909 resultados para SINDROME DE DOWN - DIAGNOSTICO


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O presente trabalho subordinado ao tema “Actividade Física e Síndrome de Down – A Prática de Actividade Física para as Crianças com Síndrome de Down no E.B.I. na Praia Urbana” visou recolher informações e opiniões dos professores do E.B.I. acerca da participação das Crianças com Síndrome de Down nas Actividades Físicas ou mesmo nas aulas de Educação Física. O objectivo principal deste estudo é determinar e revelar a forma mais adequada de trabalhar em harmonia o físico e a mente das Crianças Down. Para a recolha de dados foi aplicado um questionário dirigido a 120 professores em várias escolas da Praia Urbana, assim como inúmeras consultas de variadas bibliografias específicas e especializadas neste campo, nomeadamente, Actividades Físicas para pessoas com Necessidades Educativas Especiais (NEE) e observação dedeos na área de actividade físicas com crianças com Síndrome de Down. Segundo os dados analisados, a maioria dos professores questionados não está preparada para enfrentar o dilema das crianças com NEE principalmente as com Síndrome de Down (SD). Ainda conforme o mesmo estudo ficou bem explícito que a falta de preparação dos professores influencia directamente a participação dessas crianças nas aulas de Educação Física (EF). A maior parte dos professores manifestou o desejo e a vontade de ter uma formação ou um instrumento de guia que possa facilitar e ajudar no trabalho com tais crianças. É bastante vincada a consciência de integração e importância da inserção dessas crianças/alunos nas aulas de Educação Física ou em qualquer outra Actividade Física, justificando que tal atitude contribui para que a criança/aluno possa cuidar de si. Tornando-se mais independente no seu quotidiano, elas já poderão participar na vida familiar da escola obtendo assim mais rendimento nos estudos e no trabalho, podendo assumir um papel de liberdade profissional e emocional. Depois da análise destas reflexões, ficou bastante claro que é necessário uma preparação mais profunda dos professores assim como um documento que possa servir de suporte de pesquisa para todos aqueles que pretendem trabalhar com das crianças/aluno com Síndrome de Down.

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The Attorney General’s Consumer Protection Division receives hundreds of calls and consumer complaints every year. Follow these tips to avoid unexpected expense and disappointments. This record is about:"Payday Loans" -- Dollars Down the Drain?

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This article presents, discusses and tests the hypothesis that it is the number of parties what can explain the choice of electoral systems, rather than the other way round. Already existing political parties tend to choose electoral systems that, rather than generate new party systems by themselves, will crystallize, consolidate or reinforce previously existing party configurations. A general model develops the argument and presents the concept of 'behavioral-institutional equilibrium' to account for the relation between electoral systems and party systems. The most comprehensive dataset and test of these notions to date, encompassing 219 elections in 87 countries since the 19th century, are presented. The analysis gives strong support to the hypotheses that political party configurations dominated by a few parties tend to establish majority rule electoral systems, while multiparty systems already existed before the introduction of proportional representation. It also offers the new theoretical proposition that strategic party choice of electoral systems leads to a general trend toward proportional representation over time.

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Persons with Down syndrome (DS) uniquely have an increased frequency of leukemias but a decreased total frequency of solid tumors. The distribution and frequency of specific types of brain tumors have never been studied in DS. We evaluated the frequency of primary neural cell embryonal tumors and gliomas in a large international data set. The observed number of children with DS having a medulloblastoma, central nervous system primitive neuroectodermal tumor (CNS-PNET) or glial tumor was compared to the expected number. Data were collected from cancer registries or brain tumor registries in 13 countries of Europe, America, Asia and Oceania. The number of DS children with each category of tumor was treated as a Poisson variable with mean equal to 0.000884 times the total number of registrations in that category. Among 8,043 neural cell embryonal tumors (6,882 medulloblastomas and 1,161 CNS-PNETs), only one patient with medulloblastoma had DS, while 7.11 children in total and 6.08 with medulloblastoma were expected to have DS. (p 0.016 and 0.0066 respectively). Among 13,797 children with glioma, 10 had DS, whereas 12.2 were expected. Children with DS appear to be specifically protected against primary neural cell embryonal tumors of the CNS, whereas gliomas occur at the same frequency as in the general population. A similar protection against neuroblastoma, the principal extracranial neural cell embryonal tumor, has been observed in children with DS. Additional genetic material on the supernumerary chromosome 21 may protect against embryonal neural cell tumor development.

