المؤلفون: Moreau, Thibault, Draï, Raphaël

المصدر: Si c'était Jérusalem. (2018) 263-274

Subject Person: Draï, Raphaël

جغرافية الموضوع: Jerusalem (Israel) -- History -- Religious aspects -- Judaism

الوصول الحر: https://uli.nli.org.il/discovery/search?query=isbn,exact,9782848354507&tab=LibraryCatalog&search_scope=MyInstitution&vid=972NNL_ULI_C:MAINTest

المؤلفون: Benallegue, Nail, Rollot, Fabien, Wiertlewski, Sandrine, Casey, Romain, Debouverie, Marc, Kerbrat, Anne, de Seze, Jérôme, Ciron, Jonathan, Ruet, Aurelie, Labauge, Pierre, Maillart, Elisabeth, Zephir, Helene, Papeix, Caroline, Defer, Gilles, Lebrun-Frenay, Christine, Moreau, Thibault, Berger, Eric, Stankoff, Bruno, Clavelou, Pierre, Heinzlef, Olivier, Pelletier, Jean, Thouvenot, Eric, Al Khedr, Abdullatif, Bourre, Bertrand, Casez, Olivier, Cabre, Philippe, Wahab, Abir, Magy, Laurent, Vukusic, Sandra, Laplaud, David-Axel

المساهمون: Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology (U1064 Inserm - CR2TI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), CIC Plurithématique de Nantes, Institut National de la Santé et de la Recherche Médicale (INSERM)-Ministère des Affaires sociales et de la Santé-Direction générale de l'offre de soins (DGOS)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Hôpital neurologique et neurochirurgical Pierre Wertheimer CHU - HCL, Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Observatoire Français de la Sclérose En Plaques Lyon (OFSEP), Fondation Eugène Devic EDMUS, Service de neurologie CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Adaptation, mesure et évaluation en santé. Approches interdisciplinaires (APEMAC), Université de Lorraine (UL), Service de Neurologie Rennes = Neurology Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Neuroimagerie: méthodes et applications (EMPENN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAL, IMAGE ET LANGAGE (IRISA-D6), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom Paris (IMT)-Institut Mines-Télécom Paris (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom Paris (IMT)-Institut Mines-Télécom Paris (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom Paris (IMT)-Institut Mines-Télécom Paris (IMT), Les Hôpitaux Universitaires de Strasbourg (HUS), CIC Strasbourg (Centre d’Investigation Clinique Plurithématique (CIC - P) ), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Nouvel Hôpital Civil de Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Hôpital de Hautepierre Strasbourg, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université Toulouse III - Paul Sabatier (UT3), 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), CHU Bordeaux, Neurocentre Magendie : Physiopathologie de la Plasticité Neuronale (U1215 Inserm - UB), Université de Bordeaux (UB)-Institut François Magendie-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Roger Salengro Lille, Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Service de neurologie Hôpital Fondation Adolphe de Rothschild, Hôpital Fondation Adolphe de Rothschild, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre Hospitalier Universitaire de Nice (CHU Nice), Unité de Recherche Clinique de la Côte d’Azur (URRIS UR2CA), Centre Hospitalier Universitaire de Nice (CHU Nice)-Université Côte d'Azur (UniCA), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Neurologie CHRU Besançon, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Saint-Antoine AP-HP, CHU Clermont-Ferrand, Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS Poissy, Hôpital de la Timone CHU - APHM (TIMONE), 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 Nimes (Pôle NIRR), Hôpital Universitaire Carémeau Nîmes (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)-Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), CHU Amiens-Picardie, CHU Rouen, Normandie Université (NU), Centre Hospitalier Universitaire CHU Grenoble (CHUGA), CHU de la Martinique Fort de France, 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), CHU Limoges, ANR-10-COHO-0002,OFSEP,Observatoire Français de la Sclérose en Plaques(2010)

المصدر: ISSN: 2168-6149.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصف: International audience ; Importance: Moderately effective therapies (METs) have been the main treatment in pediatric-onset multiple sclerosis (POMS) for years. Despite the expanding use of highly effective therapies (HETs), treatment strategies for POMS still lack consensus.Objective: To assess the real-world association of HET as an index treatment compared with MET with disease activity.Design, setting, and participants: This was a retrospective cohort study conducted from January 1, 2010, to December 8, 2022, until the last recorded visit. The median follow-up was 5.8 years. A total of 36 French MS centers participated in the Observatoire Français de la Sclérose en Plaques (OFSEP) cohort. Of the total participants in OFSEP, only treatment-naive children with relapsing-remitting POMS who received a first HET or MET before adulthood and at least 1 follow-up clinical visit were included in the study. All eligible participants were included in the study, and none declined to participate.Exposure: HET or MET at treatment initiation.Main outcomes and measures: The primary outcome was the time to first relapse after treatment. Secondary outcomes were annualized relapse rate (ARR), magnetic resonance imaging (MRI) activity, time to Expanded Disability Status Scale (EDSS) progression, tertiary education attainment, and treatment safety/tolerability. An adapted statistical method was used to model the logarithm of event rate by penalized splines of time, allowing adjustment for effects of covariates that is sensitive to nonlinearity and interactions.Results: Of the 3841 children (5.2% of 74 367 total participants in OFSEP), 530 patients (mean [SD] age, 16.0 [1.8] years; 364 female [68.7%]) were included in the study. In study patients, both treatment strategies were associated with a reduced risk of first relapse within the first 2 years. HET dampened disease activity with a 54% reduction in first relapse risk (adjusted hazard ratio [HR], 0.46; 95% CI, 0.31-0.67; P < .001) sustained over 5 years, confirmed on MRI ...

