979 resultados para U5-Cwc-21
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Pós-graduação em Ciência da Informação - FFC
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ABSTRACT: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated only in Southeast Brazilian patients. This study is the first report on the distribution of CYP21 mutations in patients from the Amazon region. Direct sequencing of the CYP21 gene identified at least one mutation in 96% of the studied chromosomes. The most common mutations found were IVS2-13A/C > G (36%), Q318X (12%), V281L (12%), 1760_1761insT (9%), Cluster E6 (7%), and P30L (7%). The worldwide most common mutations were identified among patients from the Amazon region at frequencies that may be expected for a population resulting from the admixture of Europeans (predominantly Portuguese), African Blacks and Amerindians, in proportions that differ from those estimated for South Brazilian populations. Interethnic mixture may explain the differences in the frequencies of some mutations between Brazilian patients from the Amazon and from the Southeast of the country. However, the differences found may also be due to variation in the number of patients with the different clinical forms of 21-hydroxylase deficiency in the studies carried out so far.
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Pós-graduação em Geografia - IGCE
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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CONTEXTO:Translocações robertsonianas (TR) estão entre os rearranjos estruturais balanceados mais comuns em humanos e compreendem a fusão da cromatina completa do braço longo de dois cromossomos acrocêntricos. No entanto, são raras as translocações não Robertsonianas envolvendo esses cromossomos.RELATO DE CASO:Nós descrevemos uma translocação não balanceada de novo envolvendo os cromossomos 15 e 21. A recém-nascida era filha de uma mãe de 29 anos e de um pai de 42 anos, casal não consanguíneo. Os achados clínicos levaram ao diagnóstico de síndrome de Down (SD) com defeitos cardíacos congênitos graves (persistência do canal arterial e defeito do septo atrioventricular completo), além de baixos comprimento e peso ao nascimento (< 5o e < 10o percentil em curvas de medidas específicas para SD, respectivamente). A análise citogenética convencional revelou o cariótipo 46,XX,der(15)(15pter→15q26.2
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This study was carried out to evaluate the effect of the inclusion of different linseed oil levels (0.0, 3.3, 6.6, or 9.9%) in iso-energy diets fed during the period of 21 to 56 days of age on the performance, carcass traits, and body composition of broilers. A total of 1,600 broilers were distributed according to a completely randomized experimental design consisting of four treatments with eight replicates of 40 birds per experimental unit. In the period of 21-42 days of age, weight gain increased, feed and calorie conversion ratios quadratically improved, and feed and metabolizable energy intakes linearly increased as dietary linseed oil level increased. Considering the entire experimental period, dietary linseed oil linearly increased weight gain and feed and energy intakes, and feed and calorie conversion ratios in a quadratic manner. On days 42 and 56, abdominal fat percentage and carcass yield were quadratically influenced by dietary linseed oil. Total body fat content at 56 days of age was quadratically influenced by dietary linseed levels.
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Pós-graduação em Educação para a Ciência - FC
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Introduction: Authority records interchange requires establishing and using metadata standards, such as MARC 21 Format for Authority Data, format used by several cataloging agencies, and Metadata Authority Description Schema (MADS), that has received little attention and it is a little widespread standard among agencies. Purpose: Presenting an introductory study about Metadata Authority Description Schema (MADS). Methodology: Descriptive and exploratory bibliographic research. Results: The paper address the MADS creation context, its goals and its structure and key issues related to conversion of records from MARC 21 to MADS. Conclusions: The study concludes that, despite its limitations, MADS might be used to create simple authority records in Web environment and beyond libraries context.
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)