28 results on '"Siala, Nadia"'
Search Results
2. Turner Syndrome: results of the first Tunisian study group on Turner Syndrome (TuSGOT)
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Essaddam, Leila, primary, Zitouni, Ons, additional, Kraoua, Lilia, additional, Trabelsi, Madiha, additional, Sassi, Hella, additional, Kmiha, Sana, additional, Charfi, Fatma, additional, El Guiche, Dorra, additional, Kebaïli, Raoudha, additional, Jaballah, Nesrine, additional, Rjeb, Maroua, additional, Zouari, Noura, additional, El Aribi, Yasmina, additional, Hizem, Syrine, additional, Wannes, Salmen, additional, Fkih Romdhane, Ibtihel, additional, Sfar, Mohamed Tahar, additional, Ben Hamouda, Hechmi, additional, Hadj Salem, Radhia, additional, Khlayfia, Zied, additional, Khmiss, Tarek, additional, Monastiri, Kamel, additional, Siala, Nadia, additional, Chouchane, Slaheddine, additional, Souaa, Habib, additional, Khochtali, Inès, additional, Mahjoub, Bahri, additional, Sfar, Habib, additional, Ben Jemâa, Lamia, additional, Abroug, Saoussen, additional, Boughamoura, Lamia, additional, Kamoun, Inès, additional, Kamoun, Thouraya, additional, Mrad, Ridha, additional, and Ben Becher, Saayda, additional
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- 2023
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3. Imaging of Kawasaki Disease
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Askri, Anis, Hendaoui, Lotfi, Mechmeche, Rachid, Siala, Nadia, Mourali, Sami, Maherzi, Ahmed, Hendaoui, Lotfi, editor, Stanson, Anthony W., editor, Bouhaouala, M. Habib, editor, and Joffre, Francis, editor
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- 2012
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4. Neonatal-onset Progressive Familial Intrahepatic Cholestasis (PFIC): first molecular study in Tunisian patients
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Selmi, Ines, Broly, Franck, Ouarda, Haifa, Marmech, Emna, Khlayfia, Zied, Kanzari, Jihed, Azzabi, Ons, Siala, Nadia, Faculté de Médecine de Tunis, Université de Tunis El Manar (UTM), Impact de l'environnement chimique sur la santé humaine - ULR 4483 (IMPECS), and Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)
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Intrahepatic ,Cholestasis ,[SDV]Life Sciences [q-bio] ,Mutation ,Infant, Newborn ,Humans ,Infant ,Cholestasis, Intrahepatic ,Newborn ,Article - Abstract
International audience; Progressive familial intrahepatic is a heterogeneous group of rare autosomal recessive liver disorders. Neonatal onset is characteristic of the PFIC 1 and PFIC 2, which result from mutations in genes respectivelyATP8B1 and ABCB11. Four Tunisian patients, three of them with PFIC 2 and one with PFIC1, were described. They all had typical clinical and biological features. However, they all had newly reported mutations. The same mutation was found in the patients with PFIC2, which could facilitate the diagnosis in Tunisian patients suspected in the future. The patient diagnosed with PFIC1 had also a newly described mutation, with a probable phenotypic particularity that is congenital hypothyroidism. Advances are being made to establish a molecular diagnosis in neonatal onset cholestasis. Indeed, next generation sequencing gene panels (NGSGP) potentially decrease the need for invasive procedures in these patients, enable early initiation of treatment and adequate genetic counseling.
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- 2021
5. Imaging of Kawasaki Disease
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Askri, Anis, primary, Hendaoui, Lotfi, additional, Mechmeche, Rachid, additional, Siala, Nadia, additional, Mourali, Sami, additional, and Maherzi, Ahmed, additional
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- 2011
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6. Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study
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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
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- 2020
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7. 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
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8. Primary resistance to clarithromycin, metronidazole and amoxicillin of Helicobacter pylori isolated from Tunisian patients with peptic ulcers and gastritis: a prospective multicentre study
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Ben Mansour Khansa, Burucoa Christophe, Zribi Meriem, Masmoudi Afef, Karoui Sami, Kallel Lamia, Chouaib Soufiène, Matri Samira, Fekih Monia, Zarrouk Sonia, Labbene Mounir, Boubaker Jalel, Cheikh Imed, Hriz Mongi, Siala Nadia, Ayadi Abdelkarim, Filali Azza, Mami Nabil, Najjar Taoufik, Maherzi Ahmed, Sfar Mohamed, and Fendri Chedlia
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Therapeutics. Pharmacology ,RM1-950 ,Infectious and parasitic diseases ,RC109-216 ,Microbiology ,QR1-502 - Abstract
Abstract Background The frequency of primary resistance to antibiotics in H. pylori isolates is increasing worldwide. In Tunisia, there are limited data regarding the pattern of H. pylori antibiotic primary resistance. Aim To evaluate the primary resistance of H. pylori to clarithromycin, metronidazole and amoxicillin and to detect the mutations involved in clarithromycin resistance. Materials and methods 273 strains isolated from adults and children were enrolled. The primary resistance to clarithromycin, metronidazole and amoxicillin was evaluated by means of E-test minimal inhibitory concentration (MIC). The real-time PCR using Scorpion primers was performed in all cases to assess clarithromycin primary resistance and point mutations involved. Results No resistance to amoxicillin was detected. For adults, resistance to clarithromycin and metronidazole was found respectively in 14.6% and 56.8%, and respectively in 18.8% and 25% in children. Overall, the rates of global primary resistance to clarithromycin and metronidazole in Tunisia were respectively determined in 15.4% and 51.3%. By the use of Scorpion PCR, the A2143G was the most frequent point mutation observed (88.1%), followed by the A2142G (11.9%); the A2142C was not found and 18 of 42 patients (42.8%) were infected by both the resistant and the susceptible genotype. The association of clarithromycin resistance with gender was not statistically significant, but metronidazole resistant strains were isolated more frequently in females (67.8%) than in males (32.2%) and the difference was significant. As for gastroduodenal diseases, the difference between strains isolated from patients with peptic ulceration and those with non peptic ulceration was not statistically significant. When about the distribution of resistant strains to clarithromycin and metronidazole between the three Tunisian cities (Tunis, Menzel Bourguiba and Mahdia), the difference was not statistically significant. Conclusion Local data regarding the primary resistance of H. pylori to clarithromycin, metronidazole and amoxicillin and the main genetic mutation involved in clarithromycin resistance in vivo (A2143G) are necessary to prove a clear need for a periodic evaluation of antibiotic consumption and new therapeutic strategies in Tunisia in order to avoid the emergence of resistant strains.
