, M, Budnik, M, Balsam, P, Opolski, G, Tymińska, A, Ozierański, K, Wancerz, A, Borowiec, A, Majos, E, Dabrowski, R, Szwed, H, Musialik-Lydka, A, Leopold-Jadczyk, A, Jedrzejczyk-Patej, E, Koziel, M, Mazurek, M, Krzemien-Wolska, K, Starosta, P, Nowalany-Kozielska, E, Orzechowska, A, Szpot, M, Staszel, M, Almeida, S, Pereira, H, Brandão Alves, L, Miranda, R, Ribeiro, L, Costa, F, Morgado, F, Carmo, P, Galvao Santos, P, Bernardo, R, Adragão, P, Ferreira da Silva, G, Peres, M, Alves, M, Leal, M, Cordeiro, A, Magalhães, P, Fontes, P, Leão, S, Delgado, A, Costa, A, Marmelo, B, Rodrigues, B, Moreira, D, Santos, J, Santos, L, Terchet, A, Darabantiu, D, Mercea, S, Turcin Halka, V, Pop Moldovan, A, Gabor, A, Doka, B, Catanescu, G, Rus, H, Oboroceanu, L, Bobescu, E, Popescu, R, Dan, A, Buzea, A, Daha, I, Neuhoff, I, Baluta, M, Ploesteanu, R, Dumitrache, N, Vintila, M, Daraban, A, Japie, C, Badila, E, Tewelde, H, Hostiuc, M, Frunza, S, Tintea, E, Bartos, D, Ciobanu, A, Popescu, I, Toma, N, Gherghinescu, C, Cretu, D, Patrascu, N, Stoicescu, C, Udroiu, C, Bicescu, G, Vintila, V, Vinereanu, D, Cinteza, M, Rimbas, R, Grecu, M, Cozma, A, Boros, F, Ille, M, Tica, O, Tor, R, Corina, A, Jeewooth, A, Maria, B, Georgiana, C, Natalia, C, Alin, D, Dinu-Andrei, D, Livia, M, Daniela, R, Larisa, R, Umaar, S, Tamara, T, Ioachim Popescu, M, Nistor, D, Sus, I, Coborosanu, O, Alina-Ramona, N, Dan, R, Petrescu, L, Ionescu, G, Vacarescu, C, Goanta, E, Mangea, M, Ionac, A, Mornos, C, Cozma, D, Pescariu, S, Solodovnicova, E, Soldatova, I, Shutova, J, Tjuleneva, L, Zubova, T, Uskov, V, Obukhov, D, Rusanova, G, Isakova, N, Odinsova, S, Arhipova, T, Kazakevich, E, Zavyalova, O, Novikova, T, Riabaia, I, Zhigalov, S, Drozdova, E, Luchkina, I, Monogarova, Y, Hegya, D, Rodionova, L, Nevzorova, V, Lusanova, O, Arandjelovic, A, Toncev, D, Vukmirovic, L, Radisavljevic, M, Milanov, M, Sekularac, N, Zdravkovic, M, Hinic, S, Dimkovic, S, Acimovic, T, Saric, J, Radovanovic, S, Kocijancic, A, Obrenovic-Kircanski, B, Kalimanovska Ostric, D, Simic, D, Jovanovic, I, Petrovic, I, Polovina, M, Vukicevic, M, Tomasevic, M, Mujovic, N, Radivojevic, N, Petrovic, O, Aleksandric, S, Kovacevic, V, Mijatovic, Z, Ivanovic, B, Tesic, M, Ristic, A, Vujisic-Tesic, B, Nedeljkovic, M, Karadzic, A, Uscumlic, A, Prodanovic, M, Zlatar, M, Asanin, M, Bisenic, B, Vasic, V, Popovic, Z, Djikic, D, Sipic, M, Peric, V, Dejanovic, B, Milosevic, N, Backovic, S, Stevanovic, A, Andric, A, Pencic, B, Pavlovic-Kleut, M, Celic, V, Pavlovic, M, Petrovic, M, Vuleta, M, Petrovic, N, Simovic, S, Savovic, Z, Milanov, S, Davidovic, G, Iric-Cupic, V, Djordjevic, D, Damjanovic, M, Zdravkovic, S, Topic, V, Stanojevic, D, Randjelovic, M, Jankovic-Tomasevic, R, Atanaskovic, V, Antic, S, Simonovic, D, Stojanovic, M, Stojanovic, S, Mitic, V, Ilic, V, Petrovic, D, Deljanin Ilic, M, Ilic, S, Stoickov, V, Markovic, S, Mijatovic, A, Tanasic, D, Radakovic, G, Peranovic, J, Panic-Jelic, N, Vujadinovic, O, Pajic, P, Bekic, S, Kovacevic, S, García Fernandez, A, Perez Cabeza, A, Anguita, M, Tercedor Sanchez, L, Mau, E, Loayssa, J, Ayarra, M, Carpintero, M, Roldán Rabadan, I, Gil Ortega, M, Tello Montoliu, A, Orenes Piñero, E, Manzano Fernández, S, Romero Aniorte, A, Veliz Martínez, A, Quintana Giner, M, Ballesteros, G, Palacio, M, Alcalde, O, García-Bolao, I, Bertomeu Gonzalez, V, Otero-Raviña, F, García Seara, J, Gonzalez Juanatey, J, Dayal, N, Maziarski, P, Gentil-Baron, P, Koç, M, Onrat, E, Dural, I, Yilmaz, K, Özin, B, Tan Kurklu, S, Atmaca, Y, Canpolat, U, Tokgozoglu, L, Dolu, A, Demirtas, B, Sahin, D, Ozcan Celebi, O, Gagirci, G, Turk, U, Ari, H, Polat, N, Toprak, N, Sucu, M, Akin Serdar, O, Taha Alper, A, Kepez, A, Yuksel, Y, Uzunselvi, A, Yuksel, S, Sahin, M, Kayapinar, O, Ozcan, T, Kaya, H, Yilmaz, M, Kutlu, M, Demir, M, Gibbs, C, Kaminskiene, S, Bryce, M, Skinner, A, Belcher, G, Hunt, J, Stancombe, L, Holbrook, B, Peters, C, Tettersell, S, Shantsila, A, Senoo, K, Russell, K, Domingos, P, Hussain, S, Partridge, J, Haynes, R, Bahadur, S, Brown, R, Mcmahon, S, Mcdonald, J, Balachandran, K, Singh, R, Garg, S, Desai, H, Davies, K, Goddard, W, Galasko, G, Rahman, I, Chua, Y, Payne, O, Preston, S, Brennan, O, Pedley, L, Whiteside, C, Dickinson, C, Brown, J, Jones, K, Benham, L, Brady, R, Buchanan, L, Ashton, A, Crowther, H, Fairlamb, H, Thornthwaite, S, Relph, C, Mcskeane, A, Poultney, U, Kelsall, N, Rice, P, Wilson, T, Wrigley, M, Kaba, R, Patel, T, Young, E, Law, J, Runnett, C, Thomas, H, Mckie, H, Fuller, J, Pick, S, Sharp, A, Hunt, A, Thorpe, K, Hardman, C, Cusack, E, Adams, L, Hough, M, Keenan, S, Bowring, A, Watts, J, Zaman, J, Goffin, K, Nutt, H, Beerachee, Y, Featherstone, J, Mills, C, Pearson, J, Stephenson, L, Grant, S, Wilson, A, Hawksworth, C, Alam, I, Robinson, M, Ryan, S, Egdell, R, Gibson, E, Holland, M, Leonard, D, Mishra, B, Ahmad, S, Randall, H, Hill, J, Reid, L, George, M, Mckinley, S, Brockway, L, Milligan, W, Sobolewska, J, Muir, J, Tuckis, L, Winstanley, L, Jacob, P, Kaye, S, Morby, L, Jan, A, Sewell, T, Boos, C, Wadams, B, Cope, C, Jefferey, P, Andrews, N, Getty, A, Suttling, A, Turner, C, Hudson, K, Austin, R, Howe, S, Iqbal, R, Gandhi, N, Brophy, K, Mirza, P, Willard, E, Collins, S, Ndlovu, N, Subkovas, E, Karthikeyan, V, Waggett, L, Wood, A, Bolger, A, Stockport, J, Evans, L, Harman, E, Starling, J, Williams, L, Saul, V, Sinha, M, Bell, L, Tudgay, S, Kemp, S, Frost, L, Ingram, T, Loughlin, A, Adams, C, Adams, M, Hurford, F, Owen, C, Miller, C, Donaldson, D, Tivenan, H, Button, H, Nasser, A, Jhagra, O, Stidolph, B, Brown, C, Livingstone, C, Duffy, M, Madgwick, P, Roberts, P, Greenwood, E, Fletcher, L, Beveridge, M, Earles, S, Mckenzie, D, Beacock, D, Dayer, M, Seddon, M, Greenwell, D, Luxton, F, Venn, F, Mills, H, Rewbury, J, James, K, Roberts, K, Tonks, L, Felmeden, D, Taggu, W, Summerhayes, A, Hughes, D, Sutton, J, Felmeden, L, Khan, M, Walker, E, Norris, L, O'Donohoe, L, Mozid, A, Dymond, H, Lloyd-Jones, H, Saunders, G, Simmons, D, Coles, D, Cotterill, D, Beech, S, Kidd, S, Wrigley, B, Petkar, S, Smallwood, A, Jones, R, Radford, E, Milgate, S, Metherell, S, Cottam, V, Buckley, C, Broadley, A, Wood, D, Allison, J, Rennie, K, Balian, L, Howard, L, Pippard, L, Board, S, Pitt-Kerby, T, Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S 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)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), 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), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Université de Montréal (UdeM), Service de cardiologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de cardiologie [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Éducation Éthique Santé EA 7505 (EES), Université de Tours (UT), Cardiopathies et mort subite [ERL 3147], Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), IHU-LIRYC, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux], Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] (CRCTB), Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), Biospectroscopie Translationnelle - EA 7506 (BIOSPECT), Université de Reims Champagne-Ardenne (URCA), Service de Cardiologie B, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Cardiac Stimulation and Rhythmology, CHU Grenoble, Department of Cardiology and Cardiovascular Surgery, CHU Michallon, Grenoble, France, CHU Marseille, CHU Lille, Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Clinique Pasteur, Clinique Pasteur [Toulouse], 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), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Ambroise Paré [AP-HP], Service de cardiologie [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Centre Hospitalier du Pays d'Aix, Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia (UNIMORE), Università degli Studi di Milano = University of Milan (UNIMI), Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Liverpool, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Universidad de Murcia, University of Belgrade [Belgrade], Colentina University Hospital, University of Medicine and Pharmacy 'Carol Davila' Bucharest (UMPCD), Silesian Medical University, Katowice, Poland, Maria Cecilia Hospital [Cotignola], Research Center [Associazione Nazionale Medici Cardiologi Ospedalieri] (ANMCO Research Center), Associazione Nazionale Medici Cardiologi Ospedalieri [Firenze] (ANMCO), Aalborg University [Denmark] (AAU), Abbott Vascular Int., Amgen Cardiovascular, Novartis Pharma AG, Sanofi, SERVIER, Atrial Fibrillation NETwork, AFNET, AstraZeneca, Bayer AG, Boehringer Ingelheim, Boston Scientific, The Bristol Myers Squibb and Pfizer Alliance, Alliance Daiichi Sankyo Europe GmbH and Eli Lilly and Company, Gedeon Richter Plc., Menarini Int. Op., UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de cardiologie, Service de Pharmacologie médicale [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 [CHU Pitié-Salpêtrière], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-CHU Trousseau [APHP], 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), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), and CHU Toulouse [Toulouse]
Subjects: Adult, Male, Acute coronary syndrome, medicine.medical_specialty, medicine.drug_class, Hemorrhage, Outcomes, 030204 cardiovascular system & hematology, Lower risk, Risk Assessment, [SHS]Humanities and Social Sciences, 03 medical and health sciences, 0302 clinical medicine, Fibrinolytic Agents, Risk Factors, Physiology (medical), Internal medicine, Cause of Death, Antithrombotic, Medicine, Humans, 030212 general & internal medicine, Prospective Studies, Registries, Practice Patterns, Physicians', Stroke, Aged, EORP-AF registry, Aged, 80 and over, Antithrombotic therapy, business.industry, Proportional hazards model, Atrial fibrillation, Vitamin K antagonist, Middle Aged, medicine.disease, Observational registries, Europe, Female, Cardiology and Cardiovascular Medicine, business, Fibrinolytic agent, Follow-Up Studies
Abstract: Aims In recent years, stroke prevention in patients with atrial fibrillation (AF) has radically changed, with increasing use of non-vitamin K antagonist oral anticoagulants (NOACs). Contemporary European data on AF thromboprophylaxis are needed. Methods and results We report 1-year follow-up data from the EURObservational Research Programme in Atrial Fibrillation (EORP-AF) General Long-Term Registry. Outcomes were assessed according to antithrombotic therapy. At 1-year follow-up, 9663 (88.0%) patients had available data for analysis: 586 (6.1%) were not treated with any antithrombotic; 681 (7.0%) with antiplatelets only; 4066 (42.1%) with vitamin K antagonist (VKA) only; 3167 (32.8%) with NOACs only; and 1163 (12.0%) with antiplatelet and oral anticoagulant. At 1-year follow-up, there was a low rate of stroke (0.7%) and any thromboembolic event (TE) (1.2%), while haemorrhagic events occurred in 222 patients (2.3%). Cardiovascular (CV) death and all-cause death occurred in 3.9% and 5.2% of patients, respectively. Cumulative survival for all the three main outcomes considered was highest amongst patients treated only with NOACs (P Conclusion The 1-year follow-up of EORP-AF General Long-Term Registry reported a low occurrence of thromboembolic and haemorrhagic events, although mortality was high. Both VKA and NOACs were associated with a lower risk of all main adverse outcomes. All treatments were associated with a lower risk for CV death and all-cause death.
Published: 2019

