28 results on '"Duclaux-Loras, Remi"'
Search Results
2. Salivary cholesterol level does not reflect cholesterolemia in children with heterozygous familial hypercholesterolemia
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Fricaudet, Marianne, Di Filippo, Mathilde, Moulin, Philippe, Nony, Séverine, Peron, Marie Anais, Brignot, Hélène, Feron, Gilles, Sage, Cédric, Poinsot, Pierre, Duclaux Loras, Rémi, Croyal, Mikael, Charriere, Sybil, and Peretti, Noel
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- 2023
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3. Multifocal lymphangioendotheliomatosis with thrombocytopenia: report of a case with favorable outcome into adulthood
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Kerrouch, Hasna, primary, Gouillon, Laurie, additional, Duclaux-Loras, Remi, additional, Burillon, Carole, additional, Kanitakis, Jean, additional, Hjira, Naoufal, additional, Guibaud, Laurent, additional, and Jullien, Denis, additional
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- 2024
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4. Human inherited complete STAT2 deficiency underlies inflammatory viral diseases
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Bucciol, Giorgia, Moens, Leen, Ogishi, Masato, Rinchai, Darawan, Matuozzo, Daniela, Momenilandi, Mana, Kerrouche, Nacim, Cale, Catherine M., Treffeisen, Elsa R., Salamah, Mohammad Al, Saud, Bandar K. Al-, Lachaux, Alain, Duclaux-Loras, Remi, Meignien, Marie, Bousfiha, Aziz, Benhsaien, Ibtihal, Shcherbina, Anna, Roppelt, Anna, Gothe, Florian, Houhou-Fidouh, Nadhira, Hackett, Scott J., Bartnikas, Lisa M., Maciag, Michelle C., Alosaimi, Mohammed F., Chou, Janet, Mohammed, Reem W., Freij, Bishara J., Jouanguy, Emmanuelle, Zhang, Shen-Ying, Boisson-Dupuis, Stephanie, Beziat, Vivien, Zhang, Qian, Duncan, Christopher J.A., Hambleton, Sophie, Casanova, Jean- Laurent, and Meyts, Isabelle
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Genetic disorders -- Causes of -- Complications and side effects ,Inflammation -- Genetic aspects -- Risk factors ,STAT proteins -- Health aspects -- Genetic aspects ,Virus diseases -- Risk factors -- Genetic aspects ,Health care industry - Abstract
STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency. Both cells transfected with mutant STAT2 alleles and the patients' cells displayed impaired expression of IFN-stimulated genes and impaired control of in vitro viral infections. Clinical manifestations from early childhood onward included severe adverse reaction to live attenuated viral vaccines (LAV) and severe viral infections, particularly critical influenza pneumonia, critical COVID-19 pneumonia, and herpes simplex virus type 1 (HSV-1) encephalitis. The patients displayed various types of hyperinflammation, often triggered by viral infection or after LAV administration, which probably attested to unresolved viral infection in the absence of STAT2-dependent types I and III IFN immunity. Transcriptomic analysis revealed that circulating monocytes, neutrophils, and [CD8.sup.+] memory T cells contributed to this inflammation. Several patients died from viral infection or heart failure during a febrile illness with no identified etiology. Notably, the highest mortality occurred during early childhood. These findings show that AR complete STAT2 deficiency underlay severe viral diseases and substantially impacts survival., Introduction Human type I and III IFNs operate in almost all cell types (1, 2). Type I IFNs (IFN-[alpha]/[beta]) are thought to be secreted by most, if not all, of [...]
