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3. Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France

Author

Bertocchio, Jean-Philippe, Grosset, Natalie, Groussin, Lionel, Kamenicky, Peter, Larceneux, Fabrice, Lienhardt-Roussie, Anne, Linglart, Agnès, Maruani, Gérard, Miralli, Eric, Pattou, François, Seervai, Riyad N.H., Sido, Coralie, Silve, Caroline, Vilfaillot, Aurélie, Tabarin, Antoine, Vantyghem, Marie-Christine, Houillier, Pascal, Beaume, Julie, Figueres, Lucile, Bobot, Mickaël, Laforcade, Louis, ayari, hamza, Dolley‐Hitze, Thibault, Gueutin, Victor, Braconnier, Antoine, Golbin, Léonard, Citarda, Salvatore, Seret, Guillaume, Belaïd, Lisa, Cohen, Raphaël, Luque, Yosu, Seervai, Riyad, Overs, Camille, Bertocchio, Jean‐Philippe, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre de Référence des Maladies Rares du Métabolisme du Phosphore et du Calcium and Filière de Santé Maladies Rares (OSCAR), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Hypoparathyroïdisme France, Hôpital Cochin [AP-HP], Physiologie et physiopathologie endocriniennes (PHYSENDO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Dauphine Recherches en Management (DRM), Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Hôpital Dupuytren [CHU Limoges], Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut des Maladies de l'Appareil Digestif, Université de Nantes (UN), Recherche translationnelle sur le diabète - U 1190 (RTD), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Baylor College of Medicine (BCM), Baylor University, Thérapie génique, Génomique et Epigénomique (U 1169), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, CHU Bordeaux [Bordeaux], École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), Physiologie et physiopathologie endocriniennes, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Université Paris sciences et lettres (PSL), and HAL-SU, Gestionnaire

Subjects
[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, physicians, Endocrinology, Diabetes and Metabolism, hypoparathyroidism, practice patterns, 030209 endocrinology & metabolism, hypocalcemia, RC648-665, Diseases of the endocrine glands. Clinical endocrinology, 3. Good health, [SHS]Humanities and Social Sciences, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, [SHS.ENVIR]Humanities and Social Sciences/Environmental studies, epidemiological studies, Internal Medicine, [SHS.GESTION]Humanities and Social Sciences/Business administration, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Context Recent guidelines have provided recommendations for the care of patients with chronic hypoparathyroidism. Very little is known about actual physicians’ practices or their adherence to such guidelines. Objective To describe the physicians’ practice patterns and their compliance with international guidelines. Design The cohort studies included were Épi-Hypo (118 physicians and 107 patients, from September 2016 to December 2019) and ePatients (110 patients, November 2019). Methods Internet-based cohorts involving all settings at a nationwide level (France). Participants were (i) physicians treating patients with chronic hypoparathyroidism and patients with chronic hypoparathyroidism either participating in the (ii) Épi-Hypo study (Épi-Hypo 2019 patients), or (iii) Hypoparathyroidism France, the national representative association (ePatients). Results The physicians’ specialties were mainly endocrinology (61%), nephrology (28%), family medicine (2.5%), pediatrics (2.5%), rheumatology (2%), or miscellaneous (4%) and 45% were practicing in public universities. The median number of pharmaceutical drug classes prescribed was three per patient. The combination of active vitamin D and calcium salt was given to 59 and 58% of ePatients and Épi-Hypo 2019 patients, respectively. Eighty-five percent of ePatients and 87% of physicians reported monitoring plasma calcium concentrations at a steady state at least twice a year. In 32 and 26% of cases, respectively, ePatients and physicians reported being fully in accordance with international guidelines that recommend targeting symptoms, plasma calcium and phosphate values, and urine calcium excretion. Conclusions The care of patients with chronic hypoparathyroidism involves physicians with very different practices, so guidelines should include and target other specialists as well as endocrinologists. Full adherence to the guidelines is low in France.

Published
2021

4. Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France

Author

Bertocchio, Jean-Philippe, primary, Grosset, Natalie, additional, Groussin, Lionel, additional, Kamenický, Peter, additional, Larceneux, Fabrice, additional, Lienhardt-Roussie, Anne, additional, Linglart, Agnès, additional, Maruani, Gérard, additional, Mirallie, Eric, additional, Pattou, François, additional, Seervai, Riyad N H, additional, Sido, Coralie, additional, Silve, Caroline, additional, Vilfaillot, Aurélie, additional, Tabarin, Antoine, additional, Vantyghem, Marie-Christine, additional, Houillier, Pascal, additional, and _, _, additional

Published
2022
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5. Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population

