Orientador: Elisa Maria Aparecida giro / Banca: Walter Luiz Siqueira / Banca: Cristiane Yumi Koga-Ito / Banca: Raquel Mantuaneli Scarel Caminaga / Banca: Cyneu Aguiar Pansani / Resumo: O objetivo deste estudo foi avaliar a quantidade de periodontopatógenos e de citocinas inflamatórias no fluido gengival, bem como as proteínas salivares em indivíduos com Síndrome de Down (SD) com Doença Periodontal (DP), comparando-os com indivíduos cromossomicamente normais, antes e 45 dias após o tratamento periodontal não-cirúrgico. Para detectar e quantificar as bactérias (Porphyromonas gingivalis, Tannerella forsythia e Treponema denticola), o fluido gengival foi coletado de 35 indivíduos com DP, sendo 23 indivíduos com SD e 12 não-sindrômicos (controle). Para quantificar as citocinas inflamatórias e as proteínas salivares foram coletados fluido gengival e saliva de 30 indivíduos com DP, sendo 20 indivíduos com SD e 10 não-sindrômicos (controle). Os efeitos do tratamento nos parâmetros clínicos foram positivos para o índice de placa, sangramento à sondagem, profundidade de sondagem e nível de inserção, em ambos os grupos. Porém, a contagem dos periodontopatógenos foi maior nos indivíduos com SD comparados com o grupo controle, antes e 45 dias após o tratamento periodontal. As citocinas Th1, Th2 e Th17 também foram encontradas em maiores quantidades nos indivíduos com SD do que nos controle, mesmo depois do tratamento periodontal. Adicionalmente, maiores quantidades de proteínas salivares com propriedades antimicrobianas, lubrificação, metabolismo, organização celular, resposta imune e transporte foram encontradas em indivíduos com SD depois do tratamento periodontal. Conclui-se que os resultados desta pesquisa podem contribuir para uma compreensão mais aprofundada do comportamento microbiológico, imunológico e do proteoma salivar de indivíduos com SD, e, consequentemente, explicar a alta prevalência e severidade da doença periodontal nesses indivíduos. / Abstract:The aim of this study was to quantify the periodontopathogens, inflammatory cytokines and salivary proteins in subjects with Down syndrome (DS) and normal subjects, both with periodontal disease (PD), before and 45 days after non-surgical periodontal therapy. To detect and quantify bacteria (Porphyromonas gingivalis, Tannerella forsythia, and Treponema denticola), crevicular gingival fluid (CGF) was collected from 35 individuals with PD, 23 with DS and 12 non-syndromic (control). To quantify the inflammatory cytokines and salivary proteins, CGF and saliva of 30 individuals with PD, 20 with SD and 10 non-syndromic (control) were collected. The effects of the non-surgical periodontal therapy on clinical parameters were positive in both groups. However, the count of periodontopathogens was higher in individuals with DS compared with the control group, before and after periodontal therapy.Th1, Th2 and Th17 cytokines were also found in higher amounts in individuals with DS even after periodontal therapy compared with control patients. Furthermore, higher amounts of salivary proteins with antimicrobial properties, lubrication, metabolism, cellular organization, immune response and transport were quantified in individuals with DS after periodontal therapy. Despite of clinical parameters improvement after non-surgical periodontal therapy in subjects with DS, it is concluded that the results of this study may contribute to a more profound understanding of microbiological and immunological behavior, as well as knowledge of the salivary proteome in individuals with Down syndrome, and also might explain the high prevalence and severity of periodontal disease in these individuals. / Doutor

No description available.