20. Serum Neurofilament Levels and PML Risk in Patients With Multiple Sclerosis Treated With Natalizumab

Author: Fissolo, Nicolás, Pignolet, Beatrice, Rio, Jordi, Vermersch, Patrick, Ruet, Aurélie, deSèze, Jerome, Labauge, Pierre, Vukusic, Sandra, Papeix, Caroline, Martinez-Almoyna, Laurent, Tourbah, Ayman, Clavelou, Pierre, Moreau, Thibault, Pelletier, Jean, Lebrun-Frenay, Christine, Bourre, Bertrand, Defer, Gilles, Montalban, Xavier, Brassat, David, Comabella, Manuel, Universitat Autònoma de Barcelona, Universitat Autònoma de Barcelona (UAB), Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Vall d'Hebron University Hospital [Barcelona], Lille Neurosciences & Cognition - U 1172 (LilNCog (ex-JPARC)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Physiopathologie de la Plasticité Neuronale (Neurocentre Magendie - U1215 Inserm), Université de Bordeaux (UB)-Institut François Magendie-Institut National de la Santé et de la Recherche Médicale (INSERM), Nouvel Hôpital Civil de Strasbourg, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de Neuroradiologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-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), Service de Neurologie [Aix-en-Provence], Centre Hospitalier du Pays d'Aix, Centre Hospitalier Universitaire de Reims (CHU Reims), Laboratoire de Psychopathologie et Neuropsychologie (LPN), Université Paris 8 Vincennes-Saint-Denis (UP8), CHU Clermont-Ferrand, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Nice (CHU Nice), Unité de Recherche Clinique de la Côte d’Azur [Nice] (URRIS UR2CA), Université Côte d'Azur (UCA), CHU Rouen, Normandie Université (NU), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre d'Esclerosi Múltiple de Catalunya (CemCat), Vall d’Hebron Research Institute (VHIR), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Lille Neurosciences & Cognition - U 1172 (LilNCog), Neurocentre Magendie : Physiopathologie de la Plasticité Neuronale (U1215 Inserm - UB), CHU Bordeaux [Bordeaux], Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Service de Neurologie [Lyon], CHU Lyon, 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 neurologie [Reims], Service de Neurologie [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Nice], Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), Service de neurologie [Rouen], Normandie Université (NU)-Normandie Université (NU), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), HAL-SU, Gestionnaire, Institut Català de la Salut, [Fissolo N, Comabella M] Servei de Neurologia-Neuroimmunologia, Centre d’Esclerosi Múltiple de Catalunya (CEMCAT), Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Pignolet B] CRC-SEP Neurosciences Centre Hospitalier Universitaire Toulouse, CPTP INSERM UMR 1043 CNRS UMR 5282 et Université de Toulouse III, UPS, France. [Rio J, Montalban X] Servei de Neurologia-Neuroimmunologia, Centre d’Esclerosi Múltiple de Catalunya (CEMCAT), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Vermersch P] Univ. Lille, Inserm U1172, CHU Lille, FHU Imminent, France. [Ruet A] CHU de Bordeaux, INSERM-CHU CIC-P 0005, Service de Neurologie, Bordeaux F-33076, France. Université de Bordeaux, Bordeaux F-33076, France. [deSèze J] Department of Neurology, Hôpital Civil, Strasbourg, Vall d'Hebron Barcelona Hospital Campus, Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), 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), CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Male, Oncology, Macromolecular Substances::Polymers::Biopolymers::Intermediate Filament Proteins::Neurofilament Proteins [CHEMICALS AND DRUGS], viruses, Other subheadings::Other subheadings::/drug therapy [Other subheadings], MESH: Multiple Sclerosis, Relapsing-Remitting / blood, 0302 clinical medicine, Natalizumab, Neurofilament Proteins, 030212 general & internal medicine, Prospective cohort study, MESH: Middle Aged, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Progressive multifocal leukoencephalopathy, Leukoencephalopathy, Progressive Multifocal, Nervous System Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases, CNS::Multiple Sclerosis [DISEASES], MESH: Multiple Sclerosis / diagnosis, virus diseases, MESH: Follow-Up Studies, Middle Aged, Prognosis, Clinical Practice, MESH: Immunologic Factors / administration & dosage, Neurology, MESH: Young Adult, enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::enfermedades autoinmunes desmielinizantes del SNC::esclerosis múltiple [ENFERMEDADES], Cohort, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, MESH: Multiple Sclerosis / drug therapy, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Otros calificadores::Otros calificadores::Otros calificadores::/sangre [Otros calificadores], medicine.drug, Adult, medicine.medical_specialty, Neurofilament, MESH: Multiple Sclerosis, Relapsing-Remitting / diagnosis, [SDV.IMM] Life Sciences [q-bio]/Immunology, Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores], Filaments citoplasmàtics, sustancias macromoleculares::polímeros::biopolímeros::proteínas de filamentos intermedios::proteínas de neurofilamentos [COMPUESTOS QUÍMICOS Y DROGAS], Sensitivity and Specificity, Article, MESH: Prognosis, Multiple sclerosis, Young Adult, 03 medical and health sciences, Multiple Sclerosis, Relapsing-Remitting, Internal medicine, parasitic diseases, MESH: Leukoencephalopathy, Progressive Multifocal / blood, medicine, Humans, Immunologic Factors, Other subheadings::Other subheadings::/blood [Other subheadings], In patient, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], MESH: Leukoencephalopathy, Progressive Multifocal / diagnosis, MESH: Humans, business.industry, MESH: Multiple Sclerosis / blood, MESH: Adult, medicine.disease, MESH: Sensitivity and Specificity, MESH: Male, Class I, Avaluació de resultats (Assistència sanitària), MESH: Multiple Sclerosis, Relapsing-Remitting / drug therapy, Neurology (clinical), business, Esclerosi múltiple - Tractament, MESH: Female, MESH: Natalizumab / administration & dosage, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Follow-Up Studies, MESH: Neurofilament Proteins / blood
Abstract: ObjectivesThe study aimed to assess the potential for serum neurofilament light chain (NFL) levels to predict the risk of progressive multifocal leukoencephalopathy (PML) in natalizumab (NTZ)-treated patients with multiple sclerosis (MS) and to discriminate PML from MS relapses.MethodsNFL levels were measured with single molecule array (Simoa) in 4 cohorts: (1) a prospective cohort of patients with MS who developed PML under NTZ therapy (pre-PML) and non-PML NTZ-treated patients (NTZ-ctr); (2) a cohort of patients whose blood was collected during PML; (3) an independent cohort of non-PML NTZ-treated patients with serum NFL determinations at 2 years (replication cohort); and (4) a cohort of patients whose blood was collected during exacerbations.ResultsSerum NFL levels were significantly increased after 2 years of NTZ treatment in pre-PML patients compared with NTZ-ctr. The prognostic performance of serum NFL levels to predict PML development at 2 years was similar in the NTZ-ctr group and replication cohort. Serum NFL levels also distinguished PML from MS relapses and were 8-fold higher during PML compared with relapses.ConclusionsThese results support the use of serum NFL levels in clinical practice to identify patients with relapsing-remitting MS at higher PML risk and to differentiate PML from clinical relapses in NTZ-treated patients.Classification of EvidenceThis study provides Class I evidence that serum NFL levels can identify NTZ-treated patients with MS who will develop PML with a sensitivity of 67% and specificity of 80%.
Published: 2021

21. Position paper for management of elderly patients with pacemakers and implantable cardiac defibrillators: Groupe de Rythmologie et Stimulation Cardiaque de la Société Française de Cardiologie and Société Française de Gériatrie et Gérontologie

Author: Jacques Mansourati, Hugues Blangy, Jérôme Taieb, Franck Halimi, Olivier Hanon, Jean-Claude Deharo, Jean-Luc Pasquié, Pascal Defaye, Nicolas Sadoul, Benjamin Obadia, Didier Klug, Pierre Bordachar, Christine Alonso, Olivier Piot, Patrick Friocourt, Serge Boveda, Daniel Gras, Nicolas Clementy, Dominique Pavin, Laurent Fauchier, Frédéric Anselme, Service de Cardiologie B, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-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), Clinique Ambroise Paré, Service de cardiologie [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Institut Lorrain du Coeur et des Vaisseaux Louis Mathieu [Nancy], CHU Bordeaux [Bordeaux], Clinique Pasteur et Groupe Rythmologie Stimulation Cardiaque/SFC, Clinique Pasteur [Toulouse], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Cardiac Stimulation and Rhythmology, CHU Grenoble, Service de cardiologie, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier de Blois (CHB), Cardiopathies et mort subite [ERL 3147], Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital privé de Parly-2, Service de Cardiologie A, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Optimisation des régulations physiologiques (ORPHY (EA 4324)), Université de Brest (UBO)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Hôpital de la Timone [CHU - APHM] (TIMONE), 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), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de cardiologie et maladies vasculaires [Rennes] = Cardiac, Thoracic, and Vascular Surgery [Rennes], CHU Pontchaillou [Rennes], Laboratoire d'Ecologie des Sols Tropicaux (LEST), Institut pour la Recherche et le Développement, Centre Hospitalier du Pays d'Aix, Centre cardiologique du Nord (CCN), Dpt Gériatrie [CHU Broca], AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), MORNET, Dominique, Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes (UN), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-Université de Brest (UBO)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), 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], Laboratoire d'économie et de sociologie du travail (LEST), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Médicaments : Dynamique Intracellulaire et Architecture Nucléaire (MéDIAN), Université de Reims Champagne-Ardenne (URCA)-Centre National de la Recherche Scientifique (CNRS), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université
Subjects: Pacemaker, Artificial, medicine.medical_specialty, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Cardiology, Cardiac resynchronization therapy, Disease, 030204 cardiovascular system & hematology, General status, 03 medical and health sciences, Elderly, 0302 clinical medicine, Older patients, Internal medicine, Implantable cardioverter defibrillator, medicine, Humans, 030212 general & internal medicine, Societies, Medical, Aged, Heart Failure, Resynchronisation cardiaque, business.industry, Mortality rate, Défibrillateur automatique implantable, Disease Management, Arrhythmias, Cardiac, General Medicine, Implantable cardioverter-defibrillator, medicine.disease, Defibrillators, Implantable, 3. Good health, Pacemaker, [SDV] Life Sciences [q-bio], Position paper, France, Cardiac pacing, Cardiology and Cardiovascular Medicine, business, Sujet âgé, Atrioventricular block
Abstract: International audience; Despite the increasingly high rate of implantation of pacemakers (PMs) and implantable cardioverter defibrillators (ICDs) in elderly patients, data supporting their clinical and cost-effectiveness in this age stratum are ambiguous and contradictory. We reviewed the data regarding the applicability, safety and effectiveness of conventional pacing, ICDs and cardiac resynchronization therapy (CRT) in elderly patients. Although periprocedural risk may be slightly higher in the elderly, the implantation procedure for PMs and ICDs is still relatively safe in this age group. In older patients with sinus node disease, the general consensus is that DDD pacing with the programming of an algorithm to minimize ventricular pacing is preferred. In very old patients presenting with intermittent or suspected atrioventricular block, VVI pacing may be appropriate. In terms of correcting potentially life-threatening arrhythmias, the effectiveness of ICD therapy is similar in older and younger individuals. However, the assumption of persistent ICD benefit in the elderly population is questionable, as any advantageous effect of the device on arrhythmic death may be attenuated by higher total non-arrhythmic mortality. While septuagenarians and octogenarians have higher annual all-cause mortality rates, ICD therapy may remain effective in selected patients at high risk of arrhythmic death and with minimum comorbidities despite advanced age. ICD implantation among the elderly, as a group, may not be cost-effective, but the procedure may reach cost-effectiveness in those expected to live more than 5-7years after implantation. Elderly patients usually experience significant functional improvement after CRT, similar to that observed in middle-aged patients. Management of CRT non-responders remains globally the same, while considering a less aggressive approach in terms of reinterventions (revision of left ventricular [LV] lead placement, addition of a right ventricular or LV lead, LV endocardial pacing configuration). Overall, physiological age, general status and comorbidities rather than chronological age per se should be the decisive factors in making a decision about device implantation selection for survival and well-being benefit in elderly patients.
Published: 2016

22. Host-pathogen interactions and prognosis of critically ill immunocompetent patients with pneumococcal pneumonia: the nationwide prospective observational STREPTOGENE study