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- 2023
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5. Low Levels of Fecal Calprotectin 3 Months After Surgery Predict Subsequent Endoscopic Postoperative Remission in Crohn’s Disease
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Veyre, Florian, Boschetti, Gilles, Meunier, Camille, Cuerq, Charlotte, Gay, Claire, Charlois, Anne-Laure, Duclaux-Loras, Remi, Danion, Pauline, Cotte, Eddy, Kepenekian, Vahan, Mialon, Anne, Faure, Mathias, Roblin, Xavier, Flourie, Bernard, and Nancey, Stéphane
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- 2021
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6. Selective Autophagy Receptors in Antiviral Defense
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Viret, Christophe, Duclaux-Loras, Rémi, Nancey, Stéphane, Rozières, Aurore, and Faure, Mathias
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- 2021
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7. Concentrations of Ustekinumab During Induction Therapy Associate With Remission in Patients With Crohn’s Disease
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Soufflet, Ninon, Boschetti, Gilles, Roblin, Xavier, Cuercq, Charlotte, Williet, Nicolas, Charlois, Anne-Laure, Duclaux-Loras, Remi, Danion, Pauline, Mialon, Anne, Faure, Mathias, Paul, Stéphane, Flourie, Bernard, and Nancey, Stéphane
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- 2019
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8. UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking
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Duclaux-Loras, Remi, Lebreton, Corinne, Berthelet, Jeremy, Charbit-Henrion, Fabienne, Nicolle, Ophelie, de Courtils, Celine Revenu, Waich, Stephanie, Valovka, Taras, Khiat, Anis, Rabant, Marion, Racine, Caroline, Guerrera, Ida Chiara, Baptista, Julia, Mahe, Maxime M., Hess, Michael W., Durel, Beatrice, Lefort, Nathalie, Banal, Celine, Parisot, Melanie, Talbotec, Cecile, Lacaille, Florence, Ecochard-Dugelay, Emmanuelle, Demir, Arzu Meltem, Vogel, Georg F., Faivre, Laurence, Rodrigues, Astor, Fowler, Darren, Janecke, Andreas R., Muller, Thomas, Huber, Lukas A., Rodrigues-Lima, Fernando, Ruemmele, Frank M., Uhlig, Holm H., Del Bene, Filippo, Michaux, Gregoire, Cerf-Bensussan, Nadine, and Parlato, Marianna
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Gene mutations -- Research ,Genetic disorders -- Causes of ,Medical research ,Medicine, Experimental ,Myosin -- Genetic aspects -- Health aspects ,Diarrhea -- Genetic aspects -- Causes of ,Molecular chaperones -- Genetic aspects -- Health aspects ,Cell membranes -- Health aspects ,Phenotype -- Research ,Health care industry - Abstract
Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet the mechanism underlying intestinal failure in UNC45A deficiency remains unclear. Here, biallelic variants in UNC45A were identified by next-generation sequencing in 6 patients with congenital diarrhea. Corroborating in silico prediction, variants either abolished UNC45A expression or altered protein conformation. Myosin VB was identified by mass spectrometry as client of the UNC45A chaperone and was found misfolded in [UNC45A.sup.KO] Caco-2 cells. In keeping with impaired myosin VB function, [UNC45A.sup.KO] Caco-2 cells showed abnormal epithelial morphogenesis that was restored by full-length UNC45A, but not by mutant alleles. Patients and [UNC45A.sup.KO] 3D organoids displayed altered luminal development and microvillus inclusions, while 2D cultures revealed Rab11 and apical transporter mislocalization as well as sparse and disorganized microvilli. All those features resembled the subcellular abnormalities observed in duodenal biopsies from patients with microvillus inclusion disease. Finally, microvillus inclusions and shortened microvilli were evidenced in enterocytes from unc45a-deficient zebrafish. Taken together, our results provide evidence that UNC45A plays an essential role in epithelial morphogenesis through its cochaperone function of myosin VB and that UNC45A loss causes a variant of microvillus inclusion disease., Introduction Congenital diarrhea disorders (CDDs) are rare monogenic diseases characterized by chronic, life-threatening diarrhea starting early in life (1, 2). Depending on the mechanism, diarrhea can be the only symptom [...]
