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21 results on '"Emmanuel Mas"'

1. Multi-Omics Analysis of Gut Microbiota in Inflammatory Bowel Diseases: What Benefits for Diagnostic, Prognostic and Therapeutic Tools?

Author: Frédérick Barreau, Emmanuel Mas, Alexis Cassard, Vickie Lacroix, CHU Toulouse, Hôpital des Enfants, Unité de Gastroentérologie, Hépatologie et Nutrition, Département de Pédiatrie, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], CHU Toulouse [Toulouse], Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-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)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), DGOS (Reference Center of Rare Digestive Diseases of Toulouse University Hospital), the patient association François Aupetit, Service Gastroentérologie, hépatologie nutrition, diabétologie et maladies héréditaires du métabolisme pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and SEGUIN, Nathalie
Subjects: Crohn’s disease, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, [SDV.MHEP.PHY] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Review, Disease, Gut flora, Bioinformatics, Inflammatory bowel disease, 0302 clinical medicine, A, E, Precision Medicine, Biology (General), Phylogeny, Spectroscopy, 0303 health sciences, Crohn's disease, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, biology, Microbiota, General Medicine, Ulcerative colitis, 3. Good health, Computer Science Applications, Chemistry, Mas, Disease Progression, 030211 gastroenterology & hepatology, F. Multi-Omics Analysis of Gut Microbiota in Inflammatory Bowel Diseases: What Benefits for Diagnostic, QH301-705.5, Omics, digestive system, eulcerative colitis, Catalysis, Inorganic Chemistry, 03 medical and health sciences, medicine, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, Physical and Theoretical Chemistry, QD1-999, Molecular Biology, Barreau, 030304 developmental biology, Bacteria, business.industry, V, Organic Chemistry, Cassard, Lacroix, Inflammatory Bowel Diseases, medicine.disease, biology.organism_classification, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, digestive system diseases, Prognostic inflammatory bowel disease, [SDV.BIO] Life Sciences [q-bio]/Biotechnology, Gastrointestinal Microbiome, Crohn's diseas, Metagenomics, Personalized medicine, [SDV.MP.BAC] Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, business, Dysbiosis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Inflammatory bowel diseases (IBDs), which include Crohn’s disease and ulcerative colitis, are multifactorial diseases that involve in particular a modification of the gut microbiota, known as dysbiosis. The initial sets of metataxonomic and metagenomic data first made it possible to approximate the microbiota profile in IBD. In addition, today the new ‘omics’ techniques have enabled us to draw up a functional and integrative map of the microbiota. The key concern in IBD is to develop biomarkers that allow us to assess the activity of the disease and predict the complications and progression, while also guiding the therapeutic care so as to develop personalized medicine. In this review, we present all of the latest discoveries on the microbiota provided by “omics” and we outline the benefits of these techniques in developing new diagnostic, prognostic and therapeutic tools.
Published: 2021

2. Drugs in Focus: Octreotide Use in Children With Gastrointestinal Disorders

Author: Osvaldo Borrelli, Erasmo Miele, C Ribes Koninckx, Rut Ann Thomassen, J Martin de-Carpi, Marc A. Benninga, Ilse Broekaert, Jernej Dolinsek, Christo Tzivinikos, Corina Pienar, Emmanuel Mas, Mike Thomson, Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-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)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Great Ormond Street Hospital for Children [London] (GOSH), University Hospital of Cologne [Cologne], University medical centre Maribor (UKC Maribor), 'Federico II' University of Naples Medical School, Victor Babeş University of Medicine and Pharmacy (UMFT), University of Amsterdam [Amsterdam] (UvA), Vall d'Hebron University Hospital [Barcelona], Hospital Universitari i Politècnic La Fe, Oslo University Hospital [Oslo], Sheffield Children's NHS Foundation Trust, Al Jalila Children's Specialty Hospital, and VU University Medical Center [Amsterdam]
Subjects: medicine.medical_specialty, Gastrointestinal bleeding, Gastrointestinal Diseases, Octreotide, Lymphangiectasia, somatostatin, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Gastrointestinal Agents, children, Chylous ascites, Internal medicine, chylous ascites, medicine, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, Child, business.industry, Chylothorax, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, medicine.disease, bleeding, 3. Good health, Clinical trial, diarrhoea, Pancreatitis, Pharmaceutical Preparations, ocreotide, 030220 oncology & carcinogenesis, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Acute Disease, Pediatrics, Perinatology and Child Health, Acute pancreatitis, 030211 gastroenterology & hepatology, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, medicine.drug
Abstract: International audience; Octreotide, a somatostatin analogue, has been used for more than 20 years in children with gastrointestinal bleeding, chylothorax or chylous ascites, intestinal lymphangiectasia, pancreatitis, intestinal dysmotility, and severe diarrhoea; however, until now, there is a lack of randomised clinical trials evaluating the efficacy of this compound in childhood. Hence, we aimed to review the literature in order to determine the evidence of its use and safety in children, using PubMed from 2000 to 2021 with the search terms "octreotide" and "children" and "bleeding or chylous ascites or chylothorax or acute pancreatitis or lymphangiectasia or diarrhoea or intestinal dysmotility".
Published: 2021

3. Diagnosis, Management, and Prevention of Button Battery Ingestion in Childhood: A European Society for Paediatric Gastroenterology Hepatology and Nutrition Position Paper

Author: Matjaž Homan, Nikhil Thapar, Mike Thomson, Christos Tzivinikos, Lissy de Ridder, Amani Mubarak, Emmanuel Mas, Marc A. Benninga, Ilse Broekaert, Corina Pienar, Jernej Dolinsek, Erasmo Miele, University Medical Center [Utrecht], Emma Children’s Hospital, University Hospital of Cologne [Cologne], University medical centre Maribor (UKC Maribor), Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-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)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), 'Federico II' University of Naples Medical School, Victor Babeş University of Medicine and Pharmacy (UMFT), Great Ormond Street Hospital for Children [London] (GOSH), Sheffield Children's NHS Foundation Trust, Al Jalila Children's Specialty Hospital, Eramus MC-Sophia Children’s Hospital, Partenaires INRAE, Nestle SA, Danone Nutricia, Mubarak, Amani, Benninga, Marc A, Broekaert, Ilse, Dolinsek, Jernej, Homan, Matjaž, Mas, Emmanuel, Miele, Erasmo, Pienar, Corina, Thapar, Nikhil, Thomson, Mike, Tzivinikos, Christo, de Ridder, Lissy, Paediatric Gastroenterology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, SEGUIN, Nathalie, and Pediatrics
Subjects: medicine.medical_specialty, MEDLINE, [SPI.MAT] Engineering Sciences [physics]/Materials, Asymptomatic, [SPI.MAT]Engineering Sciences [physics]/Materials, Eating, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Electric Power Supplies, Esophagus, 0302 clinical medicine, SDG 3 - Good Health and Well-being, 030225 pediatrics, Internal medicine, medicine, Humans, endoscopy, Child, Intensive care medicine, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, medicine.diagnostic_test, Impaction, business.industry, Gastroenterology, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Guideline, Hepatology, Foreign Bodies, foreign body, esophageal perforation, [SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, 3. Good health, Endoscopy, caustic ingestion, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, medicine.anatomical_structure, pediatric, Pediatrics, Perinatology and Child Health, Position paper, 030211 gastroenterology & hepatology, medicine.symptom, business, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
Abstract: International audience; Button batteries (BB) remain a health hazard to children as ingestion might lead to life-threatening complications, especially if the battery is impacted in the esophagus. Worldwide initiatives have been set up in order to prevent and also timely diagnose and manage BB ingestions. A European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) task force for BB ingestions has been founded, which aimed to contribute to reducing the health risks related to this event. It is important to focus on the European setting, next to other worldwide initiatives, to develop and implement effective management strategies. As one of the first initiatives of the ESPGHAN task force, this ESPGHAN position paper has been written. The literature is summarized, and prevention strategies are discussed focusing on some controversial topics. An algorithm for the diagnosis and management of BB ingestions is presented and compared to previous guidelines (NASPGHAN, National Poison Center). In agreement with earlier guidelines, immediate localization of the BB is important and in case of esophageal impaction, the BB should be removed instantly (preferably 12 hours after ingestion or time point of removal >12 hours after ingestion) and esophageal impaction the guideline suggests to perform a CT scan in order to evaluate for vascular injury before removing the battery. In delayed diagnosis, even if the battery has passed the esophagus, endoscopy to screen for esophageal damage and a CT scan to rule out vascular injury should be considered even in asymptomatic children. In asymptomatic patients with early diagnosis (
Published: 2021

4. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Author: Karine Duroure, Estelle Colin, Thomas Edouard, Ludovic Martin, Linda Grimaud, Lyndon Gallacher, George McGillivray, Guy Lenaers, Valérie Desquiret-Dumas, Clarisse Billon, Anne Breton, Mohammed Zarhrate, Emmanuel Mas, Dominique Bonneau, Lynn Pais, Daniel Henrion, Thomas Haaf, Reza Maroofian, Marianna Parlato, Frank M. Ruemmele, Anne-Laure Guihot, Anaïs Philippe, Ehsan Ghayoor Karimiani, Pauline E. Schneeberger, Stanislas Lyonnet, Bernadette Bègue, Bruno Moulin, Rémi Duclaux-Loras, Nicolas Cagnard, Michael Frank, Laurence Faivre, Ruben Attali, Yves Alembik, Filippo Del Bene, Kerstin Kutsche, Céline Revenu, Fabienne Charbit-Henrion, Katta M. Girisha, Aboulfazl Rad, Eyal Reinstein, Shalini S. Nayak, Barbara Vona, Nadine Cerf-Bensussan, Caroline Lekszas, Shay Tzur, Alban Ziegler, Susan M. White, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratory of Intestinal Immunity (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Ingénierie Radioprotection Sûreté Démantèlement (IRSD), Centre National de la Recherche Scientifique (CNRS), Geroscience and rejuvenation research center (RESTORE), Université de Toulouse (UT)-Université de Toulouse (UT)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), 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), Embryology and genetics of human malformation, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital de Hautepierre [Strasbourg], Nouvel Hôpital Civil de Strasbourg, Tel Aviv University (TAU), Emedgene Technologies [Tel Aviv], Murdoch Children's Research Institute (MCRI), Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Kasturba Medical College, Manipal, Massachusetts Institute of Technology (MIT), University College of London [London] (UCL), Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, St George's, University of London, University of Würzburg = Universität Würzburg, Fondation Princesse Grace, Fondation Maladies Rares, Harbig Family Foundation, Royal Children's Hospital Foundation, University of Tubingen (2545-1-0), Federal Ministry of Education and Research (01DQ17003 to K.K.), Indian Council of Medical Research (file no. 5/7/1508/2016 to K.M.G), National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung, and Blood Institute grant UM1 HG008900, National Human Genome Research Institute grant R01 HG009141, Victorian Government's Operational Infrastructure Support Program, ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-18-IAHU-0001,FOReSIGHT,Enabling Vision Restoration(2018), European Project: 661527,H2020,H2020-MSCA-IF-2014,NMJALS(2015), European Project: 339407,EC:FP7:ERC,ERC-2013-ADG,IMMUNOBIOTA(2014), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Autophagie infection et immunité - Autophagy Infection Immunity (APY), Centre International de Recherche en Infectiologie - UMR (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Génétique et Biologie du Développement, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), 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)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Embryology and genetics of human malformation (Equipe Inserm U1163), SEGUIN, Nathalie, Instituts Hospitalo-Universitaires - Institut Hospitalo-Universitaire Imagine - - Imagine2010 - ANR-10-IAHU-0001 - IAHU - VALID, Enabling Vision Restoration - - FOReSIGHT2018 - ANR-18-IAHU-0001 - IAHU - VALID, In vivo analysis of neuromuscular junction stability in zebrafish models of amyotrophic lateral sclerosis - NMJALS - - H20202015-11-16 - 2017-11-15 - 661527 - VALID, Host-microbiota interactions across the gut immune system:lessons from early onset inflammatory bowel diseases and from gnotobiotic mice - IMMUNOBIOTA - - EC:FP7:ERC2014-03-01 - 2019-02-28 - 339407 - VALID, École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Connective Tissue Disorder, Loss of Heterozygosity, [SDV.GEN] Life Sciences [q-bio]/Genetics, medicine.disease_cause, IPO8, TGF-β signaling, Pathogenesis, 0302 clinical medicine, Loss of Function Mutation, Transforming Growth Factor beta, connective tissue disorder, Child, Connective Tissue Diseases, Zebrafish, Genetics (clinical), Karyopherin, chemistry.chemical_classification, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Immunity, Cellular, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Middle Aged, beta Karyopherins, Pedigree, arterial dilatation, Cell biology, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Phenotype, medicine.anatomical_structure, Cardiovascular Diseases, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Female, Bone Diseases, Signal Transduction, Adult, Adolescent, Connective tissue, Biology, Importin 8, Young Adult, 03 medical and health sciences, [SDV.IMM.VAC] Life Sciences [q-bio]/Immunology/Vaccinology, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Report, Genetics, medicine, Animals, Humans, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Infant, Immune dysregulation, Loeys-Dietz syndrome, biology.organism_classification, joint hyperlaxity, chemistry, [SDV.IMM.VAC]Life Sciences [q-bio]/Immunology/Vaccinology, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Transforming growth factor
Abstract: International audience; Dysregulated transforming growth factor TGF-beta signaling underlies the pathogenesis of genetic disorders affecting the connective tissue such as Loeys-Dietz syndrome. Here, we report 12 individuals with bi-allelic loss-of-function variants in IPO8 who presented with a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, and various degree of dysmorphic features and developmental delay as well as immune dysregulation; the individuals were from nine unrelated families. Importin 8 belongs to the karyopherin family of nuclear transport receptors and was previously shown to mediate TGF-beta-dependent SMADs trafficking to the nucleus in vitro. The important in vivo role of IPO8 in pSMAD nuclear translocation was demonstrated by CRISPR/Cas9-mediated inactivation in zebrafish. Consistent with IPO8's role in BMP/TGF-beta signaling, ipo8(-/-) zebrafish presented mild to severe dorso-ventral patterning defects during early embryonic development. Moreover, ipo8(-/-) zebrafish displayed severe cardiovascular and skeletal defects that mirrored the human phenotype. Our work thus provides evidence that IPO8 plays a critical and non-redundant role in TGF-beta signaling during development and reinforces the existing link between TGF-beta signaling and connective tissue defects.
Published: 2021

5. Diagnosing undernutrition children and adults: new French criteria. Why, for what and for whom? A joint statement of the French National Authority for Health and French Federation of Nutrition

Author: Emmanuel Mas, Béatrice Dubern, Jean-Claude Desport, Jacques Delarue, Francisca Joly, Alexandre Pitard, Eric Fontaine, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Neuroépidémiologie Tropicale (NET), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-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)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Haute Autorité de Santé [Saint-Denis La Plaine] (HAS), Laboratory of Fundamental and Applied Bioenergetics = Laboratoire de bioénergétique fondamentale et appliquée (LBFA), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)
Subjects: Adult, Pediatrics, medicine.medical_specialty, 030309 nutrition & dietetics, Population, Medicine (miscellaneous), Nutritional Status, Guidelines as Topic, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Weight loss, Weight Loss, medicine, Humans, 030212 general & internal medicine, Obesity, education, Child, Body mass index, 2. Zero hunger, 0303 health sciences, education.field_of_study, Nutrition and Dietetics, business.industry, Malnutrition, Undernutrition, medicine.disease, Nutritional assessment, 3. Good health, Systematic review, Etiology, medicine.symptom, business, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Muscle function assessment
Abstract: The objective was to establish new diagnostic criteria for undernutrition for the French population, concordant for children aged
Published: 2021