Author: Armelle Mathonnet, Sebastien Preau, Arnaud Galbois, Jean-Pierre Bedos, Frédéric Jacobs, Shidasp Siami, Jean-Paul Mira, E. Varon, Kader Ouchenir, Anne Veinstein, Bertrand Souweine, Jean-Philippe Rigaud, Benoit Misset, Jean Reignier, Raphaël Porcher, Olivier Baldesi, Yves Le Tulzo, Joel Cousson, Florent Dewavrin, Pierre Asfar, Anthony Dugard, Bruno Mégarbane, Unité de Soins Intensifs [Versailles], Centre Hospitalier de Versailles (CHV), Service de microbiologie, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-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)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Biostatistique et épidemiologie clinique, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hémodynamique, Interaction Fibrose et Invasivité tumorales Hépatiques (HIFIH), Université d'Angers (UA), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Réanimation (ORLEANS - Réa), Centre Hospitalier Régional d'Orléans (CHR), Service d'Accompagnement et Soins Palliatifs [CHU Limoges], CHU Limoges, Urgences médicales, Centre hospitalier universitaire de Poitiers (CHU Poitiers), General Intensive Care Medicine, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital Raymond Poincaré [Garches], Centre hospitalier universitaire de Nantes (CHU Nantes), Institut Galien Paris-Sud (IGPS), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Service de réanimation médicale, Centre Hospitalier Universitaire de Reims (CHU Reims), Hôpital Albert Calmette, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier du Pays d'Aix, De la Préhistoire à l'Actuel : Culture, Environnement et Anthropologie (PACEA), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Microorganismes : Génome et Environnement (LMGE), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Centre National de la Recherche Scientifique (CNRS)-Université d'Auvergne - Clermont-Ferrand I (UdA), CHU Gabriel Montpied (CHU), CHU Clermont-Ferrand, Medical-Surgical ICU, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Hôpital Saint Joseph, Service de Réanimation Médicale, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], 07/061, ministere de la santé français, Unité de Soins Intensifs [CH Versailles], Centre Hospitalier de Versailles André Mignot (CHV), 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), Centre Hospitalier Régional d'Orléans (CHRO), Hôpital Ambroise Paré [AP-HP], Université Paris-Sud - Paris 11 (UP11)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), CHU Gabriel Montpied [Clermont-Ferrand], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Hôpital Saint Joseph, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Service des urgences [CHU Poitiers], and Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, medicine.medical_treatment, Critical Care and Intensive Care Medicine, law.invention, 0302 clinical medicine, law, Risk Factors, 030212 general & internal medicine, Hospital Mortality, Prospective Studies, Prospective cohort study, ComputingMilieux_MISCELLANEOUS, Age Factors, Middle Aged, Prognosis, Intensive care unit, 3. Good health, Community-Acquired Infections, Pneumococcal pneumonia, Pneumococcal serotypes, Host-Pathogen Interactions, Female, Macrolides, Fluoroquinolones, medicine.medical_specialty, Severe community-acquired pneumonia, Critical Care, Critical Illness, [SDV.MP.PRO]Life Sciences [q-bio]/Microbiology and Parasitology/Protistology, 03 medical and health sciences, Sex Factors, Anesthesiology, Internal medicine, medicine, Humans, Aged, Mechanical ventilation, Septic shock, business.industry, Pneumonia, Pneumococcal, medicine.disease, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Pneumonia, Logistic Models, 030228 respiratory system, Bacteremia, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: To assess the relative importance of host and bacterial factors associated with hospital mortality in patients admitted to the intensive care unit (ICU) for pneumococcal community-acquired pneumonia (PCAP). Immunocompetent Caucasian ICU patients with PCAP documented by cultures and/or pneumococcal urinary antigen (UAg Sp) test were included in this multicenter prospective study between 2008 and 2012. All pneumococcal strains were serotyped. Logistic regression analyses were performed to identify risk factors for hospital mortality. Of the 614 patients, 278 (45%) had septic shock, 270 (44%) had bacteremia, 307 (50%) required mechanical ventilation at admission, and 161 (26%) had a diagnosis based only on the UAg Sp test. No strains were penicillin-resistant, but 23% had decreased susceptibility. Of the 36 serotypes identified, 7 accounted for 72% of the isolates, with different distributions according to age. Although antibiotics were consistently appropriate and were started within 6 h after admission in 454 (74%) patients, 116 (18.9%) patients died. Independent predictors of hospital mortality in the adjusted analysis were platelets ≤ 100 × 109/L (OR, 7.7; 95% CI, 2.8–21.1), McCabe score ≥ 2 (4.58; 1.61–13), age > 65 years (2.92; 1.49–5.74), lactates > 4 mmol/L (2.41; 1.27–4.56), male gender and septic shock (2.23; 1.30–3.83 for each), invasive mechanical ventilation (1.78; 1–3.19), and bilateral pneumonia (1.59; 1.02–2.47). Women with platelets ≤ 100 × 109/L had the highest mortality risk (adjusted OR, 7.7; 2.8–21). In critically ill patients with PCAP, age, gender, and organ failures at ICU admission were more strongly associated with hospital mortality than were comorbidities. Neither pneumococcal serotype nor antibiotic regimen was associated with hospital mortality.
Published: 2018

23. Efficacy, safety and patient-reported outcomes of ledipasvir/sofosbuvir in NS3/4A protease inhibitor-experienced individuals with hepatitis C virus genotype 1 and HIV coinfection with and without cirrhosis (ANRS HC31 SOFTRIH study)

Author: Isabelle Poizot-Martin, P. Perré, Stanislas Pol, Lionel Piroth, L Alric, Stéphanie Dominguez, Thierry Allegre, I. Amri, Yazdan Yazdanpanah, G.-P. Pageaux, M P Carrieri, Eric Billaud, Alissa Naqvi, Eric Bellissant, M Dupon, Marc-Antoine Valantin, Pierre-Marie Girard, Julie Chas, P de Truchis, Vincent Leroy, M. Bourlière, Philippe Morlat, Stéphane Chevaliez, E. Le Pabic, J.-M. Molina, Eric Rosenthal, F Raffi, S. Metivier, Claire Fougerou-Leurent, Hugues Aumaitre, Alain Renault, V. Jeantils, Fabienne Marcellin, François Bailly, Rodolphe Garraffo, Didier Neau, David Zucman, Jacques Reynes, A. Pailhé, Christelle Tual, Karine Lacombe, Laurent Cotte, Elina Teicher, Dominique Salmon-Ceron, Centre Hospitalier Universitaire de Nice (CHU Nice), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Université de Rennes 1 - Faculté de Médecine (UR1 Médecine), Université de Rennes (UR), ORS PACA, Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Centre Hospitalier Saint Jean de Perpignan, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hospices Civils de Lyon (HCL), Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de Maladies Infectieuses et Tropicales [CHU Pitié-Salpêtrière], 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), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire [Grenoble] (CHU), CHU Bordeaux [Bordeaux], Centre Hospitalier du Pays d'Aix, Hôpital Raymond Poincaré [AP-HP], Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Tenon [AP-HP], Hôpital Cochin [AP-HP], Service Maladies infectieuses et tropicales [AP-HP Hôpital Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Centre Hospitalier Départemental - Hôpital de La Roche-sur-Yon (CHD Vendée), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Service d'hépatologie médicale [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Gastro-entérologie [CHU Cochin], Hôpital Saint-Joseph [Marseille], Hôpital Foch [Suresnes], Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), AP-HP - Hôpital Bichat - Claude Bernard [Paris], ANRS France Recherche Nord & sud Sida-hiv hépatites, Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Agence Nationale de Recherches sur le Sida et les Hépatites Virales, Gilead Sciences, KARLI, Mélanie, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Toulouse [Toulouse], Université de Rennes - Faculté de Médecine (UR Médecine), Service des maladies infectieuses et tropicales [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Départemental - Hôpital de La Roche-sur-Yon, Hôpital Bicêtre-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), 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, hepatitis C virus, Cirrhosis, ledipasvir, Sofosbuvir, Sustained Virologic Response, HIV Infections, Pilot Projects, Hepacivirus, medicine.disease_cause, Gastroenterology, chemistry.chemical_compound, 0302 clinical medicine, Pegylated interferon, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Pharmacology (medical), 030212 general & internal medicine, treatment, Health Policy, virus diseases, Middle Aged, 3. Good health, Infectious Diseases, Treatment Outcome, [SDV.SP.PHARMA] Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, Coinfection, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, 030211 gastroenterology & hepatology, Female, medicine.drug, Ledipasvir, medicine.medical_specialty, Genotype, Hepatitis C virus, sofosbuvir, Drug Administration Schedule, 03 medical and health sciences, Internal medicine, medicine, Humans, Protease inhibitor (pharmacology), Patient Reported Outcome Measures, Aged, Fluorenes, business.industry, Ribavirin, HIV, HIV Protease Inhibitors, Hepatitis C, Chronic, medicine.disease, Fibrosis, coinfection, chemistry, HIV-1, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, Benzimidazoles, business
Abstract: International audience; Objectives - Studies evaluating the efficacy and safety of the fixed-dose combination ledipasvir (LDV)/sofosbuvir (SOF) in patients coinfected with HIV-1 and hepatitis C virus (HCV) have mainly included treatment-naïve patients without cirrhosis. We aimed to evaluate the efficacy and safety of this combination in treatment-experienced patients with and without cirrhosis.Methods - We conducted a multicentre, open-label, double-arm, nonrandomized study in patients coinfected with HIV-1 and HCV genotype 1 with and without cirrhosis, who had good viral suppression on their antiretroviral regimens. All patients were pretreated with a first-generation NS3/4A protease inhibitor (PI) plus pegylated interferon/ribavirin. Patients received a fixed-dose combination of LDV/SOF for 12 weeks, or for 24 weeks if cirrhosis was present. The primary endpoint was a sustained virological response (SVR) 12 weeks after the end of therapy. Secondary endpoints included safety, pharmacokinetics and patient-reported outcomes.Results - Of the 68 patients enrolled, 39.7% had cirrhosis. Sixty-five patients [95.6%; 95% confidence interval (CI): 87.6-99.1%; P < 0.0001] achieved an SVR, with similar rates of SVR in those with and without cirrhosis. Tolerance was satisfactory, with mainly grade 1 or 2 adverse events. Among patient-reported outcomes, only fatigue significantly decreased at the end of treatment compared with baseline [odds ratio (OR): 0.36; 95% CI: 0.14-0.96; P = 0.04]. Mean tenofovir area under the plasma concentration-time curve (AUC) at week 4 was high, with mean ± SD AUC variation between baseline and week 4 higher in cirrhotic than in noncirrhotic patients (3261.57 ± 1920.47 ng/mL vs. 1576.15 ± 911.97 ng/mL, respectively; P = 0.03). Mild proteinuria (54.4%), hypophosphataemia (50.0%), blood bicarbonate decrease (29.4%) and hypokalaemia (13.2%) were reported. The serum creatinine level was not modified.Conclusions - LDV/SOF provided a high SVR rate in PI-experienced subjects coinfected with HCV genotype 1 and HIV-1, including patients with cirrhosis.
Published: 2018

24. Prognostic impact of prepercutaneous coronary intervention TIMI flow in patients with ST-segment and non-ST-segment elevation myocardial infarction: Results from the FAST-MI 2010 registry

Author: Jean-Guillaume Dillinger, Bernard Jouve, Fast-Mi investigators, Nadia Aissaoui, Nicolas Danchin, Guillaume Cayla, Jean Ferrières, Etienne Puymirat, Tabassome Simon, Clotilde Bailleul, Francois Schiele, Service de cardiologie [CHU HEGP], 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), 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), Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes), Université de Montpellier (UM), Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Centre Hospitalier du Pays d'Aix, Hôpital Jean Minjoz, Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Service de cardiologie [Toulouse], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], CHU Saint-Antoine [APHP], Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Hôpital de Rangueil, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], CHU Saint-Antoine [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Male, Time Factors, medicine.medical_treatment, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, Percutaneous coronary intervention, 0302 clinical medicine, Risk Factors, Odds Ratio, ST segment, Registries, 030212 general & internal medicine, Myocardial infarction, Non-ST Elevated Myocardial Infarction, Hazard ratio, Flux coronaire, General Medicine, Middle Aged, 3. Good health, Treatment Outcome, surgical procedures, operative, Cardiology, Thrombolysis in myocardial infarction, Female, France, Cardiology and Cardiovascular Medicine, Blood Flow Velocity, TIMI, medicine.medical_specialty, Infarctus du myocarde, Acute myocardial infarction, Lower risk, Risk Assessment, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Coronary Circulation, Internal medicine, Angioplastie coronaire percutanée, medicine, Humans, cardiovascular diseases, Aged, Chi-Square Distribution, business.industry, Odds ratio, medicine.disease, Logistic Models, Multivariate Analysis, Conventional PCI, ST Elevation Myocardial Infarction, business
Abstract: Summary Background Thrombolysis in myocardial infarction (TIMI) flow grade 2 or 3 before percutaneous coronary intervention (PCI) in acute myocardial infarction (AMI) is associated with improved outcomes. However, no recent data are available on its impact beyond 1 year and/or by type of AMI. Aims To assess the prognostic impact of prePCI TIMI flow at 30 days and 3 years in patients with ST-segment elevation (STEMI) or non-ST-segment elevation (NSTEMI) AMI. Methods We compared long-term outcomes associated with TIMI flow grade 2/3 versus 0/1 in patients referred for PCI in the nationwide French registry of acute ST-segment elevation or non-ST-segment elevation myocardial infarction (FAST-MI) 2010. Results TIMI flow grade 2/3 was found in 41% of patients with STEMI and 69% of patients with NSTEMI; it was associated with a lower risk of 30-day death in patients with STEMI (odds ratio 0.30, 95% confidence interval [CI] 0.12–0.77; P = 0.01), but not in patients with NSTEMI (odds ratio 0.57, 95% CI 0.22–1.42; P = 0.23). TIMI grade flow 2/3 was also associated with a lower risk of 3-year death in patients with STEMI (hazard ratio 0.69, 95% CI 0.49–0.98; P = 0.04), but not in patients with NSTEMI (hazard ratio 0.79, 95% CI 0.56–1.11; P = 0.17). Conclusion TIMI flow grade 2/3 is observed more often in patients with NSTEMI; it is an independent predictor of early and late survival in patients with STEMI, but is not significantly related to early or long-term survival in patients with NSTEMI.
Published: 2018

