167 resultados para progresso genético


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Pós-graduação em Agronomia (Genética e Melhoramento de Plantas) - FCAV

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To establish guidelines based on cientific evidences for the management of cryopyrin associated periodic syndromes. The Guideline was prepared from 4 clinical questions that were structured through Pico (Patient, Intervention or indicator, Comparison and Outcome), to search in key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. 1215 articles were retrieved and evaluated by title and abstract; from these, 42 articles were selected to support the recommendations. 1. The diagnosis of Caps is based on clinical history and clinical manifestations, and later confirmed by genetic study. Caps may manifest itself in three phenotypes: FCAS (mild form), MWS (intermediate form) and Cinca (severe form). Neurological, ophthalmic, otorhinolaryngological and radiological assessments may be highly valuable in distinguishing between syndromes; 2. The genetic diagnosis with NLRP3 gene analysis must be conducted in suspected cases of Caps, i.e., individuals presenting before 20 years of age, recurrent episodes of inflammation expressed by a mild fever and urticaria; 3. Laboratory abnormalities include leukocytosis and elevated serum levels of inflammatory proteins; 4. Targeted therapies directed against interleukin-1 lead to rapid remission of symptoms in most patients. However, there are important limitations on the long-term safety. None of the three anti-IL-1β inhibitors prevents progression of bone lesions.

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Na busca de novos recursos genéticos capazes de produzir enzimas celulolíticas a baixas/médias temperaturas, o continente Antártico vem demonstrando ser um ambiente bastante promissor. Neste contexto, o objetivo do presente trabalho foi avaliar a influência de diferentes fatores na produção de celulases por fungos filamentosos isolados de amostras da Antártica visando otimização do processo possível aplicação das mesmas na produção de etanol de segunda geração. Foram utilizados os fungos L1-1 e E5B da Central de Recursos Microbianos da UNESP (CRM-UNESP) os quais foram previamente selecionados devido ao potencial celulolítico. O delineamento experimental foi utilizado para analisar a influência de variáveis independentes na produção enzimática. A quantificação da celulase foi realizada pelo método do ácido dinitrosalicílico (ADNS). Antes de iniciar à aplicação dos planejamentos experimentais, foram adotadas estratégias para tentar minimizar e otimizar ao máximo o potencial dos isolados, as quais resultaram no estabelecimento da melhor agitação e a temperatura para a produção de celulase em 150 rpm e 20°C, para os dois isolados estudados. Inicialmente os fungos E5B e L1-1 apresentavam suas produções enzimáticas em 0,233U/mL e 0,342U/mL, respectivamente (antes da aplicação dos desenhos experimentais). Durante a condução do planejamento experimental do tipo Plackett&Burman(PB), foi verificada a preferência dos isolados pela fonte de carbono glicose, com efeito significativo na produção de celulases para os dois isolados. Tendo em vista o seu elevado custo comercial, foram realizados estudos com a sacarose, uma fonte de carbono alternativa e mais barata, bem como indutores enzimáticos. Após três planejamentos experimentais do tipo PB, foi selecionado o isolado L1-1 como o melhor produtor da enzima celulase. Após a condução de um quarto planejamento experimental do tipo Fatorial Fracionado 24-1, as...

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The most important role played by the enzyme Glucose- 6-Phosphate Dehydrogenase (G6PD) in erythrocyte metabolism is in generating energy and reducing power used to protect the cell against oxidative attack. G6PD deficiency is the erythroenzymopathy that most frequently causes hemolytic anemia, and more than 130 molecular variants have already been identified. The aim of this study was to analyze the genetic mutations in the G6PD-deficient adult males in the population of the region of Araraquara, São Paulo State. Out of 5087 male blood donors, 89 were deficient for G6PD, as confirmed by assaying the enzyme activity and electrophoresis on cellulose acetate. Thus, a frequency of 1.75% of G6PD-deficient patients was found, this value being similar to other investigations in São Paulo state. Molecular analysis was performed by amplification of genomic DNA with specific primers and digestion with restriction enzymes. In 96.6% of the patients, the G6PD A¯ variant was observed, with mutations at residues 376(A→G) and 202(G→A). Mean G6PD specific activity among the patients was 1.31 IU.g Hb-1.min-1 at 37ºC, that is 10.8% of the normal activity of the G6PD B enzyme. The variant forms G6PD A¯ 680(G→T) and 968(T→C) were not found. In 3.4% of the deficient individuals, the G6PD Mediterranean variant was found, with a mutation at 563(C→T). In these cases, mean enzymatic activity was 0.25 IU.g Hb-1.min-1 at 37ºC, or 2.1% of the enzymatic activity of G6PD B. The use of traditional techniques, allied to the identification of the different molecular variants, is important for the understanding of the structural and functional properties and hemolytic behavior of the red blood cells of the patient.