Author

El Allali, Yasmine, primary, Hermetet, Coralie, additional, Bacchetta, Justine, additional, Amouroux, Cyril, additional, Rothenbuhler, Anya, additional, Porquet-Bordes, Valérie, additional, Champigny, Marie-Alexandrine, additional, Baron, Sabine, additional, Barat, Pascal, additional, Bony-Trifunovic, Hélène, additional, Bourdet, Karine, additional, Busiah, Kanetee, additional, Cartigny-Maciejewski, Maryse, additional, Compain, Florence, additional, Coutant, Régis, additional, Amsellem-Jager, Jessica, additional, De Kerdanet, Marc, additional, Magontier, Nathalie, additional, Mignot, Brigitte, additional, Richard, Odile, additional, Rossignol, Sylvie, additional, Soskin, Sylvie, additional, Berot, Aurélie, additional, Naud-Saudreau, Catherine, additional, Salles, Jean-Pierre, additional, Linglart, Agnès, additional, Edouard, Thomas, additional, and Lienhardt-Roussie, Anne, additional

Published
2021
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6. Vision de l'obésité pédiatrique par les médecins généralistes

Author

Guibert, H, Lienhardt-Roussie, Anne, Fayemendy, Philippe, Morin, B., Voisin, A., Thibault, H., Desport, Jean-Claude, Jésus, Pierre, Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Service d'Hépato-Gastro-Entérologie et Nutrition [CHU Limoges], Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), and Grelier, Elisabeth

Subjects
[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2019

7. Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series

Author

Flot, Claire, primary, Porquet-Bordes, Valérie, additional, Bacchetta, Justine, additional, Rothenbuhler, Anya, additional, Lienhardt-Roussie, Anne, additional, Giabicani, Eloise, additional, Gueorguieva, Iva, additional, Storey, Caroline, additional, Linglart, Agnès, additional, Salles, Jean-Pierre, additional, and Edouard, Thomas, additional

Published
2020
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8. A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

Author

Sarfati, Julie, Guiochon-Mantel, Anne, Rondard, Philippe, Arnulf, Isabelle, Garcia-Piñero, Alfons, Wolczynski, Slawomir, Brailly-Tabard, Sylvie, Bidet, Maud, Ramos-Arroyo, Maria, Mathieu, Michèle, Lienhardt-Roussie, Anne, Morgan, Graeme, Turki, Zinet, Bremont, Catherine, Lespinasse, James, Du Boullay, Hélène, Chabbert-Buffet, Nathalie, Jacquemont, Sébastien, Reach, Gérard, De Talence, Nicole, Tonella, Paolo, Conrad, Bernard, Despert, Francois, Delobel, Bruno, Brue, Thierry, Bouvattier, Claire, Cabrol, Sylvie, Pugeat, Michel, Murat, Arnaud, Bouchard, Philippe, Hardelin, Jean-Pierre, Dodé, Catherine, and Young, Jacques

Published
2010

9. Management and screening of childhood obesity : practices and expectations of general practitioners and liberal pediatricians

Author

Guibert, H., Lienhardt-Roussie, Anne, Fayemendy, Philippe, Morin, B., Voisin, A., Thibault, A., Desport, Jean-Claude, Jésus, Pierre, Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service d'Hépato-Gastro-Entérologie et Nutrition [CHU Limoges], and Grelier, Elisabeth

Subjects
[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2019

11. Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

Author

Abi Habib, Walid, primary, Brioude, Frédéric, additional, Edouard, Thomas, additional, Bennett, James T., additional, Lienhardt-Roussie, Anne, additional, Tixier, Frédérique, additional, Salem, Jennifer, additional, Yuen, Tony, additional, Azzi, Salah, additional, Le Bouc, Yves, additional, Harbison, Madeleine D., additional, and Netchine, Irène, additional

Published
2018
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13. Additional file 1: of Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case–control study