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- 2022
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9. A European Survey on Digestive Perianastomotic Ulcerations, a Rare Crohn-like Disorder Occurring in Children and Young Adults
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Madre, Chrystele, Mašić, Mario, Prlenda-Touilleux, Daniela, Brueckner, Annecarin, Koletzko, Sibylle, Fabre, Alexandre, Viala, Jérome, Lima, Rosa, Enaud, Raphael, Lemale, Julie, Kolho, Kaija-Leena, Bergoin, Charlotte, Martinez-Vinson, Christine, Dugelay, Emmanuelle, Alvisi, Patrizia, Aloi, Marina, Miele, Erasmo, Duclaux-Loras, Remi, Nachury, Maria, Languepin, Jane, Willot, Stephanie, Dupont-Lucas, Claire, Mosca, Alexis, Tzivinikos, Christos, Shamasneh, Ibrahim, Kolaček, Sanja, and Hugot, Jean-Pierre
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- 2021
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10. Preventing catheter-associated infections in parenteral nutrition in a pediatric gastroenterology unit, 2010–2018: impact of an educational program surveying policies for insertion and care of central venous catheters
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Barreto, Christine, Duclaux-Loras, Remi, Peretti, Noel, Ruiz, Mathias, Bruchon, Christine, Grando, Jacqueline, and Vanhems, Philippe
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- 2019
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11. Vedolizumab for IBD-like inflammation after intestinal transplantation: does it work?
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Norsa, Lorenzo, Rabant, Marion, Francisca, Joly, Danielle, Canioni, Duclaux-Loras, Remi, Busch, Andreas, Ruemmele, Frank, and Lacaille, Florence
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- 2019
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12. Pediatric combined liver-kidney transplantation: a single-center experience of 18 cases
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Duclaux-Loras, Remi, Bacchetta, Justine, Berthiller, Julien, Rivet, Christine, Demède, Delphine, Javouhey, Etienne, Dubois, Remi, Dijoud, Frederique, Lachaux, Alain, Badet, Lionel, Boillot, Olivier, and Cochat, Pierre
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Kidney transplantation -- Physiological aspects -- Demographic aspects -- Research ,Liver transplantation -- Physiological aspects -- Demographic aspects -- Research ,Health - Abstract
Background Experience in combined liver-kidney transplantation (CLKT) in children is limited. Methods We conducted a retrospective study of all pediatric CLKTs performed at our medical institution between 1992 and 2013. Results We identified 18 pediatric patients (9 girls) who had undergone CLKT at our institution during the study period. The median age [range] and body weight [range] of this patient group was 3.6 [1.0-18.6] years and 13 [10-40] kg, respectively; 11 patients weighed Conclusions Pediatric CLKT provides encouraging results in the long term, even in the youngest patients., Author(s): Remi Duclaux-Loras[sup.1] [sup.2] [sup.3] , Justine Bacchetta[sup.1] [sup.2] , Julien Berthiller[sup.4] , Christine Rivet[sup.3] , Delphine Demède[sup.5] , Etienne Javouhey[sup.2] [sup.6] , Remi Dubois[sup.5] , Frederique Dijoud[sup.2] [sup.7] , [...]
