978 resultados para SINDROME DE DOWN


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A Síndrome de Down, ou trissomia do 21 é o distúrbio cromossômico mais freqüente em recém-nascidos. Esta trissomia é na maioria das vezes (95% dos casos) decorrente da não disjunção meiótica materna durante a meiose I. Com exceção da idade materna avançada, outros fatores de risco para não disjunção meiótica não estão bem estabelecidos. Estudos preliminares recentes sugerem que o metabolismo anormal do folato e polimorfismos no gene MTHFR (C677T e A1298C) podem ser fatores de riscos materno para Síndrome de Down. Com objetivo de verificar a freqüência dos polimorfismos no gene MTHFR (C677T e A1298C) e uma possível associação destes, como fatores de risco materno para Síndrome de Down, realizamos um estudo do tipo caso-controle, em 41 mulheres de filhos com a Síndrome de Down (freqüentadoras da APAE) e 39 controles da cidade de Belém-PA. Nossos resultados demonstraram que a distribuição dos genótipos para os dois polimorfismos entre as mães investigadas e controles se encontravam em equilíbrio de Hardy Weinberg. Não encontramos diferenças entre as freqüências nas mães investigadas e mães controles. Esses resultados sugerem que estas mutações isoladas e/ou em forma de haplótipos, não podem ser consideradas como risco materno para Síndrome de Down, para população analisada e sim polimorfismos comuns dentro desta população.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Although highly weathered soils cover considerable areas in tropical regions, little is known about exploration by roots in deep soil layers. Intensively managed Eucalyptus plantations are simple forest ecosystems that can provide an insight into the belowground growth strategy of fast-growing tropical trees. Fast exploration of deep soil layers by eucalypt fine roots may contribute to achieving a gross primary production that is among the highest in the world for forests. Soil exploration by fine roots down to a depth of 10 m was studied throughout the complete cycle in Eucalyptus grandis plantations managed in short rotation. Intersects of fine roots, less than 1 mm in diameter, and medium-sized roots, 1-3 mm in diameter, were counted on trench walls in a chronosequence of 1-, 2-, 3.5-, and 6-year-old plantations on a sandy soil, as well as in an adjacent 6-year-old stand growing in a clayey soil. Two soil profiles were studied down to a depth of 10 m in each stand (down to 6 m at ages 1 and 2 years) and 4 soil profiles down to 1.5-3.0 m deep. The root intersects were counted on 224 m(2) of trench walls in 15 pits. Monitoring the soil water content showed that, after clear cutting, almost all the available water stored down to a depth of 7 m was taken up by tree roots within 1.1 year of planting. The soil space was explored intensively by fine roots down to a depth of 3 m from 1 year after planting, with an increase in anisotropy in the upper layers throughout the rotation. About 60% of fine root intersects were found at a depth of more than 1 m, irrespective of stand age. The root distribution was isotropic in deep soil layers and kriged maps showed fine root clumping. A considerable volume of soil was explored by fine roots in eucalypt plantations on deep tropical soils, which might prevent water and nutrient losses by deep drainage after canopy closure and contribute to maximizing resource uses.

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Pós-graduação em Educação - FFC

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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The project, developed at the Health and Education Studies´ Center, in the Unity of the Science and Philosophy’s College, UNESP, Marilia´s campus, had as goal the development of a study about the appropriation of writing by children with Down ’s syndrome. Five children, from 10 to 13 years old, on different situations of scholar levels, were took part in the project. As research procedure, it was developed weekly pedagogical interventions, based on HistoricalCultural Theory. At the beginning, the group presented different dimensions of approximation with the writing universe. It was observed advances on the graphic representation and on the individual trials of writing. Two childrens began to build small texts, one of the children is on the beginning of the alphabetic writing and two other children continue to present difficulties, getting close of the writing in a very not confortable way, stuck on the scholar formality and a direct mediation to the words constitution is needed.

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The syndrome of Gilles de la Tourette (ST) can cause marked distress in several areas of functioning. The literature indicates that children with TS may present diffi culties in relationships with teachers and peers. This case study exploration aimed to discover and describe the perceptions of parents and teachers of child with TS enrolled in regular school, regarding the child-school relationships. Interviews were conducted with parents of a 8 years-old child, diagnosed with ST and three educators. Participant observation of everyday children’s school was also performed. The set of reports reveals doubts on the part of respondents to identify involuntary behaviors of the child or to identify intentional actions. It was observed that there is still no connection between parents and educators in meeting the needs of the child. It is assumed that intervention strategies in a multidisciplinary perspective could help parents, educators and health care professionals act in a coordinated way in order to improve the school and social interaction of the child.