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O objetivo principal deste trabalho foi diagnosticar as condições de saneamento básico na ilha de Santo-Antão, Cabo Verde. A pesquisa analisou quais políticas públicas são aplicadas para sanar a necessidade de uma infraestrutura que possibilite uma saúde de qualidade para todos os seus habitantes e ainda mapear as grandes linhas da evolução política do setor de saneamento das últimas décadas. Como metodologia a pesquisa documental (MORESEI, 2003), foi utilizado, analisando legislações de países latino-americanos e europeus, bem como tratados internacionais e documentos das Nações Unidas para se ter uma base legal das garantias do direito ao saneamento básico e dos cuidados com o meio ambiente, bem como os Planos de Desenvolvimento de Santo Antão de anos consecutivos que mostram o desempenho dos poderes públicos, tanto da esfera municipal quanto do governo central nas políticas de saneamento. O diagnóstico contribui na formação de um acervo que auxilie autoridades e órgãos responsáveis pelo saneamento básico na ilha, possibilitando, portanto, melhorias em áreas ainda não assistidas. A preocupação com o saneamento esteve sempre relacionada à transmissão de doenças. De acordo com a conceituação clássica inscrita no Manual de Saneamento de 1927, Sousa (2004) concebe o saneamento como sendo “O conjunto de medidas que visam à modificação das condições do meio ambiente com a finalidade de promover a saúde e prevenir as doenças”.

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Aquest treball gira entorn la qüestió de l’ús que es fa de la literatura com a medi per a l’ensenyament de l’anglès com a segona llengua. En primer lloc, dibuixa el marc de la situació actual on hi ha una clara separació entre llengua i literatura com a assignatures diferenciades i fa un repàs de les diferents metodologies que al llarg de la historia han utilitzat la literatura com a eina d’aprenentatge de la llengua. Segonament, el treball explica el desenvolupament i posada en pràctica d’una unitat didàctica completa per a alumnes de segon de batxillerat, que te la literatura con a punt de sortida. El treball mira de concloure com la utilització de la literatura exerceix un poder de motivació clau en els alumnes i aporta un context que dona sentit i riquesa a l’ensenyament de la llengua. Per últim, el treball fa un recull de les opinions de professors d’anglès de Catalunya al respecte d’aquest tema, a través d’un qüestionari que 66 professors associats a l’APAC (Associació de Professors d’Anglès de Catalunya) van respondre de manera desinteressada.

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Anorectal malformation (ARM) can be divided in high, intermediate, and low forms according to the level of termination of the rectum in relation to the pubococcygeal and ischiatic lines. Patients with Down's syndrome have a high incidence of gastrointestinal anomalies, such as tracheoesophageal fistula, duodenal obstruction, annular pancreas, Hirschsprung's disease, and ARM. In these children, ARM is generally low with or without a fistula. The mode of inheritance of ARM and its genetic relation with Down's syndrome is not known, even if the association (ARM-Down's syndrome) seems not to be coincidental. We describe here a very rare case of monozygotic twins born with the association of ARM and Down's syndrome.

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Pre- and postnatal corticosteroids are often used in perinatal medicine to improve pulmonary function in preterm infants. To mimic this clinical situation, newborn rats were treated systemically with dexamethasone (Dex), 0.1-0.01 mg/kg/day on days P1-P4. We hypothesized that postnatal Dex may have an impact on alveolarization by interfering with extracellular matrix proteins and cellular differentiation. Morphological alterations were observed on 3D images obtained by high-resolution synchrotron radiation X-ray tomographic microscopy. Alveolarization was quantified stereologically by estimating the formation of new septa between days P4 and P60. The parenchymal expression of tenascin-C (TNC), smooth muscle actin (SMA), and elastin was measured by immunofluorescence and gene expression for TNC by qRT-PCR. After Dex treatment, the first phase of alveolarization was significantly delayed between days P6 and P10, whereas the second phase was accelerated. Elastin and SMA expressions were delayed by Dex treatment, whereas TNC expression was delayed and prolonged. A short course of neonatal steroids impairs the first phase of alveolarization, most likely by altering the TNC and elastin expression. Due to an overshooting catch-up during the second phase of alveolarization, the differences disappear when the animals reach adulthood.