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- 2010
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9. Targeted next generation sequencing a powerful and sensitive tool for molecular diagnosis in monogenic enteropathies
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Alibeu, Olivier, Hanein, Sylvian, Lama, Yago Gonzalez, Frdric, Gottrand, Claudio, Romano, Pinto Pais, Isabel, Mattyus, Istvan, Pigneur, Bndicte, Anders, Paerregaard, Luisa, Mearin, EĞİRİTAŞ GÜRKAN, ÖDÜL, Olivier, Goulet, Matjaz, Homan, JeanPierre, Hugot, Karanika, Paraskevi, Alain, Lachaux, Lewindon, Peter, Janos, Major, Emmanuel, Mas, Nadine, CerfBensussan, Frank, Ruemmele, Vaidotas, Urbonas, Dan, Turner, Tounian, Patrick, Caterina, Strisciuglio, Siala, Nadia, Clara, Cremilleux, Fabre, Alexandre, Cananzi, Mara, Jorge Amil, Dias, Marta, German, Marina, Aloi, Fourrage, Cecile, Bernadette, Begue, and CharbitHenrion, Fabienne
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- 2016
10. Omenn Syndrome : Two Case Reports
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Siala, Nadia, Azzabi, Ons, Kebaier, Hakima, Mrad, Ridha, Rebah, Olfa, Barbouche, Mohamed-Ridha, Béjaoui, Mohamed, Halioui, Sonia, Maherzi, Ahmed, and Pasteur Tunis, Institut
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Homeodomain Proteins ,Male ,Omenn syndrome ,severe combined immunodeficiency ,bone marrow ,bone marrow transplantation ,Hematopoietic Stem Cell Transplantation ,Infant ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,[SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology ,[SDV] Life Sciences [q-bio] ,Fatal Outcome ,Humans ,RAG mutations - Abstract
Omenn syndrome is a variant of combined severe immunodeficiency due to mutations in RAG genes. It is characterized by polymorph symptoms and lethal outcome. We report on two cases of Omenn syndrome. Infants were aged 50 and 46 days. The clinical and biological signs were typical and complete in the first case. In the second case, only the cutaneous signs were present. Diagnosis was confirmed by genetic study. The Rag1 T631 mutation was found in these two patients. Hematopoietic stem cell transplantation could not be done and the evolution was fatal in both cases because of severe infectious episodes. Prenatal diagnosis was performed in the two families and each family has currently a healthy child. In conclusion, early diagnosis of Omenn syndrome may avoid infectious complications responsible for delay in therapeutic management. Genetic study confirms the diagnosis. The treatment usually consists of hematopoietic stem cell transplantation in association with immunosuppressive drugs. Prenatal diagnosis is very important to allow parents to have healthy children.
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- 2013
11. Intubation-Surfactant-Extubation Strategy in a Medical Resource-limited Department: A Prospective Study
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Azzabi, Ons, primary, Selmi, Ines, additional, Bellali, Hedia, additional, Siala, Nadia, additional, Dridi, Yosr, additional, Fetni, Ilhem, additional, Chahed, Mohamed Kouni, additional, Halioui, Sonia, additional, and Maherzi, Ahmed, additional
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- 2016
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12. Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome
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Azzabi, Ons, primary, Jilani, Houweyda, additional, Rejeb, Imen, additional, Siala, Nadia, additional, Elaribi, Yasmina, additional, Hizem, Syrine, additional, Selmi, Ines, additional, Halioui, Sonia, additional, Lascols, Olivier, additional, Jemaa, Lamia Ben, additional, and Maherzi, Ahmed, additional
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- 2016
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13. Celiac disease in Tunisian children: A second screening study using a “new generation” rapid test
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Hariz, Mongi Ben, primary, Laadhar, Lilia, additional, Kallel-Sellami, Maryam, additional, Siala, Nadia, additional, Bouraoui, Saadia, additional, Bouziri, Sonia, additional, Borgi, Abdelhafidh, additional, Karouia, Faouzia, additional, Maherzi, Ahmed, additional, and Makni, Sondès, additional
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- 2013
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14. Primary resistance to clarithromycin, metronidazoleand amoxicillin of Helicobacter pylori isolated fromTunisian patients with peptic ulcers and gastritis:a prospective multicentre study.