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- 2016
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13. Gut Inflammation in Mice Triggers Proliferation and Function of Mucosal Foxp3+ Regulatory T Cells but Impairs Their Conversion from CD4+ T Cells
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Boschetti, Gilles, Kanjarawi, Reem, Bardel, Emilie, Collardeau-Frachon, Sophie, Duclaux-Loras, Remi, Moro-Sibilot, Ludovic, Almeras, Thibaut, Flourié, Bernard, Nancey, Stephane, and Kaiserlian, Dominique
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- 2017
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14. Chapitre 1 - Orientations diagnostiques et classification des déficits immunitaires primitifs
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Pellier, Isabelle, Bousfiha, Aziz, Duclaux-Loras, Remi, Picard, Capucine, Belot, Alexandre, and Blanche, Stéphane
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- 2022
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15. Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea
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Norsa, Lorenzo, primary, Berni Canani, Roberto, additional, Duclaux-Loras, Remi, additional, Bequet, Emeline, additional, Köglmeier, Jutta, additional, Russell, Richard K, additional, Uhlig, Holm H, additional, Travis, Simon, additional, Hollis, Jennifer, additional, Koletzko, Sibylle, additional, Grimaldi, Giusi, additional, Castaldo, Giuseppe, additional, Rodrigues, Astor, additional, Deflandre, Jaques, additional, Dembinski, Lukasz, additional, Shah, Neil, additional, Heinz-Erian, Peter, additional, Janecke, Andreas, additional, Leskinen, Saara, additional, Wedenoja, Satu, additional, Koskela, Ritva, additional, Lachaux, Alain, additional, Kolho, Kaija-Leena, additional, and Ruemmele, Frank M, additional
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- 2021
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16. Les thérapies multiples dans les MICI – combothérapies et combiothérapies
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Laharie, David and Duclaux-Loras, Rémi
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- 2022
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17. Diagnostic yield of next-generation sequencing in very early-onset inflammatory bowel diseases: A multicentre study
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Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Remi, Nowak, Jan, Bègue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Amil Dias, Jorge, Ben Hariz, Mongi, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronski, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Egritas Gurkan, Odul, Fabre, Alexandre, Fischer, Aude, German Diaz, Marta, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pinto Pais, Isabel, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank, Cerf-Bensussan, Nadine, Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronski, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egrita, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Jano, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Ander, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidota, Willot, Stéphanie, Ruemmele, Frank M., Cerf-Bensussan, Nadine, Laboratory of Intestinal Immunity (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), The Clinical Bioinformatics laboratory (Equipe Inserm U1163), Immunité et cancer (U932), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Immunogenetics of pediatric autoimmune diseases (Equipe Inserm U1163), Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), GENIUS Group, Service de Gastroentérologie et nutrition [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Pédiatrie, Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Hospital Universitario Puerta de Hierro-Majadahonda [Madrid, Spain], Gastroentérologie-Hépatologie et Nutrition Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Hospital de São João [Porto], Service de gastroenterologie [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Le Mans (CH Le Mans), University of Messina, Department of Pediatrics, Centre Hospitalier Universitaire Mongi Slim [La Marsa], CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Gastroentérologie, d'hépatologie et nutrition pédiatrique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Saint-Antoine [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Institut National de la Recherche Agronomique (INRA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), CHU Le MAns, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Curie-Université Paris Descartes - Paris 5 (UPD5), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), and Institut Curie-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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Male ,paediatric ,VEO-IBD ,Adolescent ,monogenic disorder ,Gastroenterology ,High-Throughput Nucleotide Sequencing ,Infant ,Genetics and molecular epidemiology ,Inflammatory Bowel Diseases ,monogenic disorders ,Corrigenda ,Cohort Studies ,paediatrics ,Predictive Value of Tests ,Child, Preschool ,TNGS ,Humans ,[SDV.IMM]Life Sciences [q-bio]/Immunology ,Female ,Age of Onset ,Child ,Genetics and molecular epidemiology, monogenic disorders, paediatrics, TNGS, VEO-IBD, Gastroenterology ,AcademicSubjects/MED00260 - Abstract
Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: Predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.
