23 results on '"Pigneur, Bénédicte"'
Search Results
2. Benign Evolution of SARS-Cov2 Infections in Children With Inflammatory Bowel Disease: Results From Two International Databases
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Brenner, Erica J., Pigneur, Bénédicte, Focht, Gili, Zhang, Xian, Ungaro, Ryan C., Colombel, Jean-Frederic, Turner, Dan, Kappelman, Michael D., and Ruemmele, Frank M.
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- 2021
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3. Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations
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Passone, Caroline de Gouveia Buff, primary, Vermillac, Gaëlle, additional, Staels, Willem, additional, Besancon, Alix, additional, Kariyawasam, Dulanjalee, additional, Godot, Cécile, additional, Lambe, Cécile, additional, Talbotec, Cécile, additional, Girard, Muriel, additional, Chardot, Christophe, additional, Berteloot, Laureline, additional, Hachem, Taymme, additional, Lapillonne, Alexandre, additional, Poidvin, Amélie, additional, Storey, Caroline, additional, Neve, Mathieu, additional, Stan, Cosmina, additional, Dugelay, Emmanuelle, additional, Fauret-Amsellem, Anne-Laure, additional, Capri, Yline, additional, Cavé, Hélène, additional, Ybarra, Marina, additional, Chandra, Vikash, additional, Scharfmann, Raphaël, additional, Bismuth, Elise, additional, Polak, Michel, additional, Carel, Jean Claude, additional, Pigneur, Bénédicte, additional, and Beltrand, Jacques, additional
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- 2022
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4. Faecalibacterium prausnitzii Is an Anti-Inflammatory Commensal Bacterium Identified by Gut Microbiota Analysis of Crohn Disease Patient
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Sokol, Harry, Pigneur, Bénédicte, Watterlot, Laurie, Lakhdari, Omar, Bermúdez-Humarán, Luis G., Gratadoux, Jean-Jacques, Blugeon, Sébastien, Bridonneau, Chantal, Furet, Jean-Pierre, Corthier, Gérard, Grangette, Corinne, Vasquez, Nadia, Pochart, Philippe, Trugnan, Germain, Thomas, Ginette, Blottière, Hervé M., Doré, Joël, Marteau, Philippe, Seksik, Philippe, and Langella, Philippe
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- 2008
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5. Outcome of home parenteral nutrition in 251 children over a 14-y period: report of a single center1
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Abi Nader, Elie, Lambe, Cécile, Talbotec, Cécile, Pigneur, Bénédicte, Lacaille, Florence, Garnier-Lengliné, Hélène, Petit, Laetitia-Marie, Poisson, Catherine, Rocha, Amélia, Corriol, Odile, Aigrain, Yves, Chardot, Christophe, Ruemmele, Frank M, Colomb-Jung, Virginie, and Goulet, Olivier
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- 2016
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6. IgA vasculitis in patients with inflammatory bowel disease: new insights into the role of TNF-α blockers
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Rasmussen, Camille, primary, Abitbol, Vered, additional, El Karoui, Khalil, additional, Bourrier, Anne, additional, Paule, Romain, additional, Vuitton, Lucine, additional, Maurier, François, additional, Laharie, David, additional, Fuméry, Mathurin, additional, Agard, Christian, additional, Collins, Michael, additional, Nancey, Stephane, additional, Rafat, Cédric, additional, Kervegant, Anne-Gaëlle, additional, Queyrel-Moranne, Viviane, additional, Moulis, Guillaume, additional, Pigneur, Bénédicte, additional, Régent, Alexis, additional, Gay, Claire, additional, Morbieu, Caroline, additional, Durel, Cécile Audrey, additional, Ducloux, Didier, additional, Aubin, François, additional, Voicu, Mickaela, additional, Joher, Nizar, additional, Szwebel, Tali, additional, Martinez-Vinson, Christine, additional, Koch, Stéphane, additional, Guillevin, Loïc, additional, Peyrin-Biroulet, Laurent, additional, and Terrier, Benjamin, additional
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- 2021
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7. Prior infection by seasonal coronaviruses, as assessed by serology, does not prevent SARS-CoV-2 infection and disease in children, France, April to June 2020
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Sermet-Gaudelus, Isabelle, primary, Temmam, Sarah, additional, Huon, Christèle, additional, Behillil, Sylvie, additional, Gajdos, Vincent, additional, Bigot, Thomas, additional, Lurier, Thibaut, additional, Chrétien, Delphine, additional, Backovic, Marija, additional, Delaunay-Moisan, Agnès, additional, Donati, Flora, additional, Albert, Mélanie, additional, Foucaud, Elsa, additional, Mesplées, Bettina, additional, Benoist, Grégoire, additional, Faye, Albert, additional, Duval-Arnould, Marc, additional, Cretolle, Célia, additional, Charbit, Marina, additional, Aubart, Mélodie, additional, Auriau, Johanne, additional, Lorrot, Mathie, additional, Kariyawasam, Dulanjalee, additional, Fertitta, Laura, additional, Orliaguet, Gilles, additional, Pigneur, Bénédicte, additional, Bader-Meunier, Brigitte, additional, Briand, Coralie, additional, Enouf, Vincent, additional, Toubiana, Julie, additional, Guilleminot, Tiffany, additional, van der Werf, Sylvie, additional, Leruez-Ville, Marianne, additional, and Eloit, Marc, additional
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- 2021
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8. IgA vasculitis in patients with inflammatory bowel disease: new insights into the role of TNF-α blockers.