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Mansour, Khansa Ben, Burucoa, Christophe, Zribi, Meriem, Masmoudi, Afef, Karoui, Sami, Kallel, Lamia, Chouaib, Soufiène, Matri, Samira, Fekih, Monia, Zarrouk, Sonia, Labbene, Mounir, Boubaker, Jalel, Cheikh, Imed, Ben Hriz, Mongi, Siala, Nadia, Ayadi, Abdelkarim, Filali, Azza, Ben Mami, Nabil, Najjar, Taoufik, and Maherzi, Ahmed
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DRUG resistance ,METRONIDAZOLE ,AMOXICILLIN ,HELICOBACTER pylori ,GASTRITIS ,ULCERS - Abstract
Background: The frequency of primary resistance to antibiotics in H. pylori isolates is increasing worldwide. In Tunisia, there are limited data regarding the pattern of H. pylori antibiotic primary resistance. Aim: To evaluate the primary resistance of H. pylori to clarithromycin, metronidazole and amoxicillin and to detect the mutations involved in clarithromycin resistance. Materials and methods: 273 strains isolated from adults and children were enrolled. The primary resistance to clarithromycin, metronidazole and amoxicillin was evaluated by means of E-test minimal inhibitory concentration (MIC). The real-time PCR using Scorpion primers was performed in all cases to assess clarithromycin primary resistance and point mutations involved. Results: No resistance to amoxicillin was detected. For adults, resistance to clarithromycin and metronidazole was found respectively in 14.6% and 56.8%, and respectively in 18.8% and 25% in children. Overall, the rates of global primary resistance to clarithromycin and metronidazole in Tunisia were respectively determined in 15.4% and 51.3%. By the use of Scorpion PCR, the A2143G was the most frequent point mutation observed (88.1%), followed by the A2142G (11.9%); the A2142C was not found and 18 of 42 patients (42.8%) were infected by both the resistant and the susceptible genotype. The association of clarithromycin resistance with gender was not statistically significant, but metronidazole resistant strains were isolated more frequently in females (67.8%) than in males (32.2%) and the difference was significant. As for gastroduodenal diseases, the difference between strains isolated from patients with peptic ulceration and those with non peptic ulceration was not statistically significant. When about the distribution of resistant strains to clarithromycin and metronidazole between the three Tunisian cities (Tunis, Menzel Bourguiba and Mahdia), the difference was not statistically significant. Conclusion: Local data regarding the primary resistance of H. pylori to clarithromycin, metronidazole and amoxicillin and the main genetic mutation involved in clarithromycin resistance in vivo (A2143G) are necessary to prove a clear need for a periodic evaluation of antibiotic consumption and new therapeutic strategies in Tunisia in order to avoid the emergence of resistant strains. [ABSTRACT FROM AUTHOR]
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- 2010
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15. Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study
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Olivier Alibeu, P. Tounian, Nadia Siala, Michela Tempia-Caliera, Jean-Pierre Hugot, Sabine Rakotobe, Christelle Lenoir, Anne Breton, Caterina Strisciuglio, Víctor Manuel Navas-López, Jan Melek, Alain Fischer, Frédéric Rieux-Laucat, Marie-Claude Stolzenberg, Eric Jeziorski, Yago González-Lama, Bénédicte Pigneur, Mongi Ben Hariz, Marina Aloi, Sylvain Latour, Fabienne Mazerolles, Christian Breuer, Julie Bruneau, Clara Crémilleux, Cecile Pelatan, Vaidotas Urbonas, Alexandre Fabre, Nadine Cerf-Bensussan, Frank M. Ruemmele, Luisa Mearin, Capucine Picard, Georgia Malamut, Neslihan Gurcan, Anders Paerregaard, Isabel Pinto Pais, Dan Turner, István Máttyus, Julie Rebeuh, Jiri Bronsky, Sylvain Hanein, Peter Lewindon, Rémi Duclaux-Loras, Graziella Guariso, Anne Bourrier, Odul Egritas Gurkan, Janos Major, Stéphanie Willot, Mara Cananzi, Marianna Parlato, Claudio Romano, Alain Lachaux, Matjaz Homan, Jorge Amil Dias, Eva Lévy, A Fischer, Stéphanie Coopman, Jan Krzysztof Nowak, Fernando Magro, Clémentine Dumant-Forest, Stephan Buderus, Bernadette Bègue, Fabienne Charbit-Henrion, Olivier Goulet, Evi Karanika, Alain Dabadie, Emmanuel Mas, Marta German Diaz, Cécile Fourrage, Rosa Lima, Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egrita, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Jano, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Ander, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidota, Willot, Stéphanie, Ruemmele, Frank M, and Cerf-Bensussan, Nadine
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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.
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- 2020
16. Congenital heart disease: Epidemiological, genetic and evolutive profil.
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Marmech E, Barkallah O, Selmi I, Ben Hamida N, Guizani A, Ouerda H, Khlif S, Ben Hfaiedh J, Kanzari J, Khlayfia Z, Halioui S, Azzabi O, and Siala N
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- Humans, Female, Retrospective Studies, Male, Infant, Newborn, Tunisia epidemiology, Infant, Child, Preschool, Child, Prenatal Diagnosis statistics & numerical data, Prenatal Diagnosis methods, Heart Defects, Congenital epidemiology, Heart Defects, Congenital diagnosis, Heart Defects, Congenital genetics
- Abstract
Introduction: Congenital heart disease is a heterogeneous group of malformations and one of the most common causes of mortality in children., Aim: The aim of this study was to investigate the clinical, genetic and evolutive characteristics of congenital heart disease., Methods: A retrospective, descriptive study was carried out between 2020 and 2023 at the pediatrics and neonatology department of Mongi Slim university hospital of Tunis. All children with confirmed congenital heart disease were included., Results: Forty-five patients were included, representing 5.7‰ of all admissions. The sex ratio was 1.4. A prenatal diagnosis of congenital heart disease was established in 9% of cases. The median age at the time of discovery was 18 days. The initial symptomatology was respiratory distress in 64% of cases. The main reasons for performing a cardiac ultrasound were heart murmur in 38% followed by polymalformative assessment in 27% of cases. Most of the cardiopathies were atrial septal defects (42%) and ventricular septal defects (40%). Cyanotic heart diseases represented 29% of cases, conotruncal ones 13% and ductodependent ones 16%. Congenital heart disease was associated with a genetic anomaly in 53% of patients, including 15 cases of trisomy 21 and four Di-George syndromes. The treatment was mainly medical (38%), associated with surgery in 5 cases. Death occurred in nine patients, representing a mortality rate of 20%., Conclusion: Efforts still need to be made to improve pre- and post-natal diagnosis and ensure rapid treatment in order to reduce morbidity and mortality in our country.
