Rare diseases and congenital malformations integrated registry in Tuscany-Italy (Abstract/Poster in convegno)

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  • Rare diseases and congenital malformations integrated registry in Tuscany-Italy (Abstract/Poster in convegno) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
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  • Pierini A.; Pieroni F.; Rial M.; Bianchi F. (2008)
    Rare diseases and congenital malformations integrated registry in Tuscany-Italy
    in 35th Annual Meeting of the International Clearinghouse for Birth Defects Surveillance and Research, Abano Terme (Padova)
    (literal)
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  • Pierini A.; Pieroni F.; Rial M.; Bianchi F. (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note
  • In: 35th Annual Meeting of the ICBDSR - 35th Annual Meeting of the International Clearinghouse for Birth Defects Surveillance and Research (Abano Terme (Padova), 13-17 September 2008). (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • Aims: Rare diseases (RD) are life-threatening or chronically debilitating diseases with prevalence of fewer than 5 cases among 10,000. For these conditions there is lack of scientific information, research, diagnosis, and treatment. To obtain epidemiological information the Italian Network of RD was set up in 2001. The Network is formed by Presidia specifically identified by each Region for diagnosis/treatment and by regional and national Registries. Among the 583 RDs eligible for free healthcare treatment, congenital malformation (CM) is the most frequent group with 254 diseases. Analysis of data and information available from both registries is therefore crucial to improve knowledge on the actual size of the CMs phenomenon also by activating an integrated system of registration. Methods: Linkage analysis was performed on data of the Tuscany Registries of CMs (RTDC) and of RDs (RTMR) for cases observed from 1992 to 2006 over approximately 420,000 surveilled resident births. Five specific rare CMs were selected: microcephaly, acrocephalosyndactyly, lissencephaly, oesophageal atresia, Down syndrome. Variables used for linkage were CM, names, date of birth, and residence. Results: Undernotification of rare CM cases more difficult to diagnose at birth like the lissencephaly was observed in the RTDC compared to the RTMR, while overlapping of record of cases emerged for other anomalies such as the Down syndrome. Linkage has allowed in some cases to better specify the diagnosis and to provide missing information. Conclusions: Use of different information sources has enabled to reduce undernotification of cases and to mutually validate information. (literal)
Note
  • Abstract (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • CNR-IFC, Pisa (literal)
Titolo
  • Rare diseases and congenital malformations integrated registry in Tuscany-Italy (literal)
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