25. Brucella suis biovar 2 infection in humans in France: emerging infection or better recognition?

Author: Alexandra Mailles, M Ogielska, V Nasser, Virginie Mick, A Creuwels, Bruno Garin-Bastuji, H de Valk, Jean-Philippe Lavigne, Maryne Jay, Z Burnusus, P Guiet, Florent Valour, M P Danjean, David O'Callaghan, B Tourrand, Véronique Vaillant, F Kemiche, M. Maurin, N Brieu, Santé publique France - French National Public Health Agency [Saint-Maurice, France], Centre Hospitalier de Blois (CHB), Centre Hospitalier René Dubos [Pontoise], Laboratoire de santé animale, sites de Maisons-Alfort et de Dozulé, Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES), Centre Hospitalier du Pays d'Aix, Centre hospitalier de Sens, Centre Hospitalier d'Agen, Centre Hospitalier Alès-Cévennes, Hospices Civils de Lyon (HCL), CHU Grenoble, Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Virulence bactérienne et maladies infectieuses (VBMI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Santé publique France, Laboratoire de Diagnostic Biologique des Maladies Infectieuses et d'Hygiène, Laboratoire Adaptation et pathogénie des micro-organismes [Grenoble] (LAPM), Université Joseph Fourier - Grenoble 1 (UJF)-Centre National de la Recherche Scientifique (CNRS), Trinity College Dublin, Institut de Veille Sanitaire (INVS), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), and Département des Maladies Infectueuses
Subjects: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Isolation (health care), Brucella suis, Epidemiology, Biovar, Sus scrofa, 030106 microbiology, Biology, emerging diseases, Brucella suis biovar 2, Microbiology, 03 medical and health sciences, Leisure Activities, Wild boar, Risk Factors, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, biology.animal, medicine, Animals, Humans, ComputingMilieux_MISCELLANEOUS, Aged, Zoonosis, Brucellosis, Middle Aged, Raw milk, zoonosis, medicine.disease, biology.organism_classification, Original Papers, Virology, 3. Good health, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, 030104 developmental biology, Infectious Diseases, brucellosis, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, France, wild boar
Abstract: SUMMARYBrucellosis is usually acquired by humans through contact with infected animals or the consumption of raw milk from infected ruminants.Brucella suisbiovar 2 (BSB2) is mainly encountered in hares and wild boars (Sus scrofa), and is known to have very low pathogenicity to humans with only two case reports published in the literature. Human cases of brucellosis caused by BSB2 were identified through the national mandatory notification of brucellosis. The identification of the bacterium species and biovar were confirmed by the national reference laboratory. Epidemiological data were obtained during medical follow-up visits. Seven human cases were identified between 2004 and 2016, all confirmed by the isolation of BSB2 in clinical specimens. All patients had direct contact with wild boars while hunting or preparing wild boar meat for consumption. Five patients had chronic medical conditions possibly responsible for an increased risk of infection. Our findings suggest that BSB2 might be an emerging pathogen in hunters with massive exposure through the dressing of wild boar carcasses. Hunters, especially those with chronic medical conditions, should be informed about the risk of BSB2 infection and should receive information on protective measures.
Published: 2017

26. Feedforward motor control in developmental dyslexia and developmental coordination disorder: Does comorbidity matter?

Author: Brigitte Chabrol, Christine Assaiante, Catherine Hugonenq, Marianne Jover, Frédérique Audic, Marianne Vaugoyeau, Marie-Odile Livet, Aurelie Fontan, Fabien Cignetti, Laboratoire de Neurosciences Cognitives [Marseille] (LNC), Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Santé, Plasticité, Motricité (TIMC-IMAG-SPM), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre de Recherche en Psychologie de la Connaissance, du Langage et de l'Émotion (PsyCLÉ), Aix Marseille Université (AMU), Service de Pédiatrie, Centre Hospitalier du Pays d'Aix, Service de Neurologie Pédiatrique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), ANR-13-APPR-0010,DYSTAC-MAP,Etude neurocognitive de l'apprentissage procédural et de la mémoire procédurale dans la Dyslexie et le Trouble de l'Acquisition de la Coordination(2013), and Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, medicine.medical_specialty, kinematic analysis, Developmental dyslexia, Comorbidity, Development, 050105 experimental psychology, Developmental coordination disorder, Dyslexia, 03 medical and health sciences, Typically developing, 0302 clinical medicine, Physical medicine and rehabilitation, EMG, Child Development, Developmental and Educational Psychology, medicine, Learning disorders, Humans, 0501 psychology and cognitive sciences, School aged children, Internal model, Child, Muscle, Skeletal, Electromyography, musculoskeletal, neural, and ocular physiology, [SCCO.NEUR]Cognitive science/Neuroscience, 05 social sciences, Feed forward, Feedforward control, Motor control, Flexor muscles, medicine.disease, musculoskeletal system, Anticipation, Biomechanical Phenomena, Motor Skills Disorders, Clinical Psychology, Motor Skills, Female, Psychology, 030217 neurology & neurosurgery, Psychomotor Performance
Abstract: Background and aim Feedforward and online controls are two facets of predictive motor control from internal models, which is suspected to be impaired in learning disorders. We examined whether the feedforward component is affected in children (8–12 years) with developmental dyslexia (DD) and/or with developmental coordination disorder (DCD) compared to typically developing (TD) children. Methods Children underwent a bimanual unloading paradigm during which a load supported to one arm, the postural arm, was either unexpectedly unloaded by a computer or voluntary unloaded by the subject with the other arm. Results All children showed a better stabilization (lower flexion) of the postural arm and an earlier inhibition of the arm flexors during voluntary unloading, indicating anticipation of unloading. Between-group comparisons of kinematics and electromyographic activity of the postural arm revealed that the difference during voluntary unloading was between DD-DCD children and the other groups, with the former showing a delayed inhibition of the flexor muscles. Conclusion Deficit of the feedforward component of motor control may particularly apply to comorbid subtypes, here the DD-DCD subtype. The development of a comprehensive framework for motor performance deficits in children with learning disorders will be achieved only by dissociating key components of motor prediction and focusing on subtypes and comorbidities.
Published: 2017

27. Effect on HBs antigen clearance of addition of pegylated interferon alfa-2a to nucleos(t)ide analogue therapy versus nucleos(t)ide analogue therapy alone in patients with HBe antigen-negative chronic hepatitis B and sustained undetectable plasma hepatitis B virus DNA: a randomised, controlled, open-label trial

Author: Fabien Zoulim, Jean-Michel Molina, Laurent Alric, Isabelle Rosa, Magali Picon, Magali Bouvier-Alias, Pascaline Rabiega, Pierre Attali, Yannick Bacq, Patrizia Carrieri, Dominique Thabut, Marc Bourlière, Albert Tran, Vincent Leroy, Inga Bertucci, Fabrice Carrat, Christophe Hézode, Jean-Pierre Bronowicki, Dominique Guyader, Jean-Didier Grangé, Yoann Barthe, Nathalie Ganne-Carrié, Patrick Marcellin, Xavier Causse, Ghassan Riachi, Lawrence Serfaty, Hélène Fontaine, Hôpital Saint-Joseph [Marseille], Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hépatologie [Saint-Antoine], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service d'hépatologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Service d'Hépato-Gastro-Entérologie [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), CHU Pontchaillou [Rennes], Service d'hépato-gastro-entérologie [APHP Henri Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre Hospitalier du Pays d'Aix, Centre Hospitalier Régional d'Orléans (CHRO), Institut d'oncologie/développement Albert Bonniot de Grenoble (INSERM U823), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Nancy (CHU Nancy), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Observatoire régional de la santé Provence-Alpes-Côte d'Azur [Marseille] (ORS PACA), Hôpital Charles Nicolle [Rouen], CHI Créteil, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Service de maladies infectieuses et tropicales [Saint-Louis], Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Hépatologie [Hôpital de la Croix-Rousse - HCL], Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'hépatologie médicale [CHU Cochin], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Pharmacochimie et Biologie pour le Développement (PHARMA-DEV), Institut de Recherche pour le Développement (IRD)-Institut de Chimie de Toulouse (ICT-FR 2599), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Institut de Chimie du CNRS (INC)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut de Chimie du CNRS (INC), ANRS France Recherche Nord & sud Sida-hiv hépatites, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Hépato-gastroentérologie, Assistance Publique - Hôpitaux de Marseille (APHM), Génomique Fonctionnelle des Tumeurs Solides (U1162), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Jean Verdier [Bondy], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), CHU Saint-Antoine [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Hôpital Beaujon-Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service d'Hépato-Gastroentérologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Paul Brousse, Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Cancérologie de Lyon (CRCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut de Recherche pour le Développement (IRD)-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-Centre National de la Recherche Scientifique (CNRS), CHU Saint-Antoine [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)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Recherche pour le Développement (IRD)-Institut de Chimie de Toulouse (ICT), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Service d'hépatologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), and Université Fédérale Toulouse Midi-Pyrénées
Subjects: 0301 basic medicine, Male, Serum, HBsAg, analysis, medicine.disease_cause, Gastroenterology, Polyethylene Glycols, Hepatitis, 0302 clinical medicine, Pegylated interferon, Pregnancy, Hepatitis B e Antigens, Nucleotides, Nucleosides, Hepatitis B, Middle Aged, Recombinant Proteins, 3. Good health, Intention to Treat Analysis, HBeAg, Hepatocellular carcinoma, Medicine, 030211 gastroenterology & hepatology, Female, France, medicine.drug, Adult, medicine.medical_specialty, Hepatitis B virus, Adolescent, Patients, contraindications, [SDV.CAN]Life Sciences [q-bio]/Cancer, Antiviral Agents, Drug Administration Schedule, Time, Injections, methods, 03 medical and health sciences, Young Adult, Hepatitis B, Chronic, Internal medicine, medicine, Humans, Patient Reported Outcome Measures, Aged, therapy, Hepatitis B Surface Antigens, Hepatology, business.industry, Carcinoma, Interferon-alpha, Dna, medicine.disease, Regimen, 030104 developmental biology, Immunology, DNA, Viral, business
Abstract: International audience; BACKGROUND: Findings from uncontrolled studies suggest that addition of pegylated interferon in patients with HBe antigen (HBeAg)-negative chronic hepatitis B receiving nucleos(t)ide analogues with undetectable plasma hepatitis B virus (HBV) DNA might increase HBs antigen (HBsAg) clearance. We aimed to assess this strategy. METHODS: In this randomised, controlled, open-label trial, we enrolled patients aged 18-75 years with HBeAg-negative chronic hepatitis B and documented negative HBV DNA while on stable nucleos(t)ide analogue regimens for at least 1 year from 30 hepatology tertiary care wards in France. Patients had to have an alanine aminotransferase concentration of less than or equal to five times the upper normal range, no hepatocellular carcinoma, and a serum alpha fetoprotein concentration of less than 50 ng/mL, normal dilated fundus oculi examination, and a negative pregnancy test in women. Patients with contraindications to pegylated interferon were not eligible. A centralised randomisation used computer-generated lists of random permuted blocks of four with stratification by HBsAg titres (\textless or \textgreater/=2.25 log10 IU/mL) to allocate patients (1:1) to receive a 48 week course of subcutaneous injections of 180 mug per week of pegylated interferon alfa-2a in addition to the nucleos(t)ide analogue regimen or to continue to receive nucleos(t)ide analogues only. The primary endpoint was HBsAg loss at week 96 by intention-to-treat analysis. This trial is closed and registered with ClinicalTrials.gov, number NCT01172392. FINDINGS: Between Jan 20, 2011, and July 18, 2012, we randomly allocated 185 patients (92 [50%] to pegylated interferon and nucleos(t)ide analogues and 93 [50%] to nucleos(t)ide analogues alone). We excluded two patients from the pegylated interferon plus nucleos(t)ide analogues group from analyses because of withdrawal of consent (one patient) or violation of inclusion criteria (one patient). At week 96, loss of HBsAg was reported in seven (7.8%) of 90 patients in the pegylated interferon plus nucleos(t)ide analogues group versus three (3.2%) of 93 in the nucleos(t)ide analogues-alone group (difference 4.6% [95% CI -2.6 to 12.5]; p=0.15). 85 (94%) of 90 patients started pegylated interferon, three (4%) of whom had a dose reduction and 17 (20%) had an early discontinuation of pegylated interferon (seven [41%] for serious adverse events). Grade 3 and 4 adverse events were more frequent in the pegylated interferon plus nucleos(t)ide analogues group (26 [29%] grade 3 adverse events; 19 [21%] grade 4 adverse events) than in the nucleos(t)ide analogues-alone group (three [3%] grade 3; six [6%] grade 4). INTERPRETATION: Addition of a 48 week course of pegylated interferon to nucleos(t)ide analogue therapy in patients with HBeAg-negative chronic hepatitis B with undetectable HBV DNA for a least 1 year was poorly tolerated and did not result in a significant increase of HBsAg clearance. FUNDING: Institut national de la sante et de la recherche medicale-Agence nationale de recherches sur le sida et les hepatites virales (France Recherche Nord&sud Sida-vih Hepatites)
Published: 2017