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38345791; hal-04458180; https://hal.science/hal-04458180Test; https://hal.science/hal-04458180/documentTest; https://hal.science/hal-04458180/file/jamaneurology_benallegue_2024_oi_230102_1707244155.42328.pdfTest; PUBMED: 38345791; PUBMEDCENTRAL: PMC10862269

الإتاحة: https://doi.org/10.1001/jamaneurol.2023.5566Test
https://hal.science/hal-04458180Test
https://hal.science/hal-04458180/documentTest
https://hal.science/hal-04458180/file/jamaneurology_benallegue_2024_oi_230102_1707244155.42328.pdfTest

المؤلفون: Jeantin, Lina, Januel, Edouard, Labauge, Pierre, Maillart, Elisabeth, de Seze, Jérôme, Zéphir, Hélène, Pelletier, Jean, Kerschen, Philippe, Biotti, Damien, Heinzlef, Olivier, Guilloton, Laurent, Bensa, Caroline, Théaudin, Marie, Vukusic, Sandra, Casez, Olivier, Maurousset, Aude, Laplaud, David, Berger, Eric, Lebrun-Frenay, Christine, Bourre, Bertrand, Branger, Pierre, Stankoff, Bruno, Clavelou, Pierre, Thouvenot, Eric, Manchon, Eric, Moreau, Thibault, Sellal, François, Zedet, Mickaël, Papeix, Caroline, Louapre, Céline

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique Neurosciences CHU Pitié Salpêtrière (CIC Neurosciences), 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), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université Toulouse III - Paul Sabatier (UT3), 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), Service de neurologie Hôpital Fondation Adolphe de Rothschild, Hôpital Fondation Adolphe de Rothschild, Université de Lausanne = University of Lausanne (UNIL), Hôpital neurologique et neurochirurgical Pierre Wertheimer CHU - HCL, Hospices Civils de Lyon (HCL), CHU Rouen, 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), CHU Saint-Antoine AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Clermont-Ferrand, Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Université de Strasbourg (UNISTRA), CHU Henri Mondor Créteil

المصدر: ISSN: 1352-4585.

مصطلحات موضوعية: Multiple Sclerosis, SARS-CoV-2, Vaccination, COVID-19, COVID-19 Vaccines, COVID-19 Testing, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصف: International audience ; Background: Epidemiologic studies on coronavirus disease 2019 (COVID-19) in patients with multiple sclerosis (pwMS) have focused on the first waves of the pandemic until early 2021. Objectives: We aimed to extend these data from the onset of the pandemic to the global coverage by vaccination in summer 2022. Methods: This retrospective, multicenter observational study analyzed COVISEP registry data on reported COVID-19 cases in pwMS between January 2020 and July 2022. Severe COVID-19 was defined as hospitalization or higher severity. Results: Among 2584 pwMS with confirmed/highly suspected COVID-19, severe infection rates declined from 14.6% preomicron wave to 5.7% during omicron wave ( p < 0.001). Multivariate analysis identified age (odds ratio (OR) = 1.43, 95% confidence interval (CI) = [1.25–1.64] per 10 years), male sex (OR = 2.01, 95% CI = [1.51–2.67]), obesity (OR = 2.36, 95% CI = [1.52–3.68]), cardiac comorbidities (OR = 2.36, 95% CI = [1.46–3.83]), higher Expanded Disability Status Scale (EDSS) scores (OR = 2.09, 95% CI = [1.43–3.06] for EDSS 3–5.5 and OR = 4.53, 95% CI = [3.04–6.75] for EDSS ⩾6), and anti-CD20 therapies (OR = 2.67, 95% CI = [1.85–3.87]) as risk factors for COVID-19 severity. Vaccinated individuals experienced less severe COVID-19, whether on (risk ratio (RR) = 0.64, 95% CI = [0.60–0.69]) or off (RR = 0.32, 95% CI = [0.30–0.33]) anti-CD20. Discussion: In pwMS, consistent risk factors were anti-CD20 therapies and neurological disability, emerging as vital drivers of COVID-19 severity regardless of wave, period, or vaccination status.