Orientador: Sylvia Monica Allende Serra / Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Artes / Made available in DSpace on 2018-07-21T20:20:55Z (GMT). No. of bitstreams: 1 Pereira_AngelinaGarcia_M.pdf: 2755868 bytes, checksum: 74c519d85845f6d429195220702ce23e (MD5) Previous issue date: 1996 / Resumo: A idéia inicial deste estudo, teve origem na comparação entre dados literários sobre a dificuldade de imaginação em Síndrome de Down e as observações da pesquisadora sobre o desempenho de crianças portadoras desta síndrome, em situação de jogo dramático. A Síndrome de Down é causada por um acidente genético no cromossomo 21, que compromete o sistema nervoso central, trazendo como consequência, retardo mental, hipotonia generalizada e flacidez ligamentar, influenciando o desempenho psico-social e cognitivo dos seus portadores. Ao lado disto, as características faciais destes indivíduos torna-os especiais, dentre os considerados normais. Dados literários apontam que há um retardo de todas as aquisições em Síndrome de Down e que, embora mais tarde, estas crianças percorrem as mesmas etapas esperadas para crianças consideradas normais. O jogo dramático é uma atividade que ocorre com crianças entre os 3 e 11 anos quando, em interações entre si e com os materiais, elas criam situações imaginárias. Do início da idade pré-escolar até o final da idade escolar, o jogo dramático infantil vai se transformando, de acordo com as necessidades e tendências das crianças, assim como pelos incentivos a que são expostas. Entre as várias funções que a literatura delega a esta atividade, destacamos o estímulo à imaginação e a possibilidade de interagir com a realidade sócio-cultural em que estão inseridas, através da representação de papéis, podendo assim, compreender melhor esta realidade, refletir sobre ela e transformá-Ia de acordo com as suas necessidades. São poucos os estudos sobre a atividade lúdica em Síndrome de Down, e estes dizem respeito à capacidade das crianças em criar mais ou menos "substitutos simbólicos" para os objetos e gerar mais ou menos "idéias", quando brincam de fazer-de-conta. Entre os fatores que comprometem a imaginação está a dificuldade de síntese que estes indivíduos apresentam. Para realizar este estudo, partimos do pressuposto que uma intervenção com propostas efetivas do adulto, no processo de construção do jogo de crianças com Síndrome de Down, pudesse garantir a elas um maior domínio desta atividade e as possibilidades interativas e de síntese que o jogo permite. A partir da análise dos dados colhidos em 13 sessões de jogos, realizados por um grupo formado por oito crianças portadoras de Síndrome de Down, pudemos concluir que as crianças estudadas foram capazes de incorporar a estrutura dramática do jogo, utilizando-a para realizar os seus próprios jogos improvisados, independentes do adulto / Abstract: Not informed. / Mestrado / Mestre em Artes

Made available in DSpace on 2014-06-12T22:59:39Z (GMT). No. of bitstreams: 2 arquivo827_1.pdf: 1918109 bytes, checksum: 626e57649714905244b8b2d959c756b3 (MD5) license.txt: 1748 bytes, checksum: 8a4605be74aa9ea9d79846c1fba20a33 (MD5) Previous issue date: 2010 / Conselho Nacional de Desenvolvimento Científico e Tecnológico / Esta pesquisa visou compreender os sujeitos com Síndrome de Down a partir de suas interações com pessoas participantes de seus ambientes escolar e familiar, considerados fundamentais em seu processo de desenvolvimento. Tal compreensão teve respaldo na teoria sócio-histórica de Vygotsky e na perspectiva da aprendizagem situada, que são abordadas neste trabalho a partir de alguns de seus principais conceitos e também de estudos empíricos nelas baseados, que serviram de apoio para a elaboração de nosso problema e também para as análises de nossos achados. Tendo como objetivo geral compreender como se constróem diálogos envolvendo crianças com Síndrome de Down em situação de interação com suas mães e professoras, entendendo essas interações como situações de co-construção dos contextos familiar e escolar. Como objetivo específico, buscamos entender de que maneira a criança com Síndrome de Down faz aproximações discursivas com o outro e também perceber como as díades (mãe/criança e professora/criança) co-regulam seus comportamentos durante as situações de interação, identificando os padrões de co-regulação predominantemente presentes na dinâmica interacional de cada díade. Para tanto propusemos aos sujeitos de pesquisa uma atividade em que o adulto deveria narrar o que via em uma gravura para a criança, que deveria reproduzir o desenho em questão, dialogando com a parceira adulta de forma a facilitar a execução da tarefa. Participaram do estudo crianças de uma escola particular regular de Recife, suas mães e professoras de sala de aula. Os dados da pesquisa foram construídos com inspiração no aparato metodológico da Análise Interacional, abordagem pragmática que se destina ao estudo das interações humanas no que concerne àquilo que é corpóreo e observável, compreendendo a cognição como social e ecologicamente distribuída, e destacando o papel da linguagem e de outros recursos semióticos para a efetivação da ação humana. Como apoio fundamental para a realização da Análise Interacional, nos utilizamos da tecnologia de vídeo para a produção e a análise de dados. Os achados apontaram para diferenças no engajamento das díades na realização da tarefa, dependendo do tipo de relação entre os parceiros

