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4 results on '"Hariz, Mongi Ben"'

1. Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

Author

Charbit-Henrion, Fabienne, primary, Parlato, Marianna, additional, Hanein, Sylvain, additional, Duclaux-Loras, Rémi, additional, Nowak, Jan, additional, Begue, Bernadette, additional, Rakotobe, Sabine, additional, Bruneau, Julie, additional, Fourrage, Cécile, additional, Alibeu, Olivier, additional, Rieux-Laucat, Frédéric, additional, Lévy, Eva, additional, Stolzenberg, Marie-Claude, additional, Mazerolles, Fabienne, additional, Latour, Sylvain, additional, Lenoir, Christelle, additional, Fischer, Alain, additional, Picard, Capucine, additional, Aloi, Marina, additional, Dias, Jorge Amil, additional, Hariz, Mongi Ben, additional, Bourrier, Anne, additional, Breuer, Christian, additional, Breton, Anne, additional, Bronsky, Jiri, additional, Buderus, Stephan, additional, Cananzi, Mara, additional, Coopman, Stéphanie, additional, Crémilleux, Clara, additional, Dabadie, Alain, additional, Dumant-Forest, Clémentine, additional, Gurkan, Odul Egritas, additional, Fabre, Alexandre, additional, Fischer, Aude, additional, Diaz, Marta German, additional, Gonzalez-Lama, Yago, additional, Goulet, Olivier, additional, Guariso, Graziella, additional, Gurcan, Neslihan, additional, Homan, Matjaz, additional, Hugot, Jean-Pierre, additional, Jeziorski, Eric, additional, Karanika, Evi, additional, Lachaux, Alain, additional, Lewindon, Peter, additional, Lima, Rosa, additional, Magro, Fernando, additional, Major, Janos, additional, Malamut, Georgia, additional, Mas, Emmanuel, additional, Mattyus, Istvan, additional, Mearin, Luisa M, additional, Melek, Jan, additional, Navas-Lopez, Victor Manuel, additional, Paerregaard, Anders, additional, Pelatan, Cecile, additional, Pigneur, Bénédicte, additional, Pais, Isabel Pinto, additional, Rebeuh, Julie, additional, Romano, Claudio, additional, Siala, Nadia, additional, Strisciuglio, Caterina, additional, Tempia-Caliera, Michela, additional, Tounian, Patrick, additional, Turner, Dan, additional, Urbonas, Vaidotas, additional, Willot, Stéphanie, additional, Ruemmele, Frank M, additional, and Cerf-Bensussan, Nadine, additional

Published
2020
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2. Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

Author

Charbit-Henrion, Fabienne, primary, Parlato, Marianna, additional, Hanein, Sylvain, additional, Duclaux-Loras, Rémi, additional, Nowak, Jan, additional, Begue, Bernadette, additional, Rakotobe, Sabine, additional, Bruneau, Julie, additional, Fourrage, Cécile, additional, Alibeu, Olivier, additional, Rieux-Laucat, Frédéric, additional, Lévy, Eva, additional, Stolzenberg, Marie-Claude, additional, Mazerolles, Fabienne, additional, Latour, Sylvain, additional, Lenoir, Christelle, additional, Fischer, Alain, additional, Picard, Capucine, additional, Aloi, Marina, additional, Dias, Jorge Amil, additional, Hariz, Mongi Ben, additional, Bourrier, Anne, additional, Breuer, Christian, additional, Breton, Anne, additional, Bronsky, Jiri, additional, Buderus, Stephan, additional, Cananzi, Mara, additional, Coopman, Stéphanie, additional, Crémilleux, Clara, additional, Dabadie, Alain, additional, Dumant-Forest, Clémentine, additional, Gurkan, Odul Egritas, additional, Fabre, Alexandre, additional, Fischer, Aude, additional, Diaz, Marta German, additional, Gonzalez-Lama, Yago, additional, Goulet, Olivier, additional, Guariso, Graziella, additional, Gurcan, Neslihan, additional, Homan, Matjaz, additional, Hugot, Jean-Pierre, additional, Jeziorski, Eric, additional, Karanika, Evi, additional, Lachaux, Alain, additional, Lewindon, Peter, additional, Lima, Rosa, additional, Magro, Fernando, additional, Major, Janos, additional, Malamut, Georgia, additional, Mas, Emmanuel, additional, Mattyus, Istvan, additional, Mearin, Luisa M, additional, Melek, Jan, additional, Navas-Lopez, Victor Manuel, additional, Paerregaard, Anders, additional, Pelatan, Cecile, additional, Pigneur, Bénédicte, additional, Pais, Isabel Pinto, additional, Rebeuh, Julie, additional, Romano, Claudio, additional, Siala, Nadia, additional, Strisciuglio, Caterina, additional, Tempia-Caliera, Michela, additional, Tounian, Patrick, additional, Turner, Dan, additional, Urbonas, Vaidotas, additional, Willot, Stéphanie, additional, Ruemmele, Frank M, additional, and Cerf-Bensussan, Nadine, additional

Published
2018
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3. Diagnosis of celiac disease and applicability of ESPGHAN guidelines in Mediterranean countries: a real life prospective study.