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- 2024
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17. Tunisian consensus on the management of Helicobacter Pylori infection.
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Medhioub M, Chtourou L, Kchaou M, Khsiba A, Zakhama M, Ben Ameur W, Moalla M, Yacoub H, Ayadi S, Bouchabou B, Battikh H, Zribi M, Siala N, Azouz MM, Amouri A, Abdelli MN, Safer L, Bibani N, Ben Mustapha N, Hammami A, Abdelwaheb M, Ennaifer R, Jomni T, and Fekhi M
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- Humans, Consensus, Anti-Bacterial Agents therapeutic use, Duodenum, Helicobacter Infections complications, Helicobacter Infections diagnosis, Helicobacter Infections epidemiology, Helicobacter pylori
- Abstract
Helicobacter pylori infection is the most common infectious disease worldwide. It is associated with duodenal and gastric ulcer disease and the risk of gastric neoplasia. The management of helicobacter pylori infection currently represents a real challenge for clinicians, given the ever-increasing rate of resistance of Helicobacter pyolori to various antibiotics. In this consensus document, we present recommendations adapted to the Tunisian context, including indications for the detection of helicobacter pylori infection, indications for the use of different diagnostic methods, and a therapeutic strategy for the management of Helicobacter pylori infection.
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- 2023
18. Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study.
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Charbit-Henrion F, Parlato M, Hanein S, Duclaux-Loras R, Nowak J, Begue B, Rakotobe S, Bruneau J, Fourrage C, Alibeu O, Rieux-Laucat F, Lévy E, Stolzenberg MC, Mazerolles F, Latour S, Lenoir C, Fischer A, Picard C, Aloi M, Dias JA, Hariz MB, Bourrier A, Breuer C, Breton A, Bronsky J, Buderus S, Cananzi M, Coopman S, Crémilleux C, Dabadie A, Dumant-Forest C, Gurkan OE, Fabre A, Fischer A, Diaz MG, Gonzalez-Lama Y, Goulet O, Guariso G, Gurcan N, Homan M, Hugot JP, Jeziorski E, Karanika E, Lachaux A, Lewindon P, Lima R, Magro F, Major J, Malamut G, Mas E, Mattyus I, Mearin LM, Melek J, Navas-Lopez VM, Paerregaard A, Pelatan C, Pigneur B, Pais IP, Rebeuh J, Romano C, Siala N, Strisciuglio C, Tempia-Caliera M, Tounian P, Turner D, Urbonas V, Willot S, Ruemmele FM, and Cerf-Bensussan N
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- 2021
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19. Neonatal-onset Progressive Familial Intrahepatic Cholestasis (PFIC): first molecular study in Tunisian patients.
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Selmi I, Broly F, Ouarda H, Marmech E, Khlayfia Z, Kanzari J, Azzabi O, and Siala N
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- Humans, Infant, Newborn, Mutation, Cholestasis, Cholestasis, Intrahepatic diagnosis, Cholestasis, Intrahepatic epidemiology, Cholestasis, Intrahepatic genetics
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Progressive familial intrahepatic is a heterogeneous group of rare autosomal recessive liver disorders. Neonatal onset is characteristic of the PFIC 1 and PFIC 2, which result from mutations in genes respectivelyATP8B1 and ABCB11. Four Tunisian patients, three of them with PFIC 2 and one with PFIC1, were described. They all had typical clinical and biological features. However, they all had newly reported mutations. The same mutation was found in the patients with PFIC2, which could facilitate the diagnosis in Tunisian patients suspected in the future. The patient diagnosed with PFIC1 had also a newly described mutation, with a probable phenotypic particularity that is congenital hypothyroidism. Advances are being made to establish a molecular diagnosis in neonatal onset cholestasis. Indeed, next generation sequencing gene panels (NGSGP) potentially decrease the need for invasive procedures in these patients, enable early initiation of treatment and adequate genetic counseling.
