Programa de Pós-Graduação em Oncologia e Ciências Médicas - PPGOCM/NPO

URI Permanente desta comunidadehttps://repositorio.ufpa.br/handle/2011/4631

O Programa de Pós-Graduação em Oncologia e Ciências Médicas (PPGOCM) integra o Núcleo de Pesquisas em Oncologia (NPO) da Universidade Federal do Pará (UFPA). Trata-se do único centro de referência em pesquisa e formação de recursos humanos stricto sensu na área de oncologia na região Norte do Brasil. Os outros centros se concentram nas cidades do Rio de Janeiro e São Paulo.

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Acesso aberto (Open Access)
Associação de polimorfismos de biomarcadores do envelhecimento (TP53, MDM2, UCP2, HLA-G, IL-1a, IL-4 e NFkB1) com a capacidade funcional de idosos
(Universidade Federal do Pará, 2016-05-30) PEREIRA, Esdras Edgar Batista; SANTOS, Sidney Emanuel Batista dos; http://lattes.cnpq.br/9809924843125163; SANTOS, Ney Pereira Carneiro dos; http://lattes.cnpq.br/1290427033107137
INTRODUCTION: The functional capacity and overall functionality of the elderly is defined as the capacity to manage their lives or take care of yourself, which is influenced by the degree of autonomy and independence of the individual. In search of understanding of the mechanisms involved in healthy aging and maintenance of functional independence, several studies try to identify candidate genes that may establish the association of genotype with phenotype studied physical fitness and the decline and loss of independence in adulthood. OBJECTIVE: The objective of this study was to investigate the possible association between the variability of polymorphisms on biomarkers of aging (TP53, MDM2, UCP2, HLA-G, IL-1a, IL-4 and NFkB1) with the functional capacity of the elderly. MATERIAL AND METHODS: This is a comparative analytical cross-sectional study, developed from the clinical and functional evaluation and analysis of polymorphisms on biomarkers of aging. The clinical and functional analysis included an assessment of functional capabilities: basic activity of daily living (ABVD), instrumental activities of daily living (AIVD), advanced activities of daily living (AAVD) and functional status (PS-ECOG) functional systems: cognition (MEEM), humor (GDS-15), mobility (TUG) and risk of falls (TT), Nutritional Status (MAN) and Sarcopenia risk (PP). Eight polymorphisms were included (two TP53, MDM2, UCP2, HLA-G, IL-1a, IL-4 and NFkB1) were genotyped by a multiplex PCR reaction followed by capillary electrophoresis. Analysis of PCR amplicons was performed by electrophoresis using the ABI Prism sequencer 3130 and GeneMapper ID v.3.2 software. RESULTS: A total of 228 elderly, mostly women (62%), with about 70 years old on average, with an average comorbidity index of 4.48 (± 2.44) points, sedentary (53%), with a history smoking (58%) and possessing a predominantly European ancestry. It was found that polymorphisms of the TP53 gene, UCP2, HLA-G, IL-1a, IL-4 and NFkB1 significant differences in functional variables between genotypes. The variables that most differed between genotypes were functional status (PS-ECOG), mobility (TUG), risk of falls (TT) and the risk of sarcopenia (PP). This suggested a possible association of these polymorphisms with risk factors or protection, which in most cases were not significant. The NFkB1 gene polymorphism (rs28362491) was the only biomarkers that demonstrated significant association results. The II genotype of this polymorphism was associated with risk of sarcopenia (PP). The elderly who had this genotype showed a three-fold greater susceptibility to muscle loss related to aging, when compared to other genotypes of the same gene. CONCLUSION: Therefore, considering the results of this study, it is believed that the use of biomarkers of aging, as a population screening test may favor the identification of elderly patients with increased susceptibility to the development of organic modifications and functional disabilities. The identification of this risk allows the targeting of strategies for prevention, control and treatment of disabilities linked to physiological or pathological aging.
Acesso aberto (Open Access)
Identificação de portadoras de mutações do gene da hemofilia a na população Paraense
(Universidade Federal do Pará, 2017-02-01) PINTO, Iêda Solange de Souza; SANTOS, Sidney Emanuel Batista dos; http://lattes.cnpq.br/9809924843125163
Hemophilia A is an inherited X-linked bleeding disorder caused by a deficiency of coagulation FVIII, characterized by spontaneous or post-traumatic bleeding episodes, which can lead to physical incapacitation due to arthropathy and even death. The deficiency is the result of mutations on F8 gene. Diagnosis of Hemophilia A carrier status is important for genetic counseling as well as to provide treatment for symptomatic carriers, which, in most cases, are unaware of the fact. In this work, we intend to create the necessary methodology for the molecular identification of hemophilia A carriers, based on the analysis of 26 diagnosed patients, enrolled in the Centro de Hemoterapia e Hematologia do Pará, and their consanguineous relatives, likely carriers of the allele. The control group consisted of 110 males of the population of Belém. The research was based on analyzes of six STRs (Short Tandem Repeats) located in the 3' end region of the gene F8: CTT3, TAAA3, TTTA3, DXS10011, DXS7423, GATA31E08. The use of the six markers proved to be useful in the identification and in the exclusion of the carriers, and all the obligatory carriers were identified. This identification protocol can be routinely used to identify hemophilia A carriers and to provide genetic counseling in these women.

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