6. Cytolethal Distending Toxin Promotes Replicative Stress Leading to Genetic Instability Transmitted to Daughter Cells

Author: William Tremblay, Florence Mompart, Elisa Lopez, Muriel Quaranta, Valérie Bergoglio, Saleha Hashim, Delphine Bonnet, Laurent Alric, Emmanuel Mas, Didier Trouche, Julien Vignard, Audrey Ferrand, Gladys Mirey, Anne Fernandez-Vidal, Génotoxicité & Signalisation (ToxAlim-GS), ToxAlim (ToxAlim), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-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-Ecole d'Ingénieurs de Purpan (INPT - EI Purpan), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut de Recherche en Santé Digestive (IRSD ), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de biologie moléculaire, cellulaire et du développement (MCD), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Contaminants & Stress Cellulaire (ToxAlim-COMICS), CHU Toulouse [Toulouse], La Ligue Contrele Cancer (Haute-Garonne’s committee), ANR-10-CESA-0011,GENOTOXTRACK,Biomarqueurs de génotoxicité ex vivo et in vivo.(2010), ANR-14-CE21-0008,GENOTRACE,Traceurs de génotoxicité et traceurs biologiques pour un essai micronoyau en cellules vivantes(2014), Mirey, Gladys, CONTAMINANTS, ECOSYSTEMES, SANTE - Biomarqueurs de génotoxicité ex vivo et in vivo. - - GENOTOXTRACK2010 - ANR-10-CESA-0011 - CES - VALID, Appel à projets générique - Traceurs de génotoxicité et traceurs biologiques pour un essai micronoyau en cellules vivantes - - GENOTRACE2014 - ANR-14-CE21-0008 - Appel à projets générique - VALID, Unité de biologie moléculaire, cellulaire et du développement - UMR5077 (MCD), Centre de Biologie Intégrative (CBI), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and La Ligue Contre le Cancer (Haute-Garonne's committee) (AF-V)
Subjects: Cell division, Cytolethal distending toxin, DNA damage, QH301-705.5, [SDV]Life Sciences [q-bio], Cell, replicative stress, [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, medicine.disease_cause, Cell and Developmental Biology, 03 medical and health sciences, medicine, Biology (General), Mitosis, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Original Research, 030304 developmental biology, 0303 health sciences, humancolorectal organoid, [SDV.GEN]Life Sciences [q-bio]/Genetics, 030302 biochemistry & molecular biology, DNA bridge, DNA replication, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, genetic instability, Cell Biology, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, 3. Good health, Cell biology, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, human colorectal organoid, Stem cell, [SDV.MP.BAC] Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Carcinogenesis, cytolethal distending toxin, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Developmental Biology
Abstract: The cytolethal distending toxin (CDT) is produced by several Gram-negative pathogenic bacteria. In addition to inflammation, experimental evidences are in favor of a protumoral role of CDT-harboring bacteria such as Escherichia coli, Campylobacter jejuni, or Helicobacter hepaticus. CDT may contribute to cell transformation in vitro and carcinogenesis in mice models, through the genotoxic action of CdtB catalytic subunit. Here, we investigate the mechanism of action by which CDT leads to genetic instability in human cell lines and colorectal organoids from healthy patients’ biopsies. We demonstrate that CDT holotoxin induces a replicative stress dependent on CdtB. The slowing down of DNA replication occurs mainly in late S phase, resulting in the expression of fragile sites and important chromosomic aberrations. These DNA abnormalities induced after CDT treatment are responsible for anaphase bridge formation in mitosis and interphase DNA bridge between daughter cells in G1 phase. Moreover, CDT-genotoxic potential preferentially affects human cycling cells compared to quiescent cells. Finally, the toxin induces nuclear distension associated to DNA damage in proliferating cells of human colorectal organoids, resulting in decreased growth. Our findings thus identify CDT as a bacterial virulence factor targeting proliferating cells, such as human colorectal progenitors or stem cells, inducing replicative stress and genetic instability transmitted to daughter cells that may therefore contribute to carcinogenesis. As some CDT-carrying bacterial strains were detected in patients with colorectal cancer, targeting these bacteria could be a promising therapeutic strategy.
Published: 2021

7. How Can a Polymeric Formula Induce Remission in Crohn’s Disease Patients ?

Author: kawthar Boumessid, Frédérick Barreau, Emmanuel Mas, Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-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)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse, Hôpital des Enfants, Unité de Gastroentérologie, Hépatologie et Nutrition, Département de Pédiatrie, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Service Gastroentérologie, hépatologie nutrition, diabétologie et maladies héréditaires du métabolisme pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and Raynaud, Christelle
Subjects: 0301 basic medicine, Crohn’s disease, medicine.medical_specialty, Crohn&#8217, Polymers, Lipid composition, Disease, Review, Inflammatory bowel disease, Gastroenterology, Models, Biological, Catalysis, Inorganic Chemistry, lcsh:Chemistry, s disease, mucosal healing, 03 medical and health sciences, Transforming Growth Factor beta2, 0302 clinical medicine, Crohn Disease, inflammatory bowel disease, Internal medicine, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Dietary therapy, Palatability, Physical and Theoretical Chemistry, Intestinal Mucosa, Molecular Biology, lcsh:QH301-705.5, Spectroscopy, Crohn's disease, business.industry, exclusive enteral nutrition, Organic Chemistry, Remission Induction, General Medicine, medicine.disease, 3. Good health, Computer Science Applications, 030104 developmental biology, Parenteral nutrition, lcsh:Biology (General), lcsh:QD1-999, Mucosal healing, 030211 gastroenterology & hepatology, business
Abstract: International audience; Crohn’s disease is an inflammatory bowel disease whose prevalence is increasing worldwide. Among medical strategies, dietary therapy with exclusive enteral nutrition is recommended as a first-line option, at least for children, because it induces clinical remission and mucosal healing. Modulen®, a polymeric TGF-β2 enriched formula, has good palatability and is widely used. For the first time in the literature, this review outlines and discusses the clinical outcomes obtained with this therapy, as well as the potential mechanisms of action of its compounds. It can be explained by its TGF-β2 content, but also by its protein and lipid composition. Further well-designed studies are required to improve our knowledge and to optimize therapeutic strategies.
Published: 2021

8. Epithelial production of elastase is increased in inflammatory bowel disease and causes mucosal inflammation

Author: Perrine Rousset, Laurent Alric, Anissa Edir, Chrystelle Bonnart, Jean-Paul Motta, Céline Deraison, David Sagnat, Elena F. Verdu, Derek M. McKay, Corinne Rolland, Emmanuel Mas, Laura Guiraud, Delphine Bonnet, Nathalie Vergnolle, Muriel Quaranta-Nicaise, Etienne Buscail, Ana Carolina Rodrigues Florence, Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-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)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), CHU Toulouse [Toulouse], McMaster University [Hamilton, Ontario], University of Calgary, ANR JCJC-11JSV1 001 01, AOL-MICILIP project, ANR-12-BSV1-0030,ELAPROB-IBD,Mecanismes d'action des probiotiques recombinants pour l'Elafine: Leur utilisation possible pour traiter les maladies inflammatoires chroniques de l'intestin?(2012), ANR-11-EQPX-0003,ANINFIMIP,Equipements plateforme animalerie infectieuse de haute-sécurité de Midi Pyrénées(2011), European Project: 627487,EC:FP7:PEOPLE,FP7-PEOPLE-2013-IOF,EPIMACASE(2014), European Project: 310973,EC:FP7:ERC,ERC-2012-StG_20111109,PIPE(2013), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), SEGUIN, Nathalie, BLANC - Mecanismes d'action des probiotiques recombinants pour l'Elafine: Leur utilisation possible pour traiter les maladies inflammatoires chroniques de l'intestin? - - ELAPROB-IBD2012 - ANR-12-BSV1-0030 - BLANC - VALID, Equipements plateforme animalerie infectieuse de haute-sécurité de Midi Pyrénées - - ANINFIMIP2011 - ANR-11-EQPX-0003 - EQPX - VALID, THE ROLE OF ELASTASE/ELASTASE INHIBITOR IN DIALOG BETWEEN INTESTINAL EPITHELIAL CELLS AND MACROPHAGES IN INFLAMMATORY BOWEL DISEASES CONTEXT - EPIMACASE - - EC:FP7:PEOPLE2014-08-06 - 2016-08-05 - 627487 - VALID, and Physiology of the Intestine: Proteases from the Epithelium - PIPE - - EC:FP7:ERC2013-04-01 - 2018-03-31 - 310973 - VALID
Subjects: 0301 basic medicine, Adult, Male, Proteases, [SDV.MHEP.PHY] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Colon, medicine.medical_treatment, Immunology, Inflammation, Disease, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Inflammatory bowel disease, Article, Tight Junctions, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Immunology and Allergy, Medicine, Humans, Intestinal Mucosa, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Immunity, Mucosal, Barrier function, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Elastase, Middle Aged, medicine.disease, Inflammatory Bowel Diseases, Pathophysiology, digestive system diseases, 3. Good health, Up-Regulation, 030104 developmental biology, Cytokine, Cytokines, 030211 gastroenterology & hepatology, Female, medicine.symptom, Inflammation Mediators, business, Leukocyte Elastase, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Imbalance between proteases and their inhibitors plays a crucial role in the development of Inflammatory Bowel Diseases (IBD). Increased elastolytic activity is observed in the colon of patients suffering from IBD. Here, we aimed at identifying the players involved in elastolytic hyperactivity associated with IBD and their contribution to the disease. We revealed that epithelial cells are a major source of elastolytic activity in healthy human colonic tissues and this activity is greatly increased in IBD patients, both in diseased and distant sites of inflammation. This study identified a previously unrevealed production of elastase 2A (ELA2A) by colonic epithelial cells, which was enhanced in IBD patients. We demonstrated that ELA2A hyperactivity is sufficient to lead to a leaky epithelial barrier. Epithelial ELA2A hyperactivity also modified the cytokine gene expression profile with an increase of pro-inflammatory cytokine transcripts, while reducing the expression of pro-resolving and repair factor genes. ELA2A thus appears as a novel actor produced by intestinal epithelial cells, which can drive inflammation and loss of barrier function, two essentials pathophysiological hallmarks of IBD. Targeting ELA2A hyperactivity should thus be considered as a potential target for IBD treatment.
Published: 2021

