251 resultados para Síndromes da apnéia do sono


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The genome of multicellular organisms shows a ruge index of RNA transcripts that are not protein coding. These ncRNAs act in housekeeping and genic regulation, as well in signaling and cell differentiation, crucial events to embryonic and ontogenetic development. Moreover, another events require the orderly expression these transcripts, as in cromossomic inactivation and genomic imprinting process, and their fail may cause several syndromes, malformations, illness and even death of affected individual. This review focus is to present the main acting pathways of ncRNAs already studied, as well to introduce the actual landscape of Dapper gene cluster and its performance in vertebrate development.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Pós-graduação em Serviço Social - FCHS

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Pós-graduação em Serviço Social - FCHS

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A polimicrogiria (PMG) é uma malformação do córtex cerebral causada por falhas no seu desenvolvimento, caracterizando-se por um número excessivo de pequenos giros e laminação anormal, dando à superfície cortical uma aparência irregular e grosseira. A gravidade de suas manifestações clínicas se relaciona diretamente com a extensão da malformação e das regiões cerebrais afetadas, sendo que a presença de lesões bilaterais ou unilaterais extensas indica um pior prognóstico. Uma das síndromes de polimicrogiria mais freqüentes e, conseqüentemente, mais bem descritas clinicamente, é a polimicrogiria perisylviana bilateral (PPB). Essa forma de PMG atinge a região que tange a fenda Sylviana, podendo apresentar-se tanto unilateralmente quanto em ambos os hemisférios. Vários genes têm sido relacionados a diferentes formas de polimicrogiria, são eles AFF2,TUBA1A, TUBB2B e TUBA8, SRPX2 e WDR62. Estes genes já foram estudados pelo nosso grupo de pesquisa em um grupo de pacientes compostos de casos familiares e esporádicos, acometidos em sua maioria pela forma perisylviana de PMG. Nenhuma variante deletéria foi identificada nestes genes. Recentemente um novo gene foi implicado na etiologia molecular das PMG, o TUBB3. O gene em questão pertence à mesma família de TUBA1A, TUBB2B e TUBA8 e codifica uma proteína de ligação aos microtúbulos, tendo importante papel na formação do fuso. Além deste gene, também tem sido descritas alterações genômicas, denominadas de Copy Number Variations (CNV), estas variações estruturais tem sido associadas com diversos distúrbios neurológicos, que vão desde transtornos psiquiátricos até malformações do córtex cerebral como a PMG. Desta forma, o objetivo deste trabalho foi analisar a existência de alterações de ponto deletérias no gene TUBB3 em pacientes com PMG e também, o envolvimento de CNVsna etiologia deste tipo de malformação ...

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Pós-graduação em Fonoaudiologia - FFC

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The critic João Alexandre Barbosa, points in the work Agrestes (1981-1985), of the Brazilian poet João Cabral de Melo Neto, the presence of individualized death. Thus way, this study proposes to analyse the meanings of lyrism and first-person enunciations, in the work Agrestes, a trace gradually eliminated from Cabral’s discursive field since his first work, Pedra do Sono (1940-1). These elements will clash with João Cabral’s poetics, previously based on the selection of voices and artistic practices consistent with his compositional method, with rigorous sorting values and elimination of any subjectivism. To understand this inconsistency, we propose studying the last part of the work Agrestes, entitled “A indesejada das gentes”, a place where the theme of death is recurrent, as well as the presence of enunciators to set out, even to reveal its feelings about aging and death. The analytical procedure should research the hypothesis of rupture of the inflexible tone of João Cabral’s speech that would follow in respect to the poetic project, a reverse path, starting from objective poetry in the direction of subjective poetry.

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Although sucking activity has been considered an essential behavior of early childhood to satisfy nutritive and non-nutritive needs, digit and pacifier sucking are deleterious oral habits that may interfere with child development. Furthermore, this clinical picture may be compounded by other concerning habits, such as self-mutilating behavior. This article reports 4-year follow-up of a child in whom non-nutritive sucking was associated with an unusual self-mutilating behavior; namely, the child would pull out her own hair after wrapping it around her finger every time she sucked on the pacifier. This occurred specially at bedtime, while she was watching TV, or when she was somewhat anxious, and remitted and recurred throughout the follow-up period. In an attempt to address this behavior, pacifier use was discontinued and the child’s head was shaved. Ultimately, the case was only solved through combined efforts involving the child, her family, and health professionals. Based on the parents’ reports and clinical examination and follow-up findings, we emphasize the importance of investigating the origin of the problem and considering emotional aspects and its association with other habits in such cases.

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Objective: evaluate the immediate dental and skeletal changes induced by the Herbst appliance on early treatment of Angle´s Class II malocclusion. Material and Method: several electronic databases such as Scopus, Pub Med, Medline, Cochrane Library, Lilacs and Scielo were searched. The abstracts that fullfilled the selection criteria were selected and those that did not provide enough information about these criteria were selected but the final decision of including them or not on the research, was taken after the complete reading of the article. The selection criteria were: clinical studies with Class II individuals, both male and female, with initial age of 7 to 10 years, treated with the Herbst appliance that analysed the dental and/or skeletal changes evaluated on lateral cephalometric radiographs; researches where the treatment performed did not involve extractions or surgical interventions; studies that included patients without syndromes or health concerns and articles published in English or Portuguese. Results and Conclusions: five articles were selected. The articles showed that significant changes happened in the mandibular sagittal lenght, on facial convexity angle, on maxillo-mandibular relationship, on retroclination of the upper incisors and on distal movement of the upper molars, on proclination of the lower incisors and on extrusion of the lower molars. The appliance exerted a limited effect on the anterior relocation of the maxillary complex and on facial heights. However, more studies about the performance of the Herbst appliance on early treatment of Class II are needed.

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