28. Prognostic significance of a low T/R ratio in Brugada Syndrome

Author: Alina Scridon, Francis Bessière, A. Da Costa, Claude Kouakam, Jérôme Bouet, Pierre Winum, Horia Rosianu, Jérôme Taieb, Haran Burri, Antoine Delinière, Romain Eschalier, O. Le Vavasseur, Pascal Defaye, Dan Dobreanu, Adrian Baranchuk, Etienne Delacrétaz, Philippe Chevalier, Eloi Marijon, Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Queen's University [Kingston, Canada], CHU Grenoble, 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), 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), L'Hôpital Nord-Ouest [Villefranche sur Saône], University of Medicine and Pharmacy of Târgu Mureș, Physiology Department, University of Medicine and Pharmacy of Tîrgu Mureș, Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Clinique Cecil, Hôpital cardiologique, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Clermont-Ferrand, Hôpitaux Universitaires de Genève (HUG), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre Hospitalier du Pays d'Aix, Universitatea Babeş-Bolyai [Cluj-Napoca], HAL-SU, Gestionnaire, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), 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], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
Subjects: medicine.medical_specialty, EARLY REPOLARIZATION SYNDROME, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Myocardial repolarization, business.industry, Hypertrophic cardiomyopathy, Retrospective cohort study, Sudden cardiac arrest, 030204 cardiovascular system & hematology, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Ventricular fibrillation, medicine, Cardiology, In patient, 030212 general & internal medicine, medicine.symptom, Cardiology and Cardiovascular Medicine, business, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Brugada syndrome
Abstract: Introduction Abnormalities of myocardial repolarization may play a key role in the initiation of ventricular fibrillation (VF) in Brugada syndrome (BrS). Recent studies have shown that the height of the T-waves and the T/R ratio are inversely proportional to the sudden cardiac arrest (SCA) risk in early repolarization syndrome and hypertrophic cardiomyopathy. Objective To study the prognostic value of a low T/R ratio in patients (pts) with a spontaneous Brugada type 1 pattern (SBT1). Method In an international retrospective study, we reviewed 115 pts (mean age 45.1 ± 12.8 years, 91.3% males) with SBT1. Forty-five presented a documented VF and/or SCA at a mean age of 38.7 ± 11.5 years, 20 came from a review of published cases reports. Six ECG markers and the T/R ratio in leads V5 and II were studied. A low T/R ratio was defined by Results The T/R ratio was significantly lower in pts with VF/SCA (lead V5: 0.28 ± 0.15 vs. 0.36 ± 0.17, P = 0.008; lead II: 0.47 ± 0.33 vs. 0.61 ± 0.51, P = 0.04). A low T/R ratio in lead V5 or II was significantly associated with VF/SCA (respectively 44.4% vs. 14.3%, P Fig. 1 ). Conclusion A low T/R ratio in lead V5 is an independent marker for VF/SCA risk in patients with a SBT1.
Published: 2019

29. Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

Author: Felipe Suarez, Fran cois Tron, Nathalie Lambert, Vincent Barlogis, David Boutboul, Yvon Lebranchu, Celine Cazorla, Marie-Olivia Chandesris, Nizar Mahlaoui, Virginie Grandin, Isabelle Melki, Marianne Debré, Stephanie Ndaga, Olivier Hermine, Marguerite Micheau, Corinne Jacques, Gerard Body, Gilles Palenzuela, Christine Bodemer, Virginie Gandemer, Jean-Louis Stephan, Chantal Harre, Rolland Jaussaud, Anne Durandy, Stephane Dominique, Nathalie Aladjidi, Monique Forveille, Catherine Mathey, Martine Munzer, Capucine Picard, Brigitte Bader-Meunier, André Baruchel, Jean-Laurent Casanova, Muriel Le Bourgeois, Eric Oksenhendler, Ling Yun, Angels Natividad, Fanny Fouyssac, Cyrille Hoarau, Stéphane Blanche, Anne Puel, Caroline Thumerelle, Marie-Alexandra Alyanakian, Caroline Thomas, Alain Fischer, Claire Fieschi, Olivier Lortholary, Laboratory of molecular mechanisms of hematologic disorders and therapeutic implications (ERL 8254 - Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - 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), Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Différenciation des cellules B, hémopathies, lymphoïdes et déficit de l'immunité humorale, Université Paris Diderot - Paris 7 (UPD7), Service d'immunologie clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service de pneumologie pédiatrique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hématologie et oncologie pédiatrique, Centre hospitalier universitaire de Nantes (CHU Nantes), Unité Transversale d'Allergologie, Néphrologie et Immunologie Clinique, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service d'hématologie pédiatrique, CHU Saint-Etienne, Service de maladies infectieuses, Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, Laboratoire d'immunologie et biothérapies [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'hématologie et immunologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de pédiatrie, Hôpital de Béziers, Centre Hospitalier du Pays d'Aix, Service de pneumologie, oncologie thoracique et soins intensifs respiratoires [Rouen], Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Hôpital de Châlons-en-Champagne, Service d'hématologie-oncologie pédiatrique, Centre Hospitalier Universitaire de Reims (CHU Reims), Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Médecine interne, maladies infectieuses, immunologie clinique, Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Service d'immuno-hématologie pédiatrique [CHU Necker], Service de Pneumologie Allergologie [CHU Necker], CHU Pontchaillou [Rennes], Centre d'étude des déficits immunitaires, Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de dermatologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Centre de Référence National des Maladies Génétiques à Expression Cutanée (MAGEC)-CHU Necker - Enfants Malades [AP-HP], Centre d'infectiologie Necker-Pasteur [CHU Necker], Institut Pasteur [Paris] (IP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], De Villemeur, Hervé, Laboratoire d'hématologie ( ERL 8254 ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Centre de Référence Déficits Immunitaires Héréditaires ( CEREDIH ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Génétique Humaine des Maladies Infectieuses ( Inserm U980 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Université Paris Diderot - Paris 7 ( UPD7 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Centre hospitalier universitaire de Nantes ( CHU Nantes ), CHRU Tours, CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Hôpital Charles Nicolle [Rouen]-CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Centre Hospitalier Universitaire de Reims ( CHU Reims ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims ( CHU Reims ), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Université Paris Descartes - Paris 5 ( UPD5 ) -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)-Université Paris Descartes - Paris 5 ( UPD5 ) -Centre de Référence National des Maladies Génétiques à Expression Cutanée (MAGEC)-CHU Necker - Enfants Malades [AP-HP], St Giles laboratory of Human Genetics and Infectious Diseases, rockefeller university, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Rouen Normandie (UNIROUEN), Hôpital Charles Nicolle [Rouen]-CHU Rouen, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut Pasteur [Paris], 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), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-CHU Rouen, CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Centre de Référence National des Maladies Génétiques à Expression Cutanée (MAGEC)-CHU Necker - Enfants Malades [AP-HP], Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], and Institut Pasteur [Paris]-CHU Necker - Enfants Malades [AP-HP]
Subjects: Male, Databases, Factual, DNA Mutational Analysis, Eczema, Hypereosinophilia, [SDV.GEN] Life Sciences [q-bio]/Genetics, Aspergillosis, Immunoglobulin E, medicine.disease_cause, Severity of Illness Index, 0302 clinical medicine, [ SDV.IMM ] Life Sciences [q-bio]/Immunology, Phosphorylation, Antibiotic prophylaxis, Child, Respiratory Tract Infections, 0303 health sciences, biology, Incidence, General Medicine, Middle Aged, Staphylococcal Infections, 3. Good health, Child, Preschool, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, France, medicine.symptom, Job Syndrome, Signal Transduction, Adult, STAT3 Transcription Factor, Heterozygote, Adolescent, [SDV.IMM] Life Sciences [q-bio]/Immunology, Mucocutaneous zone, Risk Assessment, Article, Immunocompromised Host, Young Adult, 03 medical and health sciences, Age Distribution, Streptococcus pneumoniae, Pneumonia, Bacterial, medicine, Humans, Genetic Predisposition to Disease, Sex Distribution, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Bronchiectasis, business.industry, Infant, Newborn, Infant, Skin Diseases, Bacterial, medicine.disease, Survival Analysis, Pneumonia, Cross-Sectional Studies, Immunology, biology.protein, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, business, 030215 immunology
Abstract: International audience; ABSTRACT: Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3) is the main genetic etiology of hyper-immunoglobulin (Ig) E syndrome. We documented the molecular, cellular, and clinical features of 60 patients with heterozygous STAT3 mutations from 47 kindreds followed in France. We identified 11 known and 13 new mutations of STAT3. Low levels of interleukin (IL)-6-dependent phosphorylation and nuclear translocation (or accumulation) of STAT3 were observed in Epstein-Barr virus-transformed B lymphocytes (EBV-B cells) from all STAT3-deficient patients tested. The immunologic phenotype was characterized by high serum IgE levels (96% of the patients), memory B-cell lymphopenia (94.5%), and hypereosinophilia (80%). A low proportion of IL-17A-producing circulating T cells was found in 14 of the 15 patients tested. Mucocutaneous infections were the most frequent, typically caused by Staphylococcus aureus (all patients) and Candida albicans (85%). Up to 90% of the patients had pneumonia, mostly caused by Staph. aureus (31%) or Streptococcus pneumoniae (30%). Recurrent pneumonia was associated with secondary bronchiectasis and pneumatocele (67%), as well as secondary aspergillosis (22%). Up to 92% of the patients had dermatitis and connective tissue abnormalities, with facial dysmorphism (95%), retention of decidual teeth (65%), osteopenia (50%), and hyperextensibility (50%). Four patients developed non-Hodgkin lymphoma. The clinical outcome was favorable, with 56 patients, including 43 adults, still alive at the end of study (mean age, 21 yr; range, 1 mo to 46 yr). Only 4 patients died, 3 from severe bacterial infection (aged 1, 15, and 29 yr, respectively). Antibiotic prophylaxis (90% of patients), antifungal prophylaxis (50%), and IgG infusions (53%) improved patient health, as demonstrated by the large decrease in pneumonia recurrence. Overall, the prognosis of STAT3 deficiency may be considered good, provided that multiple prophylactic measures, including IgG infusions, are implemented.
Published: 2012

30. Description des modalités pratiques de prescription d’un facteur de croissance de la lignée granulocytaire (G-CSF) chez les patientes recevant une chimiothérapie pour un cancer du sein : étude Opaline

Author: Cathy Giron, Gabriel Yazbek, D. Azria, Daniel Cassin, Nacera Sakek, Rafik Diab, Alain Rivière, Eric-Charles Antoine, Dominique Mille, Maya Hacini, H. Orfeuvre, William Jacot, Laurence Moureau-Zabotto, Laurent Bastit, Département d'oncologie Médicale, CRLCC Val d'Aurelle - Paul Lamarque, Clinique Hartmann [Neuilly-sur-Seine], Centre Hospitalier Métropole Savoie [Chambéry], CHU Strasbourg, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Centre Hospitalier du Pays d'Aix, Institut Jean Godinot [Reims], UNICANCER, Centre Hospitalier Fleyriat [Bourg en Bresse], Centre Hospitalier Emile Durkheim [Epinal] (CH Epinal / CHED), Clinique Saint-Hilaire [Rouen], Medipole De Savoie, Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), and Institut du Cancer de Montpellier (ICM)
Subjects: Cancer Research, medicine.medical_specialty, Febrile neutropenia, Chemotherapy-Induced Febrile Neutropenia, 03 medical and health sciences, 0302 clinical medicine, Primary prevention, medicine, Chemotherapy, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, ComputingMilieux_MISCELLANEOUS, Gynecology, Secondary prevention, business.industry, Guideline adherence, Prophylaxis, Neutropénie fébrile, Hematology, General Medicine, medicine.disease, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Prophylaxie, business, Growth factors, Facteurs de croissance, Chimiothérapie, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Resume But Decrire les pratiques courantes de prescription du G-CSF en France en cancerologie mammaire, par rapport aux recommandations de l’EORTC en vigueur. Methodes Etude prospective observationnelle conduite entre fevrier 2008 et septembre 2009 evaluant la prescription d’un traitement par G-CSF instaure en prophylaxie primaire (PP) ou secondaire chez 869 patientes traitees par chimiotherapie (quelle que soit la ligne) pour un cancer du sein. Resultats L’âge moyen etait de 55 ans. Au total, 80,3 % des patientes etaient traitees en situation neoadjuvante/adjuvante (SANA), 78,9 % des prescriptions de G-CSF etaient en PP en SANA et 67,5 % en situation metastatique. Parmi les 702 patientes evaluables, les taux de neutropenies severe (NS) et febrile (NF) etaient respectivement de 9,3 % et 4,2 % lors d’une PP contre respectivement 12,4 % et 7,3 % en cas de non-prescription de G-CSF au premier cycle. La prescription de la PP etait principalement dictee par le type de chimiotherapie en SANA et par les facteurs de risque lies a la patiente ou a la maladie en situation localement avancee/metastatique. Conclusion L’etude montre que la prescription de G-CSF en pratique courante est conforme aux recommandations 2010 de l’EORTC avec cependant une tendance a une prescription plus large du G-CSF en pratique reelle.
Published: 2015

31. Rationale and design of the Cyclosporine to ImpRove Clinical oUtcome in ST-elevation myocardial infarction patients (the CIRCUS trial)

