Genetic Predisposition To Disease
Mostrando 25-36 de 106 artigos, teses e dissertações.
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25. TCF7L2 gene rs7903146 polymorphism role in the brazilian population e its application in type 2 diabetes risk prediction / Papel do polimorfismo rs7903146 do gene TCF7L2 na população brasileira e sua aplicação na predição de risco de diabetes tipo 2
Os polimorfismos do gene TCF7L2 têm sido fortemente associados com risco de desenvolvimento de diabetes mellitus em populações de diversas origens étnicas. No presente estudo, investigou-se se esta associação se confirma em diferentes populações brasileiras e qual seu efeito sobre o desempenho de um modelo de predição de risco de diabetes mellitus
Publicado em: 2009
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26. Analise critica da expressão do gene da mucina 1(MUC1) no carcinoma papilifero da tireoide : correlações clinicas e anatomo-patologicas / MUC1 critical gene expression analysis in th papillary thyroid cancer : clinical and pathological correlations
The over expression of MUC1 has been related with the worst prognosis in malignancies like breast and pancreas cancer. We know that around 20% of the patients with differentiated thyroid cancer (DTC) can develop local and/or distant recurrences and because of that we decide to analyze the MUC1 gene in patients with DTC and tried to relate it with clinical an
Publicado em: 2009
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27. Modificadores de penetrância de mutações germinativas no gene TP53 em famílias brasileiras com diagnóstico clínico da síndrome de Li-Fraumeni e Li-Fraumeni like: impacto dos polimorfismos intragênicos do TP53 e de genes / Genetic modifiers of germline TP53 mutation in Brazilian families with Li-Fraumeni and Li-Fraumeni Like syndromes: impact of TP53 intragenic polymorphisms and p53 regulatory genes
Li-Fraumeni syndrome (LFS) and its variant like (LFL) are associated with germline mutations in the TP53 gene and predispose to a variety of cancers at an earlier age. We analyzed 91 LFS/LFL families from southern Brazil for germline mutations in TP53 and polymorphisms in TP53 (PIN2, PIN3, PEX4) and MDM2 (309T-G). The germline TP53 mutation R337H was found i
Publicado em: 2008
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28. Mutação em NRAS causa uma síndrome autoimune linfoproliferativa humana / NRAS mutation causes a human autoimmune lymphoproliferative syndrome
The p21 RAS subfamily of small GTPases, including KRAS, HRAS, and NRAS, regulates cell proliferation, cytoskeletal organization and other signaling networks, and is the most frequent target of activating mutations in cancer. Activating germline mutations of KRAS and HRAS cause severe developmental abnormalities leading to Noonan, cardio-facial-cutaneous and
Publicado em: 2008
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29. Evaluation of polymorphisms of matrix metalloproteinases genes in prostate cancer / Avaliação de polimorfismos dos genes das metaloproteinases da matriz no câncer de próstata
Introduction: Prostate cancer (PCa) is the most frequent tumor in males in Brazil. Research has been directed for the identification of molecular markers that can predict the PCa predisposition and prognosis. Single nucleotide polymorphisms (SNPs) are genome variations, present in a frequency of 1% or more. The matrix metalloproteinases (MMPs) are a family o
Publicado em: 2008
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30. Estudo do poliformismo genético na hepatite auto-imune na infância: busca de genes e haplótipos de suscetibilidade / Study of genetic polymorphism in children: searching for susceptibility genes and haplotypes
A hepatite auto-imune (HAI) é uma doença inflamatória crônica do fígado, de etiologia desconhecida, que acomete preferencialmente mulheres, com destruição progressiva do parênquima hepático e que, sem tratamento imunossupressor, evolui freqüentemente para cirrose. É uma doença rara na infância, com menos de 10% dos pacientes com doença hepátic
Publicado em: 2008
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31. Herdabilidade dos fatores envolvidos na síndrome metabólica / The heritability of metabolic syndrome factors
Many studies have been conducted in different populations aiming at the identification of the proportion of total phenotypic variance that is attributable to genetic effects. The heritability of Metabolic Syndrome (MS) factors is expected to differ between populations because of the different distribution of environmental risk factors, as well as the genetic
Publicado em: 2007
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32. Estudo de fatores relacionados ao controle da tuberculose: resistência às drogas, transmissão e suscetibilidade do hospedeiro. / Study of factors related to the control of tuberculosis: resistance to drugs, transmission and host susceptibility.
Tuberculosis resurged in the 90s after having been considered to be under control and is now a serious public health problem with social and economic ramifications. To understand the factors involved in the transmission and the disease, it is necessary to understand the three fundamentals of the disease: the environment, bacillus and host. This work evaluate
Publicado em: 2007
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33. Avaliação clinico-laboratorial e estudo da associação entre dois polimorfismos na região promotora do gene VEGF em pacientes diabeticos tipo 1 com e sem retinopatia diabetica proliferativa / Diabetes Mellitus Type 1, proliferative diabetic retinopathy, vascular endothelial growth factor, single nucleotide polymorphisms
Diabetic retinopathy is a frequent complication of diabetes mellitus type 1 and almost all patients develop it after twenty years of disease. The causes of these complications are not clear, but several environmental factors such as chronic hyperglicaemia may act in this predisposition, however, it is not clearly understood why some individuals develop it in
Publicado em: 2006
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34. A computational approach for single nucleotide polymorphism discovery / Uma abordagem computacional para determinação de polimorfismo de base unica
Genomic research is of great interest in the medical field. Therefore, understanding how genes impact the ocurrence of diseases is of significant relevance, so that proper diagnosis can be made and appropriate drugs can be developed. Most genes present great variantion and allele frequency, known as polymorphism. These variantions may be key to understanding
Publicado em: 2006
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35. Historia familial de cancer nos pacientes com diagnostico de cancer de colon e reto no Hospital de Clinicas da Unicamp / Family history of cancer in patients with diagnosis of colorectal cancer at Unicamp s University Hospital
O câncer de cólon e reto é a quinta causa de mortalidade por câncer no Brasil. Sua taxa de mortalidade vem apresentando um aumento contínuo desde 1979. Entre os fatores de risco mais importantes para essa doença está a história familial de câncer de cólon e reto ou de pólipos adenomatosos. O propósito do presente estudo foi investigar a qualidade
Publicado em: 2006
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36. A hipertensão arterial refrataria : caracterização fenotipica, avalliação cardiovascular morfo-funcional e correlação com polimorfismos geneticos de sistema renina-angiotensina e da sintase endotelial do oxido nitrico / Refractory hypertension : phenotypic characterization, cardiovascular morpho-functional assesssment and correlation with the renin-angiotensin-aldosterene and endothelial nitric oxide synthase gene polymorphisms
Refractory hypertension (HAR) is defined, according to the Seventh Joint National Committee (JNC VII), when the systolic arterial pressure remains above 140 mmHg and the diastolic arterial pressure above 90 mmHg even when taking three or more classes of anti-hypertensive agents including full-dose of a diuretic and the other agents at sub maximum doses with
Publicado em: 2006