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Autor | Castilla, Eduardo E. | |
Autor | Orioli, Iêda M. | |
Autor | Múltipla autoria - ver em Notas | |
Fecha de acceso | 2019-03-07T15:12:31Z | |
Fecha de disponibilización | 2019-03-07T15:12:31Z | |
Fecha de publicación | 2008 | |
Referencia | LEONCINI, Emanuele; et al. Frequency of Holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for Population Variations. Birth Defects Research (Part A), v. 82, p.585–591, 2008. | pt_BR |
ISSN | 2472-1727 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/31973 | |
Descripción | AUTHORS - Emanuele Leoncini,1 Giovanni Baranello,2 Ieˆda M. Orioli,3 Go¨ran Annere´n,4 Marian Bakker,5 Fabrizio Bianchi,6 Carol Bower,7 Mark A. Canfield,8 Eduardo E. Castilla,3 Guido Cocchi,9 Adolfo Correa,10 Catherine De Vigan,11 Berenice Doray,12 Marcia L. Feldkamp,13 Miriam Gatt,14 Lorentz M. Irgens,15 R. Brian Lowry,16 Alice Maraschini,1 Robert Mc Donnell,17 Margery Morgan,18 Osvaldo Mutchinick,19 Simone Poetzsch,20 Merilyn Riley,21 Annukka Ritvanen,22 Elisabeth Robert Gnansia,23 Gioacchino Scarano,24 Antonin Sipek,25 Romano Tenconi,26 and Pierpaolo Mastroiacovo1* --- AFFILIATIONS - 1Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Roma, Italy 2Istituto di Neuropsichiatria Infantile, Universita` Cattolica Sacro Cuore, Roma, Italy 3ECLAMC at Dept. Gene´tica, Universidade Federal do Rio de Janeiro, Brazil 4Department of Clinical Genetics, Uppsala University, Uppsala and Swedish Births Defects Registry, Stockholm, Sweden 5EUROCAT Northern Netherlands, Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands 6Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del CNR, Pisa, Italy 7Western Australian Birth Defects Registry (WABDR), Women and Newborn Health Service, Subiaco, Western Australia 8Texas Birth Defects Epidemiology & Surveillance Branch, Austin, Texas 9Istituto Clinico di Pediatria Preventiva e Neonatologia, Universita` di Bologna, Bologna, Italy 10Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 11Registre des malformations conge´nitales de Paris, INSERM U 149, Recherches e´pide´miologiques en sante´ pe´rinatale et sante´ des femmes, Villejuif, France 12Service de Ge´ne´tique Me´dicale, Hopital de Hautepierre, Strasbourg, France 13Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 14Malta Congenital Anomalies Registry, Department of Health Information and Research, Guardamangia, Malta 15Medical Birth Registry of Norway, Department of Public Health and Primary Care, University of Bergen and the Norwegian Institute of Public Health, Bergen, Norway 16Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada 17Population Health Directorate, HSE, Dr. Steevens Hospital, Dublin, Ireland 18Congenital Anomaly Register and Information Service (CARIS), Singleton Hospital, Swansea, Wales, United Kingdom 19RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico 20Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke University, Magdeburg, Germany 21Victorian Birth Defects Register, Perinatal Data Collection Unit, Department of Human Services, Victoria, Australia 22National Research and Development Centre for Welfare and Health (STAKES), Helsinki, Finland 23REMERA, Registre des Malformations en Rhoˆne Alpes, Faculte´ Laennec, Lyon, France 24Birth Defects Campania Registry, Medical Genetics Dept., General Hospital ‘‘G. Rummo’’ Benevento, Italy 25Department of Population Teratology, Institute for Care of Mother and Child, Prague, Czech Republic 26Dipartimento di Pediatria, Genetica Clinica ed Epidemiologica, Universita`di Padova, Padova, Italy. | pt_BR |
Idioma | eng | pt_BR |
Editor | Wiley | pt_BR |
Derechos de autor | restricted access | |
Palabras clave en Portugués | Holoprosencefalia | pt_BR |
Palabras clave en Portugués | Epidemiologia | pt_BR |
Palabras clave en Portugués | Prevalência | pt_BR |
Palabras clave en Portugués | Malformações cerebrais | pt_BR |
Título | Frequency of Holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for Population Variations | pt_BR |
Tipo del documento | Article | pt_BR |
DOI | 10.1002/bdra.20479 | |
Resumen en Inglés | Holoprosencephaly (HPE) is a developmental field defect of the brain that results in incomplete separation of the cerebral hemispheres that includes less severe phenotypes, such as arhinencephaly and single median maxillary central incisor. Information on the epidemiology of HPE is limited, both because few population-based studies have been reported, and because small studies must observe a greater number of years in order to accumulate sufficient numbers of births for a reliable estimate. METHODS: We collected data from 2000 through 2004 from 24 of the 46 Birth Defects Registry Members of the International Clearinghouse for Birth Defects Surveillance and Research. This study is based on more than 7 million births in various areas from North and South America, Europe, and Australia. RESULTS: A total of 963 HPE cases were registered, yielding an overall prevalence of 1.31 per 10,000 births. Because the estimate was heterogeneous, possible causes of variations among populations were analyzed: random variation, under-reporting and over-reporting bias, variation in proportion of termination of pregnancies among all registered cases and real differences among populations. CONCLUSIONS: The data do not suggest large differences in total prevalence of HPE among the studied populations that would be useful to generate etiological hypotheses. | pt_BR |
Afiliación | Universidade Federal do Rio de Janeiro. Departamento de Genética. ECLAMC. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Rio de Janeiro, RJ, Brasil. | pt_BR |
Afiliación | Universidade Federal do Rio de Janeiro. Departamento de Genética. ECLAMC. Rio de Janeiro, RJ, Brasil. | pt_BR |
Afiliación | Múltipla autoria - ver em Notas | pt_BR |
Palavras clave en Inglês | Holoprosencephaly | pt_BR |
Palavras clave en Inglês | Epidemiology | pt_BR |
Palavras clave en Inglês | Prevalence | pt_BR |
Palavras clave en Inglês | Brain malformations | pt_BR |
Palavras clave en Inglês | ICBDSR | pt_BR |
Fecha de embargo | 2022-01-01 |
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