Author

Smarrazzo, Andrea, Misak, Zrinjka, Costa, Stefano, Micetic-Turk, Dušanka, Abu-Zekry, Mona, Kansu, Aydan, Abkari, Abdelhak, Bouziane-Nedjadi, Karim, Hariz, Mongi Ben, Roma, Eleftheria, Velmishi, Virtut, Tamara, Maria Legarda, Attard, Thomas, Djurisic, Veselinka, Greco, Luigi, Magazzù, Giuseppe, Mičetić-Turk, Dušanka, Ben Hariz, Mongi, and Legarda Tamara, Maria

Subjects
CELIAC disease diagnosis, MEDICAL protocols, DISEASE prevalence, INTESTINAL biopsy, MEDICAL care, AUTOANTIBODIES, BIOPSY, CARRIER proteins, CONNECTIVE tissues, GENETIC techniques, INTESTINES, LONGITUDINAL method, MEDICAL care use, TRANSFERASES, HLA-B27 antigen
Abstract

Background: We assessed how the diagnosis of Celiac Disease (CD) is made and how the new ESPGHAN guidelines can be applied in children from countries with different resources.Methods: A real life prospective study was performed in 14 centres of 13 different Mediterranean countries. Participants were asked to apply the usual diagnostic work-up for CD according to their diagnostic facilities.Results: There were 1974 patients enrolled in the study, mean age 4 years, 10 months; 865 male, 1109 female. CD was confirmed in 511 (25.9%) and was unconfirmed in 1391 (70.5%) patients; 14 patients were diagnosed as having CD according to the new ESPGHAN guidelines, 43 patients were classified as having potential CD. In all participating countries the diagnosis of CD relied on histology of duodenal biopsy; in 5 countries, HLA, and in one country endomysial antibodies (EMA) were not available. Symptoms did not add a significant increase to the pre-test probability of serological tests. The positive predictive value of tissue transglutaminase type 2 (tTG) antibodies performed with different kits but all corresponding to those recommended by ESPGHAN was 96.1% (95% CI 94-97.9%) in presence of tTG > 10xULN. In 135 patients with tTG >10xULN, HLA genotyping was performed and in all it was compatible with CD.Conclusions: The results of our study show that CD diagnosis still relies on intestinal biopsy in the Mediterranean area. New ESPGHAN criteria are not applicable in 5 countries due to lack of resources needed to perform HLA genotyping and, in one country, EMA assay. Further simplification of the new ESPGHAN guidelines might be made according to what preliminarily the present results suggest if confirmed by new prospective studies. [ABSTRACT FROM AUTHOR]

Published
2017
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4. Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

Author

Olivier Alibeu, P. Tounian, Nadia Siala, Michela Tempia-Caliera, Jean-Pierre Hugot, Sabine Rakotobe, Christelle Lenoir, Anne Breton, Caterina Strisciuglio, Víctor Manuel Navas-López, Jan Melek, Alain Fischer, Frédéric Rieux-Laucat, Marie-Claude Stolzenberg, Eric Jeziorski, Yago González-Lama, Bénédicte Pigneur, Mongi Ben Hariz, Marina Aloi, Sylvain Latour, Fabienne Mazerolles, Christian Breuer, Julie Bruneau, Clara Crémilleux, Cecile Pelatan, Vaidotas Urbonas, Alexandre Fabre, Nadine Cerf-Bensussan, Frank M. Ruemmele, Luisa Mearin, Capucine Picard, Georgia Malamut, Neslihan Gurcan, Anders Paerregaard, Isabel Pinto Pais, Dan Turner, István Máttyus, Julie Rebeuh, Jiri Bronsky, Sylvain Hanein, Peter Lewindon, Rémi Duclaux-Loras, Graziella Guariso, Anne Bourrier, Odul Egritas Gurkan, Janos Major, Stéphanie Willot, Mara Cananzi, Marianna Parlato, Claudio Romano, Alain Lachaux, Matjaz Homan, Jorge Amil Dias, Eva Lévy, A Fischer, Stéphanie Coopman, Jan Krzysztof Nowak, Fernando Magro, Clémentine Dumant-Forest, Stephan Buderus, Bernadette Bègue, Fabienne Charbit-Henrion, Olivier Goulet, Evi Karanika, Alain Dabadie, Emmanuel Mas, Marta German Diaz, Cécile Fourrage, Rosa Lima, Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egrita, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Jano, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Ander, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidota, Willot, Stéphanie, Ruemmele, Frank M, and Cerf-Bensussan, Nadine

Subjects
VEO-IBD, business.industry, Yield (finance), monogenic IBD, next generation sequencing, very early onset IBD, Gastroenterology, Inflammatory Bowel Diseases, Genetics and molecular epidemiology, Original Articles, General Medicine, monogenic disorders, Bioinformatics, Very early onset, DNA sequencing, paediatrics, Editor's Choice, Multicenter study, TNGS, Medicine, genetics and molecular epidemiology, business
Abstract

Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.

Published
2020

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