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Implementing the Brazilian Database on Orofacial Clefts

机译:实施巴西的颌面裂数据库

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摘要

Background. High-quality clinical and genetic descriptions are crucial to improve knowledge of orofacial clefts and support specific healthcare polices. The objective of this study is to discuss the potential and perspectives of the Brazilian Database on Orofacial Clefts. Methods. From 2008 to 2010, clinical and familial information on 370 subjects was collected by geneticists in eight different services. Data was centrally processed using an international system for case classification and coding. Results. Cleft lip with cleft palate amounted to 198 (53.5%), cleft palate to 99 (26.8%), and cleft lip to 73 (19.7%) cases. Parental consanguinity was present in 5.7% and familial history of cleft was present in 26.3% subjects. Rate of associated major plus minor defects was 48% and syndromic cases amounted to 25% of the samples. Conclusions. Overall results corroborate the literature. Adopted tools are user friendly and could be incorporated into routine patient care. The BDOC exemplifies a network for clinical and genetic research. The data may be useful to develop and improve personalized treatment, family planning, and healthcare policies. This experience should be of interest for geneticists, laboratory-based researchers, and clinicians entrusted with OC worldwide.
机译:背景。高质量的临床和遗传学描述对于提高对颌面部裂痕的认识并支持特定的医疗政策至关重要。这项研究的目的是讨论巴西颌面裂数据库的潜力和前景。方法。从2008年到2010年,遗传学家在八种不同的服务中收集了370位受试者的临床和家族信息。使用国际系统对案件进行分类和编码,对数据进行集中处理。结果。 cases裂伴with裂者198例(53.5%),c裂者99例(26.8%),唇裂者73例(19.7%)。 5.7%的父母有血缘关系,而26.3%的受试者有家族性裂痕史。相关的主要缺陷和次要缺陷率为48%,有症状的病例占样本的25%。结论。总体结果证实了文献。所采用的工具是用户友好的,可以合并到常规患者护理中。 BDOC代表了用于临床和遗传研究的网络。该数据可能有助于开发和改善个性化治疗,计划生育和医疗保健政策。遗传学家,实验室研究人员和全球范围内委托OC的临床医生都应该对这种经验感兴趣。

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