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- 2021
20. Preterm birth, mother psychological state and mother- infant bonding.
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Khemakhem R, Bourgou S, Selmi I, Azzabi O, Belhadj A, and Siala N
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- Adult, Anxiety diagnosis, Anxiety epidemiology, Cross-Sectional Studies, Depression, Postpartum diagnosis, Depression, Postpartum epidemiology, Female, Humans, Infant, Newborn, Intensive Care Units, Neonatal, Postpartum Period psychology, Pregnancy, Psychiatric Status Rating Scales, Surveys and Questionnaires, Tunisia, Mother-Child Relations psychology, Mothers psychology, Object Attachment, Premature Birth psychology
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Background: The preterm birth represents a stressful situation that can lead to questions about the survival of the child and the possible consequences., Aim: To examine the interactions between mothers and premature babies in the neonatal care unit (NCU) and assess the psychological state of the mothers., Methods: Cross-sectional study conducted from March to May 2017 in the Department of Pediatrics and Neonatology of the Mongi Slim Hospital (Tunis, Tunisia). Ten mothers of premature babies hospitalized in NCU were involved and responded to the Postpartum Bonding Questionnaire (PBQ), the Edinburgh Postnatal Depression Scale (EPDS) (cut off≥10) and the Hospital Anxiety and Depression Scale (HADS)., Results: The mean age of the mothers was 31 years. A personal history of depression was found in two mothers. The current pregnancy was not desired in three cases, two corresponded to mothers with a history of depression. According to interactions, the median PBQ score was 11. The EPDS median score was six; four mothers had a score greater than 10. A high level on the anxiety sub-scale of the HADS was found in the two mothers who had a personal psychiatric history. The more depressed or anxious the mothers were, the higher the interaction scores (p = 0.012 and p = 0.032, respectively)., Conclusion: Preterm birth seems to affect the psychological state of mothers and their interactions with their baby.
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- 2020
21. Urinary tract infection in the neonates: what radiologic investigations should we do?
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Selmi I, Azzabi O, Khlayfia Z, Marmech E, Ouerda H, Kanzari J, Halioui S, and Siala N
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- Female, Humans, Infant, Newborn, Male, Predictive Value of Tests, Pregnancy, Retrospective Studies, Sensitivity and Specificity, Tunisia, Urinary Tract Infections microbiology, Ultrasonography, Ultrasonography, Prenatal, Urinary Tract Infections diagnostic imaging, Vesico-Ureteral Reflux diagnostic imaging
- Abstract
Introduction: Urinary tract infection (UTI) is the most common bacterial infection in febrile newborns. The exact prevalence is difficult to determine., Aim: To determine if renal ultrasound is sufficient in newborns diagnosed with urinary tract infection (UTI) or if they require a routine voiding cystourethrogram., Methods: Retrospective data analysis for infants admitted in the neonatal department in Mongi Slim Hospital in Tunis between January 2007 and December 2016 and diagnosed with UTI in the first month of life., Results: 75 newborns were diagnosed with the first episode of UTI during their hospitalization. The median age was 15 days; there were 52 (70%) males. Fetal ultrasound data were available for 70 patients (90%), of whom 14 (20%) had abnormal findings. E.coli was the most common causative pathogen founding 62 patients (83%). Renal ultrasound was performed in all patients, of which 20 (27%) were reported as abnormal. VCUG results were available for 32 infants (43%), of which 11 (34%) were interpreted as abnormal; Eight of them (73%) demonstrated vesicoureteric reflux (VUR).Comparison of the patients with and without malformative uropathy in our study, concluded that there was no significant difference in age, gender, urine culture specimen and positivity of blood culture. However antenatal ultrasound abnormalities were predictive of vesicoureteric reflux and other renal abnormalities (p = 0.001). The sensitivity of renal ultrasound for detection of vesicoureteric reflux and other renal or ureteral abnormalities was 81.8 %, specificity was 81 %. The positive predictive value (VPP) was 69.2 % and the negative predictive value was 89.5 %., Conclusion: In infants presenting with UTI in the first month of life, conservative follow-up with renal ultrasound examination and early detection of recurrent UTI are sufficient.