العلاقة: hal-04413759; https://hal.sorbonne-universite.fr/hal-04413759Test; https://hal.sorbonne-universite.fr/hal-04413759/documentTest; https://hal.sorbonne-universite.fr/hal-04413759/file/covisep_hal.pdfTest

الإتاحة: https://doi.org/10.1177/13524585231218149Test
https://hal.sorbonne-universite.fr/hal-04413759Test
https://hal.sorbonne-universite.fr/hal-04413759/documentTest
https://hal.sorbonne-universite.fr/hal-04413759/file/covisep_hal.pdfTest

المؤلفون: Tourbah, Ayman, Gout, Olivier, Vighetto, Alain, Deburghgraeve, Veronique, Pelletier, Jean, Papeix, Caroline, Lebrun-Frenay, Christine, Labauge, Pierre, Brassat, David, Toosy, Ahmed, Laplaud, David-Axel, Outteryck, Olivier, Moreau, Thibault, Debouverie, Marc, Clavelou, Pierre, Heinzlef, Olivier, De Seze, Jerome, Defer, Gilles, Sedel, Frederic, Arndt, Carl

المساهمون: Inserm, Université de Lille, CHU Lille, Lille Inflammation Research International Center (LIRIC) - U995, AP-HP. Université Paris Saclay, Fondation Ophtalmologique Adolphe de Rothschild Paris, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center CRNL, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Aix Marseille Université AMU, CHU Pitié-Salpêtrière AP-HP, Université Côte d'Azur UniCA, CHU Montpellier, Université de Toulouse UT, Centre de Recherche en Transplantation et Immunologie U1064 Inserm - CRTI, Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon), Service de neurologie CHRU Nancy, Service de Neurologie CHU Clermont-Ferrand, CHI Poissy-Saint-Germain, Service de Neurologie Strasbourg, Service de Neurologie CHU Caen, MedDay Pharmaceuticals, Université de Reims Champagne-Ardenne URCA

الوصف: BACKGROUND: Chronic visual loss is a disabling feature in patients with multiple sclerosis (MS). It was recently shown that MD1003 (high-dose pharmaceutical-grade biotin or hdPB) may improve disability in patients with progressive MS. OBJECTIVE: The aim of this study was to evaluate whether MD1003 improves vision compared with placebo in MS patients with chronic visual loss. METHODS: The MS-ON was a 6-month, randomized, double-blind, placebo-controlled study with a 6-month open-label extension phase. Adult patients with MS-related chronic visual loss of at least one eye [visual acuity (VA) below 0.5 decimal chart] were randomized 2:1 to oral MD1003 300 mg/day or placebo. The selected eye had to show worsening of VA within the past 3 years following either acute optic neuritis (AON) or slowly progressive optic neuropathy (PON). The primary endpoint was the mean change from baseline to month 6 in VA measured in logarithm of the minimum angle of resolution (logMAR) at 100% contrast of the selected eye. Visually evoked potentials, visual field, retinal nerve fiber layer (RNFL) thickness, and health outcomes were also assessed. RESULTS: Ninety-three patients received MD1003 (n = 65) or placebo (n = 28). The study did not meet its primary endpoint, as the mean change in the primary endpoint was nonsignificantly larger (p = 0.66) with MD1003 (- 0.061 logMAR, + 3.1 letters) than with placebo (- 0.036 logMAR, + 1.8 letters). Pre-planned subgroup analyses showed that 100% contrast VA improved by a mean of + 2.8 letters (- 0.058 logMAR) with MD1003 and worsened by - 1.5 letters (+ 0.029 logMAR) with placebo (p = 0.45) in the subgroup of patients with PON. MD1003-treated patients also had nonsignificant improvement in logMAR at 5% contrast and in RNFL thickness and health outcome scores when compared with placebo-treated patients. There was no superiority of MD1003 vs placebo in patients with AON. The safety profile of MD1003 was similar to that of placebo. CONCLUSIONS: MD1003 did not significantly improve VA compared with ...

وصف الملف: application/octet-stream

العلاقة: CNS Drugs; http://hdl.handle.net/20.500.12210/4521Test

الإتاحة: https://doi.org/20.500.12210/4521Test
https://hdl.handle.net/20.500.12210/4521Test

المؤلفون: Brocard, Guillaume, Casey, Romain, Dufay, Nathalie, Marignier, Romain, Michel, Laure, Hisbergues, Michael, Ayrignac, Xavier, Lehmann, Sylvain, Thouvenot, Eric, Gallot, Geraldine, Collongues, Nicolas, Herpe, Yves-Edouard, Lebrun-Frenay, Christine, Cotton, François, de Sèze, Jérôme, Guillemin, Francis, Moreau, Thibault, Pelletier, Jean, Stankoff, Bruno, Vukusic, Sandra, Zephir, Hélène, Laplaud, David