9. Colitis Linked to Endoplasmic Reticulum Stress Induces Trypsin Activity Affecting Epithelial Functions

Author: Delphine Bonnet, Nathalie Vergnolle, Sylvain Kirzin, Corinne Rolland, Muriel Quaranta-Nicaise, Alexandre Denadai-Souza, Anissa Edir, Laurent Alric, Nuria Sola Tapias, Emmanuel Mas, Gilles Dietrich, Marlène Marcellin, Frédérick Barreau, Carla Cirillo, Céline Deraison, Claire Rolland-Fourcade, Odile Burlet-Schiltz, Chrystelle Bonnart, Catherine Blanpied, Guillaume Portier, Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-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)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut de pharmacologie et de biologie structurale (IPBS), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), CHU Toulouse [Toulouse], University of Calgary, ANR-11-JSV1-0001,IBD-ase,Identification des protéases impliquées dans les maladies inflammatoires chroniques de l'intestin et analyse moléculaire des conséquences de leur hyperactivité(2011), European Project: 310973,EC:FP7:ERC,ERC-2012-StG_20111109,PIPE(2013), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), and Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)
Subjects: 0301 basic medicine, Chemokine, Thapsigargin, Cell Culture Techniques, Inflammation, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Inflammatory bowel disease, Cell Line, 03 medical and health sciences, chemistry.chemical_compound, trypsin-like proteases, 0302 clinical medicine, Crohn Disease, medicine, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, Trypsin, Interleukin 8, sendoplasmic reticulum stress, Barrier function, biology, business.industry, Endoplasmic reticulum, Gastroenterology, intestinal epithelial cell, General Medicine, Endoplasmic Reticulum Stress, 3. Good health, Cell biology, Organoids, Enterocytes, 030104 developmental biology, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Intestinal Absorption, chemistry, Unfolded protein response, biology.protein, Colitis, Ulcerative, 030211 gastroenterology & hepatology, medicine.symptom, permeability, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, medicine.drug
Abstract: Background and Aims Intestinal epithelial cells [IECs] from inflammatory bowel disease [IBD] patients exhibit an excessive induction of endoplasmic reticulum stress [ER stress] linked to altered intestinal barrier function and inflammation. Colonic tissues and the luminal content of IBD patients are also characterized by increased serine protease activity. The possible link between ER stress and serine protease activity in colitis-associated epithelial dysfunctions is unknown. We aimed to study the association between ER stress and serine protease activity in enterocytes and its impact on intestinal functions Methods The impact of ER stress induced by Thapsigargin on serine protease secretion was studied using either human intestinal cell lines or organoids. Moreover, treating human intestinal cells with protease-activated receptor antagonists allowed us to investigate ER stress-resulting molecular mechanisms that induce proteolytic activity and alter intestinal epithelial cell biology. Results Colonic biopsies from IBD patients exhibited increased epithelial trypsin-like activity associated with elevated ER stress. Induction of ER stress in human intestinal epithelial cells displayed enhanced apical trypsin-like activity. ER stress-induced increased trypsin activity destabilized intestinal barrier function by increasing permeability and by controlling inflammatory mediators such as C-X-C chemokine ligand 8 [CXCL8]. The deleterious impact of ER stress-associated trypsin activity was specifically dependent on the activation of protease-activated receptors 2 and 4. Conclusions Excessive ER stress in IECs caused an increased release of trypsin activity that, in turn, altered intestinal barrier function, promoting the development of inflammatory process.
Published: 2021

10. Characterization of Human Colon Organoids From Inflammatory Bowel Disease Patients

Author: Emilie d’Aldebert, Muriel Quaranta, Morgane Sébert, Delphine Bonnet, Sylvain Kirzin, Guillaume Portier, Jean-Pierre Duffas, Sophie Chabot, Philippe Lluel, Sophie Allart, Audrey Ferrand, Laurent Alric, Claire Racaud-Sultan, Emmanuel Mas, Céline Deraison, Nathalie Vergnolle, Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-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)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), MARine Biodiversity Exploitation and Conservation (UMR MARBEC), Institut de Recherche pour le Développement (IRD)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Chirurgie Générale et Digestive [Purpan], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Chirurgie Générale et Digestive [Rangueil], CHU Toulouse [Toulouse]-Hôpital de Rangueil, Institut de pharmacologie et de biologie structurale (IPBS), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), UROsphere S.A.S., Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Faculte des Sciences Pharmaceutiques, Centre de Physiopathologie Toulouse Purpan ex IFR 30 et IFR 150 (CPTP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Pharmacochimie et Biologie pour le Développement (PHARMA-DEV), Institut de Recherche pour le Développement (IRD)-Institut de Chimie de Toulouse (ICT-FR 2599), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Unité de Gastroentérologie, Hépatologie, Nutrition, Diabétologie et Maladies Héréditaires du Métabolisme, Centre Hospitalier Universitaire de Toulouse, Department of Physiology and Pharmacology, University of Calgary, University of Calgary, Region Provence-Alpes-Cote d'Azur, Region Occitanie, European Research Council (ERC) : ERC-2012-StG20111109, FUI (Fond Unique Interministeriel) Program ORGANOCAN, 'Banque Publique d'Investissement' of France, Toulouse-Metropole, Conseil Departemental du Tarn, 'Delegation Regionale a la Recherche Clinique des Hopitaux de Toulouse,' the MICILIP project, ANR: ANR,ANR (R12177BB to NV), Centre de Physiopathologie Toulouse Purpan (CPTP), and ANR (R12177BB to NV) ANR
Subjects: Crohn’s disease, organoid, IBD, Cell Biology, inflammatory bowel diseases, digestive system diseases, intestine Abbreviations: CD, Cell and Developmental Biology, Crohn's disease, UC, lcsh:Biology (General), inflammation, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], intestine, lcsh:QH301-705.5, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Original Research, Developmental Biology, ulcerative colitis
Abstract: International audience; Inflammatory Bowel Diseases (IBD) are chronic inflammatory disorders, where epithelial defects drive, at least in part, some of the pathology. We reconstituted human intestinal epithelial organ, by using three-dimension culture of human colon organoids. Our aim was to characterize morphological and functional phenotypes of control (non-IBD) organoids, compared to inflamed organoids from IBD patients. The results generated describe the epithelial defects associated with IBD in primary organoid cultures, and evaluate the use of this model for pharmacological testing of anti-inflammatory approaches. Human colonic tissues were obtained from either surgical resections or biopsies, all harvested in non-inflammatory zones. Crypts were isolated from controls (non-IBD) and IBD patients and were cultured up to 12-days. Morphological (size, budding formation, polarization, luminal content), cell composition (proliferation, differentiation, immaturity markers expression), and functional (chemokine and tight junction protein expression) parameters were measured by immunohistochemistry, RT-qPCR or western-blot. The effects of inflammatory cocktail or anti-inflammatory treatments were studied in controls and IBD organoid cultures respectively. Organoid cultures from controls or IBD patients had the same cell composition after 10 to 12-days of culture, but IBD organoid cultures showed an inflammatory phenotype with decreased size and budding capacity, increased cell death, luminal debris, and inverted polarization. Tight junction proteins were also significantly decreased in IBD organoid cultures. Inflammatory cytokine cocktail reproduced this inflammatory phenotype in non-IBD organoids. Clinically used treatments (5-ASA, glucocorticoids, anti-TNF) reduced some, but not all parameters. Inflammatory phenotype is associated with IBD epithelium, and can be studied in organoid cultures. This model constitutes a reliable human pre-clinical model to investigate new strategies targeting epithelial repair.
Published: 2020