Author

F. Balazard, S. Le Fur, S. Valtat, A. Valleron, P. Bougnères, Thevenieau, Dominique, Chatel, Corinne, Desailloud, Rachel, Bony-Trifunovic, Hélène, Pierre-Henri Ducluzeau, Coutant, Régis, Caudrelier, Sophie, Pambou, Armelle, Dubosclard, Emmanuelle, Joubert, Florence, Jan, Philippe, Marcoux, Estelle, Bertrand, Anne-Marie, Mignot, Brigitte, Penformis, Alfred, Stuckens, Chantal, Piquemal, Régis, Barat, Pascal, Rigalleau, Vincent, Stheneur, Chantal, Fournier, Sylviane, Kerlan, Véronique, Metz, Chantal, Fargeot-Espaliat, Anne, Reznic, Yves, Olivier, Frédérique, Gueorguieva, Iva, Monier, Arnaud, Radet, Catherine, Gajdos, Vincent, Terral, Daniel, Vervel, Christine, Bendifallah, Djamel, Signor, Candace, Dervaux, Daniel, Abdelkader Benmahammed, Guy-André Loeuille, Popelard, Françoise, Guillou, Agnès, Pierre-Yves Benhamou, Khoury, Jamil, Brossier, Jean-Pierre, Bassil, Joachim, Clavel, Sylvaine, Luyer, Bernard Le, Bougnères, Pierre, Labay, Françoise, Guemas, Isabelle, Weill, Jacques, Cappoen, Jean-Pierre, Nadalon, Sylvie, Lienhardt-Roussie, Anne, Paoli, Anne, Kerouedan, Claudie, Yollin, Edwige, Nicolino, Marc, Simonin, Gilbert, Cohen, Jacques, Atlan, Catherine, Tamboura, Agnès, Dubourg, Hervé, Marie-Laure Pignol, Talon, Philippe, Jellimann, Stéphanie, Chaillous, Lucy, Baron, Sabine, Marie-Noëlle Bortoluzzi, Baechler, Elisabeth, Salet, Randa, Zelinsky-Gurung, Ariane, Dallavale, Fabienne, Larger, Etienne, Laloi-Michelin, Marie, Jean-François Gautier, Guérin, Bénédicte, Oilleau, Laure, Pantalone, Laetitia, Lukas, Céline, Guilhem, Isabelle, Kerdanet, Marc De, Marie-Claire Wielickzo, Priou-Guesdon, Mélanie, Richard, Odile, Kurtz, François, Laisney, Norbert, Ancelle, Déborah, Parlier, Guilhem, Boniface, Catherine, Bockel, Dominique, Dufillot, Denis, Razafimahefa, Berthe, Gourdy, Pierre, Lecomte, Pierre, Pepin-Donat, Myriam, Marie-Emmanuelle Combes-Moukhovsky, Zymmermann, Brigitte, Raoulx, Marina, and Dumont, Anne

Abstract

The questionnaire used in the current study. (PDF 620 kb)

Published
2016
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14. Additional file 3: of Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case–control study

Author

F. Balazard, S. Le Fur, S. Valtat, A. Valleron, P. Bougnères, Thevenieau, Dominique, Chatel, Corinne, Desailloud, Rachel, Bony-Trifunovic, Hélène, Pierre-Henri Ducluzeau, Coutant, Régis, Caudrelier, Sophie, Pambou, Armelle, Dubosclard, Emmanuelle, Joubert, Florence, Jan, Philippe, Marcoux, Estelle, Bertrand, Anne-Marie, Mignot, Brigitte, Penformis, Alfred, Stuckens, Chantal, Piquemal, Régis, Barat, Pascal, Rigalleau, Vincent, Stheneur, Chantal, Fournier, Sylviane, Kerlan, Véronique, Metz, Chantal, Fargeot-Espaliat, Anne, Reznic, Yves, Olivier, Frédérique, Gueorguieva, Iva, Monier, Arnaud, Radet, Catherine, Gajdos, Vincent, Terral, Daniel, Vervel, Christine, Bendifallah, Djamel, Signor, Candace, Dervaux, Daniel, Abdelkader Benmahammed, Guy-André Loeuille, Popelard, Françoise, Guillou, Agnès, Pierre-Yves Benhamou, Khoury, Jamil, Brossier, Jean-Pierre, Bassil, Joachim, Clavel, Sylvaine, Luyer, Bernard Le, Bougnères, Pierre, Labay, Françoise, Guemas, Isabelle, Weill, Jacques, Cappoen, Jean-Pierre, Nadalon, Sylvie, Lienhardt-Roussie, Anne, Paoli, Anne, Kerouedan, Claudie, Yollin, Edwige, Nicolino, Marc, Simonin, Gilbert, Cohen, Jacques, Atlan, Catherine, Tamboura, Agnès, Dubourg, Hervé, Marie-Laure Pignol, Talon, Philippe, Jellimann, Stéphanie, Chaillous, Lucy, Baron, Sabine, Marie-Noëlle Bortoluzzi, Baechler, Elisabeth, Salet, Randa, Zelinsky-Gurung, Ariane, Dallavale, Fabienne, Larger, Etienne, Laloi-Michelin, Marie, Jean-François Gautier, Guérin, Bénédicte, Oilleau, Laure, Pantalone, Laetitia, Lukas, Céline, Guilhem, Isabelle, Kerdanet, Marc De, Marie-Claire Wielickzo, Priou-Guesdon, Mélanie, Richard, Odile, Kurtz, François, Laisney, Norbert, Ancelle, Déborah, Parlier, Guilhem, Boniface, Catherine, Bockel, Dominique, Dufillot, Denis, Razafimahefa, Berthe, Gourdy, Pierre, Lecomte, Pierre, Pepin-Donat, Myriam, Marie-Emmanuelle Combes-Moukhovsky, Zymmermann, Brigitte, Raoulx, Marina, and Dumont, Anne

Abstract

Additional analysis supporting the exclusion for primary school mistake and exploring further age-related bias. (PDF 5474 kb)

Published
2016
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17. [Reflections on academic appointments in pediatrics] : Réflexions sur le recrutement des universitaires en pédiatrie