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The project, developed at the Health and Education Studies ́ Center, in the Unity of the Science and Philosophy’s College, UNESP, Marilia ́s campus, had as goal the development of a study about the appropriation of writing by children with Down ’s syndrome. Five children, from 10 to 13 years old, on different situations of scholar levels, were took part in the project. As research procedure, it was developed weekly pedagogical interventions, based on Historical-Cultural Theory. At the beginning, the group presented different dimensions of approximation with the writing universe. It was observed advances on the graphic representation and on the individual trials of writing. Two children began to build small texts, one of the children is on the beginning of the alphabetic writing and two other children continue to present difficulties, getting close of the writing in a very not comfortable way, stuck on the scholar formality and a direct mediation to the words constitution is needed.

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O objetivo nesta pesquisa consiste em fazer um trabalho de prevenção junto às instituições APAE (Associação de Pais e Amigos de Excepcionais) e ASIN (Associação de síndrome de Down), ambas de São José dos Campos e ASPAD (Associação de Pais e Amigos de síndrome de Down) de Jacareí, orientando e avaliando sobre a presença ou não da instabilidade atlanto-axial (IAA), assim como verificar a prevalência dessa anormalidade nesses indivíduos. Foram convidados a participar do projeto todos os indivíduos das três instituições de assistência à SD, tendo formado uma amostra com 68 indivíduos, com idades entre 2 a 34 anos, sendo 39 do sexo masculino e 29 do feminino. Foram realizadas radiografias da coluna cervical nas posições de extensão, flexão e neutra, para as quais todos os responsáveis assinaram termo de consentimento. A verificação da IAA foi feita pela análise da distância atlanto-odontóide (DAO), utilizando o programa Radiocef, com uma ferramenta criada para isso. A DAO foi analisada nas três incidências, e era considerada a presença de IAA desde que o indivíduo apresentasse valores ?4,5mm em pelo menos uma dessas posições. Após a realização dos testes estatísticos e análise dos resultados, concluímos que a prevalência de IAA foi de 22,1% dos indivíduos, com valores DAO entre 4,5 e 8,83mm, tendo sido mais prevalente nos indivíduos do sexo masculino do que feminino, assim como nas crianças do que nos jovens e adultos. Foi possível verificar também que, a posição de flexão apresentou maior prevalência de IAA, mas que ela não deve sobrepor às posições de extensão e neutra, pois pode omitir casos ausentes em flexão, mas presentes nas outras posições. Dessa forma, foi realizado o trabalho de prevenção com a avaliação da IAA por meio da realização dos exames radiográficos em que os laudos... (Resumo completo, clicar acesso eletrônico abaixo)

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The means of mass communication are powerful tools to the spread of a concept as persuasion is a strong characteristic of discourses that gather around the sphere of communication, especially in advertising discourses. By the end of the 90’s, the advertisement “Down: the worst syndrome is prejudice”, did great success approaching prejudice / pre-concept in a subtle and innovative way, due its outstanding purpose and style inserting two boys in a carousel, one is a street child, the other a Down syndrome patient. The advertisement reveals a speak project of diffusion and spread of ideas that down syndrome patients are capable of dealing and supporting a routine full of activities, making a opposition to the campaigns and ideas that, in spite of raising the respect towards these kids, only contributed with the attenuation of their handicaps. Our objective is to investigate the presence of these social values in the quoted audio-visual material, and for that we’ve searched the contextualization of the advertisement in its own time period. The theory and methodological aspects got their base in Bakhtinian studies and concepts; we used the concepts of discourse gender, chronotope and mainly dialogism and enunciation. We analyzed the style utilized in the advertisement, the dialogue between the politically correct and the prejudice speeches, the verbal discourse of the music that flows with the progress of the enunciation, the non-verbal discourse of the photography (nostalgic, producing effects of sense in its relation with memory), the chronotope present in the utilization of the carousel and its significations. We concluded that the accession of the recipient, in it responsive comprehension of the enunciation at hand, is an effect produced by the well-succeded addition of these different types of discourses

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The apnea and hypopnea sleep obstructive syndrome is a disorder that affects part of adult population. Some characteristics can come with this syndrome that cause social problems such as snoring and excessive daytime sleepiness, associated many times with pulmonary hypertension and cardiac insufficiency. The dentist who is inserted into a multidisciplinary team is a professional highly regarded for diagnosis and treatment of sleep disorders. Among treatments recommended, therapy with intraoral appliance shows an excellent non invasive alternative, achieving satisfactory results.