المساهمون: Hospices Civils de Lyon (HCL), Research on Healthcare Performance (RESHAPE - Inserm U1290 - UCBL1), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d'Investigation Clinique Rennes (CIC), Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Centre d'Investigation Clinique - Innovation Technologique de Lille - CIC 1403 - CIC 9301 (CIC Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Biopathologie de la Myéline, Neuroprotection et Stratégies Thérapeutiques (BMNST), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Amiens-Picardie, CHU Nice Cimiez, Hôpital Cimiez Nice (CHU), Institut de Recherche sur les CERamiques (IRCER), Institut des Procédés Appliqués aux Matériaux (IPAM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS), Hôpital de Hautepierre Strasbourg, Centre d'investigation clinique Nancy (CIC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Hôpital de la Timone CHU - APHM (TIMONE), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lille Neurosciences & Cognition - U 1172 (LilNCog), Centre d'investigation clinique (CIC) de Nantes -CIC Plurithématique (CIC 0004 - Nantes), Direction Générale de l'Organisation des Soins (DGOS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology (U1064 Inserm - CR2TI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Data and samples collection has been supported by a grant provided by the French State and handled by the "Agence Nationale de la Recherche," within the framework of the "France 2030" programme, under the reference ANR-10-COHO-002, by the Eugène Devic EDMUS Foundation against multiple sclerosis and by the ARSEP Foundation., ANR-10-COHO-0002,OFSEP,Observatoire Français de la Sclérose en Plaques(2010)

المصدر: ISSN: 2211-0356.

مصطلحات موضوعية: Biobank, Database, Multiple sclerosis, Quality, Registry, Sample, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصف: International audience ; Today's medicine strives to be personalized, preventive, predictive and participatory. This implies to have access to multimodal data to better characterize patients groups and to combine clinical and imaging data with high-quality biological samples. Collecting such data is one of the objectives of the Observatoire français de la sclérose en plaques (OFSEP), the French MS registry. On December 2022, the OFSEP biocollection includes 4,888 patients with scientific characteristics and about 90,000 samples. Thanks to its richness, this biocollection open for the scientific community, contributes to address unmet needs in MS through identification of multiomics determinants of MS activity, progression and secondary effects.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37453261; hal-04192336; https://univ-rennes.hal.science/hal-04192336Test; https://univ-rennes.hal.science/hal-04192336/documentTest; https://univ-rennes.hal.science/hal-04192336/file/Brocard%20et%20al.%20-%202023%20-%20The%20biological%20sample%20collection%20of%20the%20OFSEP%20Fren.pdfTest; PUBMED: 37453261

الإتاحة: https://doi.org/10.1016/j.msard.2023.104872Test
https://univ-rennes.hal.science/hal-04192336Test
https://univ-rennes.hal.science/hal-04192336/documentTest
https://univ-rennes.hal.science/hal-04192336/file/Brocard%20et%20al.%20-%202023%20-%20The%20biological%20sample%20collection%20of%20the%20OFSEP%20Fren.pdfTest

المؤلفون: Wilson, Sarah, Calocer, Floriane, Rollot, Fabien, Fauvernier, Mathieu, Remontet, Laurent, Tron, Laure, Vukusic, Sandra, Le Page, Emmanuelle, Debouverie, Marc, Ciron, Jonathan, Ruet, Aurélie, de Sèze, Jérôme, Zephir, Hélène, Moreau, Thibault, Lebrun-Frénay, Christine, Laplaud, David-Axel, Clavelou, Pierre, Labauge, Pierre, Berger, Eric, Pelletier, Jean, Heinzlef, Olivier, Thouvenot, Eric, Camdessanché, Jean, Philippe, Leray, Emmanuelle, Dejardin, Olivier, Defer, Gilles