Author: David Garcia-Dorado, Frederique Moulin, Meyer Elbaz, Omar Ider, Martine Gilard, Claire Jossan, Gérald Vanzetto, Loic Belle, Pierre Coste, Patrice Colin, Thierry Unterseeh, Jean Luc Dubois-Rande, P. Staat, Gilles Grollier, Jean-Noël Labèque, Grégoire Rangé, P Coussement, Jérôme Clerc, Marc Metge, Jean-Pierre Monassier, Patrice Guerin, Didier Blanchard, Gilles Rioufol, Michel Ovize, Fabrice Prunier, Paul Barragan, Jean-François Aupetit, Eric Bonnefoy-Cudraz, Hervé Lebreton, Arnaud Sudre, Olivier Morel, Vincent Malquarti, Anna Torner, Eskil Elmér, Inesse Boussaha, Thierry Beard, Christophe Tron, Pascal Motreff, Yves Cottin, Guillaume Cayla, Christophe Piot, Olivier Roth, Bernard Jouve, Nicolas Delarche, Thien Tri Cung, P.G. Steg, Denis Angoulvant, Phillipe Dubois, Marie-Claude Morice, Magnus Hansson, Nathan Mewton, Marc J. Claeys, Hôpital Cardiovasculaire Louis Pradel, Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire de Biophotonique et Pharmacologie - UMR 7213 (LBP), 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)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS), Les Hôpitaux Universitaires de Strasbourg (HUS), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Cellules Dendritiques, Immunomodulation et Greffes, Université de Tours (UT), Hôpital Guillaume et René Laennec, Service Cardiologie [CHU Toulouse], Pôle Cardiovasculaire et Métabolique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre hospitalier de Pau, Department of Cardiology (Cardio - BORDEAUX), CHU Bordeaux [Bordeaux], Radiopharmaceutiques biocliniques, Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Henri Duffaut (Avignon), Hôpital Saint Joseph Saint Luc, Centre Hospitalier du Pays d'Aix, CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Service de cardiologie [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Clinique Lafourcade [Bayonne], Hôpital Bichat - Claude Bernard, Lipides - Nutrition - Cancer (U866) (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-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Général, Centre Hospitalier Compiègne-Noyon, Hospital St-Jan Bruges, Service de Cardiologie, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Laboratoire de Protection et Remodelage du Myocarde (PMRM), Université d'Angers (UA)-Université d'Angers (UA), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Emile Muller [Mulhouse] (CH E.Muller Mulhouse), Groupe Hospitalier de Territoire Haute Alsace (GHTHA), Centre hospitalier de la région d'Annecy, CHU Henri Mondor, Polyclinique Les Fleurs, Optimisation des régulations physiologiques (ORPHY (EA 4324)), Université de Brest (UBO)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Clinique Esquirol St Hilaire, Clinique Esquirol St Hilaire - Agen France, Hôpital Privé Jacques Cartier [Massy], Clinique du Diaconat, Grand Hopital de Charleroi, Centre Hospitalier Privé Claude Galien - Ramsay Santé, Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Polyclinique de l'Ormeau, Pôle Cardiologie Interventionnelle / Coro-scanner / IRM Cardiaque, Clinique Saint Gatien, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Clinique de la Sauvegarde [Lyon], Clinique du Tonkin, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Lund University [Lund], Scandinavian Development Services AB, Universiteit Antwerpen = University of Antwerpen [Antwerpen], Vall d'Hebron University Hospital [Barcelona], Cardioprotection, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), The CIRCUS trial is an investigator-initiated trial that is supported by a national PHRC program funded by the French Ministry of Health (PHRC National 2010). Furthermore, it is supported by grants from NeuroVive Pharmaceutical AB, Lund, Sweden, that also provides the study treatment Ciclomulsion® and matching placebo., Jonchère, Laurent, Hospices Civils de Lyon ( HCL ), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Laboratoire de Biophotonique et Pharmacologie - UMR 7213 ( LBP ), 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 ) -Université de Haute-Alsace (UHA) Mulhouse - Colmar ( Université de Haute-Alsace (UHA) ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire de Nîmes ( CHRU Nîmes ), Université de Tours, Service de cardiologie [Toulouse], Université Paul Sabatier - Toulouse 3 ( UPS ) -CHU Toulouse [Toulouse]-Hôpital de Rangueil, Centre Hospitalier de Pau, Department of Cardiology, University Hospital of Rangueil, Department of Cardiology ( Cardio - BORDEAUX ), Université Joseph Fourier - Grenoble 1 ( UJF ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hôspitalier Henri Duffaut, CHU Gabriel Montpied ( CHU ), Service de cardiologie [Rouen], CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Lipides - Nutrition - Cancer (U866) ( 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-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon ( ENSBANA ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), CHU Angers-PRES Université Nantes Angers Le Mans ( UNAM ), Laboratoire de Protection et Remodelage du Myocarde ( PMRM ), Université d'Angers ( UA ) -Université d'Angers ( UA ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Centre Hospitalier Emile Muller [Mulhouse] ( CH E.Muller Mulhouse ), Groupe Hospitalier de Territoire Haute Alsace ( GHTHA ), Optimisation des régulations physiologiques ( ORPHY (EA 4324) ), Université de Brest ( UBO ) -Institut Brestois du Numérique et des Mathématiques ( IBNM ), Université de Brest ( UBO ) -Université de Brest ( UBO ), Institut de Génomique Fonctionnelle ( IGF ), Centre National de la Recherche Scientifique ( CNRS ) -Université Montpellier 2 - Sciences et Techniques ( UM2 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Montpellier 1 ( UM1 ) -Université de Montpellier ( UM ), Centre Hospitalier Privé Claude Galien, 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 ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Universiteit Antwerpen [Antwerpen], Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre National de la Recherche Scientifique (CNRS)-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)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA)), Hôpital de Rangueil, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), 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), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, CIRCUS Study Investigators, and CHU Henri Mondor [Créteil]
Subjects: Male, medicine.medical_specialty, Time Factors, medicine.medical_treatment, Myocardial Infarction, Infarction, Coronary Angiography, Revascularization, Electrocardiography, Percutaneous Coronary Intervention, Double-Blind Method, Internal medicine, medicine, Humans, Prospective Studies, Myocardial infarction, [ SDV.IB ] Life Sciences [q-bio]/Bioengineering, cardiovascular diseases, [SDV.IB] Life Sciences [q-bio]/Bioengineering, Ejection fraction, medicine.diagnostic_test, business.industry, Percutaneous coronary intervention, medicine.disease, 3. Good health, Treatment Outcome, Echocardiography, Heart failure, Cyclosporine, Cardiology, Female, [SDV.IB]Life Sciences [q-bio]/Bioengineering, Human medicine, Cardiology and Cardiovascular Medicine, business, Biomarkers, TIMI
Abstract: International audience; BACKGROUND: Both acute myocardial ischemia and reperfusion contribute to cardiomyocyte death in ST-elevation myocardial infarction (STEMI). The final infarct size is the principal determinant of subsequent clinical outcome in STEMI patients. In a proof-of-concept phase II trial, the administration of cyclosporine prior to primary percutaneous coronary intervention (PPCI) has been associated with a reduction of infarct size in STEMI patients. METHODS: CIRCUS is an international, prospective, multicenter, randomized, double-blinded, placebo-controlled trial. The study is designed to compare the efficacy and safety of cyclosporine versus placebo, in addition to revascularization by PPCI, in patients presenting with acute anterior myocardial infarction within 12 hours of symptoms onset and initial TIMI flow ≤1 in the culprit left anterior descending coronary artery. Patients are randomized in a 1:1 fashion to 2.5 mg/kg intravenous infusion of cyclosporine or matching placebo performed in the minutes preceding PCI. The primary efficacy end point of CIRCUS is a composite of 1-year all-cause mortality, rehospitalization for heart failure or heart failure worsening during initial hospitalization, and left ventricular adverse remodeling as determined by sequential transthoracic echochardiography. Secondary outcomes will be tested using a hierarchical sequence of left ventricular (LV) ejection fraction and absolute measurements of LV volumes. The composite of death and rehospitalization for heart failure or heart failure worsening during initial hospitalization will be further assessed at three years after the initial infarction. RESULTS: Recruitment lasted from April 2011 to February 2014. The CIRCUS trial has recruited 975 patients with acute anterior myocardial infarction. The 12-months results are expected to be available in 2015. CONCLUSIONS: The CIRCUS trial is testing the hypothesis that cyclosporine in addition to early revascularization with PPCI compared to placebo in patients with acute anterior myocardial infarction reduces the incidence of death, heart failure and adverse LV remodeling at one-year follow-up
Published: 2015

32. A randomized trial comparing adjuvant chemotherapy with gemcitabine plus cisplatin with docetaxel plus cisplatin in patients with completely resected non-small-cell lung cancer with quality of life as the primary objective

Author: Jean-Louis Pujol, Jacques Le Treut, Marie-Claude Simeoni, Pascal Auquier, Anderson Loundou, Hervé Le Caer, Pascal Thomas, Christos Chouaid, Alain Vergnenegre, Julien Legodec, Jacky Crequit, Fabrice Barlesi, Elizabeth Fabre-Guillevin, Oncologie multidisciplinaire et innovations thérapeutiques [Hôpital Nord - APHM], Aix Marseille Université (AMU)- Hôpital Nord [CHU - APHM]-Assistance Publique - Hôpitaux de Marseille (APHM), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Respiratory Pathology Department, Centre Hospitalier Creil, Centre Hospitalier de la Dracénie [Draguignan], Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), HIA Sainte Anne, Service de Pathologie respiratoire et allergologie [CHU Limoges], CHU Limoges, Service de Pneumologie, Centre Hospitalier du Pays d'Aix, 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), Santé Publique et maladies Chroniques : Qualité de vie Concepts, Usages et Limites, Déterminants (SPMC), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Departement de chirurgie thoracique et des maladies de l'oesophage [Hôpital Nord - APHM], Hôpital Nord [CHU - APHM]-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital Nord [CHU - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM), Hôpital Nord [CHU - APHM]-Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Saint-Antoine [APHP], Centre Hospitalier Draguignan, Hôpital Universitaire Arnaud de Villeneuve, Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Santé Publique et maladies Chroniques : Qualité de vie Concepts, Usages et Limites, Déterminants ( SPMC ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ), and Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital Nord [CHU - APHM]
Subjects: Oncology, Male, Lung Neoplasms, Time Factors, SURGERY, medicine.medical_treatment, Docetaxel, Kaplan-Meier Estimate, Deoxycytidine, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, Carcinoma, Non-Small-Cell Lung, Surveys and Questionnaires, Antineoplastic Combined Chemotherapy Protocols, Pneumonectomy, SCORES, Middle Aged, Chemotherapy regimen, QUESTIONNAIRE QLQ-C30, 3. Good health, Treatment Outcome, Chemotherapy, Adjuvant, Female, Taxoids, France, Cardiology and Cardiovascular Medicine, Adjuvant, CLINICAL-TRIALS, medicine.drug, Pulmonary and Respiratory Medicine, Adult, Quality of life, medicine.medical_specialty, CARCINOMA, [SDV.CAN]Life Sciences [q-bio]/Cancer, Vinorelbine, Internal medicine, medicine, Humans, Lung cancer, Aged, Neoplasm Staging, Cisplatin, business.industry, IB, medicine.disease, ONCOLOGY, Gemcitabine, PHASE-III, Adjuvant chemotherapy, Regimen, business, Non-small-cell lung cancer
Abstract: International audience; OBJECTIVES: Adjuvant chemotherapy with vinorelbine plus cisplatin (VC) improves survival in resected non-small-cell lung cancer (NSCLC), but has negative impact on quality of life (QoL). In advanced NSCLC, gemcitabine plus cisplatin (GC) and docetaxel plus cisplatin (DC) exhibit comparable efficacy, with possibly superior QoL compared to VC. This trial investigated these regimens in the adjuvant setting. METHODS: Patients with Stage IB to III NSCLC were eligible following standardized surgery. Overall, 136 patients were included, with 67 and 69 assigned to the GC and DC arms, respectively. Cisplatin (75 mg/m(2), Day [D] 1) plus gemcitabine (1250 mg/m(2), D1 and D8) or docetaxel (75 mg/m(2) D1) were administered for three cycles. Primary end-point was QoL (EORTC QLQ-C30), with the study designed to detect a 10-point difference between arms. Overall survival, safety and cost were secondary end-points. RESULTS: No between-group imbalance was observed in terms of patient characteristics. At inclusion, global health status (GHS) scores (/100) were 63.5 and 62.7 in GC and DC, respectively (P = 0.8), improving to 64.5 and 65.4 after 3 months (P = 0.8). No significant difference in functional or symptoms scores was observed between the arms except for alopecia. Grade 3/4 haematological and non-haematological toxicities were found in 33.8 and 21.7% (P = 0.11), and 33.8 and 26.1% (P = 0.33) of patients, in GC and DC, respectively. At 2 years, 92.9 and 89.8% of patients remained alive in GC and DC, respectively (P = 0.88). CONCLUSIONS: DC and GC adjuvant chemotherapies for completely resected NSCLC were well tolerated and appear free of major QoL effects, and are therefore representing candidates for comparison with the standard VC regimen.
Published: 2015

33. Boceprevir (BOC) and Telaprevir (TPV) therapeutic drug monitoring in HCV and HIV-HCV infected patients treated with triple therapy Ribavirine/Peg-interferon/Boceprevir or Telaprevir: impact of the antiretroviral (ARV) treatment