Author

Sarles, Jacques, Aujard, Y., Bensman, A., Blanche, S., Clément, Annick, Cochat, P., Dalle, J.-H., Entz-Werlé, N., Gressens, P., Labbé, A., Legall, E., Lienhardt-Roussie, Anne, Mallet, E., Motte, J., Tardieu, M., Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Robert Debré Paris, Hôpital Robert Debré, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Hôpital de Hautepierre [Strasbourg], Hôpital Hôtel-Dieu de Clermont-Ferrand, CHU Clermont-Ferrand, Hôpital Sud, CHU Pontchaillou [Rennes], Equipe de Recherche Médicale Appliquée (ERMA), Université de Limoges (UNILIM)-CHU Limoges-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Hôpital Américain, Centre Hospitalier Universitaire de Reims (CHU Reims), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), AP-HP Hôpital Necker - Enfants Malades [Paris], Hôpital Femme Mère Enfant [Bron], Hôpital Hautepierre, CHU Strasbourg, Hôpital de l'Hôtel-Dieu, Université de Limoges (UNILIM) - CHU Limoges - Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Département de pédiatrie, Hôpital Charles Nicolle - CHU Rouen, CHU Reims, Hôpital du Kremlin-Bicêtre, and Assistance publique - Hôpitaux de Paris (AP-HP)

Subjects
MESH: France, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, MESH: Research, MESH: Humans, MESH: Career Choice, MESH: Schools, Medical, MESH: Child, MESH: Faculty, Medical, MESH: Pediatrics, MESH: Personnel Selection, MESH: Career Mobility, MESH: Publishing
Abstract

ERMA; International audience

Published
2010

18. MENINGITES ET ENCEPHALITES A ENTEROVIRUS dIAGNOSTIQUEES AU CHU DE LIMOGES : 2005- 2006

Author

Ranger-Rogez, Sylvie, Ribière, G., Ducroix-Roubertou, Sophie, Lienhardt-Roussie, Anne, Vallat, Jean-Michel, Denis, François, Weinbreck, Pierre, Merigaud, Françoise, Service de Bactériologie, Virologie, Hygiène [CHU Limoges], CHU Limoges, Service des Maladies infectieuses et tropicales [CHU Limoges], Service de Pédiatrie médicale [CHU Limoges], Equipe de Recherche Médicale Appliquée (ERMA), Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Université de Limoges (UNILIM)-CHU Limoges, Service de Neurologie [CHU Limoges], Centre de référence national neuropathies périphériques rares [CHU Limoges], and Université de Limoges (UNILIM)

Subjects
[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

ERMA

Published
2008

19. Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity

Author

Lia-Baldini, Anne-Sophie, primary, Magdelaine, Corinne, additional, Nizou, Angélique, additional, Airault, Coraline, additional, Salles, Jean-Pierre, additional, Moulin, Pierre, additional, Delemer, Brigitte, additional, Aitouares, Mina, additional, Funalot, Benoît, additional, Sturtz, Franck, additional, and Lienhardt-Roussie, Anne, additional

Published
2013
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20. Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Author

Dodé, Catherine, primary, Teixeira, Luis, additional, Levilliers, Jacqueline, additional, Fouveaut, Corinne, additional, Bouchard, Philippe, additional, Kottler, Marie-Laure, additional, Lespinasse, James, additional, Lienhardt-Roussie, Anne, additional, Mathieu, Michèle, additional, Moerman, Alexandre, additional, Morgan, Graeme, additional, Murat, Arnaud, additional, Toublanc, Jean-Edmont, additional, Wolczynski, Slawomir, additional, Delpech, Marc, additional, Petit, Christine, additional, Young, Jacques, additional, and Hardelin, Jean-Pierre, additional

Published
2006
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21. Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Author

Dodé, Catherine, primary, Teixeira, Luis, additional, Levilliers, Jacqueline, additional, Fouveaut, Corinne, additional, Bouchard, Philippe, additional, Kottler, Marie-Laure, additional, Lespinasse, James, additional, Lienhardt-Roussie, Anne, additional, Mathieu, Michèle, additional, Moerman, Alexandre, additional, Morgan, Graeme, additional, Murat, Arnaud, additional, Toublanc, Jean-Edmont, additional, Wolczynski, Slawomir, additional, Delpech, Marc, additional, Petit, Christine, additional, Young, Jacques, additional, and Hardelin, Jean-Pierre, additional

Published
2005
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22. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Author

Crisponi, Laura, primary, Deiana, Manila, additional, Loi, Angela, additional, Chiappe, Francesca, additional, Uda, Manuela, additional, Amati, Patrizia, additional, Bisceglia, Luigi, additional, Zelante, Leopoldo, additional, Nagaraja, Ramaiah, additional, Porcu, Susanna, additional, Serafina Ristaldi, M., additional, Marzella, Rosalia, additional, Rocchi, Mariano, additional, Nicolino, Marc, additional, Lienhardt-Roussie, Anne, additional, Nivelon, Annie, additional, Verloes, Alain, additional, Schlessinger, David, additional, Gasparini, Paolo, additional, Bonneau, Dominique, additional, Cao, Antonio, additional, and Pilia, Giuseppe, additional