This study examined the effectiveness of two types of assistive technology for writing instruction of students with Down syndrome in British Columbia. Students received either Clicker 5, a symbol-supported writing software program; or Co:Writer, a word prediction software program designed to support written output. Data collection was conducted between January-June 2007 (Year 1) and October-May 2008 (Year 2). Clicker 5 was provided to 43 students in Year 1 (17 of whom also participated in the study during Year 2) and was designed to support early and emergent literacy development. Co:Writer was provided to 18 students in Year 1 (2 of whom also participated in the study during Year 2) and was designed to support text writing. Each month during both school years, teachers were asked to complete an on-line survey with questions related to their impressions of the impact of the technology and other variables. Students in the Clicker group produced 10-minute monthly writing samples about a selected topic using a Clicker grid designed by the research team. Students in the Co:Writer group produced one handwritten and one Co:Writer-supported 10-minute writing sample every month about the specified topic. Data were analyzed with regard to writing rate, spelling accuracy (Co:Writer group only), and quality (measured both analytically and holistically). Results for dependent measures of writing for the Clicker group were variable but provided some support for the use of symbol-supported writing software for producing meaningful written output. The Co:Writer group was more accurate with regard to spelling and grammar while using Co:Writer compared to handwriting. The results are discussed in terms of the practical implications, limitations, and areas for future research. / Education, Faculty of / Educational and Counselling Psychology, and Special Education (ECPS), Department of / Graduate

Menschen mit Trisomie 21 weisen häufig eine Gedeihstörung und eine erhöhte Infektanfälligkeit auf, weswegen im klinischen Alltag nicht selten ein Schweißtest zum Ausschluss einer Mukoviszidose (CF) durchgeführt werden muss. In der Literatur gibt es Hinweise, dass bei Patienten mit Trisomie 21 eine erhöhte Schweißosmolalität vorliegt, was zu falsch positiven Schweißtestuntersuchungen führen könnte. Bisher gab es keine Studie darüber, ob die Chlorid(Cl)-Messung im Schweiß bei Patienten mit Trisomie 21 zum Ausschluss einer CF herangezogen werden kann. Diese Studie stellt nun die Schweißsekretionsrate, sowie die Chlorid-Konzentration in Schweißproben von Probanden mit Trisomie 21 der von Kontrollpersonen gegenüber. / Recurrent airway infections are common in patients with Down’s syndrome (DS). Hence, ruling out Cystic Fibrosis (CF) in these patients is often required. In the past, the value of sweat testing–the gold standard to diagnose CF–has been questioned in DS as false positive results have been reported. However, these reports are based on measurements of sweat osmolality or sodium concentrations, not chloride concentrations. This study analyses sweat secretion rate and chloride concentration in sweat samples of patients with DS in comparison to healthy controls