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- 2020
22. 46th Medical Maghrebian Congress. November 9-10, 2018. Tunis.
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Alami Aroussi A, Fouad A, Omrane A, Razzak A, Aissa A, Akkad A, Amraoui A, Aouam A, Arfaoui A, Belkouchi A, Ben Chaaben A, Ben Cheikh A, Ben Khélifa A, Ben Mabrouk A, Benhima A, Bezza A, Bezzine A, Bourrahouat A, Chaieb A, Chakib A, Chetoui A, Daoudi A, Ech-Chenbouli A, Gaaliche A, Hassani A, Kassimi A, Khachane A, Labidi A, Lalaoui A, Masrar A, McHachi A, Nakhli A, Ouakaa A, Siati A, Toumi A, Zaouali A, Condé AY, Haggui A, Belaguid A, El Hangouche AJ, Gharbi A, Mahfoudh A, Bouzouita A, Aissaoui A, Ben Hamouda A, Hedhli A, Ammous A, Bahlous A, Ben Halima A, Belhadj A, Bezzine A, Blel A, Brahem A, Banasr A, Meherzi A, Saadi A, Sellami A, Turki A, Ben Miled A, Ben Slama A, Daib A, Zommiti A, Chadly A, Jmaa A, Mtiraoui A, Ksentini A, Methnani A, Zehani A, Kessantini A, Farah A, Mankai A, Mellouli A, Zaouali A, Touil A, Hssine A, Ben Safta A, Derouiche A, Jmal A, Ferjani A, Djobbi A, Dridi A, Aridhi A, Bahdoudi A, Ben Amara A, Benzarti A, Ben Slama AY, Oueslati A, Soltani A, Chadli A, Aloui A, Belghuith Sriha A, Bouden A, Laabidi A, Mensi A, Ouakaa A, Sabbek A, Zribi A, Green A, Ben Nasr A, Azaiez A, Yeades A, Belhaj A, Mediouni A, Sammoud A, Slim A, Amine B, Chelly B, Jatik B, Lmimouni B, Daouahi B, Ben Khelifa B, Louzir B, Dorra A, Dhahri B, Ben Nasrallah C, Chefchaouni C, Konzi C, Loussaief C, Makni C, Dziri C, Bouguerra C, Kays C, Zedini C, Dhouha C, Mohamed C, Aichaouia C, Dhieb C, Fofana D, Gargouri D, Chebil D, Issaoui D, Gouiaa D, Brahim D, Essid D, Jarraya D, Trad D, Ben Hmida E, Sboui E, Ben Brahim E, Baati E, Talbi E, Chaari E, Hammami E, Ghazouani E, Ayari F, Ben Hariz F, Bennaoui F, Chebbi F, Chigr F, Guemira F, Harrar F, Benmoula FZ, Ouali FZ, Maoulainine FMR, Bouden F, Fdhila F, Améziani F, Bouhaouala F, Charfi F, Chermiti Ben Abdallah F, Hammemi F, Jarraya F, Khanchel F, Ourda F, Sellami F, Trabelsi F, Yangui F, Fekih Romdhane F, Mellouli F, Nacef Jomli F, Mghaieth F, Draiss G, Elamine G, Kablouti G, Touzani G, Manzeki GB, Garali G, Drissi G, Besbes G, Abaza H, Azzouz H, Said Latiri H, Rejeb H, Ben Ammar H, Ben Brahim H, Ben Jeddi H, Ben Mahjouba H, Besbes H, Dabbebi H, Douik H, El Haoury H, Elannaz H, Elloumi H, Hachim H, Iraqi H, Kalboussi H, Khadhraoui H, Khouni H, Mamad H, Metjaouel H, Naoui H, Zargouni H, Elmalki HO, Feki H, Haouala H, Jaafoura H, Drissa H, Mizouni H, Kamoun H, Ouerda H, Zaibi H, Chiha H, Kamoun H, Saibi H, Skhiri H, Boussaffa H, Majed H, Blibech H, Daami H, Harzallah H, Rkain H, Ben Massoud H, Jaziri H, Ben Said H, Ayed H, Harrabi H, Chaabouni H, Ladida Debbache H, Harbi H, Yacoub H, Abroug H, Ghali H, Kchir H, Msaad H, Ghali H, Manai H, Riahi H, Bousselmi H, Limem H, Aouina H, Jerraya H, Ben Ayed H, Chahed H, Snéne H, Lahlou Amine I, Nouiser I, Ait Sab I, Chelly I, Elboukhani I, Ghanmi I, Kallala I, Kooli I, Bouasker I, Fetni I, Bachouch I, Bouguecha I, Chaabani I, Gazzeh I, Samaali I, Youssef I, Zemni I, Bachouche I, Youssef I, Bouannene I, Kasraoui I, Laouini I, Mahjoubi I, Maoudoud I, Riahi I, Selmi I, Tka I, Hadj Khalifa I, Mejri I, Béjia I, Bellagha J, Boubaker J, Daghfous J, Dammak J, Hleli J, Ben Amar J, Jedidi J, Marrakchi J, Kaoutar K, Arjouni K, Ben Helel K, Benouhoud K, Rjeb K, Imene K, Samoud K, El Jeri K, Abid K, Chaker K, Abid K, Bouzghaîa K, Kamoun K, Zitouna K, Oughlani K, Lassoued K, Letaif K, Hakim K, Cherif Alami L, Benhmidoune L, Boumhil L, Bouzgarrou L, Dhidah L, Ifrine L, Kallel L, Merzougui L, Errguig L, Mouelhi L, Sahli L, Maoua M, Rejeb M, Ben Rejeb M, Bouchrik M, Bouhoula M, Bourrous M, Bouskraoui M, El Belhadji M, El Belhadji M, Essakhi M, Essid M, Gharbaoui M, Haboub M, Iken M, Krifa M, Lagrine M, Leboyer M, Najimi M, Rahoui M, Sabbah M, Sbihi M, Zouine M, Chefchaouni MC, Gharbi MH, El Fakiri MM, Tagajdid MR, Shimi M, Touaibia M, Jguirim M, Barsaoui M, Belghith M, Ben Jmaa