11. Sustainable positive response to sirolimus in juvenile polyposis of infancy

Author: Nathalie Vergnolle, Marie Danjoux, Muriel Quaranta, Emmanuel Mas, Claire Racaud-Sultan, Audrey Ferrand, Frédérick Barreau, Nolwenn Laborde, Institut de Recherche en Santé Digestive (IRSD ), 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), 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), Service d'anatomie pathologique et histologie-cytologie [Rangueil], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Racaud-Sultan, Claire, and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT)
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Treatment outcome, MEDLINE, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Text mining, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, 030225 pediatrics, medicine, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, Gastroenterology, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Juvenile Polyposis, [SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Positive response, Sirolimus, [SDV.SP.PHARMA] Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, Pediatrics, Perinatology and Child Health, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, 030211 gastroenterology & hepatology, business, medicine.drug
Abstract: International audience
Published: 2019

12. Experience of Using a Semielemental Formula for Home Enteral Nutrition in Children: A Multicenter Cross-sectional Study

Author: Corinne Borderon, Julien Gautry, Evelyne Marinier, Dominique Caldari, Cécile Lambe, Béatrice Dubern, Thierry Lamireau, Emmanuel Mas, Anne Turquet, Amandine Rubio, Alain Dabadie, Aurélie Comte, Noël Peretti, Marie Edith Coste, D. Guimber, Marie Leonard, Maeva Kyheng, Frédéric Gottrand, Delphine Ley, Equipe Traitement de l'information en Biologie Santé (TIBS - LITIS), Laboratoire d'Informatique, de Traitement de l'Information et des Systèmes (LITIS), Institut national des sciences appliquées Rouen Normandie (INSA Rouen Normandie), Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)-Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Université Le Havre Normandie (ULH), Normandie Université (NU)-Institut national des sciences appliquées Rouen Normandie (INSA Rouen Normandie), Normandie Université (NU), Comité éducationnel et de pratique clinique de la SFNEP, 75749 Paris, CHU Toulouse, Hôpital des Enfants, Unité de Gastroentérologie, Hépatologie et Nutrition, Département de Pédiatrie, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), AZTI-Tecnalia (Marine Research Division), AZTI-Tecnalia, CHU Pontchaillou [Rennes], Université Le Havre Normandie (ULH), Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Institut National des Sciences Appliquées (INSA)-Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)-Université Le Havre Normandie (ULH), Institut National des Sciences Appliquées (INSA)-Normandie Université (NU)-Institut National des Sciences Appliquées (INSA), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Nestle Health Science, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Le Havre Normandie (ULH), and Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)
Subjects: Male, Pediatrics, medicine.medical_specialty, malabsorption, Cross-sectional study, [SDV]Life Sciences [q-bio], hydrolyzed whey proteins, malnutrition, LEHA, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Enteral Nutrition, 030225 pediatrics, Surveys and Questionnaires, medicine, Humans, Adverse effect, Child, Retrospective Studies, 2. Zero hunger, Food, Formulated, business.industry, Gastroenterology, Retrospective cohort study, Anthropometry, Home Care Services, 3. Good health, Parenteral nutrition, Cross-Sectional Studies, Treatment Outcome, Pediatrics, Perinatology and Child Health, Cohort, medium-chain triglycerides, 030211 gastroenterology & hepatology, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, France, business, Body mass index, Cohort study
Abstract: International audience; OBJECTIVES: The use of semielemental diets concerns a small proportion of children on enteral nutrition whose characteristics have never been reported. Our aim was to describe a cohort of patients on home enteral nutrition with Peptamen Junior, including the tolerance and nutritional efficacy of this product. METHODS: We performed a retrospective multicenter survey on a cohort of patients receiving this semielemental diet at home between 2010 and 2015 in 14 tertiary pediatric French centers. We recorded at baseline, 3, 6, and 12 months, and then every year the anthropometric characteristics of the patients, indications and modalities of administration of the diet, and the tolerance and adverse events. RESULTS: We recruited 136 patients ages 9.8 +/- 4.4 years at baseline. Mean body mass index z score was -1.0 +/- 1.8; mean height z score was -1.1 +/- 1.9. The main underlying diseases were digestive (35.3%), neurological (33.1%), and hematological (19.9%). The indications for a semielemental diet were failure of another diet in 70 patients (51.9%), severe malnutrition in 19 (14.1%), cystic fibrosis in 11 (8.1%), and switch from parenteral nutrition in 11 (8.1%). Side effects were observed in 39.2% of the patients, and required medical attention in 8.2%. Body mass index improved or remained normal in 88.3% of children. CONCLUSIONS: This semielemental diet seems to be well tolerated and efficient in the setting of home enteral nutrition in children with complex diseases featuring malabsorption and/or after failure of polymeric diet.
Published: 2019

13. Let's stop lesions induced by magnet ingestion

Author: Emmanuel Mas, Laurent Michaud, Jérôme Viala, 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), Unité de Gastroentérologie, Hépatologie, Nutrition, Diabétologie et Maladies Héréditaires du Métabolisme, Centre Hospitalier Universitaire de Toulouse, Centre Hospitalier Universitaire de Lille (CHU de Lille), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: medicine.medical_specialty, Gastrointestinal tract, [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, business.industry, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Ingestion, 030211 gastroenterology & hepatology, business, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2019