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- 2018
18. P2.44: Vedolizumab for IBD-like inflammation after intestinal transplantation: does it work?
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Norsa, Lorenzo, primary, Rabant, Marion, additional, Francisca, Joly, additional, Danielle, Canioni, additional, Duclaux-Loras, Remi, additional, Busch, Andreas, additional, Ruemmele, Frank, additional, and Lacaille, Florence, additional
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- 2019
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19. P4.52: Preventing catheter-associated infections in parenteral nutrition in a pediatric gastroenterology unit, 2010–2018: impact of an educational program surveying policies for insertion and care of central venous catheters
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Barreto, Christine, primary, Duclaux-Loras, Remi, additional, Peretti, Noel, additional, Ruiz, Mathias, additional, Bruchon, Christine, additional, Grando, Jacqueline, additional, and Vanhems, Philippe, additional
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- 2019
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20. Les variants bi-alléliques d’IPO8 entraînent une dysplasie du tissu conjonctif avec anomalies cardiovasculaires, squelettiques et une dérégulation immunitaire
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Ziegler, Alban, Duclaux-Loras, Rémi, Revenu, Céline, Martin, Ludovic, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, and Parlato, Marianna
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- 2021
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21. Long-term disease course in a patient with severe neonatal IPEX syndrome
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Duclaux-Loras, Rémi, Collardeau-Frachon, Sophie, Nancey, Stephane, Fabien, Nicole, Kaiserlian, Dominique, and Lachaux, Alain
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- 2015
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22. Gut Inflammation in Mice Triggers Proliferation and Function of Mucosal Foxp3+Regulatory T Cells but Impairs Their Conversion from CD4+T Cells
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Boschetti, Gilles, primary, Kanjarawi, Reem, additional, Bardel, Emilie, additional, Collardeau-Frachon, Sophie, additional, Duclaux-Loras, Remi, additional, Moro-Sibilot, Ludovic, additional, Almeras, Thibaut, additional, Flourié, Bernard, additional, Nancey, Stephane, additional, and Kaiserlian, Dominique, additional
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- 2016
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23. Mo1758 Impact of Intestinal Inflammation on FOXP3 Regulatory T-Cells
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Boschetti, Gilles, primary, Duclaux-loras, Remi, additional, Kanjarawi, Reem, additional, Flourie, Bernard, additional, Kaiserlian, Dominique, additional, and Nancey, Stephane, additional
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- 2015
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24. Accuracies of Serum and Fecal S100 Proteins (Calprotectin and Calgranulin C) to Predict the Response to TNF Antagonists in Patients with Crohnʼs Disease
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Boschetti, Gilles, primary, Garnero, Patrick, additional, Moussata, Driffa, additional, Cuerq, Charlotte, additional, Préaudat, Corinne, additional, Duclaux-Loras, Remi, additional, Mialon, Anne, additional, Drai, Jocelyne, additional, Flourié, Bernard, additional, and Nancey, Stephane, additional
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- 2015
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25. Gut Inflammation in Mice Triggers Proliferation and Function of Mucosal Foxp3+ Regulatory T Cells but Impairs Their Conversion from CD4+ T Cells.
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Boschetti, Gilles, Kanjarawi, Reem, Bardel, Emilie, Collardeau-Frachon, Sophie, Duclaux-Loras, Remi, Moro-Sibilot, Ludovic, Almeras, Thibaut, Flourié, Bernard, Nancey, Stephane, and Kaiserlian, Dominique