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This study inserts itself in the research line conceptions on the nature of the science (CNC) in the school atmosphere. More specifically, on that teacher of natural sciences who claims not to be interested in philosophy, it is usually noticed a tendency to understand and to teach a vision of a ready/ finished and unalterable science, which directly influences the students conception of science. Discussed here is the application of a didactic rational reconstruction in high school, the results of which are compatible with a more epistemologically acceptable educational concep tion on the nature of science as something provisory, variable and controversial.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Este trabalho tratou sobre o regime de progressão continuada, que foi implantado na rede pública de ensino do Estado de São Paulo em 1998, a partir da Deliberação do Conselho Estadual de Educação (CEE-SP) nº 09/1997, que pretendia uma reorganização escolar com a mudança do sistema seriado para a estruturação em ciclos.Criando assim novas formas de avaliação dos alunos e ainda, com a intenção de diminuir o fluxo da evasão escolar, abrir novas vagas, desonerar os cofres públicos, superar a fragmentação do currículo do ensino organizado em séries, entre outras demandas. Por meio de investigação qualitativa, levantamento bibliográfico e pesquisa documental,examinou-seo proposto com a implantação do regime de progressão continuada e dos ciclos no Estado de São Paulo e como ocorria a prática de promoção/aprovação automática dos alunos. Levantou-seos aspectos históricos e políticos relacionados a esta política pública educacional brasileira, indicando os inúmeros obstáculos enfrentados pelos professores e demais atores envolvidos nessa proposta, que se pretendeu progressista e includente, mas que, como podese perceber, uma vez que muitas das intenções estabelecidas na legislação não foram asseguradas, levou ao insucesso do regime de progressão continuada e da organização do ensino por ciclos no Estado Paulista, acarretando no Projeto de Lei nº 857/2015, que ainda se encontra em análise para posterior votação e indaga sobre a progressão continuada ter se transformado em promoção automática, na tentativa de destituí-la, com base nos resultados acerca da qualidade da educação básica das redes públicas do Estado de São Paulo, transparecidos, principalmente, a partir das avaliações externas e dos índices obtidos por elas

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Pós-graduação em Genética e Melhoramento Animal - FCAV

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The real role of renal transplantation in hepatic fi brosis progression caused by hepatitis C virus is still unpredictable. Histological evaluation of the liver is the best form to estimate fi brosis evolution, although semiquantitative analysis carries important limitations. Objective: To apply a morphometric quantitative assay on hepatic fi brosis progression in renal recipients with hepatits C. Methods: Thirty patients were initially evaluated, but only seven were included. They underwent the fi rst biopsy near the transplantation date and the second biopsy at least 4 years later. The immunosuppressant therapy adopted in all cases was azatioprine and micofenolate. Fibrosis progression rate (FPR) was calculated before and after the surgery date in each patient according to Metavir score and morphometric analysis. Results: The FPR calculated by Metavir score showed no statistical difference between pre- and post-transplantation (p=0.9). The FPR calculated by the morphometric analysis was 0.58 ± 0.78 before transplantation and 3.0 ± 3.3 after the surgery, with statistical signi- fi cance between these values (p=0.0026). Conclusion: In the sample assessed, the progression of hepatic fi brosis was documented and quantifi ed only by the morphometric analysis, which is as a promising approach to histological evaluation of these patients.

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Although equines have participated in the forming and development of several civilizations around the world since their domestication 6,000 years ago in comparison to other species that have zootechnical interest, few researches have been done related to animal breeding area, especially in Brazil. Some reasons for that are difficulties associated with the species as well as operational aspects. However, developments in genetics in the last decades contributed to a better understanding of the traits related to reproduction, heath, behavior and performance of domestic animals, including equines. Recent technologies as next generation sequencing methods and the high density chips of SNPs for genotyping allowed some advances in the researches already done. These researches used basically the candidate gene strategy, and identified genomic regions related to diseases and syndromes and, more recently, the performance in sport competition and specific abilities. Using these genomic analysis tools, some regions related to race performance have been identified and based on this information; genetic tests to select superior animals for racing performance have started to be available in the market.