Estudo de polimorfismos em genes relacionados ao metabolismo do ácido fólico e sua associação com o desenvolvimento de fendas orais não-sindrômicas

The congenital facial clefts are characterized by incomplete formation of the structures that separate the oral and nasal cavity. It is known that several environmental and genetic factors are involved in its development, among these, polymorphisms associated with folic acid metabolism have been investigated. In this sense, the objective was to observe the frequency of polymorphisms C677T and A1298C methylenetetrahydrofolate reductase gene (MTHFR), methionine synthase A2756G of (MTR), A66G of methionine synthase reductase (MTRR) A80G and the reduced folate carrier (RFC1) in patients with non-syndromic oral clefts, trying to match them with their development. Methods: We studied 140 patients with non-syndromic oral clefts and their mothers and 175 control subjects with their mothers, who underwent a questionnaire to obtain family information. Were collecting blood for DNA extraction from patients and their mothers to identify the genotypes of both by PCRRFLP, in addition to carrying out the determination of glucose, AST, ALT and serum creatinine, folic acid and vitamin B12 Serum and plasma homocysteine, and the hemogram. Results: Most patients have cleft lip and palate (55.8%), followed by isolated cleft palate (24.2%) and cleft lip (20%). Regarding gender, 62% of patients were male and 48% female and, after subdivision of the type of screwdriver according to sex was found a prevalence of males in the cracks of the type lip and palate (69 %) and lip (69.2%) and in the case of cleft palate was a female predominance (59%). The average concentration of serum folate in the group of mothers of cleft patients was significantly lower (13.8 ± 2.4 ng / mL) compared with the group of mothers of control subjects (18.8 ± 3.4 ng / mL) This was also observed for the group of cleft children as compared to controls, the dosage of folic acid had a significant difference with values of 15.6 ± 0.6 (ng / mL) and 17.9 ± 0.6 (ng / mL), respectively. For the biochemical measurements of glucose, AST, ALT and creatinine were not statistically different, nor was observed for haematological parameters performed. In assessing the frequency of polymorphisms C677T and A1298C MTHFR, A2756G MTR, MTRR A66G and A80G of the RFC1 there was no statistically significant difference in genotype distribution between cases and controls both for mothers and in the cleft. Conclusion: Although not observed association of polymorphisms with the development of cracks, the decrease in serum folate in the group of cleft patients and their mothers may reflect a disturbance in the metabolism of this metabolite, necessitating further studies such as studies methylation and expression to further elucidate the involvement of folate in the development of oral clefts

Registro da informação sobre nascidos vivos no nordeste: uma avaliação da evolução do SINASC entre 2000 e 2010