المساهمون: Université de Caen Normandie (UNICAEN), Normandie Université (NU), Unité de recherche interdisciplinaire pour la prévention et le traitement des cancers (ANTICIPE), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN)-Centre Régional de Lutte contre le Cancer François Baclesse Caen (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-UNICANCER-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Neurologie CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital neurologique et neurochirurgical Pierre Wertheimer CHU - HCL, Hospices Civils de Lyon (HCL), Fondation Eugène Devic EDMUS, Observatoire Français de la Sclérose En Plaques Lyon (OFSEP), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Service de Biostatistiques Lyon, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Centre d'Investigation Clinique Rennes (CIC), Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -Institut National de la Santé et de la Recherche Médicale (INSERM), Adaptation, mesure et évaluation en santé. Approches interdisciplinaires (APEMAC), Université de Lorraine (UL), Service de neurologie CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université Toulouse III - Paul Sabatier (UT3), 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), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Bordeaux (UB), Neurocentre Magendie : Physiopathologie de la Plasticité Neuronale (U1215 Inserm - UB), Université de Bordeaux (UB)-Institut François Magendie-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux, CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), CIC Strasbourg (Centre d’Investigation Clinique Plurithématique (CIC - P) ), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Nouvel Hôpital Civil de Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Hôpital de Hautepierre Strasbourg, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre de Ressources et de Compétences sur la Sclérose en Plaques (CRC-SEP) Lille (CRC-SEP Nord-Pas de Calais), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre d'épidémiologie des populations (CEP), Université de Bourgogne (UB)-Centre Régional de Lutte contre le cancer Georges-François Leclerc Dijon (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Unité de Recherche Clinique de la Côte d’Azur (URRIS UR2CA), Centre Hospitalier Universitaire de Nice (CHU Nice)-Université Côte d'Azur (UniCA), Hôpital Pasteur Nice (CHU), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology (U1064 Inserm - CR2TI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Centre d’Investigation Clinique de Nantes (CIC Nantes), Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Université de Clermont-Ferrand, Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Service de Neurologie CHU Clermont-Ferrand, CHU Gabriel Montpied Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand, CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Université de Montpellier (UM), Service de Neurologie CHRU Besançon, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Hôpital de la Timone CHU - APHM (TIMONE), CHI Poissy-Saint-Germain, Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), 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), École des Hautes Études en Santé Publique EHESP (EHESP), Recherche sur les services et le management en santé (RSMS), Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Arènes: politique, santé publique, environnement, médias (ARENES), Université de Rennes (UR)-Institut d'Études Politiques IEP - Rennes-École des Hautes Études en Santé Publique EHESP (EHESP)-Université de Rennes 2 (UR2)-Centre National de la Recherche Scientifique (CNRS), Département Méthodes quantitatives en santé publique (METIS)

المصدر: ISSN: 2666-7762 ; The Lancet Regional Health - Europe ; https://ehesp.hal.science/hal-03875120Test ; The Lancet Regional Health - Europe, 2023, 24, pp.100542. ⟨10.1016/j.lanepe.2022.100542⟩.

مصطلحات موضوعية: Multiple sclerosis, Excess mortality, Net survival, Socio-economic status, Flexible model, Observational cohort study, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

الوصف: International audience ; Background: The effects of socio-economic status on mortality in patients with multiple sclerosis is not well known. The objective was to examine mortality due to multiple sclerosis according to socio-economic status.Methods: A retrospective observational cohort design was used with recruitment from 18 French multiple sclerosis expert centers participating in the Observatoire Français de la Sclérose en Plaques. All patients lived in metropolitan France and had a definite or probable diagnosis of multiple sclerosis according to either Poser or McDonald criteria with an onset of disease between 1960 and 2015. Initial phenotype was either relapsing-onset or primary progressive onset. Vital status was updated on January 1st 2016. Socio-economic status was measured by an ecological index, the European Deprivation Index and was attributed to each patient according to their home address. Excess death rates were studied according to socio-economic status using additive excess hazard models with multidimensional penalised splines. The initial hypothesis was a potential socio-economic gradient in excess mortality.Findings: A total of 34,169 multiple sclerosis patients were included (88% relapsing onset (n = 30,083), 12% progressive onset (n = 4086)), female/male sex ratio 2.7 for relapsing-onset and 1.3 for progressive-onset). Mean age at disease onset was 31.6 (SD = 9.8) for relapsing-onset and 42.7 (SD = 10.8) for progressive-onset. At the end of follow-up, 1849 patients had died (4.4% for relapsing-onset (n = 1311) and 13.2% for progressive-onset (n = 538)). A socio-economic gradient was found for relapsing-onset patients; more deprived patients had a greater excess death rate. At thirty years of disease duration and a year of onset of symptoms of 1980, survival probability difference (or deprivation gap) between less deprived relapsing-onset patients (EDI = -6) and more deprived relapsing-onset patients (EDI = 12) was 16.6% (95% confidence interval (CI) [10.3%-22.9%]) for men and 12.3% (95%CI ...

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36426377; hal-03875120; https://ehesp.hal.science/hal-03875120Test; https://ehesp.hal.science/hal-03875120/documentTest; https://ehesp.hal.science/hal-03875120/file/LANCET.pdfTest; PUBMED: 36426377; PUBMEDCENTRAL: PMC9678948

الإتاحة: https://doi.org/10.1016/j.lanepe.2022.100542Test
https://ehesp.hal.science/hal-03875120Test
https://ehesp.hal.science/hal-03875120/documentTest
https://ehesp.hal.science/hal-03875120/file/LANCET.pdfTest

المؤلفون: Gavoille, Antoine, Rollot, Fabien, Casey, Romain, Debouverie, Marc, Le Page, Emmanuelle, Ciron, Jonathan, de Seze, Jerome, Ruet, Aurélie, Maillart, Elisabeth, Labauge, Pierre, Zephir, Helene, Papeix, Caroline, Defer, Gilles, Lebrun-Frenay, Christine, Moreau, Thibault, Laplaud, David Axel, Berger, Eric, Stankoff, Bruno, Clavelou, Pierre, Thouvenot, Eric, Heinzlef, Olivier, Pelletier, Jean, Al Khedr, Abdullatif, Casez, Olivier, Bourre, Bertrand, Cabre, Philippe, Wahab, Abir, Magy, Laurent, Camdessanche, Jean-Philippe, Maurousset, Aude, Moulin, Solène, Ben, Nasr Haifa, Boulos, Dalia Dimitri, Hankiewicz, Karolina, Neau, Jean-Philippe, Pottier, Corinne, Nifle, Chantal, Rabilloud, Muriel, Subtil, Fabien, Vukusic, Sandra