Submitted in fulfilment of the requirement for the degree MASTER OF EDUCATION in the Department of Educational Psychology of the Faculty of Education at the University of Zululand, 1996. / The aim of this investigation was to examine the life-world of Indian parents' with a Down's syndrome child. Down's syndrome is the most commonly occurring form of mental retardation that is known to be caused by a genetic defect It is also known as Mongolism because of the Eastern (Mongoloid) slant of the eyes or as Trisomy - 21 because it is caused by the presence of an extra (third) chromosome on the twenty-first pair of chromosomes. Although a Down's syndrome child can result from any pregnancy the incidence thereof increases with the age of the mother - the older the mother the higher the risk. One out of every 640 babies born has Down's syndrome. The Down's syndrome child's experience of his impairment was described in terms of his relationship with himself, others, objects and ideas, and God. Meaningful and active acceptance of his impairment by the child seems to be possible if parents unconditionally accept the child and share his experiences by rendering sustained and responsible assistance and support. Parents of Down's syndrome children experience their parenthood in a different way from the parents of normal children for the simple reason that they are parents of children with special needs. Their initial reaction after discovering the child has Down's syndrome is shock and disbelief followed by anger, disappointment, denial and often guilt feelings. In general, parents with disabled children are unable to accept and/or assimilate in a responsible way their unusual experience of parenthood without professional support. Parents need adequate support right from the very birth of a disabled child. For the purpose of the empirical investigation a self-structured questionnaire was utilized. An analysis was done of the questionnaires completed by the parents of Down's syndrome children in the Durban area. The data thus obtained was processed and interpreted by means of descriptive statistics. In conclusion, a summary and findings emanating from the literature study, and the descriptive statistics were presented. Based on these findings, the following recommendations were made: Genetic services of the Department of Health must be made better known and more available to the general public. From the initial diagnosis of a Down's syndrome child support should be rendered to the parents to meet the special needs brought about by a disabled child. Existing information concerning the care and education of Down's syndrome children must be utilised in the compiling of counselling programs for parents.

M.Med. (Medical Genetics)--University of the Witwatersrand, Faculty of Health Sciences, School of Pathology, 2012 / Down syndrome (DS) (OMIM #190685), the most common viable chromosome abnormality, is associated with an increased risk of medical complications. The most frequent endocrine abnormalities observed in children with DS involve the thyroid gland, and the risk of thyroid dysfunction increases with age. Global studies have documented a wide spectrum of thyroid dysfunction in children with DS. Due to the paucity of data from sub-Saharan Africa regarding thyroid function in African children with DS, this study was conceived. The main aim of the study was to document the range of thyroid function in a cohort of 391 South African children with DS, seen at the Genetic Clinics from 2003 to 2008. Referral and treatment practices at two tertiary hospitals in Johannesburg were also documented. The majority (84%) of children had at least one thyroid function test (TFT) performed, and the most common form of thyroid dysfunction encountered was subclinical hypothyroidism (25.3%). Notably, up to one third of patients with abnormal TFT results were not referred to the Endocrine Clinics for evaluation, and were thus not receiving the necessary treatment. There were 13 neonates with congenital hypothyroidism; at least two of them were not referred, and thus not treated during the sensitive neonatal period. A significant difference was noted between the results from Chris Hani Baragwanath Hospital and those from the other two hospitals. The difficulties in interpretation of results obtained from different biochemical machines and different populations, as compared to those used to derive the reference ranges, were raised. Problems with regular follow-up of patients and annual thyroid surveillance were also highlighted. The clinical features of hypothyroidism may be difficult to distinguish from the phenotypic features of DS. Thus, regular biochemical screening, even in the absence of physical signs and symptoms, is warranted in this group of children to ensure that hypothyroidism is treated, and further, irreversible neurological and physical impairment prevented.

The purpose of our research study was to examine if there was a relationship between PA and functioning in adults with DS. Our research study had 17 adults with Down syndrome participate. The functional performance of participants were measured with the Timed Up-and-Go test (TUG) and the 6-minute walk test (6MWT). After the testing session was completed, the physical activity of participants over seven days was measured. The main findings were that adults with DS had low levels of physical functioning and PA, and that physical functioning was associated with PA levels. Improving the functional profiles of adults with DS may aid these individuals in accumulating the amount of PA required for improving their health.

No description available.