Navegando por Assunto "Fissura palatina"

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Acesso aberto (Open Access)
Avaliação de polimorfismos de genes metabolizadores de xenobióticos em pacientes com fissura labiopalatina atendidos no Estado do Pará
(Universidade Federal do Pará, 2013) KHAYAT, Bruna Cláudia Meireles; BURBANO, Rommel Mario Rodriguéz; http://lattes.cnpq.br/4362051219348099
Orofacial cleft palate or lip is one of the most common birth defects and several existing studies that relate to multifactorial causes malformation. Among the various environmental causes are the ethyl and maternal smoking habits, as well as the use of pesticides. The response of human embryo teratogenic agents is well known. However, it is known that different organisms metabolize differently the same chemical component, this is due to intrinsic genetic characteristics related to different enzymatic runs. Such differences can be investigated from the analysis of polymorphisms in genes related to metabolism of these xenobiotics, which may well be related to etiogênese palatine cleft lip. The objective of our study was to analyze polymorphisms in seven genes, PON1 ( rs662), PON1 ( rs854560 ), MTHFD1, CYP2E1, EPHX1, ABCB1, AHR, where a correlative analysis with environmental factors such as exposure to pesticides was performed in order to assess whether there is influence of different polymorphic variants and environmental interactions in such etiogênese of cleft Lip and Palate. The total number of samples analyzed were 166 subjects, 83 patients affected by cleft, with an average age of 7 years (SD 5 years) and 83 mothers of the same. In our samples, the males was 64 % of the total affected. A plug for the collection of epidemiological data was developed for the study, the biological material collected for analysis was blood. Statistical analysis was performed using the BioStat 5.3, SPSS 12.0 software and plink 1:07. Our result is four different analyzes for each polymorphism. Initially, we observed differences between genotypic frequencies found in affected and mothers of these populations and those of healthy individuals. This aimed to find differences among genotypes that may justify the genesis of FLP, after exposure of mothers and intrauterinamente of the children to pesticides. Secondly, we looked at whether there were differences between the affected and maternal genotypes, which could represent significant differences between these two groups of individuals (as the mothers, regardless of exposure to pesticides could have FLP if the genotype was of high importance) and which may be related to the FLP. In a third analysis, we observed that the genotypes found in individuals with FLP, are related to the reported pesticide exposure as an etiological factor of these malformations. Ultimately, we aim, through regression analysis to determine whether the genotypic characteristics of these targets of study, may have influenced the phenotype of the type of cleft, lip only be either palate or cleft lip. The distribution of types of cracks between affected was 12% only for chapped lips, only 19% to 69% palate and the cracks in our sample group reached the lip and palate.
Acesso aberto (Open Access)
Estudo da influência do uso de agrotóxicos e de polimorfismo do gene GSTT1 na etiologia de fissuras labiopalatais em pacientes do Estado do Pará
(Universidade Federal do Pará, 2014-08-28) MARTINS, Cláudia Maria da Rocha; BURBANO, Rommel Mario Rodriguéz; http://lattes.cnpq.br/4362051219348099
Birth defect or congenital malformation is any anatomic, metabolic or functional abnormality, inherited by a mechanism of Mendelian transmission or caused by a new mutation, a chromosomal alteration or physical aggression by an infectious, chemical or the fetus or embryo development . Its causes may be genetic or environmental, and, most often, are multifactorial origin, through the genetic predisposition factors interact with environmental factors triggers. In Pará state, a large number of individuals affected by Oral clefts are from rural areas, mainly in the northeastern state where it is notoriously indiscriminate use of pesticides harmful to human health, many of which have high potential teratogenic. The objective of our study was to investigate the association between the polymorphism (rs4630) in the GSTT1 gene and exposure to pesticides in etiology of oral clefts and analyze the pattern of changes in speech of patients according to the type of cleft. Eight three patients with cleft palate or lip, and of both sexes, and 83 mothers of these patients, all from the state of Pará, residing in rural and capital area were analyzed. Speech therapy and analyzes were performed with the blood of these individuals, the molecular analysis was performed. Statistical analysis was performed using the statistical software SPSS v.. 12.0 and BioEstat v. 5.0. Tests included testing multiple logistic regression test x2e the Fisher exact test. Our result consists of five different molecular analyzes. We found that the presence of the C allele in the genotype of the individual can influence the metabolism of xenobiotics and increase the risk to develop oral clift.