Author: Olivia Faucher-Zaegel, Assi Assi, Catherine Dhiver, Philippe Halfon, Danielle Botta-Fridlund, Anne-Sophie Chantry, Jean-Marie Ruiz, M Tching-Sin, Caroline Solas, Thierry Allegre, Service de Pharmacocinétique et de Toxicologie, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service des Maladies Infectieuses, Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Service Hématologie et Médecine Interne, Centre Hospitalier du Pays d'Aix, Unité de Consultation et Soins Ambulatoires, Assistance Publique - Hôpitaux de Marseille (APHM)-Groupe Hospitalier Sud-Centre pénitentiaire de Marseille (prison des Baumettes), Infectiologie - Maladies infectueuses et conseils aux voyageurs, Centre Hospitalier Intercommunal Toulon-La Seyne sur Mer - Hôpital Sainte-Musse-Centre Hospitalier Intercommunal de Toulon - La Seyne-sur-Mer, Chirurgie Digestive, Médecine générale, Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital Européen [Fondation Ambroise Paré - Marseille], Laboratore Alphabio, Service Immuno-Hématologie, Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), Centre de Recherches en Oncologie biologique et Oncopharmacologie (CRO2), Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), and BMC, Ed.
Subjects: Efavirenz, Pharmacology, Telaprevir, chemistry.chemical_compound, immune system diseases, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Boceprevir, Medicine, Darunavir, ComputingMilieux_MISCELLANEOUS, Hepatitis, medicine.diagnostic_test, business.industry, virus diseases, Lopinavir, Drug interaction, medicine.disease, Virology, 3. Good health, Infectious Diseases, chemistry, Therapeutic drug monitoring, Poster Presentation, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, business, medicine.drug
Abstract: BOC and TPV are potent NS3/4A protease inhibitors for the treatment of chronic hepatitis C (HCV) genotype 1 infection. BOC and TPV are both substrates and strong inhibitors of the CYP3A, therefore presenting a wide interindividual pharmacokinetic variability and multiple drug interactions especially with ARV such as lopinavir/r, darunavir/r or efavirenz, thus restricting options for concomitant ARV therapy. We evaluated plasma concentrations of coinfected and monoinfected patients treated with BOC and TPV and the PK data of patients treated with non recommended ARV.
Published: 2014

34. EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

Author: Lesage, Suzanne, Condroyer, Christel, Klebe, Stephan, Lohmann, Ebba, Durif, Franck, Damier, Philippe, Tison, François, Anheim, Mathieu, Honoré, Aurélie, Viallet, François, Bonnet, Anne-Marie, Ouvrard-Hernandez, Anne-Marie, Vidailhet, Marie, Durr, Alexandra, Brice, Alexis, Parkinson's Disease Genetics Study Group 1, INSERM UMR_S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), 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)-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), CIC AP-HP (pitie-Salpetriere)/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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Department of Neurology, University Hospital of Würzburg-University Hospital of Würzburg, Service de Neurologie [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), 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 Génétique Cytogénétique et Embryologie [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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neurologie, Centre Hospitalier du Pays d'Aix, Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, National Research Agency (ANR-08-NEUR-004-01) in the ERA-NET NEURON framework, for the French Parkinson's Disease Genetics Study Group, European Project, Pollak, Pierre, Lesage, Suzanne, National Research Agency (ANR-08-NEUR-004-01) in the ERA-NET NEURON framework - INCOMING, CHU Gabriel Montpied [Clermont-Ferrand], and CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand]
Subjects: Nonsynonymous substitution, Male, Aging, Parkinson's disease, DNA Mutational Analysis, Eukaryotic Initiation Factor-4G/genetics, Eukaryotic initiation factor 4F, Exon, 0302 clinical medicine, MESH: Aged, 80 and over, European Continental Ancestry Group/genetics, MESH: DNA Mutational Analysis, EIF4G1, Genetics, Aged, 80 and over, MESH: Aged, 0303 health sciences, education.field_of_study, MESH: Middle Aged, General Neuroscience, Genetic Predisposition to Disease/genetics, MESH: Genetic Predisposition to Disease, Parkinson Disease, MESH: Eukaryotic Initiation Factor-4G, MESH: European Continental Ancestry Group, Middle Aged, MESH: Young Adult, Mutation analyses, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], France, Adult, MESH: Mutation, Mutation/genetics, Population, Biology, White People, 03 medical and health sciences, Young Adult, Eukaryotic translation, medicine, Initiation factor, Humans, Genetic Predisposition to Disease, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], education, Gene, 030304 developmental biology, Aged, Family Health, Parkinson Disease/genetics/pathology, MESH: Humans, MESH: Adult, medicine.disease, MESH: Male, ddc:616.8, MESH: France, Mutation, MESH: Family Health, Neurology (clinical), Geriatrics and Gerontology, Eukaryotic Initiation Factor-4G, MESH: Female, 030217 neurology & neurosurgery, MESH: Parkinson Disease, Developmental Biology
Abstract: International audience; Mutations in the eukaryotic translation initiation factor 4-gamma (EIF4G1) gene, encoding a component of the eIF4F translation initiation complex, were recently reported as a possible cause for the autosomal dominant form of Parkinson's disease (PD). Here, we describe the screening of all 31 EIF4G1 coding exons in a series of 251 index cases with autosomal dominant PD, mostly of French origin and in 236 European control subjects. We identified 12 rare coding variants (either nonsynonymous amino acid substitutions or in frame deletions/insertions), including 6 variants present only in cases and 3 in controls. Segregation was possible only for 1 variant (p.E462delInsGK) that was found in 2 affected siblings. In addition, we found 2 previously reported pathogenic variants in 2 isolated patients (p.G686C) and in a control subject (p.R1197W). These data do not support the pathogenicity of several EIF4G1 variants in PD, at least in the French population.
Published: 2012

35. Disease Severity and Progression in Progressive Supranuclear Palsy and Multiple System Atrophy: Validation of the NNIPPS – PARKINSON PLUS SCALE

Author: Payan, Christine A. M., Viallet, François, Agid, Yves, Ludolph, Albert C., Leigh, Peter N., Bensimon, Gilbert, NNIPPS Study Group, Landwehrmeyer, Bernhard Georg, Bonnet, Anne-Marie, Borg, Michel, Durif, Franck, Lacomblez, Lucette, Bloch, Frédéric, Verny, Marc, Fermanian, Jacques, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Immunologie - Immunopathologie - Immunothérapeutique (I3), 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), Centre Hospitalier du Pays d'Aix, University of Ulm (UUlm), Fédération de neurologie 4, Sorbonne Université (SU)-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), CIC AP-HP [CHU Pitié-Salpêtrière], 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Pasteur [Nice] (CHU), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Laboratoire International de Neuroimagerie et Modélisation (Linem), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université de Montréal (UdeM)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Sussex, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), and Univ Angers, Okina
Subjects: Psychometrics, [SDV]Life Sciences [q-bio], lcsh:Medicine, Limb dystonia, Social and Behavioral Sciences, Gastroenterology, Severity of Illness Index, 0302 clinical medicine, Psychology, lcsh:Science, Randomized Controlled Trials as Topic, Dystonia, Observer Variation, Multidisciplinary, Movement Disorders, Statistics, Neurodegenerative Diseases, Parkinson Disease, 3. Good health, [SDV] Life Sciences [q-bio], Neurology, RC0346, Disease Progression, Medicine, Supranuclear Palsy, Progressive, medicine.symptom, Research Article, Test Evaluation, medicine.medical_specialty, Drugs and Devices, Biology, Biostatistics, Progressive supranuclear palsy, 03 medical and health sciences, Atrophy, Neuropharmacology, Rating scale, Diagnostic Medicine, 030225 pediatrics, Internal medicine, Severity of illness, medicine, Humans, lcsh:R, Multiple System Atrophy, medicine.disease, nervous system diseases, Physical therapy, lcsh:Q, Myoclonus, 030217 neurology & neurosurgery, Mathematics
Abstract: PLoS one 6(8), e22293 (2011). doi:10.1371/journal.pone.0022293, Published by PLoS, Lawrence, Kan.
Published: 2011

36. Impact of oral anticoagulation on morbidity of transurethral resection of the prostate

Author: Marc Fourmarier, Nicolas Barry-Delongchamps, Alexandre de la Taille, M. Devonec, Christian Saussine, Grégoire Robert, Abdel Rahmene Azzousi, Alain Bougault, Aurélien Descazeaud, Souhil Lebdai, Olivier Haillot, Service de Néphrologie, Dialyse, Transplantations [CHU Limoges], CHU Limoges, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Service d'urologie, andrologie et transplantation rénale, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service d'urologie, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service d'urologie [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Service d'urologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Hospitalier du Pays d'Aix, CHU Strasbourg, Service d'urologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'urologie [Mondor], 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)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Guellaen, Georges, Institut National de la Santé et de la Recherche Médicale (INSERM) - IFR10 - Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université Bordeaux Segalen - Bordeaux 2 - CHU Bordeaux [Bordeaux] - Groupe hospitalier Pellegrin, CHU Angers, Hôpital Bretonneau - CHRU Tours, Hospices Civils de Lyon (HCL) - Hospices Civils de Lyon (HCL), Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Cochin [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Henri Mondor - Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
Subjects: Nephrology, Adult, Male, medicine.medical_specialty, Urology, medicine.medical_treatment, 030232 urology & nephrology, Oral anticoagulation, Administration, Oral, urologic and male genital diseases, 03 medical and health sciences, 0302 clinical medicine, Prostate, Internal medicine, Thromboembolism, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Transurethral resection of the prostate, Aged, Hematuria, Aged, 80 and over, Aspirin, business.industry, Warfarin, Transurethral Resection of Prostate, Anticoagulants, Hyperplasia, Length of Stay, Middle Aged, Clopidogrel, medicine.disease, 3. Good health, Surgery, TURP, medicine.anatomical_structure, 030220 oncology & carcinogenesis, BPH, Platelet aggregation inhibitor, Morbidity, business, Erythrocyte Transfusion, Platelet Aggregation Inhibitors, medicine.drug
Abstract: To assess the impact of oral anticoagulation (OA) on morbidity of transurethral resection of the prostate (TURP). OA included warfarin and platelet aggregation inhibitors (PAI). Multicenter analysis of patients operated for symptomatic benign prostatic hyperplasia (BPH) by TURP. Patients under OA were compared to those with no OA. Out of 612 patients included in the analysis, 206 (33%) were on OA prior surgery (55 warfarin, 142 PAI, and 9 warfarin and PAI). No patient continued warfarin and clopidogrel during the operating period. Patients under OA were significantly older (75 vs. 71 yo, P
Published: 2011

37. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Author: Charlotte Dravet, Oriane Trouillard, Claude Adam, Cécile Saint-Martin, Clothilde Rivier-Ringenbach, Sophie Dupont, Eric LeGuern, Stéphanie Baulac, Isabelle Gourfinkel-An, Marie-Anne Barthez-Carpentier, Marie-Odile Livet, Rima Nabbout, Delphine Bouteiller, Delphine Héron, Denis Graber, Nathalie Villeneuve, Christel Depienne, Agnès Gautier, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), 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 Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Clinique de l'Enfant, CH La Rochelle, Service de Neuropédiatrie [Clocheville], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Gatien de Clocheville, Serice de Neuropédiatrie, Service de Neurologie, Hôpital Henri Gastaut, Service de Pédiatrie, Centre Hospitalier du Pays d'Aix, Service de pédiatre-Néonatologie, CH Villefranche s/Saone, Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière (NEMESIS-CRICM), 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)-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), Département de Neuropédiatrie, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), 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), Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Epilepsies de l'Enfant et Plasticité Cérébrale (U1129), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière ( CRICM ), 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 ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre de référence des épilepsies rares, CHRU Tours-Hôpital Gatien de Clocheville, Epilepsies de l'Enfant et Plasticité Cérébrale ( U1129 ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-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), Peer, Hal, Service de génétique, cytogénétique, embryologie [CHU Pitié-Salpétrière], and Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP]
Subjects: Proband, Male, medicine.medical_specialty, DNA Mutational Analysis, Mutation, Missense, Epilepsies, Myoclonic, Nerve Tissue Proteins, Genetic screening/counselling, Biology, medicine.disease_cause, Sodium Channels, 03 medical and health sciences, 0302 clinical medicine, Dravet syndrome, Molecular genetics, Genetics, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Missense mutation, Humans, Genetic Predisposition to Disease, Clinical genetics, Allele, Child, Genetics (clinical), 030304 developmental biology, Sequence Deletion, Family Health, 0303 health sciences, Mutation, Syndrome, medicine.disease, Phenotype, 3. Good health, Pedigree, Epilepsy and seizures, NAV1.1 Voltage-Gated Sodium Channel, Codon, Nonsense, Medical genetics, Female, RNA Splice Sites, 030217 neurology & neurosurgery
Abstract: International audience; Background. Mutations in SCN1A can cause Genetic Epilepsy with Febrile Seizures Plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types). Although the mutational spectra are distinct, these disorders share major features and 10% of DS patients have an inherited SCN1A mutation. Objectives and patients. We studied 19 selected families with at least one DS patients to describe the mechanisms accounting for inherited SCN1A mutations in DS. The mutation identified in the DS probands was searched in available parents and relatives and quantified in the blood cells of the transmitting parent using quantitative allele-specific assays. Results. Mosaicism in the blood cells of the transmitting parent was demonstrated in 12 cases and suspected in another case. The proportion of mutated allele in the blood varied from 0.04% to 85%. In the 6 remaining families, six novel missense mutations were associated with autosomal dominant variable GEFS+ phenotypes including DS as the more severe clinical picture. Conclusion. Our results indicate that mosaicism is found in at least 7% of families with at least one DS patient and that it accounts for 68 % (13/19) of inherited mutations associated with DS. On the contrary, in the remaining cases (6/19, 32%), the patients were part of multiplex GEFS+ families and seemed to represent the extreme end of the GEFS+ clinical spectrum. In this latter case, additional genetic or environmental factors likely modulate the severity of the expression of the mutation.
Published: 2010