Published
2001
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23. P450 Oxidoreductase Deficiency: loss of activity caused by protein instability from a novel L374H mutation

Author

Parween, Shaheena, Boulez, Florence Roucher, Flück Pandey, Christa Emma, Lienhardt-Roussie, Anne, Mallet, Delphine, Morel, Yves, and Pandey, Amit Vikram

Subjects
570 Life sciences, biology, 610 Medicine & health, 3. Good health
Abstract

CONTEXT P450 oxidoreductase (POR) is required for the activities of steroid metabolizing cytochrome P450 enzymes in the endoplasmic reticulum. P450 oxidoreductase deficiency (PORD) is a form of congenital adrenal hyperplasia. OBJECTIVE AND AIM Enzymatic and structural analysis of a novel L374H POR mutation from a patient with 46, XX disorder of sexual development. Design, setting, patient and intervention: 46,XX girl with non-consanguineous Turkish parents. Virilized external genitalia at birth; uterus and ovaries present, no sign of Antley-Bixler syndrome. Initial diagnosis of CYP21A2 deficiency, no mutations in CYP21A2 but found POR mutations. Functional testing done after producing recombinant POR proteins for analyzing enzymatic and structural properties. MAIN OUTCOME Novel mutations causing severe loss of POR activities for metabolism of steroids and small molecules. RESULTS The L374H reduced activities by 80% in cytochrome c, 97% in MTT and 86% in ferricyanide reduction assays. The catalytic efficiency of 17 α-hydroxylation of progesterone and 17, 20-lyase reaction of 17-OH pregnenolone was decreased by 87% and 90 %, 21-hydroxylation of progesterone was decreased by 96 % and androstenedione aromatization was decreased by 90%. Analysis of mutant structure by molecular dynamic simulations revealed structure instability. Flavin release and fast proteolysis assays showed that the L374H mutant is less stable than WT POR, confirming bioinformatics prediction. CONCLUSIONS This is the first report of a mutation causing PORD by affecting protein stability which causes severe reduction in POR activities. Detailed characterization of individual mutations in POR is required for understanding novel molecular mechanisms causing PORD.

24. P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation

Author

Parween, Shaheena, Roucher-Boulez, Florence, Flück, Christa E., Lienhardt-Roussie, Anne, Mallet, Delphine, Morel, Yves, Pandey, Amit V., Parween, Shaheena, Roucher-Boulez, Florence, Flück, Christa E., Lienhardt-Roussie, Anne, Mallet, Delphine, Morel, Yves, and Pandey, Amit V.

Abstract

Context: P450 oxidoreductase (POR) is required for the activities of steroid-metabolizing cytochrome P450 enzymes in the endoplasmic reticulum. POR deficiency (PORD) is a form of congenital adrenal hyperplasia. Objective and Aim: Enzymatic and structural analysis of a novel L374H POR mutation from a patient with 46,XX disorder of sexual development. Design, Setting, Patient, and Intervention: The patient was a 46,XX girl with nonconsanguineous Turkish parents. She had virilized external genitalia at birth, a uterus and ovaries, and no sign of Antley-Bixler syndrome. The initial diagnosis was CYP21A2 deficiency with no mutations in CYP21A2, but POR mutations were found. Functional testing was done after producing recombinant POR proteins for analyzing enzymatic and structural properties. Main Outcome: Novel mutations were causing severe loss of POR activities for metabolism of steroids and small molecules. Results: The L374H mutation reduced activities by 80% in cytochrome c, 97% in thiazolyl blue tetrazolium bromide, and 86% in ferricyanide reduction assays. The catalytic efficiency of the 17 α-hydroxylation of progesterone and the 17,20-lyase reaction of 17-OH pregnenolone was decreased by 87 and 90%, respectively; 21-hydroxylation of progesterone was decreased by 96%, and androstenedione aromatization was decreased by 90%. Analysis of the mutant structure by molecular dynamics simulations revealed structural instability. Flavin release and fast proteolysis assays showed that the L374H mutant is less stable than wild-type POR, confirming the bioinformatics prediction. Conclusions: This is the first report of a mutation causing PORD by affecting protein stability that causes severe reduction in POR activities. Detailed characterization of individual mutations in POR is required for understanding novel molecular mechanisms causing PORD.

25. Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case–control study

Author

Jacques Cohen, Isabelle Guilhem, Gilbert Simonin, Françoise Labay, Brigitte Mignot, Chantal Stuckens, Anne-Marie Bertrand, Ariane Zelinsky-Gurung, Dominique Thevenieau, Corinne Fourmy Chatel, Régis Coutant, Vincent Gajdos, S. Le Fur, Marie-Emmanuelle Combes-Moukhovsky, Candace Ben Signor, Djamel Bendifallah, Florence Joubert, Anne Fargeot-Espaliat, Joachim Bassil, Agnès Tamboura, François Kurtz, Norbert Laisney, Agnès Guillou, Lucy Chaillous, Laetitia Pantalone, Sophie Valtat, Marie Laloi-Michelin, Chantal Stheneur, Emmanuelle Dubosclard, Anne Paoli, Véronique Kerlan, Yves Reznic, Sylvaine Clavel, Claudie Kerouedan, Philippe Talon, Armelle Pambou, Iva Gueorguieva, Daniel Dervaux, Hélène Bony-Trifunovic, Régis Piquemal, Pierre Gourdy, Brigitte Zymmermann, Hervé Dubourg, Rachel Desailloud, Stéphanie Jellimann, Pierre-Henri Ducluzeau, Bernard Le Luyer, Guy-André Loeuille, Jamil Khoury, Catherine Atlan, Elisabeth Baechler, Felix Balazard, Berthe Razafimahefa, Pierre Lecomte, Randa Salet, Marina Raoulx, Marie-Laure Pignol, Jean-François Gautier, Christine Vervel, Anne Lienhardt-Roussie, Françoise Popelard, P. Bougnères, Sylviane Fournier, Myriam Pepin-Donat, Mélanie Priou-Guesdon, Marc Nicolino, Sabine Baron, Vincent Rigalleau, Pierre-Yves Benhamou, Edwige Yollin, Marie-Claire Wielickzo, Jacques Weill, Pascal Barat, Déborah Ancelle, Jean-Pierre Brossier, Fabienne Dallavale, Laure Oilleau, Catherine Radet, Sylvie Nadalon, Chantal Metz, Etienne Larger, Céline Lukas, Sophie Caudrelier, Isabelle Guemas, Dominique Paris Bockel, Pierre Bougnères, Arnaud Monier, Estelle Marcoux, Alfred Penformis, Abdelkader Benmahammed, Daniel Terral, Philippe Jan, Marc De Kerdanet, Alain-Jacques Valleron, Catherine Boniface, Denis Dufillot, Frédérique Olivier, Jean-Pierre Cappoen, Anne Gourdin et Catherine Dumont, Guilhem Parlier, Bénédicte Guérin, Marie-Noëlle Bortoluzzi, Odile Richard, Service d'Endocrinologie (AMIENS - Endocrino), CHU Amiens-Picardie, Service Endocrinologie-Diabétologie, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Endocrinologie pédiatrique[CHU Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), Centre Hospitalier d’Arras, Université Grenoble Alpes - UFR Médecine (UGA UFRM), Université Grenoble Alpes (UGA), Centre Gabriel Naudé, École pratique des hautes études (EPHE)-École nationale supérieure des sciences de l'information et des bibliothèques (ENSSIB), Université de Lyon-Université de Lyon, Service de pédiatrie [CHRU Besançon], Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Pédiatrie-diabétologie, Hôpital Jeanne de Flandre [Lille], UMR1286 Nutrition et Biologie Intégrative, Institut National de la Recherche Agronomique (INRA), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Consultation Marfan, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bichat, Service d'Endocrinologie (CHRU - Endocrino), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Pédiatrie Neonatalogie, Centre Hospitalier Général, Brive-la-Gaillarde, Brive-la-Gaillarde, France, Institute for Marine and Antarctic Studies [Horbat] (IMAS), University of Tasmania (UTAS), Eli Lilly UK, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôtel-Dieu, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Pédiatrie, Centre hospitalier Jean Monnet, Service d'Hépato-Gastroentérologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], CH Laval, CH Le Havre, Thérapie génique, Génomique et Epigénomique (U 1169), Université Paris-Saclay-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Service d'endocrinologie pédiatrique [CHU Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Médecine interne A et polyclinique médicale [CHU Limoges], CHU Limoges, Service de Pédiatrie médicale [CHU Limoges], Laboratoire Identité Culturelle, Textes et Théâtralité (ICTT), Avignon Université (AU), Service d'endocrinologie pédiatrique [CHU Lyon-Hospices Civils de Lyon], Hospices Civils de Lyon (HCL), Institut d'Informatique et de Mathématiques Appliquées de Grenoble (IMAG), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS), Centre d'Etudes des Mondes Africains (CEMAf), Université Panthéon-Sorbonne (UP1)-Université de Provence - Aix-Marseille 1-École pratique des hautes études (EPHE)-Centre National de la Recherche Scientifique (CNRS), Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôpital Laennec, Service d'Endocrinologie Pédiatrique [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Department of diabetes, Chu (saint-Louis)/inserm, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire [Rennes], Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Biochimie et Physiologie Moléculaire des Plantes (BPMP), Université de Montpellier (UM)-Centre international d'études supérieures en sciences