M, Koubaa M, Tbini M, Boughdir M, Ben Salah M, Ben Fraj M, Ben Halima M, Ben Khalifa M, Bousleh M, Limam M, Mabrouk M, Mallouli M, Rebeii M, Ayari M, Belhadj M, Ben Hmida M, Boughattas M, Drissa M, El Ghardallou M, Fejjeri M, Hamza M, Jaidane M, Jrad M, Kacem M, Mersni M, Mjid M, Sabbah M, Serghini M, Triki M, Ben Abbes M, Boussaid M, Gharbi M, Hafi M, Slama M, Trigui M, Taoueb M, Chakroun M, Ben Cheikh M, Chebbi M, Hadj Taieb M, Kacem M, Ben Khelil M, Hammami M, Khalfallah M, Ksiaa M, Mechri M, Mrad M, Sboui M, Bani M, Hajri M, Mellouli M, Allouche M, Mesrati MA, Mseddi MA, Amri M, Bejaoui M, Bellali M, Ben Amor M, Ben Dhieb M, Ben Moussa M, Chebil M, Cherif M, Fourati M, Kahloul M, Khaled M, Machghoul M, Mansour M, Abdesslem MM, Ben Chehida MA, Chaouch MA, Essid MA, Meddeb MA, Gharbi MC, Elleuch MH, Loueslati MH, Sboui MM, Mhiri MN, Kilani MO, Ben Slama MR, Charfi MR, Nakhli MS, Mourali MS, El Asli MS, Lamouchi MT, Cherti M, Khadhraoui M, Bibi M, Hamdoun M, Kassis M, Touzi M, Ben Khaled M, Fekih M, Khemiri M, Ouederni M, Hchicha M, Kassis M, Ben Attia M, Yahyaoui M, Ben Azaiez M, Bousnina M, Ben Jemaa M, Ben Yahia M, Daghfous M, Haj Slimen M, Assidi M, Belhadj N, Ben Mustapha N, El Idrissislitine N, Hikki N, Kchir N, Mars N, Meddeb N, Ouni N, Rada N, Rezg N, Trabelsi N, Bouafia N, Haloui N, Benfenatki N, Bergaoui N, Yomn N, Ben Mustapha N, Maamouri N, Mehiri N, Siala N, Beltaief N, Aridhi N, Sidaoui N, Walid N, Mechergui N, Mnif N, Ben Chekaya N, Bellil N, Dhouib N, Achour N, Kaabar N, Mrizak N, Mnif N, Chaouech N, Hasni N, Issaoui N, Ati N, Balloumi N, Haj Salem N, Ladhari N, Akif N, Liani N, Hajji N, Trad N, Elleuch N, Marzouki NEH, Larbi N, M'barek N, Rebai N, Bibani N, Ben Salah N, Belmaachi O, Elmaalel O, Jlassi O, Mihoub O, Ben Zaid O, Bouallègue O, Bousnina O, Bouyahia O, El Maalel O, Fendri O, Azzabi O, Borgi O, Ghdes O, Ben Rejeb O, Rachid R, Abi R, Bahiri R, Boulma R, Elkhayat R, Habbal R, Rachid R, Tamouza R, Jomli R, Ben Abdallah R, Smaoui R, Debbeche R, Fakhfakh R, El Kamel R, Gargouri R, Jouini R, Nouira R, Fessi R, Bannour R, Ben Rabeh R, Kacem R, Khmakhem R, Ben Younes R, Karray R, Cheikh R, Ben Malek R, Ben Slama R, Kouki R, Baati R, Bechraoui R, Fakhfakh R, Fradi R, Lahiani R, Ridha R, Zainine R, Kallel R, Rostom S, Ben Abdallah S, Ben Hammamia S, Benchérifa S, Benkirane S, Chatti S, El Guedri S, El Oussaoui S, Elkochri S, Elmoussaoui S, Enbili S, Gara S, Haouet S, Khammeri S, Khefecha S, Khtrouche S, Macheghoul S, Mallouli S, Rharrit S, Skouri S, Helali S, Boulehmi S, Abid S, Naouar S, Zelfani S, Ben Amar S, Ajmi S, Braiek S, Yahiaoui S, Ghezaiel S, Ben Toumia S, Thabeti S, Daboussi S, Ben Abderahman S, Rhaiem S, Ben Rhouma S, Rekaya S, Haddad S, Kammoun S, Merai S, Mhamdi S, Ben Ali R, Gaaloul S, Ouali S, Taleb S, Zrour S, Hamdi S, Zaghdoudi S, Ammari S, Ben Abderrahim S, Karaa S, Maazaoui S, Saidani S, Stambouli S, Mokadem S, Boudiche S, Zaghbib S, Ayedi S, Jardek S, Bouselmi S, Chtourou S, Manoubi S, Bahri S, Halioui S, Jrad S, Mazigh S, Ouerghi S, Toujani S, Fenniche S, Aboudrar S, Meriem Amari S, Karouia S, Bourgou S, Halayem S, Rammeh S, Yaïch S, Ben Nasrallah S, Chouchane S, Ftini S, Makni S, Manoubi S, Miri S, Saadi S, Manoubi SA, Khalfallah T, Mechergui T, Dakka T, Barhoumi T, M'rad TEB, Ajmi T, Dorra T, Ouali U, Hannachi W, Ferjaoui W, Aissi W, Dahmani W, Dhouib W, Koubaa W, Zhir W, Gheriani W, Arfa W, Dougaz W, Sahnoun W, Naija W, Sami Y, Bouteraa Y, Elhamdaoui Y, Hama Y, Ouahchi Y, Guebsi Y, Nouira Y, Daly Y, Mahjoubi Y, Mejdoub Y, Mosbahi Y, Said Y, Zaimi Y, Zgueb Y, Dridi Y, Mesbahi Y, Gharbi Y, Hellal Y, Hechmi Z, Zid Z, Elmouatassim Z, Ghorbel Z, Habbadi Z, Marrakchi Z, Hidouri Z, Abbes Z, Ouhachi Z, Khessairi Z, Khlayfia Z, Mahjoubi Z, and Moatemri Z
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- Africa, Northern epidemiology, Anatomy education, Education, Medical history, Education, Medical methods, Education, Medical organization & administration, History, 21st Century, Humans, Internship and Residency standards, Internship and Residency trends, Job Satisfaction, Pathology, Clinical education, Tunisia epidemiology, Education, Medical trends, Medicine methods, Medicine organization & administration, Medicine trends
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- 2019
23. Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.