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Rasmussen, Camille, Abitbol, Vered, Karoui, Khalil El, Bourrier, Anne, Paule, Romain, Vuitton, Lucine, Maurier, François, Laharie, David, Fuméry, Mathurin, Agard, Christian, Collins, Michael, Nancey, Stephane, Rafat, Cédric, Kervegant, Anne-Gaëlle, Queyrel-Moranne, Viviane, Moulis, Guillaume, Pigneur, Bénédicte, Régent, Alexis, Gay, Claire, and Morbieu, Caroline
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IMMUNOGLOBULINS ,INFLAMMATORY bowel diseases ,ANTI-inflammatory agents ,RETROSPECTIVE studies ,RISK assessment ,DESCRIPTIVE statistics ,VASCULITIS ,PHARMACODYNAMICS ,DISEASE risk factors - Abstract
Objective The association of IgA vasculitis (IgAV) and IBD is rarely described, mainly during anti-TNF-α therapy. We aimed to describe the association of IgAV and IBD. Methods We retrospectively analysed the association of IgAV and IBD through the implication of the GETAID and FVSG networks. Characteristics of IBD and IgAV were collected using a standardized case report form. Results Forty-three cases were included. IBD [mainly Crohn's disease (CD) in 58%] preceded IgAV in 38 (88%), with median interval of 9.2 (IQR 5.4–15.4) years. In these 38 patients, at IgAV diagnosis, five (13%) had active IBD and 28 (74%) were treated with anti-TNF-α for a median duration of 31.5 (IQR 19–56) months. Main IgAV manifestations were purpura all patients (100%), joints in 20/35 (57%), renal in 15/35 (43%) and gastrointestinal in 11/35 (31%) involvement. IgAV was treated with glucocorticoids in 25 (66%), colchicine in six (16%), CYC in six (16%) and anti-TNF-α were discontinued in 15/28 (54%). No IgAV relapse occurred when TNF-α blockers were stopped, vs 23% in patients pursuing it. Conversely, five (33%) had IBD flare or complication after anti-TNF-α cessation vs one (8%) in those continuing biologics. Anti-TNF-α were resumed in six (40%), with subsequent IgAV relapse in four (67%). Conclusions This large cohort suggests that TNF-α blockers may promote the onset of IgAV in IBD. Discontinuation of anti-TNF-α was associated with vasculitis remission but increased risk of IBD relapses, whereas continuation of anti-TNF-α was associated with IBD remission but vasculitis relapse. [ABSTRACT FROM AUTHOR]
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- 2022
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9. Urgent endoscopy in children: epidemiology in a large region of France
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Norsa, Lorenzo, additional, Ferrari, Alberto, additional, Mosca, Alexis, additional, Talbotec, Cecile, additional, Campeotto, Florence, additional, Lemale, Julie, additional, Pigneur, Bénédicte, additional, and Viala, Jerome, additional
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- 2020
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10. Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort
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Wicker, Camille, primary, Roda, Célina, additional, Perry, Ariane, additional, Arnoux, Jean Baptiste, additional, Brassier, Anais, additional, Castelle, Martin, additional, Servais, Aude, additional, Donadieu, Jean, additional, Bouchereau, Juliette, additional, Pigneur, Bénédicte, additional, Labrune, Philippe, additional, Ruemmele, Frank M., additional, and de Lonlay, Pascale, additional
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- 2020
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11. Diagnostic yield of next-generation sequencing in very early-onset inflammatory bowel diseases: A multicentre study
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Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Remi, Nowak, Jan, Bègue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Amil Dias, Jorge, Ben Hariz, Mongi, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronski, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Egritas Gurkan, Odul, Fabre, Alexandre, Fischer, Aude, German Diaz, Marta, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pinto Pais, Isabel, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank, Cerf-Bensussan, Nadine, Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronski, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egrita, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Jano, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Ander, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidota, Willot, Stéphanie, Ruemmele, Frank M., Cerf-Bensussan, Nadine, Laboratory of Intestinal Immunity (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), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), The Clinical Bioinformatics laboratory (Equipe Inserm U1163), Immunité et cancer (U932), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Immunogenetics of pediatric autoimmune diseases (Equipe Inserm U1163), Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), GENIUS Group, Service de Gastroentérologie et nutrition [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Pédiatrie, Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Hospital Universitario Puerta de Hierro-Majadahonda [Madrid, Spain], Gastroentérologie-Hépatologie et Nutrition Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Hospital de São João [Porto], Service de gastroenterologie [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 de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Le Mans (CH Le Mans), University of Messina, Department of Pediatrics, Centre Hospitalier Universitaire Mongi Slim [La Marsa], CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Gastroentérologie, d'hépatologie et nutrition pédiatrique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Saint-Antoine [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], 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), Institut National de la Recherche Agronomique (INRA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), CHU Le MAns, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Curie-Université Paris Descartes - Paris 5 (UPD5), 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), and Institut Curie-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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Male ,paediatric ,VEO-IBD ,Adolescent ,monogenic disorder ,Gastroenterology ,High-Throughput Nucleotide Sequencing ,Infant ,Genetics and molecular epidemiology ,Inflammatory Bowel Diseases ,monogenic disorders ,Corrigenda ,Cohort Studies ,paediatrics ,Predictive Value of Tests ,Child, Preschool ,TNGS ,Humans ,[SDV.IMM]Life Sciences [q-bio]/Immunology ,Female ,Age of Onset ,Child ,Genetics and molecular epidemiology, monogenic disorders, paediatrics, TNGS, VEO-IBD, Gastroenterology ,AcademicSubjects/MED00260 - Abstract
Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: Predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.
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- 2018
12. Nutritional interventions for the treatment of IBD: current evidence and controversies
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Pigneur, Bénédicte, primary and Ruemmele, Frank M., additional
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- 2019
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13. Short Bowel Syndrome as the Leading Cause of Intestinal Failure in Early Life: Some Insights into the Management
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Goulet, Olivier, primary, Abi Nader, Elie, additional, Pigneur, Bénédicte, additional, and Lambe, Cécile, additional
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- 2019
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14. Differences in epidemiological features between ulcerative colitis and Crohn's disease:The early life-programmed versus late dysbiosis hypothesis
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Beaugerie, Laurent, Langholz, Ebbe, Nyboe-Andersen, Nynne, Pigneur, Bénédicte, Sokol, Harry, Beaugerie, Laurent, Langholz, Ebbe, Nyboe-Andersen, Nynne, Pigneur, Bénédicte, and Sokol, Harry
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It is increasingly admitted that Crohn's disease and ulcerative colitis, the two entities of inflammatory bowel disease, are initiated and reactivated by environmental factors in genetically susceptible hosts, and result from aberrant immune response to specific intestinal microbes, in the context of altered composition of intestinal microbiota, called dysbiosis. We hypothesize that the role of the gut microbiota in Crohn's disease pathogenesis is linked to early-life abnormal crosstalk with the host immune system under construction. By contrast, in ulcerative colitis, the detrimental effect of intestinal dysbiosis could occur at any time of life, due to instant environment. This hypothesis could explain why the incidence of Crohn's disease raises many years later than that of ulcerative colitis in developing countries that adopt the Western lifestyle. This would also explain why many early-life events, such as caesarean section, increased hygiene and repeated antibiotic exposure, are risk factors for subsequent development of Crohn's disease, but not ulcerative colitis.
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- 2018
15. Outcome of home parenteral nutrition in 251 children over a 14-y period: report of a single center
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Nader, Elie Abi, primary, Lambe, Cécile, additional, Talbotec, Cécile, additional, Pigneur, Bénédicte, additional, Lacaille, Florence, additional, Garnier-Lengliné, Hélène, additional, Petit, Laetitia-Marie, additional, Poisson, Catherine, additional, Rocha, Amélia, additional, Corriol, Odile, additional, Aigrain, Yves, additional, Chardot, Christophe, additional, Ruemmele, Frank M, additional, Colomb-Jung, Virginie, additional, and Goulet, Olivier, additional
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- 2016
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16. Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.