- Abstract
Background and Aims: Regulatory Foxp3
+ CD4+ T cells [Tregs] have been implicated in the control of colitis in T-cell transfer models, yet their ability to regulate colitis induced by innate immunity and the impact of gut inflammation on their fate and function have been poorly documented. Methods: Colitis was induced by dextran sodium sulphate in DEREG transgenic mice. Tregs ablation and transfer experiments showd that Tregs could limit the severity of colitis in B6 mice. Results: Gut inflammation resulted in increased number of Tregs in mesenteric lymph nodes [MLN] and colon lamina propria [LP], although their frequency decreased due to massive concomitant leukocyte infiltration. This coincided at both sites with a dramatic increase in Ki67+ Tregs which retained proliferative capacity. Gut inflammation resulted in enhanced suppressive function of Tregs in colon lamina propria and neuropillin-1- [NRP1-]Treg in MLN. Real-time polymerase chain reaction analysis and flow cytometry [using IL10-egfp-reporter mice] showed that compared with NRP1+ Treg, NRP1- Treg express higher levels of IL-10 transcripts and were enriched in IL10-expressing cells both in the steady state and during colitis. Moreover, Treg conversion in vivo from from naïve CD4+ T cells or Treg precursors was impaired in colitic mice. Finally, gut inflammation caused a decrease in intestinal dendritic cells, affecting both CD103+ CD11b+ and CD103+ CD11b- subsets and affected their Treg conversion capacity. Conclusions: Together, our data indicate that non-specific colon inflammation triggers proliferation and suppressive function of Tregs in the lamina propria and MLN, but impairs their de novo conversion from CD4+ T cells by intestinal dendritic cells. [ABSTRACT FROM AUTHOR]- Published
- 2017
- Full Text
- View/download PDF
26. Biallelic loss of function variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities and immune dysregulation
- Author
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Ziegler, Alban, Duclaux-Loras, Remi, Revenu, Celine, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Dumas, Valerie Desquiret, Zarhrate, Mohammed, Mas, Emmanuel, Breton, Anne, Edouard, Thomas Edouard, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel Henrion, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anais, Moulin, Bruno, Reinstein, Eyal Reinstein, Tzur, Shay, Attali, Ruben, Mcgillivray, George, White, Susan M., Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M., Nayak, Shalini S., Pais, Lynn, Maroofian, Reza, Vona, Barbara Vona, Karmiani, Ehsan Ghayoor Karmiani, Lekszas, Caroline Lekszas, Thomas Edouard, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo Del Bene, and Parlato, Marianna
27. Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea
- Author
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Ritva Koskela, Jennifer Hollis, Frank M. Ruemmele, Giuseppe Castaldo, Lorenzo Norsa, Giusi Grimaldi, Emeline Bequet, Peter Heinz-Erian, Holm H. Uhlig, Saara Leskinen, Remi Duclaux-Loras, Simon Travis, Alain Lachaux, Roberto Berni Canani, Kaija-Leena Kolho, Astor Rodrigues, Lukasz Dembinski, Jaques Deflandre, Neil Shah, Richard K. Russell, Andreas R. Janecke, Satu Wedenoja, Jutta Köglmeier, Sibylle Koletzko, Norsa, Lorenzo, Berni Canani, Roberto, Duclaux-Loras, Remi, Bequet, Emeline, Köglmeier, Jutta, Russell, Richard K, Uhlig, Holm H, Travis, Simon, Hollis, Jennifer, Koletzko, Sibylle, Grimaldi, Giusi, Castaldo, Giuseppe, Rodrigues, Astor, Deflandre, Jaque, Dembinski, Lukasz, Shah, Neil, Heinz-Erian, Peter, Janecke, Andrea, Leskinen, Saara, Wedenoja, Satu, Koskela, Ritva, Lachaux, Alain, Kolho, Kaija-Leena, Ruemmele, Frank M, HUS Gynecology and Obstetrics, University of Helsinki, Department of Obstetrics and Gynecology, Clinicum, Children's Hospital, and HUS Children and Adolescents
- Subjects