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The Attorney General’s Consumer Protection Division receives hundreds of calls and consumer complaints every year. Follow these tips to avoid unexpected expense and disappointments. This record is about: Nailing Down Home Repair Rip-Offs & Disputes

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NF1 is a family of polypeptides that binds to discrete DNA motifs and plays varying roles in the regulation of gene expression. These polypeptides are also thought to mediate the expression of differentiation-specific markers such as adipocyte and mammary cell type-specific genes. The expression of a number of cellular differentiation-specific markers is down-regulated during neoplastic transformation. We therefore investigated whether oncogenic transformation interferes with the action of NF1. Stable transfection of activated Ha-ras into a number of murine cells correlated with a down-regulation of the expression of the NF1 genes NF1/CTF and NF1/X. The down-regulation was not at the transcriptional level but at the level of stability of the NF1 mRNAs. The level of the DNA binding activity of the NF1 proteins was also reduced in Ha-v-ras-transformed cells, and the expression of a gene that depends on this family of transcription factors was specifically repressed. These results demonstrate that an activated Ha-ras-induced pathway destabilizes the half-life of mRNAs encoding specific members in the NF1 family of transcription factors, which leads to a decrease in NF1-dependent gene expression.

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Caspase cleaved amyloid precursor protein (APPcc) and SET are increased and mislocalized in the neuronal cytoplasm in Alzheimer Disease (AD) brains. Translocated SET to the cytoplasm can induce tau hyperphosphorylation. To elucidate the putative relationships between mislocalized APPcc and SET, we studied their level and distribution in the hippocampus of 5 controls, 3 Down syndrome and 10 Alzheimer patients. In Down syndrome and Alzheimer patients, APPcc and SET levels were increased in CA1 and the frequency of both localizations in the neuronal cytoplasm was high in CA1, and low in CA4. As the increase of APPcc is already present at early stages of AD, we overexpressed APPcc in CA1 and the dentate gyrus neurons of adult mice with a lentiviral construct. APPcc overexpression in CA1 and not in the dentate gyrus induced endogenous SET translocation and tau hyperphosphorylation. These data suggest that increase in APPcc in CA1 neurons could be an early event leading to the translocation of SET and the progression of AD through tau hyperphosphorylation.

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In a paper in this week's issue of Science, Voloshin et al. (p. 868) show that a 20-amino acid peptide from RecA, a bacterial protein that repairs and recombines DNA, can mediate DNA strand exchange--one of the functions of the RecA protein. Stasiak discusses why this result is surprising and what the rest of the RecA protein is for.

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OBJECTIVES: To determine the risk of a Down syndrome (DS) live birth for women 45 years of age and over. METHODS: A meta-analysis of data from five published articles, 13 EUROCAT congenital anomaly population registers and two unpublished sources. RESULTS: Information was available on the number of DS live births occurring amongst 13,745 live births to women 45 years of age and over. Information was also available on DS pregnancies diagnosed prenatally that were subsequently terminated. These pregnancies were adjusted for expected fetal loss to estimate the number of live births that would have occurred in the absence of prenatal diagnoses, when a total of 471 DS live births were estimated to have occurred. The risk of a DS birth did not increase for women 45 years of age and over. The average risk was 34 per 1000 births (95% CI: 31-37). CONCLUSION: The risk of a DS live birth for women 45 years of age and over is considerably lower than has often been previously assumed. The most likely explanation is that women of this age are more likely to miscarry DS pregnancies than younger mothers.