المساهمون: 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), Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Centre d'Investigation Clinique Rennes (CIC), Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Neurocentre Magendie : Physiopathologie de la Plasticité Neuronale (U1215 Inserm - UB), Université de Bordeaux (UB)-Institut François Magendie-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Université de Montpellier (UM), Laboratoire d'Immunologie (EA 2686), Université de Lille, Droit et Santé, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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 générale, vasculaire et dégénérative (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CIC Plurithématique de Nantes, Institut National de la Santé et de la Recherche Médicale (INSERM)-Ministère des Affaires sociales et de la Santé-Direction générale de l'offre de soins (DGOS)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology (U1064 Inserm - CR2TI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Barcelona Supercomputing Center - Centro Nacional de Supercomputacion (BSC-CNS), CHU Saint-Antoine AP-HP, 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), Hôpital Universitaire Carémeau Nîmes (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), CHI Poissy-Saint-Germain, Département biostatistiques et modélisation pour la santé et l'environnement LBBE, 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)-Université Claude Bernard Lyon 1 (UCBL), Acknowledgements: This study was conducted using data from the OFSEP, which is supported by a grant providedby the French State and handled by the Agence Nationale de la Recherche, within the framework of the Investmentsfor the Future program, under the reference ANR-10-COHO-002, by the Eugène Devic EDMUS Foundation againstmultiple sclerosis and by the ARSEP Foundation. We thank Hélène Boyer (Direction de la Recherche en Santé,Hospices Civils de Lyon) for her help in manuscript preparation., ANR-10-COHO-0002,OFSEP,Observatoire Français de la Sclérose en Plaques(2010)

المصدر: ISSN: 0028-3878.

مصطلحات موضوعية: All CBMRT/Null Hypothesis, Multiple sclerosis, Cohort studies, MESH: Disabled Persons, MESH: Disease Progression, MESH: Humans, MESH: Pregnancy, MESH: Multiple Sclerosis, MESH: Female, MESH: Cohort Studies, MESH: Probability, MESH: Recurrence, Relapsing-Remitting, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

الوصف: International audience ; Background and objectives - The question of the long-term safety of pregnancy is a major concern in patients with multiple sclerosis (MS), but its study is biased by reverse causation (women with higher disability are less likely to experience pregnancy). Using a causal inference approach, we aimed to estimate the unbiased long-term effects of pregnancy on disability and relapse risk in patients with MS and secondarily the short-term effects (during the perpartum and postpartum years) and delayed effects (occurring beyond 1 year after delivery). Methods - We conducted an observational cohort study with data from patients with MS followed in the Observatoire Français de la Sclérose en Plaques registry between 1990 and 2020. We included female patients with MS aged 18-45 years at MS onset, clinically followed up for more than 2 years, and with ≥3 Expanded Disease Status Scale (EDSS) measurements. Outcomes were the mean EDSS score at the end of follow-up and the annual probability of relapse during follow-up. Counterfactual outcomes were predicted using the longitudinal targeted maximum likelihood estimator in the entire study population. The patients exposed to at least 1 pregnancy during their follow-up were compared with the counterfactual situation in which, contrary to what was observed, they would not have been exposed to any pregnancy. Short-term and delayed effects were analyzed from the first pregnancy of early-exposed patients (who experienced it during their first 3 years of follow-up). Results - We included 9,100 patients, with a median follow-up duration of 7.8 years, of whom 2,125 (23.4%) patients were exposed to at least 1 pregnancy. Pregnancy had no significant long-term causal effect on the mean EDSS score at 9 years (causal mean difference [95% CI] = 0.00 [-0.16 to 0.15]) or on the annual probability of relapse (causal risk ratio [95% CI] = 0.95 [0.93-1.38]). For the 1,253 early-exposed patients, pregnancy significantly decreased the probability of relapse during the ...