14. French Recommendations for Sugar Intake in Adults: A Novel Approach Chosen by ANSES

Author: Emmanuel Mas, Dalila Azzout-Marniche, Salwa W. Rizkalla, François Mariotti, Martine Champ, Luc Tappy, Mariette Gerber, Irène Margaritis, Sabine Houdart, Gérard Slama, Béatrice Morio, Université de Lausanne (UNIL), Hôpital Intercantonal de la Broye, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Physiologie de la Nutrition et du Comportement Alimentaire (PNCA), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Physiopathologie des Adaptations Nutritionnelles (PhAN), Université de Nantes (UN)-Institut National de la Recherche Agronomique (INRA), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES), CHU Toulouse, Hôpital des Enfants, Unité de Gastroentérologie, Hépatologie et Nutrition, Département de Pédiatrie, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Physiologie des Adaptations Nutritionnelles [UMR_A1280] (PhAN), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN), CRLCC Val d'Aurelle - Paul Lamarque-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU), CarMeN, laboratoire, Université de Lausanne = University of Lausanne (UNIL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Gastroentérologie, hépatologie nutrition, diabétologie et maladies héréditaires du métabolisme pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: dependent, obesity, Sucrose, [SDV]Life Sciences [q-bio], Physiology, Review, Type 2 diabetes, fatty, Nutrition Policy, chemistry.chemical_compound, 0302 clinical medicine, Dietary Sucrose, Risk Factors, 030212 general & internal medicine, Hyperuricemia, Nutrition and Dietetics, trials, Honey, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, non-communicable diseases, dietary guidelines, cardiovascular diseases, type 2 diabetes, non-alcoholic fatty liver disease, 3. Good health, controlled feeding, [SDV] Life Sciences [q-bio], Alimentation et Nutrition, randomized controlled-trial, France, lcsh:Nutrition. Foods and food supply, diabetes-mellitus, Adult, Cardiovascular Diseases/etiology, Diabetes Mellitus/etiology, Diet, Dietary Sucrose/administration & dosage, Dietary Sucrose/adverse effects, Dyslipidemias/etiology, Feeding Behavior, Fructose/administration & dosage, Fructose/adverse effects, Glucose/administration & dosage, Glucose/adverse effects, High Fructose Corn Syrup/administration & dosage, High Fructose Corn Syrup/adverse effects, Honey/adverse effects, Humans, Hyperuricemia/etiology, Non-alcoholic Fatty Liver Disease/etiology, Obesity/etiology, dose-response metaanalysis, 030209 endocrinology & metabolism, lcsh:TX341-641, Fructose, 03 medical and health sciences, Insulin resistance, Diabetes mellitus, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Diabetes Mellitus, medicine, healthy-young men, Food and Nutrition, insulin sensitivity, Sugar, Dyslipidemias, Nutrition & Dietetics, business.industry, nutritional and metabolic diseases, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, sweetened beverage consumption, Glucose, chemistry, liver-disease, business, coronary-heart-disease, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, High Fructose Corn Syrup, Dyslipidemia, Food Science, carbohydrate-induced thermogenesis
Abstract: International audience; This article presents a systematic review of the scientific evidence linking sugar consumption and health in the adult population performed by a group of experts, mandated by the French Agence nationale de securite sanitaire de l'alimentation, de l'environnement, et du travail (ANSES). A literature search was performed by crossing search terms for overweight/obesity, diabetes/insulin resistance, dyslipidemia/cardiovascular diseases, non-alcoholic fatty liver diseases (NAFLD), and uric acid concentrations on one hand and for intake of sugars on the other. Controlled mechanistic studies, prospective cohort studies, and randomized clinical trials were extracted and assessed. A literature analysis supported links between sugar intake and both total energy intake and body weight gain, and between sugar intake and blood triglycerides independently of total energy intake. The effects of sugar on blood triglycerides were shown to be mediated by the fructose component of sucrose and were observed with an intake of fructose \textgreater50 g/day. In addition, prospective cohort studies showed associations between sugar intake and the risk of diabetes/insulin resistance, cardiovascular diseases, NAFLD, and hyperuricemia. Based on these observations, ANSES proposed to set a maximum limit to the intake of total sugars containing fructose (sucrose, glucose-fructose syrups, honey or other syrups, and natural concentrates, etc.) of 100 g/day.
Published: 2018

15. Luminal contents from the gut of colicky infants induce visceral hypersensitivity in mice

Author: Julien Sauser, F. Foata, Sophie Yvon, Bernard Berger, Emmanuel Mas, Clara Lucia Garcia-Rodenas, Helene Eutamene, Emilie d'Aldebert, Gabriela Bergonzelli, V. Theodorou, Neuro-Gastroentérologie & Nutrition (ToxAlim-NGN), ToxAlim (ToxAlim), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole d'Ingénieurs de Purpan (INPT - EI Purpan), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA), Nutrition and Health Research, Groupe DANONE, Institut de Recherche en Santé Digestive (IRSD ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinical Development Unit, J. Uriach y Compañía, S.A, and CHU Toulouse [Toulouse]
Subjects: Male, 0301 basic medicine, medicine.medical_specialty, Colic, Visceral sensitivity, Colon, Physiology, medicine.medical_treatment, Fecal microbiota, [SDV]Life Sciences [q-bio], Gut flora, Gastroenterology, Infantile colic, Colorectal distension, Feces, Mice, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Animals, Humans, Protease, biology, Electromyography, Endocrine and Autonomic Systems, Crying, business.industry, Infant, Newborn, Area under the curve, Infant, Visceral Pain, biology.organism_classification, medicine.disease, Pathophysiology, Gastrointestinal Tract, Mice, Inbred C57BL, 030104 developmental biology, 030211 gastroenterology & hepatology, medicine.symptom, business, Dysbiosis
Abstract: International audience; Background: The pathophysiology of infantile colic is poorly understood, though various studies report gut microbiota dysbiosis in colicky infants. We aimed to test the hypothesis that colic-related dysbiosis is associated with visceral hypersensitivity triggered by an altered luminal milieu. Methods: Fecal samples from seven colicky and seven non-colicky infants were studied. Fecal supernatants (FS) were infused into the colons of C57/Bl6 mice (n=10/ specimen). Visceral sensitivity was subsequently assessed in the animals by recording their abdominal muscle response to colorectal distension (CRD) by electromyography (EMG). Serine and cysteine protease activities were assessed in FS with specific substrates. Infant fecal microbiota composition was analyzed by DNA extraction and 16S rRNA gene pyrosequencing. Key Results: FS from colicky infants triggered higher EMG activity than FS from non-colicky infants in response to both the largest CRD volumes and overall, as assessed by the area under the curve of the EMG across all CRD volumes. Infant crying time strongly correlated with mouse EMG activity. Microbiota richness and phylogenetic diversity were increased in the colicky group, without showing prominent microbial composition alterations. Only Bacteroides vulgatus and Bilophila wadsworthia were increased in the colicky group. Bacteroides vulgatus abundance positively correlated with visceral sensitivity. No differences were found in protease activities. Conclusions & Inferences: Luminal contents from colicky infants trigger visceral hypersensitivity, which may explain the excessive crying behavior of these infants. Additional studies are required to determine the nature of the compounds involved, their mechanism of action, and the potential implications of intestinal microbiota in their generation.
Published: 2017

16. Paecilomyces lilacinus et variotii dans la mucoviscidose

Author: Emmanuel Mas, Sylvain Blanchon, L. Tetu, A. Berry, M. Mittaine, G. Labouret, Alain Didier, X. Iriart, François Bremont, S. Cassaing, M. Murris, P. Vermersch, J. Fillaux, Pharmacochimie et Biologie pour le Développement (PHARMA-DEV), Institut de Recherche pour le Développement (IRD)-Institut de Chimie de Toulouse (ICT-FR 2599), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Institut de Chimie du CNRS (INC)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut de Chimie du CNRS (INC), Institut de Recherche pour le Développement (IRD)-Institut de Chimie de Toulouse (ICT), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), and Université de Toulouse (UT)
Subjects: Pulmonary and Respiratory Medicine, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, [SDV]Life Sciences [q-bio], Paecilomyces lilacinus, 030212 general & internal medicine, variotii, mucoviscidose, ComputingMilieux_MISCELLANEOUS, 3. Good health
Abstract: Objectif Paecilomyces lilacinus (PL) et variotii (PV) sont des champignons opportunistes emergents, non etudies dans la mucoviscidose. Methode Etude retrospective aux CRCM enfants et adultes de Toulouse sur les donnees informatisees du 01/01/2008 au 01/09/2014. Sont etudiees les caracteristiques des patients au 1 er isolement de Paecilomyces (P) dans l’expectoration, et leur evolutivite : VEMS et IMC en % de la norme, a 1 an et 2 ans avant et apres, et le type de colonisation bronchique chronique, intermittente ou ponctuelle. Resultat Sur cette periode sont realisees 3337 analyses microbiologiques de l’expectoration chez 98 enfants (de plus de 5 ans) et 164 adultes ; 39 (1,1 %) sont positifs pour P. Vingt patients ont au moins une fois du P : 2 colonisations chroniques (PL), 4 intermittentes (PL) et 14 ponctuelles (12 PL, 2 PV). Au 1 er isolement, l’âge median est de 13 ans (9 a 36), le VEMS median de 82 % (28 a 112) et le BMI median de 94 % (79 a 113). Tous sont colonises a Pseudomonas aeruginosa , 17 a S. aureus , et 14 a Aspergillus . La charge therapeutique semble elevee : l’annee precedente, 11 (55 %) ont de l’itraconazole, 13 une corticotherapie (12 inhalees, 1 par voie orale), 14 de l’azithromycine, 10 une antibiotherapie inhalee, 10 des ATB IV. Le profil des patients selon le type de colonisation ne differe pas, hormis l’itraconazole prescrit chez 100 % des patients chroniques et intermittents (vs 35 % chez les colonises ponctuels). P ne semble pas influencer l’evolutivite : VEMS et BMI restent stables. Conclusion P semble peu pathogene, mais survient chez des patients avec une charge therapeutique elevee. La sensibilite diminuee de P a l’itraconazole peut evoquer une pression de selection par ce traitement.
Published: 2015