38. Impact of lower urinary tract symptoms on discomfort in men aged between 50 and 80 years

Author: Bertrand Lukacs, Alexandre de la Taille, Grégoire Robert, Charles Ballereau, Aurélien Descazeaud, François Desgrandchamps, Rahmene Azzouzi, O. Dumonceau, Christian Saussine, Olivier Haillot, Marian Devonec, Marc Fourmarier, Nicolas Barry Delongchamps, Service d'urologie, andrologie et transplantation rénale, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de Néphrologie, Dialyse, Transplantations [CHU Limoges], CHU Limoges, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Strasbourg, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Fondation Hôpital Saint Joseph, Clinique la Louvière, Centre Hospitalier d'Aix en Provence [Aix-en-Provence] (CHIAP ), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Saint-Louis, Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), INSERM U955, équipe 7, Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Université Bordeaux Segalen - Bordeaux 2 - CHU Bordeaux [Bordeaux] - Groupe hospitalier Pellegrin, Institut National de la Santé et de la Recherche Médicale (INSERM) - IFR10 - Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de Néphrologie, Hémodialyse, Transplantations, PRES Université Nantes Angers Le Mans [UNAM], Centre Hospitalier Régional Universitaire de Tours, CHRU Tours, CH du Pays d'Aix, Centre Hospitalier du Pays d'Aix, Hospices Civils de Lyon / Centre hospitalier Lyon Sud (HCL), Hospices Civils de Lyon, CHU Cochin [APHP], CHU Tenon [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) - Université Paris Diderot - Paris 7 (UP7), Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Henri Mondor - Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12) - Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Henri Mondor - Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12) - Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM) - IFR10 - Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12) - Institut National de la Santé et de la Recherche Médicale (INSERM) - IFR10, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Guellaen, Georges
Subjects: Male, medicine.medical_specialty, Pediatrics, Urology, Population, 030232 urology & nephrology, MEDLINE, Prostatic Hyperplasia, urologic and male genital diseases, 03 medical and health sciences, 0302 clinical medicine, Age Distribution, Quality of life, Lower urinary tract symptoms, Surveys and Questionnaires, Epidemiology, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Prevalence, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, education, Aged, Gynecology, Aged, 80 and over, education.field_of_study, business.industry, Age Factors, Middle Aged, medicine.disease, Urination Disorders, Health Surveys, 3. Good health, 030220 oncology & carcinogenesis, Quality of Life, Age distribution, France, business
Abstract: Background/Aims: There are only a few surveys on the prevalence of lower urinary tract symptoms (LUTS) among the general population. The aim of this survey was to assess the prevalence of LUTS and their impact on discomfort in men. Methods: A questionnaire was mailed to 3,877 men aged 50–80 years, which included questions on their medical history, demographic and sociological status, and also the International Prostate Symptom Score (IPSS) with additional questions on discomfort related to urinary symptoms. Results: The response rate was 81.5%. Prevalence of mild and severe IPSS was 89.2%. Specific bother for each urinary symptom depended on symptom frequency: urgency, frequency, weak stream, nocturia, incomplete emptying, intermittency and straining 1 time out of 5 were responsible for discomfort in respectively 4.9, 6.1, 7.1, 7.5, 8.7 and 9.9%; the same symptoms more than half of the time were responsible for discomfort in respectively 32.8, 38, 45.3, 45.6, 53.2 and 58.7%. Urgency was much more deeply implicated in discomfort than frequency of nocturia. Conclusions: Urinary symptoms in men are very common. Nocturia is the most frequent but has a low impact on discomfort. Urgency has a higher impact on discomfort and should therefore be considered in treatment decision-making.
Published: 2009

39. LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans

Author: Suzanne, Lesage, Sabine, Janin, Ebba, Lohmann, Anne-Louise, Leutenegger, Laurence, Leclere, François, Viallet, Pierre, Pollak, Franck, Durif, Stéphane, Thobois, Valérie, Layet, Marie, Vidailhet, Yves, Agid, Alexandra, Dürr, Alexis, Brice, Anne-Marie, Bonnet, Michel, Borg, Emmanuel, Broussolle, Philippe, Damier, Alain, Destée, Maria, Martinez, Christiane, Penet, Olivier, Rasco, François, Tison, Christine, Tranchan, Marc, Vérin, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Neurologie [Aix-en-Provence], Centre Hospitalier du Pays d'Aix, Neurosciences précliniques, Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Service de Neurologie, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Unité de Cytogénétique et Génétique Médicale, Groupe Hospitalier du Havre-Hôpital Gustave Flaubert, Service de neurologie [Saint-Antoine], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), LSHM-CT-2003-503330/APOPIS (European Commission), grant NS41723-01A1 (National Institutes of Health), grant ANR-05-NEUR- 019 (Agence Nationale de la Recherche), by the Association France–Parkinson, ANR Neurosciences 2005, Apopis, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], 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: Adult, Male, Threonine, Adolescent, DNA Mutational Analysis, Disease, Protein Serine-Threonine Kinases, Biology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Parkin, Exon, Degenerative disease, Arts and Humanities (miscellaneous), Serine, medicine, Humans, Histidine, Aged, Aged, 80 and over, Genetics, Haplotype, Parkinson Disease, Exons, Middle Aged, medicine.disease, LRRK2, Phenotype, nervous system diseases, Europe, Mutation, Mutation (genetic algorithm), Tyrosine, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical)
Abstract: International audience; BACKGROUND: Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases. OBJECTIVES: To assess the frequency of LRRK2 exon 41 mutations in a series of sporadic PD cases from Europe and to determine the clinical features of LRRK2 mutation carriers. DESIGN: We analyzed European cases of sporadic PD for the presence of LRRK2 exon 41 mutations. These mutations were screened by denaturing high-performance liquid chromatography, and abnormal chromatograph traces were investigated by direct sequencing to determine the exact nature of the variants. Early-onset sporadic PD cases were also screened for parkin mutations. The haplotypes associated with the G2019S mutation were determined. The clinical characteristics of patients carrying LRRK2 mutations were detailed. SETTING: French Network for the Study of Parkinson Disease Genetics. Patients Three hundred twenty patients with apparently sporadic PD from Europe. MAIN OUTCOME MEASURES: Results of genetic analyses. RESULTS: We found the G2019S mutation in 6 patients and identified 2 new variants (Y2006H and T2031S) in 1 patient each. Their clinical features were similar to those of typical PD. All G2019S mutation carriers shared a common haplotype. CONCLUSIONS: The G2019S mutation is almost as frequent in sporadic cases (1.9%) as in previously reported familial cases (2.9%) in Europe and occurs in the same common founder. We identified 2 novel variants. Although the phenotype of LRRK2 mutation carriers closely resembles that of typical PD, the age at onset was younger (29 years in 1 patient) than previously described, and 3 patients were improved by deep brain stimulation.
Published: 2007

40. Employment loss following HIV infection in the era of highly active antiretroviral therapies

Author: Dray-Spira, Rosemary, Persoz, Anne, Boufassa, Faroudy, Guéguen, Alice, Lert, France, Allegre, Thierry, Goujard, Cécile, Meyer, Laurence, Cohort Study Group, Primo, Santé publique et épidémiologie des déterminants professionnels et sociaux de la santé, Epidémiologie, sciences sociales, santé publique (IFR 69), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Epidémiologie, Démographie et Sciences Sociales: santé reproductive, sexualité et infection à VIH (Inserm U569), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut national d'études démographiques (INED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Hématologie et Médecine Interne, Centre Hospitalier du Pays d'Aix, Service de médecine interne et maladies infectieuses, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Kaniewski, Nadine, Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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 de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Hôpital Bicêtre-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)
Subjects: Male, Multivariate analysis, HIV Infections, Disease, MESH: Research Support, Non-U.S. Gov't, MESH: Antiretroviral Therapy, Highly Active, 0302 clinical medicine, Antiretroviral Therapy, Highly Active, 030212 general & internal medicine, Prospective Studies, Prospective cohort study, Generalized estimating equation, MESH: Aged, MESH: Middle Aged, MESH: Employment, MESH: HIV Infections, Middle Aged, 3. Good health, Female, France, 0305 other medical science, Viral load, Adult, Employment, medicine.medical_specialty, MESH: Socioeconomic Factors, Adolescent, 03 medical and health sciences, Internal medicine, medicine, Humans, Aged, MESH: Adolescent, 030505 public health, MESH: Humans, business.industry, Public Health, Environmental and Occupational Health, MESH: Adult, Odds ratio, medicine.disease, Comorbidity, Confidence interval, MESH: Prospective Studies, MESH: Male, MESH: France, Socioeconomic Factors, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Physical therapy, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, MESH: Female
Abstract: BACKGROUND: Employment is a major factor in maintaining living conditions of patients with chronic diseases. This study aimed to quantify the frequency and to identify the determinants of employment loss during the first years of HIV disease in the era of highly active antiretroviral therapies (HAART). METHODS: The French PRIMO multicentre prospective cohort of 319 patients enrolled during primary HIV-1 infection between 1996 and 2002. Employment loss was defined as moving from employment to inactivity between two visits. Characteristics associated with employment loss were assessed using generalized estimating equations. RESULTS: During a median follow-up time of 2.5 years, 56 employment losses occurred among 51 patients (18.0%). In multivariate analysis, female gender (adjusted odds ratio 3.1; 95% confidence interval 1.1-8.5), non-permanent job (3.8; 1.5-9.3) and poor accommodation (4.2; 1.6-11.2) constituted independent risk factors for employment loss; subjects with a high occupational position had a decreased risk of job loss. Moreover, an updated HIV viral load above 10 000 copies/ml either persistent (2.4; 1.1-5.0) or incident (3.7; 1.0-13.9) and hospitalization in the preceding 6 months (3.9; 1.6-9.7) constituted independent risk factors for employment loss, as tended to be a baseline CD4 cell count
Published: 2006

41. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

Author: Alexis Brice, A. Lagueny, Lucie Guyant-Maréchal, Laurent Vercueil, C.P. Jedynak, G. Ponsot, Emmanuel Roze, Christine Tranchant, M.A. Cournelle, Didier Hannequin, F. Durif, Philippe Damier, Stéphane Thobois, S. Tezenas du Montcel, Bernard Echenne, J. L. Houeto, Fabienne Clot, Alexandra Durr, M. Vidailhet, Diane Doummar, Agnès Camuzat, Département de Biostatistique, Santé Publique et Information Médicale [CHU Pitié-Salpêtrière] (BIOSPIM ), 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), Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de neurologie [Saint-Antoine], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Neurobiologie des processus adaptatifs (NPA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Clinique neurologique, Hôpital Laennec, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Service de Neurologie, Hôpital du Haut-L'Evêque, Service de Clinique Neurologique, CHU Grenoble, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de La Milétrie, Service de neuropédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Saint-Vincent de Paul, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service de Pédiatrie, Centre Hospitalier du Pays d'Aix, Service de Neurologie [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Service de Neuropédiatrie, Hôpital Gui de Chauliac [Montpellier], Département de Neurologie, CHU Strasbourg-Hopital Civil, This work was supported by INSERM, Réseau National Dystonies and GIS-Maladies Rares, and the patients' associations AMADYS and Ligue Française Contre la Dystonie., Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Antoine [AP-HP], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], Hôpital Gui de Chauliac [CHU Montpellier], and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)
Subjects: Male, Myoclonus, DNA Mutational Analysis, Cohort Studies, 0302 clinical medicine, myoclonus dystonia, Missense mutation, Child, Genetics (clinical), Dystonia, Genetics, 0303 health sciences, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Myoclonic dystonia, Syndrome, Middle Aged, Penetrance, 3. Good health, Dystonic Disorders, Child, Preschool, Original Article, Female, France, medicine.symptom, Chromosomes, Human, Pair 7, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, phenotype, Nonsense mutation, Biology, 03 medical and health sciences, SGCE, Chorea, Sarcoglycans, medicine, Humans, Genetic Testing, essential myoclonus, 030304 developmental biology, Aged, Infant, medicine.disease, nervous system diseases, epsilon sarcoglycan gene, mutation, 030217 neurology & neurosurgery, Dystonic disorder, Molecular Chaperones
Abstract: Background: Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene ( SGCE ) on chromosome 7q21. Methods: We have screened for SGCE mutations in index cases from 76 French patients with myoclonic syndromes, including myoclonus dystonia (M-D), essential myoclonus (E-M), primary myoclonic dystonia, generalised dystonia, dystonia with tremor, and benign hereditary chorea. All coding exons of the SGCE gene were analysed. The DYT1 mutation was also tested. Results: Sixteen index cases had SGCE mutations while one case with primary myoclonic dystonia carried the DYT1 mutation. Thirteen different mutations were found: three nonsense mutations, three missense mutations, three splice site mutations, three deletions, and one insertion. Eleven of the SGCE index cases had M-D and five E-M. No SGCE mutations were detected in patients with other phenotypes. The total number of mutation carriers in the families was 38, six of whom were asymptomatic. Penetrance was complete in paternal transmissions and null in maternal transmissions. MDS patients with SGCE mutation had a significantly earlier onset than the non-carriers. None of the patients had severe psychiatric disorders. Conclusion: This large cohort of index patients shows that SGCE mutations are primarily found in patients with M-D and to a lesser extent E-M, but are present in only 30% of these patients combined (M-D and E-M).
Published: 2006

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