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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies

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Author(s):
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Volpe-Aquino, Roberta M. [1] ; Monlleo, Isabella L. [2] ; Lustosa-Mendes, Elaine [1, 3] ; Mora, Amanda F. [1] ; Fett-Conte, Agnes C. [4] ; Felix, Temis M. [5] ; Xavier, Ana C. [6] ; Tonocchi, Rita [3] ; Ribeiro, Erlane M. [7] ; Pereira, Rui [8] ; Boy da Silva, Raquel T. [9] ; de Rezende, Adriana A. [10, 11] ; Cavalcanti, Denise P. [12] ; Gil-da-Silva-Lopes, Vera L. [1]
Total Authors: 14
Affiliation:
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[1] State Univ Campinas Unicamp, Sch Med Sci, Dept Med Genet, Campinas, SP - Brazil
[2] Fed Univ Alagoas Ufal, Univ Hosp, Sch Med, Clin Genet Serv, Maceio, AL - Brazil
[3] CAIF AFISSUR, Assistance Ctr Cleft Lip & Palate, Curitiba, PR - Brazil
[4] FUNFARME, Med Sch Sao Jose do Rio Preto FAMERP, Dept Mol Biol, Sao Jose Do Rio Preto, SP - Brazil
[5] Clin Hosp Porto Alegre HCPA, Med Genet Serv, Porto Alegre, RS - Brazil
[6] Centrinho Prefeito Luiz Gomes, CRRLPL, Joinville, SC - Brazil
[7] Hosp Infantil Albert Sabin, Med Genet Serv, Fortaleza, Ceara - Brazil
[8] Prof Fernando Figueira IMIP, Inst Integral Med, Recife, PE - Brazil
[9] Univ Estado Rio De Janeiro, Pedro Ernesto Univ Hosp, Rio De Janeiro, RJ - Brazil
[10] Fed Univ Rio Grande Norte UFRN, Sch Pharmaceut Sci, Dept Clin & Toxicol Anal, Natal, RN - Brazil
[11] Fed Univ Rio Grande Norte UFRN, Hosp Onofre Lopes HUOL, Natal, RN - Brazil
[12] Univ Estadual Campinas, Dept Med Genet, Perinatal Genet Program, Fac Med Sci, Campinas, SP - Brazil
Total Affiliations: 12
Document type: Journal article
Source: BIRTH DEFECTS RESEARCH; v. 110, n. 1, p. 72-80, JAN 15 2018.
Web of Science Citations: 2
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. MethodsBased on a clinical genetic approach, a Web-based application named CranFlowCraniofacial Anomalies: Registration, Flow, and Management ha bseen 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. ResultsWe present preliminary results on 1546 cases already recorded and followed, which allows recognizing 10% of diagnosis changes. ConclusionThe 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 110:72-80, 2018. (c) 2017 Wiley Periodicals, Inc. (AU)

FAPESP's process: 12/51799-6 - Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts
Grantee:Vera Lúcia Gil da Silva Lopes
Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)