Crohn’s disease ,Male ,medicine.medical_treatment ,Gastroenterology ,Inflammatory bowel disease ,Cohort Studies ,0302 clinical medicine ,Prevalence ,Chloride-Bicarbonate Antiporters ,Child ,TUMOR-NECROSIS-FACTOR ,Colectomy ,0303 health sciences ,Crohn's disease ,biology ,General Medicine ,congenital chloride diarrhoea ,Ulcerative colitis ,3. Good health ,Europe ,Sulfate Transporters ,030211 gastroenterology & hepatology ,Female ,congenital chloride diarrhea ,COLITIS ,medicine.drug ,Adult ,Diarrhea ,medicine.medical_specialty ,Congenital chloride diarrhea ,Adolescent ,SLC26A3 ,ALKALOSIS ,Vedolizumab ,03 medical and health sciences ,Young Adult ,Internal medicine ,medicine ,Humans ,030304 developmental biology ,ulcerative colitis ,MUTATIONS ,business.industry ,medicine.disease ,Inflammatory Bowel Diseases ,GENE ,DRA ,digestive system diseases ,Infliximab ,ADENOMA ,MICE ,3121 General medicine, internal medicine and other clinical medicine ,Mutation ,biology.protein ,monogenic disease ,REDUCES EXPRESSION ,business ,Metabolism, Inborn Errors - Abstract
Background Congenital chloride diarrhoea [CLD] is a rare autosomal recessive disease caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients suffer from life-long watery diarrhoea and chloride loss. Inflammatory bowel disease [IBD] has been reported in individual patients with CLD and in scl26a3-deficient mice. Methods We performed an international multicentre analysis to build a CLD cohort and to identify cases with IBD. We assessed clinical and genetic characteristics of subjects and studied the cumulative incidence of CLD-associated IBD. Results In a cohort of 72 patients with CLD caused by 17 different SLC26A3 mutations, we identified 12 patients [17%] diagnosed with IBD. Nine patients had Crohn’s disease, two ulcerative colitis and one IBD-unclassified [IBD-U]. The prevalence of IBD in our cohort of CLD was higher than the highest prevalence of IBD in Europe [p < 0.0001]. The age of onset was variable [13.5 years, interquartile range: 8.5–23.5 years]. Patients with CLD and IBD had lower z-score for height than those without IBD. Four of 12 patients had required surgery [ileostomy formation n = 2, ileocaecal resection due to ileocaecal valve stenosis n = 1 and colectomy due to stage II transverse colon cancer n = 1]. At last follow-up, 5/12 were on biologics [adalimumab, infliximab or vedolizumab], 5/12 on immunosuppressants [azathioprine or mercaptopurine], one on 5-ASA and one off-treatment. Conclusions A substantial proportion of patients with CLD develop IBD. This suggests the potential involvement of SL26A3-mediated anion transport in IBD pathogenesis. Patients with CLD-associated IBD may require surgery for treatment failure or colon cancer.
- Published
- 2021
28. A European Survey on Digestive Perianastomotic Ulcerations, a Rare Crohn-like Disorder Occurring in Children and Young Adults
- Author
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Christos Tzivinikos, Ibrahim Shamasneh, Marina Aloi, Patrizia Alvisi, Erasmo Miele, Rémi Duclaux-Loras, Jérôme Viala, Stéphanie Willot, Rosa Lima, Claire Dupont-Lucas, Mario Mašić, Julie Lemale, Daniela Prlenda-Touilleux, J. Languepin, Sanja Kolaček, Chrystèle Madre, Alexandre Fabre, Kaija-Leena Kolho, Charlotte Bergoin, Sibylle Koletzko, Jean-Pierre Hugot, Raphaël Enaud, Christine Martinez-Vinson, Maria Nachury, Alexis Mosca, Annecarin Brueckner, Emmanuelle Dugelay, Hôpital Robert Debré, University of Zagreb, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Dr von Hauner Children's Hospital [Munich, Germany], Ludwig-Maximilians-Universität München (LMU), Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre 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 Paris Cité (UPCité), Centro Hospitalar do Porto, CHU Bordeaux [Bordeaux], Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Geriatrics Unit [Pierre-Bénite], Université de Lyon-Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Ospedale Maggiore Carlo Alberto Pizzardi di Bologna, Nutrition, Inflammation et axe Microbiote-Intestin-Cerveau (ADEN), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Naples Federico II = Università degli studi di Napoli Federico II, Hospices Civils de Lyon (HCL), Institute for Translational Research in Inflammation - U 1286 (INFINITE (Ex-Liric)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Limoges, Service de Neuropédiatrie et Handicaps, Hôpital Gatien de Clocheville, CHU Tours, Université de Caen Normandie (UNICAEN), Normandie Université (NU), Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Pédiatrie Médicale [Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Al Jalila Children's Specialty Hospital, Medical Genetics Unit, Shaare Zedek Medical Center, Hevrew University Medical School, Clinicum, Children's Hospital, HUS Children and Adolescents, Madre, Chrystele, Mašić, Mario, Prlenda-Touilleux, Daniela, Brueckner, Annecarin, Koletzko, Sibylle, Fabre, Alexandre, Viala, Jérome, Lima, Rosa, Enaud, Raphael, Lemale, Julie, Kolho, Kaija-Leena, Bergoin, Charlotte, Martinez-Vinson, Christine, Dugelay, Emmanuelle, Alvisi, Patrizia, Aloi, Marina, Miele, Erasmo, Duclaux-Loras, Remi, Nachury, Maria, Languepin, Jane, Willot, Stephanie, Dupont-Lucas, Claire, Mosca, Alexi, Tzivinikos, Christo, Shamasneh, Ibrahim, Kolaček, Sanja, and Hugot, Jean-Pierre
- Subjects
Male ,intestinal resection ,Abdominal pain ,Pediatrics ,Hirschsprung disease ,Inflammatory bowel disease ,0302 clinical medicine ,3123 Gynaecology and paediatrics ,Interquartile range ,030212 general & internal medicine ,Child ,Digestive System Surgical Procedures ,Anastomosis, Surgical ,Gastroenterology ,Crohn disease ,COMPLICATION ,Short bowel syndrome ,3. Good health ,Failure to thrive ,Necrotizing enterocolitis ,Female ,digestive perianastomotic ulcerations ,030211 gastroenterology & hepatology ,gut inflammation ,medicine.symptom ,ileocaecal valve ,medicine.medical_specialty ,RESECTION ,short bowel syndrome ,Anastomosis ,Young Adult ,03 medical and health sciences ,Bloating ,medicine ,Humans ,enteral nutrition ,ANEMIA ,Ulcer ,necrotizing enterocolitis ,business.industry ,Infant, Newborn ,Infant ,ANASTOMOTIC ULCERS ,abdominal surgery ,medicine.disease ,3121 General medicine, internal medicine and other clinical medicine ,Pediatrics, Perinatology and Child Health ,business ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,INFLAMMATORY-BOWEL-DISEASE - Abstract
International audience; Objectives: Digestive perianastomotic ulcerations (DPAU) resembling Crohn disease lesions are long-term complications of intestinal resections, occurring in children and young adults. They are known to be uncommon, severe and difficult to treat.Methods: In the absence of recommendations, we performed a large European survey among the members of the ESPGHAN working group on inflammatory bowel disease (IBD) in order to collect the experience of expert pediatric gastroenterologists on DPAU.Results: Fifty-one patients (29 boys and 22 girls) were identified from 19 centers in 8 countries. Most patients were followed after necrotizing enterocolitis (n = 20) or Hirschsprung disease (n = 11). The anastomosis was performed at a median age (interquartile range) of 6 [1–23] months, and first symptoms occurred 39 [22–106] months after surgery. Anemia was the most prevalent symptom followed by diarrhea, abdominal pain, bloating, and failure to thrive. Hypoalbuminemia, elevated CRP, and fecal calprotectin were common. Deep ulcerations were found in 59% of patients usually proximally to the anastomosis (68%). During a median follow-up of 40 [19–67] months, treatments reported to be the most effective included exclusive enteral nutrition (31/35, 88%), redo anastomosis (18/22, 82%), and alternate antibiotic treatment (37/64, 58%).Conclusions: Unfortunately, persistence of symptoms, failure to thrive, and abnormal laboratory tests at last follow-up in most of patients show the burden of DPAU lacking optimal therapy and incomplete understanding of the pathophysiology.
- Published
- 2021
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