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36564207; hal-03963580; https://amu.hal.science/hal-03963580Test; https://amu.hal.science/hal-03963580/documentTest; https://amu.hal.science/hal-03963580/file/Gavoille%20%20et%20al%20-2023-Contribution%20of%20causal%20inference%20to%20the%20analysis%20of%20the%20long-term%20effect%20of.pdfTest; PUBMED: 36564207; PUBMEDCENTRAL: PMC10033171

الإتاحة: https://doi.org/10.1212/WNL.0000000000206774Test
https://amu.hal.science/hal-03963580Test
https://amu.hal.science/hal-03963580/documentTest
https://amu.hal.science/hal-03963580/file/Gavoille%20%20et%20al%20-2023-Contribution%20of%20causal%20inference%20to%20the%20analysis%20of%20the%20long-term%20effect%20of.pdfTest

المؤلفون: Massey, Sean, Guo, Yiran, Riley, Lisa G., Van Bergen, Nicole J., Sandaradura, Sarah A., McCusker, Elizabeth, Tchan, Michel, Thauvin-Robinet, Christel, Thomas, Quentin, Moreau, Thibault, Davis, Mark, Smits, Daphne, Mancini, Grazia M.S., Hakonarson, Hakon, Cooper, Sandra, Christodoulou, John

المصدر: Massey , S , Guo , Y , Riley , L G , Van Bergen , N J , Sandaradura , S A , McCusker , E , Tchan , M , Thauvin-Robinet , C , Thomas , Q , Moreau , T , Davis , M , Smits , D , Mancini , G M S , Hakonarson , H , Cooper , S & Christodoulou , J 2023 , ' Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia ' , Neurology: Genetics , vol. 9 , no. 1 , e200051 . https://doi.org/10.1212/NXG.0000000000200051Test

الوصف: Background and Objectives The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in the ANO10 gene. Little is known about the molecular role of ANO10 or its role in disease. There is a wide phenotypic spectrum among patients, even among those with the same or similar genetic variants. This study aimed to characterize the molecular consequences of variants in ANO10 and determine their pathologic significance in patients diagnosed with SCAR10. Methods We presented 4 patients from 4 families diagnosed with spinocerebellar ataxia with potential pathogenic variants in the ANO10 gene. Patients underwent either clinical whole-exome sequencing or screening of a panel of known neuromuscular disease genes. Effects on splicing were studied using reverse transcriptase PCR to analyze complementary DNA. Western blots were used to examine protein expression. Results One individual who presented clinically at a much earlier age than typical was homozygous for an ANO10 variant (c.1864A > G [p.Met622Val]) that produces 2 transcription products by altering an exonic enhancer site. Two patients, both of Lebanese descent, had a homozygous intronic splicing variant in ANO10 (c.1163-9A > G) that introduced a cryptic splice site acceptor, producing 2 alternative transcription products and no detectable wild-type protein. Both these variants have not yet been associated with SCAR10. The remaining patient was found to have compound heterozygous variants in ANO10 previously associated with SCAR10 (c.132dupA [p.Asp45Argfs*9] and c.1537T > C [p.Cys513Arg]). Discussion We presented rare pathogenic variants adding to the growing list of ANO10 variants associated with SCAR10. In addition, we described an individual with a much earlier age at onset than usually associated with ANO10 variants. This expands the phenotypic and ...

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/75fb823a-e3c2-4b67-96d4-a58ed6266d8aTest

الإتاحة: https://doi.org/10.1212/NXG.0000000000200051Test
https://pure.eur.nl/en/publications/75fb823a-e3c2-4b67-96d4-a58ed6266d8aTest
https://pure.eur.nl/ws/files/87006270/e200051.full.pdfTest
http://www.scopus.com/inward/record.url?scp=85148890503&partnerID=8YFLogxKTest

المؤلفون: Januel, Edouard, Hajage, David, Labauge, Pierre, Maillart, Elisabeth, de Sèze, Jérome, Zephir, Hélène, Pelletier, Jean, Guilloton, Laurent, Bensa, Caroline, Heinzlef, Olivier, Casez, Olivier, Biotti, Damien, Bourre, Bertrand, Vukusic, Sandra, Maurousset, Aude, Berger, Eric, Laplaud, David, Lebrun-Frénay, Christine, Dubessy, Anne-Laure, Branger, Pierre, Thouvenot, Eric, Clavelou, Pierre, Sellal, François, Manchon, Eric, Moreau, Thibault, Papeix, Caroline, Tubach, Florence, Louapre, Céline

المساهمون: Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), 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), Hôpital Fondation Adolphe de Rothschild, CHU Saint-Antoine AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: EISSN: 2574-3805 ; JAMA Network Open ; https://hal.science/hal-04506167Test ; JAMA Network Open, 2023, 6 (6), pp.e2319766. ⟨10.1001/jamanetworkopen.2023.19766⟩