17. Evaluation of Serum Lipase as Predictor of Severity of Acute Pancreatitis in Children

Author: Jacques Sarles, Jean Gaudart, Emmanuel Mas, Alexandre Fabre, J.P. Olive, Ophélie Boulogne, Gaudart, Jean, Lab Physiol Anim, Univ Ouagadougou, UFR SVT, Aix Marseille Université (AMU), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Centre d'étude spatiale des rayonnements (CESR), Observatoire Midi-Pyrénées (OMP), Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Toulouse III - Paul Sabatier (UT3), and Université Fédérale Toulouse Midi-Pyrénées
Subjects: Male, medicine.medical_specialty, [MATH.MATH-PR] Mathematics [math]/Probability [math.PR], [MATH.MATH-DS]Mathematics [math]/Dynamical Systems [math.DS], [MATH.MATH-DS] Mathematics [math]/Dynamical Systems [math.DS], macromolecular substances, Gastroenterology, [STAT.AP] Statistics [stat]/Applications [stat.AP], [MATH.MATH-ST]Mathematics [math]/Statistics [math.ST], [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Internal medicine, medicine, Serum lipase, Humans, [SDV.EE.SANT] Life Sciences [q-bio]/Ecology, environment/Health, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, [MATH.MATH-ST] Mathematics [math]/Statistics [math.ST], [SDV.MHEP.ME] Life Sciences [q-bio]/Human health and pathology/Emerging diseases, [SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, [STAT.AP]Statistics [stat]/Applications [stat.AP], [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, [STAT.ME] Statistics [stat]/Methodology [stat.ME], business.industry, musculoskeletal, neural, and ocular physiology, Lipase, medicine.disease, [SDE.ES]Environmental Sciences/Environmental and Society, 3. Good health, [MATH.MATH-PR]Mathematics [math]/Probability [math.PR], Pancreatitis, nervous system, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Pediatrics, Perinatology and Child Health, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Acute pancreatitis, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SDE.ES] Environmental Sciences/Environmental and Society, business, [STAT.ME]Statistics [stat]/Methodology [stat.ME], [SDV.MP.PAR] Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology
Abstract: International audience; Evaluation of serum lipase as predictor of severity of acute pancreatitis in children. [J Pediatr Gastroenterol Nutr. 2014]Serum lipase as an early predictor of severity in pediatric acute pancreatitis.
Published: 2014

18. Antioxidant Potential is Correlated to ω6 / ω3 Ratio and Brasfield Score in Cystic Fibrosis Children

Author: Julien Mancini, Jean Gaudart, Jésus Garcia, J.-L. Rittié, Emmanuel Mas, M. Mittaine, F. Brémont, Sylvie Caspar-Bauguil, Alexandre Fabre, Gaudart, Jean, Lab Physiol Anim, Univ Ouagadougou, UFR SVT, Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Pneumologie Allergologie Pédiatrique et Mucoviscidose, Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], Service Pneumologie et allergologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Pédiatrie - Pneumologie, Allergologie, Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], and Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, [MATH.MATH-PR] Mathematics [math]/Probability [math.PR], Erythrocytes, Antioxidant, Multivariate analysis, Cystic Fibrosis, Exacerbation, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Medicine (miscellaneous), medicine.disease_cause, Gastroenterology, Cystic fibrosis, Antioxidants, Pulmonary function testing, 0302 clinical medicine, [STAT.AP] Statistics [stat]/Applications [stat.AP], [MATH.MATH-ST]Mathematics [math]/Statistics [math.ST], [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, 030212 general & internal medicine, Child, [MATH.MATH-ST] Mathematics [math]/Statistics [math.ST], [SDV.MHEP.ME] Life Sciences [q-bio]/Human health and pathology/Emerging diseases, [STAT.AP]Statistics [stat]/Applications [stat.AP], [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Nutrition and Dietetics, [STAT.ME] Statistics [stat]/Methodology [stat.ME], Anthropometry, Chemistry, General Medicine, Micronutrient, Respiratory Function Tests, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Biomarker (medicine), Female, [STAT.ME]Statistics [stat]/Methodology [stat.ME], [SDV.MP.PAR] Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, medicine.medical_specialty, Adolescent, [MATH.MATH-DS]Mathematics [math]/Dynamical Systems [math.DS], Nutritional Status, [MATH.MATH-DS] Mathematics [math]/Dynamical Systems [math.DS], 03 medical and health sciences, Sex Factors, Fatty Acids, Omega-6, Internal medicine, Fatty Acids, Omega-3, medicine, Humans, [SDV.EE.SANT] Life Sciences [q-bio]/Ecology, environment/Health, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Retrospective Studies, [SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, medicine.disease, [SDE.ES]Environmental Sciences/Environmental and Society, [MATH.MATH-PR]Mathematics [math]/Probability [math.PR], Oxidative Stress, 030228 respiratory system, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Immunology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SDE.ES] Environmental Sciences/Environmental and Society, Biomarkers, Oxidative stress
Abstract: Objectives: Oxidative stress is associated with the condition of cystic fibrosis (CF), but no guidelines exist for its assessment or treatment. Our aim was to evaluate a test that measures the blood antioxidant capability in CF children. Methods: This antioxidant capability was assessed by the Kit Radicaux Libres (KRL) test in 44 CF children (24 boys). We recorded also anthropometric measures, pulmonary function, CF severity scores, and plasma nutritional and inflammatory parameters (proteins, vitamins, erythrocyte fatty acids, and micronutrients). We performed univariate and multivariate analyses with linear regression models. Results: The mean age at the first KRL assessment was 12.2 ± 3.8 years. Factors that correlated with decreased antioxidant capacity were mostly related to the severity of pulmonary disease [ forced expiratory volume at 1 second (FEV1), acute exacerbation, and congestion. In multivariate analysis, the correlation between Brasfield score and erythrocyte antioxidant potential remained significant (β = - 0.611, p < 0.001). Among nutritional factors, the ω6/ω3 ratio was significantly correlated to erythrocyte antioxidant potential (β = - 1.213, p = 0.01). Conclusion: The blood antioxidant capability, measured by the KRL test, appears to be an interesting biomarker to evaluate oxidative stress in CF. This study suggests that the ω6/ω3 ratio should be regarded as a nutritional marker in antioxidant management in CF children.
Published: 2013