Os nascimentos ocorridos em uma população consistem em informação de grande valia para diversos estudos e planejamento de políticas públicas. O Sistema de informações sobre Nascidos Vivos (SINASC) representa uma promissora fonte de informação sobre o tema, uma vez que coleta continuamente e no âmbito municipal, dados sobre nascimentos. Tendo em vista a necessidade de avaliação contínua do SINASC e o panorama do declínio da fecundidade no Nordeste, objetivou-se avaliar a qualidade das informações provenientes do SINASC para o Nordeste, estados e microrregiões, nos anos 2000 e 2010, utilizando o Censo Demográfico como informação de referência, avaliando a cobertura do SINASC e identificando níveis e padrões de fecundidade. Pretendeu-se ainda verificar a relação entre os níveis de fecundidade, o grau de cobertura do SINASC e as condições socioeconômicas das microrregiões sintetizadas pelo Índice Social de Desenvolvimento Municipal (ISDM), utilizando-se a análise de cluster, associada à análise de variância (ANOVA) e o teste de Tukey. Por último, analisou-se a incompletude no preenchimento dos campos da Declaração de Nascido Vivo (DNV). De acordo com os resultados, observou-se que houve ampliação da qualidade das informações do SINASC no período estudado, resultando em uma maior aproximação das TFTs oriundas das duas fontes de dados consideradas no estudo. Maranhão e Paraíba foram os estados com maiores ganhos em cobertura das TFTs no período, e os estados do Rio Grande do Norte e Sergipe revelaram um grau de cobertura ligeiramente inferior em 2010 frente aos resultados de 2000, bem como ainda persistem várias microrregiões com TFTs oriundas do SINASC bem abaixo daquelas estimadas pelo Censo. Na verificação da associação entre o ISDM, TFTs e cobertura, a análise de cluster resultou em três agrupamentos, GrISDM A com melhores coberturas, ISDM e mais baixas TFT; GrISDM B , intermediário e GrISDM C com piores coberturas, ISDM e TFT mais altas. Notou-se a evolução das condições socioeconômicas no Nordeste, tendo o GrISDM A passado de 8% do total de microrregiões em 2000 para 37% em 2010. Reiterou-se ainda que quanto melhores as condições socioeconômicas de uma população, menores são as TFTs e melhores as coberturas do SINASC. A análise de variância apontou interações significativas entre o ano estudado versus ISDM (p-valor < 0,016) e o ano versus fonte de informação (p-valor < 0,020), e o teste Tukey apontou que não houve similaridade entre as médias das TFT das fontes Censo versus SINASC no período, fato que aponta para a captação ainda deficiente do SINASC nas microrregiões. O resultado da análise de variância da cobertura do SINASC em relação ao Censo apresentou uma interação significativa entre as variáveis UF versus Ano (p-valor < 0,0001), causada pelos estados que apresentaram queda de cobertura entre 2000 e 2010. Quanto à incompletude dos itens da DNV, evidenciou-se uma melhor coleta no período, embora alguns itens ainda careçam de atenção, como o apgar no 1º e 5º minuto e ocupação da mãe, sendo esta a que apresenta maiores percentuais de informações ignoradas. Destaca-se a possibilidade de preenchimento inconsistente nas variáveis referentes ao histórico de gestações anteriores, com o uso da informação zero inserida no lugar da informação ignorado . Concluiu-se que o SINASC é uma importante base de dados sobre nascimentos e que dispõe de dados confiáveis para o acompanhamento dos nascimentos e de seu panorama epidemiológico no Nordeste brasileiro, embora para alguns estados, assim como para algumas microrregiões, ainda faz-se necessária a ampliação da cobertura do Sistema. As informações constantes na DNV podem servir como embasamento para diversos estudos sobre as condições epidemiológicas dos nascituros e das suas mães, e dos indicadores baseados as informações dos nascimentos

O dia mais feliz da minha vida: a entrada na universidade segundo os alunos recém-ingressos no curso de Pedagogia da UFRN(2004.1)

The present work, based on the methodological principles of the Comprehensive Discourse Analysis, aimed, through the speech of twelve newly arrived students at the Pedagogy course of the Federal University of Rio Grande do Norte, to understand the moment students start university. It also aimed to analyze the relationship between the schools they were coming from and university entrance as well as the relationship between university and their new students. In the first part of the work, which focused on school knowledge, a comprehensive listening of the speeches of the students led primarily to a distinction, established by the students, between public and private schools, a distinction especially based on the view of superiority of private schools against public ones. The abovementioned interpretation is found in the discussion of the structural duality of Brazilian education which, historically, offers different pedagogical appliances among students of more priviledged social classes and those who come from lower levels of society. The overcome of this duality, aspired by the Brazilian Constitution of 1988, was stopped by the advent of a new economic model neoliberalism, which reinforced the differences between public and private when it prioritized the market on the economic, political and social relations, including educational projects. Impoverishment of public institutions and pauperization of the work of professors affected also the relationship between teachers and studens at the current institution. This is how the teacher becomes the greatest villain at the public management system. All of these references concerning differences in the quality of teaching at public and private schools, expressed by the students interviewed, however, were centered in the preparation for the entrance exam, called vestibular, thus showing a view that the relationship between the student and the school he came from is of a propedeutic kind and even so, reduced to a preparation for an entrance exam. In the second part of the work, which analyzed the relationship between newly arrived students and their university, it was noticed that the latter represents a whole new world. This world is seen as the change at the student´s social statute for now he is grown, takes more responsibilities and is socially respected. This change of attitude established by society and the discovery of a new world which requires more independence from the students, creates in them feelings of pride and fear and they feel insecure when it comes to making decision in the campus because now their decisions deliver a greater load of responsibility. This is when students understand they need to develop autonomy, which is seen, in this work, as the capacity to make conscious decisions. Nevertheless students expressed an understanding of autonomy as something that comes as a gift for those who enter university and not as a process that is constructed from social experiences. For these students, the need to be autonomous refers to the relationships with their teachers and the search for information. This search, however, is also related, according to interviews, to public school financial cuts, which penalize university, and to the lack of employers