مصطلحات موضوعية: MESH: Humans, MESH: Female, MESH: Adult, MESH: Middle Aged, MESH: Male, MESH: Multiple Sclerosis, MESH: Cohort Studies, MESH: Retrospective Studies, MESH: COVID-19 Vaccines, MESH: COVID-19, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصف: International audience ; Importance In patients with multiple sclerosis (MS), factors associated with severe COVID-19 include anti-CD20 therapies and neurologic disability, but it is still unclear whether these 2 variables are independently associated with severe COVID-19 or whether the association depends on MS clinical course. Objective To assess the association between anti-CD20 therapies and COVID-19 severity in patients with relapsing-remitting MS (RRMS) and progressive MS (PMS). Design, Setting, and Participants This multicenter, retrospective cohort study used data from the COVISEP study, which included patients with MS and COVID-19 from February 1, 2020, to June 30, 2022, at 46 French MS expert centers, general hospitals, and private neurology practices. Eligible patients with RRMS were those treated with high-efficacy MS therapy (ie, anti-CD20, fingolimod, or natalizumab), and eligible patients with PMS were those younger than 70 years with an Expanded Disability Status Scale (EDSS) score of 8 or lower. Patients were monitored from COVID-19 symptom onset until recovery or death. Exposures Current anti-CD20 therapy (ocrelizumab or rituximab). Main Outcomes and Measures The main outcome was severe COVID-19 (ie, hospitalization with any mode of oxygenation or death). All analyses were conducted separately in patients with RRMS and PMS using propensity score–weighted logistic regression. Subgroup analyses were performed according to COVID-19 vaccine status, sex, EDSS score, and age. Results A total of 1400 patients, 971 with RRMS (median age, 39.14 years [IQR, 31.38-46.80 years]; 737 [76.1%] female) and 429 with PMS (median age, 54.21 years [IQR, 48.42-60.14 years]; 250 [58.3%] female) were included in the study. A total of 418 patients with RRMS (43.0%) and 226 with PMS (52.7%) were treated with anti-CD20 therapies. In weighted analysis, 13.4% and 2.9% of patients with RRMS treated and not treated with anti-CD20 had severe COVID-19, respectively, and anti-CD20 treatment was associated with increased risk ...

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37351881; hal-04506167; https://hal.science/hal-04506167Test; https://hal.science/hal-04506167/documentTest; https://hal.science/hal-04506167/file/januel_2023_oi_230597_1686863260.32171.pdfTest; PUBMED: 37351881; PUBMEDCENTRAL: PMC10290250

الإتاحة: https://doi.org/10.1001/jamanetworkopen.2023.19766Test
https://hal.science/hal-04506167Test
https://hal.science/hal-04506167/documentTest
https://hal.science/hal-04506167/file/januel_2023_oi_230597_1686863260.32171.pdfTest

المؤلفون: SABATHÉ, Camille, CASEY, Romain, VUKUSIC, Sandra, LERAY, Emmanuelle, MATHEY, Guillaume, DE SÈZE, Jérôme, CIRON, Jonathan, WIERTLEWSKI, Sandrine, RUET, Aurélie, PELLETIER, Jean, ZÉPHIR, Hélène, MICHEL, Laure, LEBRUN-FRENAY, Christine, MOISSET, Xavier, THOUVENOT, Eric, CAMDESSANCHÉ, Jean-Philippe, BAKCHINE, Serge, STANKOFF, Bruno, AL KHEDR, Abdullatif, CABRE, Philippe, MAILLART, Elisabeth, BERGER, Eric, HEINZLEF, Olivier, HANKIEWICZ, Karolina, MOREAU, Thibault, GOUT, Olivier, BOURRE, Bertrand, WAHAB, Abir, LABAUGE, Pierre, MONTCUQUET, Alexis, DEFER, Gilles, MAUROUSSET, Aude, MAUBEUGE, Nicolas, DIMITRI BOULOS, Dalia, BEN NASR, Haïfa, NIFLE, Chantal, CASEZ, Olivier, LAPLAUD, David-Axel, FOUCHER, Yohann

مصطلحات موضوعية: Epidemiology, Second-line treatment, Treatment response, Multiple Sclerosis, Sciences du Vivant [q-bio]/Neurosciences [q-bio.NC]

الوصف: In relapsing-remitting multiple sclerosis (RRMS), early identification of suboptimal responders can prevent disability progression. We aimed to develop and validate a dynamic score to guide the early decision to switch from first- to second-line therapy. Using time-dependent propensity scores (PS) from a French cohort of 12,823 patients with RRMS, we constructed one training and two validation PS-matched cohorts to compare the switched patients to second-line treatment and the maintained patients. We used a frailty Cox model for predicting individual hazard ratios (iHRs). From the validation PS-matched cohort of 348 independent patients with iHR ⩽ 0.69, we reported the 5-year relapse-free survival at 0.14 (95% confidence interval (CI) 0.09-0.22) for the waiting group and 0.40 (95% CI 0.32-0.51) for the switched group. From the validation PS-matched cohort of 518 independent patients with iHR > 0.69, these values were 0.37 (95% CI 0.30-0.46) and 0.44 (95% CI 0.37-0.52), respectively. By using the proposed dynamic score, we estimated that at least one-third of patients could benefit from an earlier switch to prevent relapse.

العلاقة: https://oskar-bordeaux.fr/handle/20.500.12278/186942Test

الإتاحة: https://doi.org/20.500.12278/186942Test
https://doi.org/10.1177/13524585221139156Test
https://oskar-bordeaux.fr/handle/20.500.12278/186942Test
https://hdl.handle.net/20.500.12278/186942Test