19. A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein

Author: Véronique Pons, Emmanuel Mas, François Tercé, Gérald Gaibelet, Anne Durandy, Corinne Rolland, Michel Nauze, Emile Levy, Agnès Sassolas, Marie Danjoux, Xavier Collet, Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Physiopathologie Toulouse Purpan ex IFR 30 et IFR 150 (CPTP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Service d'anatomie et cytologie pathologiques [Purpan], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Départements de Nutrition et de Biochimie, Hôpital Sainte-Justine et Université de Montréal, CHU Toulouse, Hôpital des Enfants, Unité de Gastroentérologie, Hépatologie et Nutrition, Département de Pédiatrie, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Institut des Maladies Métaboliques et Cardiovasculaires ( I2MC ), Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Hôpital de Rangueil, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre de Physiopathologie de Toulouse Purpan ( CPTP ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Cardiovasculaire, métabolisme, diabétologie et nutrition ( CarMeN ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Hospices Civils de Lyon ( HCL ) -Institut National des Sciences Appliquées de Lyon ( INSA Lyon ), Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Institut National de la Recherche Agronomique ( INRA ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Centre de Physiopathologie Toulouse Purpan (CPTP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), INSERM, ANR, Contract grant number: PNRA-2006 ABSINTE, Contract grant sponsor: Canadian Institutes of Health Research, Contract grant number: MOP 10584 (to E.L.), Fellowship from Fondation pour la Recherche Me´ dicale (to V.P. and E.M.), Young Researcher with Temporary Contract From INSERM (to V.P.), and ‘‘Contrat d’Interface’’ from CHU of Toulouse (to X.C.).
Subjects: Male, [SDV]Life Sciences [q-bio], Molecular Sequence Data, Protein Disulfide-Isomerases, 030204 cardiovascular system & hematology, Biology, Endoplasmic Reticulum, Compound heterozygosity, Microsomal triglyceride transfer protein, Frameshift mutation, 03 medical and health sciences, Exon, 0302 clinical medicine, Agammaglobulinemia, Microsomes, Genetics, medicine, Humans, Amino Acid Sequence, Child, Protein disulfide-isomerase, Triglycerides, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Endoplasmic reticulum, Infant, Abetalipoproteinemia, Life Sciences, Exons, Hep G2 Cells, medicine.disease, Molecular biology, 3. Good health, Alternative Splicing, Biochemistry, Mutation, RNA splicing, biology.protein, Female, Carrier Proteins, HeLa Cells, Protein Binding
Abstract: International audience; Abetalipoproteinemia is a rare autosomal recessive disease characterized by low lipid levels and by the absence of apoB-containing lipoproteins. It is the consequence of microsomal triglyceride transfer protein (MTTP) deficiency. We report 2 patients with new MTTP mutations. We studied their functional consequences on the triglyceride transfer function using duodenal biopsies. We transfected MTTP mutants in HepG2 and HeLa cells to investigate their association with protein disulfide isomerase (PDI) and their localization at the endoplasmic reticulum. These children have a severe abetalipoproteinemia. Both of them had also a mild hypogammaglobulinemia. They are compound heterozygotes with c.619G>T and c.1237-28A>G mutations within MTTP gene. mRNA analysis revealed abnormal splicing with deletion of exon 6 and 10, respectively. Deletion of exon 6 (Δ6-MTTP) introduced a frame shift in the reading frame and a premature stop codon at position 234. Despite Δ6-MTTP and Δ10-MTTP mutants were not capable of binding PDI, both MTTP mutant proteins normally localize at the endoplasmic reticulum. However, these two mutations induce a loss of MTTP triglyceride transfer activity. These two mutations lead to abnormal truncated MTTP proteins, incapable of binding PDI and responsible for the loss of function of MTTP, thereby explaining the severe abetalipoproteinemia phenotype of these children.
Published: 2011

20. IL-6 deficiency attenuates murine diet-induced non-alcoholic steatohepatitis

Author: Stéphane Carpentier, Thierry Levade, Emmanuel Mas, Marie Danjoux, Bruno Ségui, Virginie Garcia, Simon, Marie Francoise, Institut de médecine moléculaire de Rangueil (I2MR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées- Institut Fédératif de Recherche Bio-médicale Institution (IFR150)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Gastroentérologie, hépatologie nutrition, diabétologie et maladies héréditaires du métabolisme pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service Anatomie et cytologie pathologiques [CHU Toulouse], Pôle Biologie [CHU Toulouse], Laboratoire de Biochimie [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and This work was supported by grants from INSERM and Université Paul Sabatier. E.M. was the recipient of a fellowship from the Société Française de Pédiatrie.
Subjects: Male, medicine.medical_specialty, medicine.medical_treatment, lcsh:Medicine, Inflammation, Apoptosis, Mice, Transgenic, Gastroenterology and Hepatology/Hepatology, Choline, chemistry.chemical_compound, Liver disease, Mice, Methionine, Internal medicine, Nutrition/Obesity, medicine, Animals, Chemistry/Biochemistry, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], lcsh:Science, Multidisciplinary, Chemistry, Interleukin-6, lcsh:R, Fatty liver, medicine.disease, Animal Feed, Fatty Liver, Mice, Inbred C57BL, PPAR gamma, Disease Models, Animal, Cytokine, Endocrinology, Liver, Immunology, lcsh:Q, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Lipid Peroxidation, Steatosis, Steatohepatitis, medicine.symptom, Research Article
Abstract: International audience; BACKGROUND: The role of inflammation in the pathogenesis of non-alcoholic steatohepatitis (NASH), a common cause of liver disease, is still poorly understood. This study aimed at assessing the involvement of a major inflammatory cytokine, IL-6, in NASH. MATERIALS AND METHODS: Steatohepatitis was induced by feeding wild-type or IL-6(-/-) mice for 5 weeks with a methionine and choline-deficient (MCD) diet. RESULTS: Whereas MCD diet-induced weight loss and decreases in serum glucose, cholesterol and triglyceride levels were similar in both genotypes, serum alanine aminotransferase was less elevated in IL-6(-/-) mice than in wild-type animals. Despite having a comparable liver steatosis score, IL-6-deficient mice exhibited less lobular inflammation than their wild-type littermates. Liver gene expression of TGF-beta and MCP-1 was also strongly attenuated in mutant mice; a more modest reduction was observed for PPAR-gamma and F4/80 transcripts as well as proteins. Chromatographic analysis of liver lipids demonstrated that MCD diet induced in normal and mutant mice a similar decrease in the ratio of phosphatidylcholine to phosphatidylethanolamine. However, the diet-induced increase in the levels of sphingomyelin and ceramide was less important in IL-6(-/-) mice. CONCLUSION: Altogether, these results indicate that IL-6 deficiency does not block the development of NASH; yet, IL-6 plays a critical role in the accompanying liver inflammation.
Published: 2009

21. Thrombotic microangiopathy in a child with acute pancreatitis

Author: Emmanuel Mas, J. P. Olives, Christine Azéma, Anne Breton, Emmanuelle Fournié-Gardini, Pierre Broué, Stéphane Decramer, Service de Pédiatrie - Gastro-entérologie, Hépatologie, Nutrition, Diabétologie, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Pédiatrie - Néphrologie, Médecine interne, Hypertension, and Simon, Marie Francoise
Subjects: Male, medicine.medical_specialty, Pathology, Pancreatic disease, Thrombotic microangiopathy, Gastroenterology, Microcirculation, Internal medicine, MESH: Child, MESH: Microcirculation, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Thrombosis, Child, ComputingMilieux_MISCELLANEOUS, MESH: Humans, business.industry, Vascular disease, Thrombosis, medicine.disease, MESH: Male, MESH: Pancreatitis, Pancreatitis, Acute Disease, Pediatrics, Perinatology and Child Health, Acute pancreatitis, MESH: Acute Disease, business
Abstract: International audience
Published: 2007

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21 results on '"Emmanuel Mas"'

1. Multi-Omics Analysis of Gut Microbiota in Inflammatory Bowel Diseases: What Benefits for Diagnostic, Prognostic and Therapeutic Tools?

2. Drugs in Focus: Octreotide Use in Children With Gastrointestinal Disorders

3. Diagnosis, Management, and Prevention of Button Battery Ingestion in Childhood: A European Society for Paediatric Gastroenterology Hepatology and Nutrition Position Paper

4. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

5. Diagnosing undernutrition children and adults: new French criteria. Why, for what and for whom? A joint statement of the French National Authority for Health and French Federation of Nutrition

6. Cytolethal Distending Toxin Promotes Replicative Stress Leading to Genetic Instability Transmitted to Daughter Cells

7. How Can a Polymeric Formula Induce Remission in Crohn’s Disease Patients ?

8. Epithelial production of elastase is increased in inflammatory bowel disease and causes mucosal inflammation

9. Colitis Linked to Endoplasmic Reticulum Stress Induces Trypsin Activity Affecting Epithelial Functions

10. Characterization of Human Colon Organoids From Inflammatory Bowel Disease Patients

11. Sustainable positive response to sirolimus in juvenile polyposis of infancy

12. Experience of Using a Semielemental Formula for Home Enteral Nutrition in Children: A Multicenter Cross-sectional Study

13. Let's stop lesions induced by magnet ingestion

14. French Recommendations for Sugar Intake in Adults: A Novel Approach Chosen by ANSES

15. Luminal contents from the gut of colicky infants induce visceral hypersensitivity in mice

16. Paecilomyces lilacinus et variotii dans la mucoviscidose

17. Evaluation of Serum Lipase as Predictor of Severity of Acute Pancreatitis in Children

18. Antioxidant Potential is Correlated to ω6 / ω3 Ratio and Brasfield Score in Cystic Fibrosis Children

19. A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein

20. IL-6 deficiency attenuates murine diet-induced non-alcoholic steatohepatitis

21. Thrombotic microangiopathy in a child with acute pancreatitis

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