12 resultados para Scholl adminstration

em Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho"


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Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.

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Pós-graduação em Psicologia do Desenvolvimento e Aprendizagem - FC

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Pós-graduação em Educação para a Ciência - FC

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Pós-graduação em Educação - FFC

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Pós-graduação em Psicologia do Desenvolvimento e Aprendizagem - FC

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Pós-graduação em Educação - FFC

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The enrollments in technical courses outgrew beyond 70% between 2002 and 2010. It has made fundamental to look after this educational segment because of the changes in the job market, associated with the promulgation of the Law #11.741, witch disentails the High Scholl from the Professional Education, points out to some better understanding of this population. This study intended to trace the profile of this student. The socioeconomic criteria by Abipeme (Brazilian Association of Market Research Institutes) was used, and the most important item was age, with a result higher than expected to this educational phase, about 24 years old. The respondents characterized themselves as pertaining to B and C economical classes.

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Pós-graduação em Educação - FFC