O efeito da dessincronização circadiana sobre o metabolismo

The lost of phase relationship between rhythms and behaviour can, and often do, undesirable consequences. The purpose os study was to ascertain the effect of circadian desynchronization in T22 about metabolism of wistar rats. The subjects consisted of 24 animals separated in two groups: control (n=12) T24 with 8 weeks of aged and experimental group (n=12) T22, also with 8 weeks of aged. Both the groups were subject to register of locomotor actitivity, body temperature, body weight and food intake in all the experiment. And more, both the groups were subject to food deprivation, running in treadmill and forced swimming. The results show rhythm of locomotor activity and body temperature desynchronized. Dont exist diference in body weight between both the groups (T24 = 386,75±40,78g e T22 380,83±44,28g) . However, the food intake was different between the phases, light and dark, in intergroup and intragroup. The body temperature was not different in food deprivation. The same ocurred for running in treadmill and forced swimming. Since similar alterations occur in shift workers, it is proposed that the experimental paradigm presented in this manuscript is a useful model of shift work. That is, alterations in activity/rest cycles and consummatory behavior can affect the health of organism

Estudo da influência dos genes LRP5, TGFB1, IGF1 e IGF1R no metabolismo ósseo de pacientes com diabetes mellitus tipo 1

Conselho Nacional de Desenvolvimento Científico e Tecnológico - CNPq

A infecção por Leishmania infantum chagasi altera o metabolismo lipídico do hospedeiro

American visceral leishmaniasis (AVL), caused by Leishmania infantum chagasi (L.i.chagasi), stands as a public health problem in Brazil, with human and canine cases related in all states..Lipid metabolism can be modified in several status of infection. For example, experimental studies show that the cholesterol is necessary to internalization and replication of L.i.chagasi in macrophages through caveolar domains. Patients with AVL present low levels of cholesterol and a visible triglycerides increase. This work aimed to evaluate the lipid metabolism in several post-infection status by L.i.chagasi, including individuals with symptomatic infection (AVL), and asymptomatic. The levels of cholesterol, triglycerides, HDL and reactive C protein, were measured. Individuals with AVL were compared with individuals with assymptomatic infection and presented low levels of total cholesterol (128 ± 6.180 mg/dL vs. 158 ±5.733 mg/dL, p=0.0001), HDL (29 ± 1.746 mg/dL vs. 37 ± 1.647 mg/dL, p=0.0001), increased levels of triglycerides (149.5 mg/dL ± 12.72 vs. 78.00 ± 10.43 mg/dL, p=0.0095) and higher levels of reactive C protein (1.750± 0.4939 mg/dL vs. 0.40 ± 0.1707 mg/dL; p=0.0001). The expression of genes related to lipid metabolism, such as LXR-a, LXR-b, PPAR-a, PPAR-d, PPAR-g and APOE was evaluated by real time PCR. A reduction in the expression of those genes was found in the group of AVL patients corroborating the serum levels of the metabolites earlier quantified. Our findings suggest a modulation of metabolism of lipids, in the chronic phase of AVL, this could facilitate the survival of leishmania, due to the known reduction on the ability of macrophages in presenting antigens efficiently to the T cells due to the reduction in the cholesterol available, it results in a subversion of the host immunity.