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CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies.
Volpe-Aquino, Roberta M; Monlleó, Isabella L; Lustosa-Mendes, Elaine; Mora, Amanda F; Fett-Conte, Agnes C; Félix, Têmis M; Xavier, Ana C; Tonocchi, Rita; Ribeiro, Erlane M; Pereira, Rui; Boy da Silva, Raquel T; de Rezende, Adriana A; Cavalcanti, Denise P; Gil-da-Silva-Lopes, Vera L.
Afiliação
  • Volpe-Aquino RM; Department of Medical Genetics, School of Medical Sciences, State University of Campinas - Unicamp, Campinas, SP, Brazil.
  • Monlleó IL; Clinical Genetics Service, School of Medicine, University Hospital, Federal University of Alagoas - Ufal, Maceió, AL, Brazil.
  • Lustosa-Mendes E; Department of Medical Genetics, School of Medical Sciences, State University of Campinas - Unicamp, Campinas, SP, Brazil.
  • Mora AF; Assistance Center for Cleft Lip and Palate - CAIF-AFISSUR, Curitiba, PR, Brazil.
  • Fett-Conte AC; Department of Medical Genetics, School of Medical Sciences, State University of Campinas - Unicamp, Campinas, SP, Brazil.
  • Félix TM; Department of Molecular Biology, Medical School of São José do Rio Preto - FAMERP/FUNFARME, São José do Rio Preto, SP, Brazil.
  • Xavier AC; Medical Genetics Service, Clinical Hospital of Porto Alegre - HCPA, Porto Alegre, RS, Brazil.
  • Tonocchi R; Center for Research and Rehabilitation of Lip and Palate Lesions - CRRLPL, Centrinho Prefeito Luiz Gomes, Joinville, SC, Brazil.
  • Ribeiro EM; Assistance Center for Cleft Lip and Palate - CAIF-AFISSUR, Curitiba, PR, Brazil.
  • Pereira R; Medical Genetics Service, Hospital Infantil Albert Sabin - HIAS, Fortaleza, CE, Brazil.
  • Boy da Silva RT; Institute of Integral Medicine, Prof. Fernando Figueira - IMIP, Recife, PE, Brazil.
  • de Rezende AA; Pedro Ernesto University Hospital, State University of Rio de Janeiro, RJ, Brazil.
  • Cavalcanti DP; Department of Clinical and Toxicological Analysis, School of Pharmaceutical Sciences; Hospital Onofre Lopes (HUOL), Federal University of Rio Grande do Norte (UFRN), Natal, RN, Brazil.
  • Gil-da-Silva-Lopes VL; Perinatal Genetics Program, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil.
Birth Defects Res ; 110(1): 72-80, 2018 01 15.
Article em En | MEDLINE | ID: mdl-28949457
ABSTRACT

BACKGROUND:

The World Health Organization has recognized the relevance of databases on craniofacial anomalies since . To date, there is no universal standard instrument/database focused on risk factors, clinical and genetic data collection, and follow-up that enables comparison between different populations and genotype-phenotype correlation. Although studies have shown that specific genes would impact outcomes, knowledge is not sufficient to subsidize cost-effectiveness strategies for diagnosis, surgical decision, and a multi-professional approach toward personalized medicine.

METHODS:

Based on a clinical genetic approach, a Web-based application named CranFlow-Craniofacial Anomalies Registration, Flow, and Management has been developed. It prospectively collects clinical and genetic information for the Brazilian Database on Craniofacial Anomalies (syndromic and nonsyndromic orofacial cleft, 22q11.2 deletion syndrome, and other craniofacial related disorders). A comprehensive list of CranFlow's features is provided.

RESULTS:

We present preliminary results on 1546 cases already recorded and followed, which allows recognizing 10% of diagnosis changes.

CONCLUSION:

The identification of risk factors, consistent genetic approach associated with clinical data and follow-up result in valuable information to develop and improve personalized treatment and studies on genotype-phenotype correlation. Adoption of CranFlow in different clinical services may support comparison between populations. This application has the potential to contribute to improvements in healthcare, quality of services, clinical and surgical outcomes, and the standard of living of individuals with craniofacial anomalies. Birth Defects Research 11072-80, 2018. © 2017 Wiley Periodicals, Inc.
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 2_ODS3 Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: Birth Defects Res Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 2_ODS3 Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: Birth Defects Res Ano de publicação: 2018 Tipo de documento: Article