agronomiques (Montpellier SupAgro)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS), Service de Diabétologie - Maladies Métaboliques - Nutrition, CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], Geothalg, Université de Liège, Groupe Hospitalier Artois-Ternois Centre Hospitalier d’Arras, Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), École nationale supérieure des sciences de l'information et des bibliothèques (ENSSIB), Université de Lyon-Université de Lyon-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Nutrition et Neurobiologie intégrée (NutriNeuro), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1 (UB)-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bichat, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Institute for Marine and Antarctic Studies [Hobart] (IMAS), University of Tasmania [Hobart, Australia] (UTAS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier de Laval (CH Laval), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Université Paris 1 Panthéon-Sorbonne (UP1)-Université de Provence - Aix-Marseille 1-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service Diabétologie [CHU Toulouse], Pôle Cardiovasculaire et Métabolique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Université d'Angers (UA), Université de Lyon-Université de Lyon-École pratique des hautes études (EPHE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Service d'Hépato-Gastro-Entérologie [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Hôpital Jeanne de Flandre [Lille], Université Paris 1 Panthéon-Sorbonne (UP1)-Université de Provence - Aix-Marseille 1-École pratique des hautes études (EPHE), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Centre international d'études supérieures en sciences agronomiques (Montpellier SupAgro)-Institut National de la Recherche Agronomique (INRA)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Recherche Agronomique (INRA)-Centre international d'études supérieures en sciences agronomiques (Montpellier SupAgro)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Université Pierre et Marie Curie - Paris 6 (UPMC), Service d'endocrinologie pédiatrique [CHU Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This study was sponsored by an ongoing institutional grant from NovoNordiskFrance, a specific Inserm support lasting from 2008 to 2014, the ProgrammeHospitalier de Recherche Clinique (PHRC ISIS-DIAB and ISIS-VIRUS), the AgenceNationale de la Recherche (ANR ENVIROGENEPIG), the Association pour laRecherche sur le Diabète (ARD)., The Isis diab collaborative group which is composed of the following physicians: Dominique Thevenieau, Corinne Fourmy Chatel, Rachel Desailloud, Hélène Bony-Trifunovic, Pierre-Henri Ducluzeau, Régis Coutant, Sophie Caudrelier, Armelle Pambou, Emmanuelle Dubosclard, Florence Joubert, Philippe Jan, Estelle Marcoux, Anne-Marie Bertrand, Dr Brigitte Mignot, Alfred Penformis, Chantal Stuckens, Régis Piquemal, Pascal Barat, Vincent Rigalleau, Chantal Stheneur, Sylviane Fournier, Véronique Kerlan, Chantal Metz, Anne Fargeot-Espaliat, Yves Reznic, Frédérique Olivier, Iva Gueorguieva, Arnaud Monier, Catherine Radet, Vincent Gajdos, Daniel Terral, Christine Vervel, Djamel Bendifallah, Candace Ben Signor, Daniel Dervaux, Abdelkader Benmahammed, Guy-André Loeuille, Françoise Popelard, Agnès Guillou, Pierre-Yves Benhamou, Jamil Khoury, Jean-Pierre Brossier, Joachim Bassil, Sylvaine Clavel, Bernard Le Luyer, Pierre Bougnères, Françoise Labay, Isabelle Guemas, Jacques Weill, Jean-Pierre Cappoen, Sylvie Nadalon, Anne Lienhardt-Roussie, Anne Paoli, Claudie Kerouedan, Edwige Yollin, Marc Nicolino, Gilbert Simonin, Jacques Cohen, Catherine Atlan, Agnès Tamboura, Hervé Dubourg, Marie-Laure Pignol, Philippe Talon, Stéphanie Jellimann, Lucy Chaillous, Sabine Baron, Marie-Noëlle Bortoluzzi, Elisabeth Baechler, Randa Salet, Ariane Zelinsky-Gurung, Fabienne Dallavale, Etienne Larger, Marie Laloi-Michelin, Jean-François Gautier, Bénédicte Guérin, Dr Laure Oilleau, Laetitia Pantalone, Céline Lukas, Isabelle Guilhem, Marc De Kerdanet, Marie-Claire Wielickzo, Mélanie Priou-Guesdon, Odile Richard, François Kurtz, Norbert Laisney, Déborah Ancelle, Guilhem Parlier, Catherine Boniface, Dominique Paris Bockel, Denis Dufillot, Berthe Razafimahefa,Pierre Gourdy, Pierre Lecomte, Myriam Pepin-Donat, Marie-Emmanuelle Combes-Moukhovsky, Brigitte Zymmermann, Marina Raoulx, Anne Gourdin et Catherine Dumont., ANR-10-BLAN-1113,HYPOCRYPT-ENVIROGENEPIG,Facteurs Environnementaux, Génétiques et Epigénétiques prédisposant à l'hypospadias et la cryptorchidie communs(2010), BMC, BMC, and BLANC - Facteurs Environnementaux, Génétiques et Epigénétiques prédisposant à l'hypospadias et la cryptorchidie communs - - HYPOCRYPT-ENVIROGENEPIG2010 - ANR-10-BLAN-1113 - BLANC - VALID