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Charbit-Henrion F, Parlato M, Hanein S, Duclaux-Loras R, Nowak J, Begue B, Rakotobe S, Bruneau J, Fourrage C, Alibeu O, Rieux-Laucat F, Lévy E, Stolzenberg MC, Mazerolles F, Latour S, Lenoir C, Fischer A, Picard C, Aloi M, Dias JA, Hariz MB, Bourrier A, Breuer C, Breton A, Bronsky J, Buderus S, Cananzi M, Coopman S, Crémilleux C, Dabadie A, Dumant-Forest C, Gurkan OE, Fabre A, Fischer A, Diaz MG, Gonzalez-Lama Y, Goulet O, Guariso G, Gurcan N, Homan M, Hugot JP, Jeziorski E, Karanika E, Lachaux A, Lewindon P, Lima R, Magro F, Major J, Malamut G, Mas E, Mattyus I, Mearin LM, Melek J, Navas-Lopez VM, Paerregaard A, Pelatan C, Pigneur B, Pais IP, Rebeuh J, Romano C, Siala N, Strisciuglio C, Tempia-Caliera M, Tounian P, Turner D, Urbonas V, Willot S, Ruemmele FM, and Cerf-Bensussan N
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- Adolescent, Age of Onset, Child, Child, Preschool, Cohort Studies, Female, Humans, Infant, Inflammatory Bowel Diseases therapy, Male, Predictive Value of Tests, High-Throughput Nucleotide Sequencing, Inflammatory Bowel Diseases diagnosis, Inflammatory Bowel Diseases etiology
- 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., (© The Author(s) 2018. Published by Oxford University Press on behalf of European Crohn’s and Colitis Organisation.)
- Published
- 2018
- Full Text
- View/download PDF
24. Abstracts of the Conferences of the Sixteenth Francophone Meetings of Allergology Hammamet, 4-7 October 2017.
- Author
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Drira I, Dumur JP, Birnbaum J, Siala N, Fetni I, Maherzi A, Ouoba K, Delebarre Sauvage C, Sabouraud-Leclerc D, Fontaine JF, Menif E, Pauli G, Cheynel A, Badri T, Hacard F, Sahtout S, Charfi MR, and Yangui F
- Published
- 2017
25. SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea.
- Author
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Azzabi O, Fetni I, Selmi I, Halioui S, Ben Hariz M, Giuseppe C, Siala N, and Maherzi A
- Subjects
- Child, Preschool, Diarrhea genetics, Female, Heterozygote, Homozygote, Humans, Sulfate Transporters, Tunisia, Chloride-Bicarbonate Antiporters genetics, Diarrhea congenital, Metabolism, Inborn Errors genetics, Mutation, Parents
- Published
- 2016
26. Chylothorax: a complication of internal jugular vein catheterization in a premature newborn.
- Author
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Bouziri A, Khaldi A, Siala N, Hammi Y, Ben Hriz M, Maherzi A, Menif K, and Ben Jaballah N
- Subjects
- Humans, Infant, Newborn, Catheterization, Central Venous adverse effects, Chylothorax etiology, Infant, Premature, Diseases etiology, Jugular Veins
- Published
- 2011
27. Pneumococcal infection and hemolytic uremic syndrome.
- Author
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Tinsa F, Siala N, Ncibi N, Fetni I, Kasdalli K, Ben Jballah N, and Mehrezi A
- Subjects
- Empyema, Pleural etiology, Female, Hemolytic-Uremic Syndrome diagnosis, Humans, Infant, Male, Meningitis, Bacterial etiology, Pneumococcal Infections diagnosis, Hemolytic-Uremic Syndrome complications, Pneumococcal Infections complications
- Abstract
Background: Hemolytic uremic syndrome, one of the common causes of acute renal failure in children, is characterized by the triad of microangiopathy, haemolytic anemia, thrombocytopenia and acute renal failure. The diarrhoea-associated Hemolytic uremic syndrome is usually termed as a typical Hemolytic uremic syndrome. Streptococcus pneumoniae is an uncommon etiological pathogen for inducing Hemolytic uremic syndrome, and Streptococcus pneumoniae associated Hemolytic uremic syndrome is also termed as atypical hemolytic uremic syndrome., Aim: to report two pediatric cases of invasive S pneumoniae complicated with hemolytic uremic syndrome HUS., Case Report: The first patient presented with pneumococcal pneumonia and empyema and the second patient presented with pneumococcal pneumonia and meningitis. The two patients were under one year of age and required peritoneal dialysis with improvement of renal function in one; the other died., Conclusion: Pneumococcal invasive disease may be a cause of severe HUS, so a high index of suspicion is mandatory to prompt appropriate diagnosis and management.
- Published
- 2009
28. [The hydatid cyst of the lung in children: 54 cases].
- Author
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Boussetta K, Siala N, Brini I, Aloui N, Sammoud A, Hammou A, Chaouachi B, and Bousnina S
- Subjects
- Adolescent, Child, Child, Preschool, Echinococcosis, Pulmonary epidemiology, Echinococcosis, Pulmonary surgery, Female, Humans, Male, Retrospective Studies, Tunisia epidemiology, Echinococcosis, Pulmonary diagnosis
- Abstract
The purpose of this retrospective study is to clarify the clinical, radiological and evolutionary aspects of the hydatid cyst of the lung. Over a period of 9 years (January, 1983 - December, 2001), we brought together in the pediatric service B of Children's hospital of Tunis, 54 cases of hydatid cyst of the lung. The average age is of 7 years 3 months (extremes 2 and 14 years), and the sex- ratio of 1,16. 61% of the children are of rural origin. Bronchpulmonary infection is the most frequent circumstance of discovery (72 % of cases). hemoptysis is revealing in 37% of cases. Discovery is fortuitous in 7% of cases. The radiography of the chest is of a big diagnostic contribution. The radiological aspects obtained are: a homogeneous opaqueness (61%), a diverse opaqueness (26%), an image of lung abscess (22 %), an aspect of floating membrane (4 %), a pleural effusion (9%), and an opaqueness with growing gas (4%). Chest echography was contributory in 77% of cases. 74% of the children were operated without complications. The others were lost.
- Published
- 2005
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