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Charbit-Henrion, Fabienne, Bègue, Bernadette, Sierra, Anaïs, Hanein, Sylvain, Stolzenberg, Marie-Claude, Li, Zhi, Pellegrini, Sandra, Garcelon, Nicolas, Jeanpierre, Marc, Neven, Bénédicte, Loge, Isabelle, Picard, Capucine, Rosain, Jérémie, Bustamante, Jacinta, Le Lorc’h, Marc, Pigneur, Bénédicte, Fernandes, Alicia, null, null, Rieux-Laucat, Frédéric, and Amil Dias, Jorge
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INTERLEUKIN-10 ,INTERLEUKINS ,HEMATOPOIETIC stem cells ,HEMATOPOIETIC stem cell transplantation ,MESENCHYMAL stem cells ,MICROSATELLITE repeats - Abstract
Mutations in interleukin-10 receptor (IL-10R) genes are one cause of very early-onset inflammatory bowel disease with perianal lesions, which can be cured by hematopoietic stem cell transplantation. Using a functional test, which assesses responsiveness of peripheral monocytes to IL-10, we identified three unrelated Portuguese patients carrying two novel IL-10RB mutations. In the three patients, sequencing of genomic DNA identified the same large deletion of exon 3 which precluded protein expression. This mutation was homozygous in two patients born from consanguineous families and heterozygous in the third patient born from unrelated parents. Microsatellite analysis of the IL10RB genomic region revealed a common haplotype in the three Portuguese families pointing to a founder deletion inherited from a common ancestor 400 years ago. In the third patient, surface expression of IL-10R was normal but signaling in response to IL-10 was impaired. Complementary DNA sequencing and next-generation sequencing of IL10RB locus with custom-made probes revealed a ≈ 6 Kb duplication encompassing the exon 6 which leads to a frameshift mutation and a loss of the TYK2-interacting Box 2 motif. Altogether, we describe two novel copy number variations in IL10RB, one with founder effect and one preserving cell surface expression but abolishing signaling. [ABSTRACT FROM AUTHOR]
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- 2018
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17. 83 Identification of an Anti-Inflammatory Protein From Faecalibacterium prausnitzii, a Deficient Commensal Bacteria Implicated in Crohn's Disease
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Maubert, Marie-anne, primary, Quévrain, Elodie, additional, Chain, Florian, additional, Marquant, Rodrigue, additional, Kharrat, Pascale, additional, Carlier, Ludovic, additional, Bermúdez-Humarán, Luis G., additional, Pigneur, Bénédicte, additional, Lequin, Olivier, additional, Bridonneau, Chantal, additional, Thomas, Ginette, additional, Lavielle, Solange, additional, Grill, Jean-Pierre, additional, Chassaing, Gérard, additional, Masliah, Joëlle, additional, Trugnan, Germain, additional, Xavier, Ramnik J., additional, Langella, Philippe, additional, Sokol, Harry, additional, and Seksik, Philippe, additional
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- 2014
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18. Impact of Clinical and Pharmacological Parameters on Faecal Microbiota Transplantation Outcome in Clostridioides difficile Infections: Results of a 5‐Year French National Survey.