Subjects
Pediatrics, medicine.medical_specialty, endocrine system diseases, Epidemiology, [SDV]Life Sciences [q-bio], 030209 endocrinology & metabolism, Correlation and dependence, Environment, 03 medical and health sciences, 0302 clinical medicine, Environmental health, Medicine, 030212 general & internal medicine, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, Type 1 diabetes, business.industry, Public health, lcsh:Public aspects of medicine, Incidence (epidemiology), Case-control study, Public Health, Environmental and Occupational Health, nutritional and metabolic diseases, lcsh:RA1-1270, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, Bee stings, Data-driven, 3. Good health, [SDV] Life Sciences [q-bio], Cohort, Propensity score matching, Biostatistics, business, Case–control, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Research Article, Environmental epidemiology
Abstract

BackgroundThe incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown.PurposeTo unravel environmental markers associated with T1D. Methods: Cases were children with T1D from the French Isis-Diab cohort. Controls were schoolmates or friends of the patients. Parents were asked to fill a 845-item questionnaire investigating the child’s environment before diagnosis. The analysis took into account the matching between cases and controls. A second analysis used propensity score methods.ResultsWe found a negative association of several lifestyle variables, gastroenteritis episodes, dental hygiene, hazelnut cocoa spread consumption, wasp and bee stings with T1D, consumption of vegetables from a farm and death of a pet by old age.ConclusionsThe found statistical association of new environmental markers with T1D calls for replication in other cohorts and investigation of new environmental areas.

Published
2016

26. Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case-control study.

Author

Balazard F, Le Fur S, Valtat S, Valleron AJ, Bougnères P, Thevenieau D, Chatel CF, Desailloud R, Bony-Trifunovic H, Ducluzeau PH, Coutant R, Caudrelier S, Pambou A, Dubosclard E, Joubert F, Jan P, Marcoux E, Bertrand AM, Mignot B, Penformis A, Stuckens C, Piquemal R, Barat P, Rigalleau V, Stheneur C, Fournier S, Kerlan V, Metz C, Fargeot-Espaliat A, Reznic Y, Olivier F, Gueorguieva I, Monier A, Radet C, Gajdos V, Terral D, Vervel C, Bendifallah D, Signor CB, Dervaux D, Benmahammed A, Loeuille GA, Popelard F, Guillou A, Benhamou PY, Khoury J, Brossier JP, Bassil J, Clavel S, Le Luyer B, Bougnères P, Labay F, Guemas I, Weill J, Cappoen JP, Nadalon S, Lienhardt-Roussie A, Paoli A, Kerouedan C, Yollin E, Nicolino M, Simonin G, Cohen J, Atlan C, Tamboura A, Dubourg H, Pignol ML, Talon P, Jellimann S, Chaillous L, Baron S, Bortoluzzi MN, Baechler E, Salet R, Zelinsky-Gurung A, Dallavale F, Larger E, Laloi-Michelin M, Gautier JF, Guérin B, Oilleau L, Pantalone L, Lukas C, Guilhem I, De Kerdanet M, Wielickzo MC, Priou-Guesdon M, Richard O, Kurtz F, Laisney N, Ancelle D, Parlier G, Boniface C, Bockel DP, Dufillot D, Razafimahefa B, Gourdy P, Lecomte P, Pepin-Donat M, Combes-Moukhovsky ME, Zymmermann B, Raoulx M, and Dumont AG

Abstract

Background: The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental markers associated with T1D., Methods: Cases were children with T1D from the French Isis-Diab cohort. Controls were schoolmates or friends of the patients. Parents were asked to fill a 845-item questionnaire investigating the child's environment before diagnosis. The analysis took into account the matching between cases and controls. A second analysis used propensity score methods., Results: We found a negative association of several lifestyle variables, gastroenteritis episodes, dental hygiene, hazelnut cocoa spread consumption, wasp and bee stings with T1D, consumption of vegetables from a farm and death of a pet by old age., Conclusions: The found statistical association of new environmental markers with T1D calls for replication in other cohorts and investigation of new environmental areas., Trial Registration: Clinical-Trial.gov NCT02212522 . Registered August 6, 2014.

Published
2016
Full Text
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27. [Height and weight delay in growth].

Author

Lienhardt-Roussie A

Subjects
Child, Preschool, Human Growth Hormone deficiency, Humans, Infant, Reference Values, Body Height, Body Weight, Growth Disorders diagnosis
Published
2011

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