Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
| العنوان: | Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study |
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| المؤلفون: | Ingeborg Barisic, Michel Guo, Florence Rouget, Awi Wiesel, Mary O'Mahony, Kari Klungsøyr, Martin Haeusler, Karen Luyt, Maria Loane, Nel Roeleveld, Babak Khoshnood, Diana Wellesley, Bruno Schaub, Han G. Brunner, Jenny J. Kurinczuk, Carmel Mullaney, Clara Cavero-Carbonell, Judith Rankin, Jorieke E. H. Bergman, Monica Lanzoni, Iris A.L.M. van Rooij, Hanitra Randrianaivo, Carlos Matias Dias, Isabelle Perthus, Anna Latos-Bielenska, Natalya Zymak-Zakutnia, Romy van de Putte, Larraitz Etxebarriarteun, Marie-Claude Addor, Elizabeth S Draper, Carlo Marcelis, Hermien E. K. de Walle, Anna Pierini, Amanda J. Neville, Anke Rissmann, Vera Nelen, David Tucker, Nicola Miller, Miriam Gatt |
| المساهمون: | RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA Klinische Genetica (5), Radboud University [Nijmegen], Equipe 1 : EPOPé - Épidémiologie Obstétricale, Périnatale et Pédiatrique (CRESS - U1153), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), CHU Clermont-Ferrand, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU de la Martinique [Fort de France], University of Groningen [Groningen], Radboud university [Nijmegen], Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Reproductive Origins of Adult Health and Disease (ROAHD) |
| المصدر: | PEDIATRIC RESEARCH r-FISABIO. Repositorio Institucional de Producción Científica instname Pediatric Research van de Putte, R, van Rooij, I A L M, Marcelis, C L M, Guo, M, Brunner, H G, Addor, M-C, Cavero-Carbonell, C, Dias, C M, Draper, E S, Etxebarriarteun, L, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Kurinczuk, J J, Lanzoni, M, Latos-Bielenska, A, Luyt, K, O'Mahony, M T, Miller, N, Mullaney, C, Nelen, V, Neville, A J, Perthus, I, Pierini, A, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Wiesel, A, Zymak-Zakutnia, N, Loane, M, Barisic, I, de Walle, H E K, Roeleveld, N & Bergman, J E H 2019, ' Spectrum of congenital anomalies among VACTERL cases : a EUROCAT population-based study ', Pediatric Research . https://doi.org/10.1038/s41390-019-0561-yTest Pediatric Research, 87(3), 541-549. Nature Publishing Group Pediatric Research, 2020, 87 (3), pp.541-549. ⟨10.1038/s41390-019-0561-y⟩ Pediatric Research, Nature Publishing Group, 2020, 87 (3), pp.541-549. ⟨10.1038/s41390-019-0561-y⟩ Pediatric Research, 87, 3, pp. 541-549 r-FISABIO: Repositorio Institucional de Producción Científica Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO) Pediatric Research, 87, 541-549 |
| بيانات النشر: | Nature Publishing Group, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Pediatrics, Databases, Factual, [SDV]Life Sciences [q-bio], Fistula, Anal Canal, Kidney, 0302 clinical medicine, VERTEBRAL DEFECTS, EUROCAT, Prevalence, Congenital Anomalies, Observação em Saúde e Vigilância, Europe, Trachea, Clinical Practice, VACTERL, associated anomalies, epidemiology, Phenotype, Anal atresia, Anomalias Congénitas, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Heart Defects, Congenital, medicine.medical_specialty, Consensus, anal atresia, Limb Deformities, Congenital, Vertebral anomalies, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Esophagus, International Classification of Diseases, Predictive Value of Tests, Terminology as Topic, 030225 pediatrics, medicine, Humans, fistula, Genetic Predisposition to Disease, Central database, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, RENAC, vater-association, Estados de Saúde e de Doença, medicine.disease, Spine, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], Joint research, Population based study, ESOPHAGEAL ATRESIA, DEFINITION, Atresia, Pediatrics, Perinatology and Child Health, business, 030217 neurology & neurosurgery |
| الوصف: | Background The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes. Methods A case-only study was performed assessing data on 501 cases recorded with VACTERL in the JRC-EUROCAT (Joint Research Centre-European Surveillance of Congenital Anomalies) central database (birth years: 1980-2015). We differentiated between major and minor VACTERL features and anomalies outside the VACTERL spectrum to create a clear definition of VACTERL. Results In total, 397 cases (79%) fulfilled our VACTERL diagnostic criteria. The most commonly observed major VACTERL features were anorectal malformations and esophageal atresia/tracheo-esophageal fistula (both occurring in 62% of VACTERL cases), followed by cardiac (57%), renal (51%), vertebral (33%), and limb anomalies (25%), in every possible combination. Three VACTERL subtypes were defined: STRICT-VACTERL, VACTERL-LIKE, and VACTERL-PLUS, based on severity and presence of additional congenital anomalies. Conclusion The clearly defined VACTERL component features and the VACTERL subtypes introduced will improve both clinical practice and etiologic research. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1530-0447 0031-3998 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::033c566cebe8c39c0897b0f137be43e7Test https://cris.maastrichtuniversity.nl/en/publications/0e675984-5da6-4cf4-8ae7-dde546729d2aTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....033c566cebe8c39c0897b0f137be43e7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15300447 00313998 |
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