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Benech, Nicolas, Cassir, Nadim, Alric, Laurent, Barbut, Frédéric, Batista, Rui, Bleibtreu, Alexandre, Briot, Thomas, Davido, Benjamin, Galperine, Tatiana, Joly, Anne‐Christine, Kapel, Nathalie, Melchior, Chloé, Mosca, Alexis, Nebbad, Biba, Pigneur, Bénédicte, Schneider, Stéphane M., Wasiak, Mathieu, Scanzi, Julien, and Sokol, Harry
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FECAL microbiota transplantation , *CLOSTRIDIOIDES difficile , *CHRONIC kidney failure , *UNIVARIATE analysis , *MULTIVARIATE analysis - Abstract
ABSTRACT Background Aims Methods Results Conclusions Detailed comparative assessment of procedure‐related factors associated with faecal microbiota transplantation (FMT) efficacy in Clostridioides difficile infection (CDI) is limited.We took advantage of the differences in procedures at the various French FMT centres to determine clinical and procedure‐related factors associated with FMT success in CDI.We performed a nationwide retrospective multicentre cohort study. All FMTs performed within The French Faecal Transplant Group for CDI from 2018 to 2022 were included. Clinical data were collected retrospectively from recipient medical files, characteristics of stool transplant preparations were prospectively collected by each Pharmacy involved. Univariate and multivariate analyses were performed using Fisher's test and multiple logistic regression.Six hundred fifty‐eight FMTs were performed for 617 patients in 17 centres. The overall efficacy of FMT was 84.3% (520/617), with 0.5% of severe adverse events possibly related to FMT (3/658). Forty‐seven patients were treated at the first recurrence of CDI with a similar success rate (85.1%). Severe chronic kidney disease (CKD; OR: 2.18, 95%CI [1.20–3.88]), non‐severe refractory CDI (OR: 15.35, [1.94–318.2]), the use of ≥ 80% glycerol (OR: 2.52, [1.11–5.67]), insufficient bowel cleansing (OR: 5.47, [1.57–20.03]) and partial FMT retention (OR: 9.97, [2.62–48.49]) were associated with CDI recurrence within 8 weeks.Conditions of transplant manufacturing, bowel cleansing, and a route of delivery tailored to the patient's characteristics are key factors in optimising FMT efficacy. FMT at first recurrence showed high success in real‐life practice, whereas it had lower efficacy in severe CDI and non‐severe refractory CDI. [ABSTRACT FROM AUTHOR]
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- 2024
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19. S1726 Circulating Levels of MD-2 Are Elevated in Patients with Inflammatory Bowel Disease: Relevance to Loss of Tolerance of the Intestinal Epithelium to Commensal Bacteria and to the Related Risk of Cancer Development
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Seksik, Philippe, Sokol, Harry, Grondin, Virginie, Adrie, Christophe, Duboc, Henri, Pigneur, Benedicte, Thomas, Ginette, Beaugerie, Laurent, Trugnan, Germain, Masliah, Joelle, and Bachelet, Maria
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- 2009
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20. Is sexual harassment and psychological abuse among medical students a fatality? A 2-year study in the Paris Descartes School of Medicine
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Lisan, Quentin, Pigneur, Bénédicte, Pernot, Simon, Flahault, Cécile, Lenne, Frédéric, Friedlander, Gérard, Badoual, Cécile, Ranque, Brigitte, and Lemogne, Cédric
- Subjects
5. Gender equality ,education ,16. Peace & justice ,3. Good health - Abstract
An observatory of sexual harassment and psychological abuse was set up at one of France’s largest schools of medicine to both quantify and reduce sexual harassment or psychological abuse of medical students. Over a 2-year period, we described the evolution of sexual harassment and psychological abuse and explored for associated factors. Moreover, a qualitative analysis using an inductive approach was performed from students’ verbatim. 2795 responses were collected. Sexual harassment was reported in 7% and psychological abuse in 15%, at baseline, and decreased after the observatory was set up. Women had higher odds of being a victim of sexual harassment. Older students reported less often psychological abuse and being a witness of sexual harassment. Surgery departments were associated with up to 5.7-fold increased odds of sexual harassment. Surgery and pediatrics departments were associated with a 2-fold increased odds of psychological abuse. Qualitative analysis revealed four categories: humiliation, the feeling of inferiority, sexual harassment, and manifestations of violence. During clerkships, factors associated with higher odds of sexual harassment and psychological abuse were female gender, younger age, and departments of surgery. Setting up such an observatory may contribute to reduce this burden and provide a useful tool to raise awareness.
21. Is sexual harassment and psychological abuse among medical students a fatality? A 2-year study in the Paris Descartes School of Medicine
- Author
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Lisan, Quentin, Pigneur, Bénédicte, Pernot, Simon, Flahault, Cécile, Lenne, Frédéric, Friedlander, Gérard, Badoual, Cécile, Ranque, Brigitte, and Lemogne, Cédric
- Subjects
5. Gender equality ,education ,16. Peace & justice ,3. Good health - Abstract
An observatory of sexual harassment and psychological abuse was set up at one of France’s largest schools of medicine to both quantify and reduce sexual harassment or psychological abuse of medical students. Over a 2-year period, we described the evolution of sexual harassment and psychological abuse and explored for associated factors. Moreover, a qualitative analysis using an inductive approach was performed from students’ verbatim. 2795 responses were collected. Sexual harassment was reported in 7% and psychological abuse in 15%, at baseline, and decreased after the observatory was set up. Women had higher odds of being a victim of sexual harassment. Older students reported less often psychological abuse and being a witness of sexual harassment. Surgery departments were associated with up to 5.7-fold increased odds of sexual harassment. Surgery and pediatrics departments were associated with a 2-fold increased odds of psychological abuse. Qualitative analysis revealed four categories: humiliation, the feeling of inferiority, sexual harassment, and manifestations of violence. During clerkships, factors associated with higher odds of sexual harassment and psychological abuse were female gender, younger age, and departments of surgery. Setting up such an observatory may contribute to reduce this burden and provide a useful tool to raise awareness.
22. Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study
- Author
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Olivier Alibeu, P. Tounian, Nadia Siala, Michela Tempia-Caliera, Jean-Pierre Hugot, Sabine Rakotobe, Christelle Lenoir, Anne Breton, Caterina Strisciuglio, Víctor Manuel Navas-López, Jan Melek, Alain Fischer, Frédéric Rieux-Laucat, Marie-Claude Stolzenberg, Eric Jeziorski, Yago González-Lama, Bénédicte Pigneur, Mongi Ben Hariz, Marina Aloi, Sylvain Latour, Fabienne Mazerolles, Christian Breuer, Julie Bruneau, Clara Crémilleux, Cecile Pelatan, Vaidotas Urbonas, Alexandre Fabre, Nadine Cerf-Bensussan, Frank M. Ruemmele, Luisa Mearin, Capucine Picard, Georgia Malamut, Neslihan Gurcan, Anders Paerregaard, Isabel Pinto Pais, Dan Turner, István Máttyus, Julie Rebeuh, Jiri Bronsky, Sylvain Hanein, Peter Lewindon, Rémi Duclaux-Loras, Graziella Guariso, Anne Bourrier, Odul Egritas Gurkan, Janos Major, Stéphanie Willot, Mara Cananzi, Marianna Parlato, Claudio Romano, Alain Lachaux, Matjaz Homan, Jorge Amil Dias, Eva Lévy, A Fischer, Stéphanie Coopman, Jan Krzysztof Nowak, Fernando Magro, Clémentine Dumant-Forest, Stephan Buderus, Bernadette Bègue, Fabienne Charbit-Henrion, Olivier Goulet, Evi Karanika, Alain Dabadie, Emmanuel Mas, Marta German Diaz, Cécile Fourrage, Rosa Lima, Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egrita, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Jano, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Ander, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidota, Willot, Stéphanie, Ruemmele, Frank M, and Cerf-Bensussan, Nadine
- Subjects
VEO-IBD ,business.industry ,Yield (finance) ,monogenic IBD ,next generation sequencing ,very early onset IBD ,Gastroenterology ,Inflammatory Bowel Diseases ,Genetics and molecular epidemiology ,Original Articles ,General Medicine ,monogenic disorders ,Bioinformatics ,Very early onset ,DNA sequencing ,paediatrics ,Editor's Choice ,Multicenter study ,TNGS ,Medicine ,genetics and molecular epidemiology ,business - Abstract
Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.
- Published
- 2020
23. Idiopathic central precocious puberty in 28 boys.
- Author
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Pigneur B, Trivin C, and Brauner R
- Subjects
- Age of Onset, Child, Cohort Studies, Follicle Stimulating Hormone blood, Gonadotropin-Releasing Hormone analogs & derivatives, Humans, Luteinizing Hormone blood, Male, Puberty, Precocious blood, Puberty, Precocious genetics, Testosterone blood, Puberty, Precocious etiology
- Abstract
Background: Idiopathic central precocious puberty (CPP) is rare in boys. The aim was to to analyze the presentation and evaluate the frequency of familial factor in boys with idiopathic CPP., Material/methods: Data for 28 boys seen consecutively by the same physician for idiopathic CPP were analyzed., Results: Puberty started after seven years in all the boys. The associations were intrauterine growth retardation in two, one of whom had Silver Russell syndrome, bilateral retinal degeneration (one case), epilepsy (one case), cryptorchidism (two cases), and inguinal hernia (two cases). All patients had normal basal plasma concentrations of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). The LH/FSH peaks ratio after a gonadotropin hormone-releasing hormone (GnRH) test was <2 in 8/26 and plasma testosterone <0.5 ng/ml in 5/28. Familial early puberty was found in 12 cases (40%). Familial and non-familial forms had similar characteristics, except that body mass index was greater in the familial form (P<0.04). Plasma testosterone of one patient, whose mother had menstruated at 11 years, remained >1 ng/ml despite shortening the interval between GnRH analogue injections., Conclusions: Puberty started after seven years in all cases of idiopathic CPP, suggesting that pubertal onset before this age suggests organic CPP. Almost half the cases had familial early puberty.
- Published
- 2008
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