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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
551

Efeito do estereótipo sobre respostas comportamentais e eletrofisiológicas em tarefa de decisão social

Rêgo, Gabriel Gaudencio do 11 August 2014 (has links)
Made available in DSpace on 2016-03-15T19:40:17Z (GMT). No. of bitstreams: 1 Gabriel Gaudencio do Rego.pdf: 1139897 bytes, checksum: b56f45681ad1b3adb1fbebc620c7562a (MD5) Previous issue date: 2014-08-11 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / Games are useful tools to simulate social interactions of cooperation or competition and can be applied in conjunction with behavioral and electrophysiological techniques, such as Event Related Potentials (ERP) analysis. The Ultimatum Game (UG) is a well-studied game which can be used to investigate how individuals react to injustice. An initial value is divided between a proponent, who suggests a division rate of this value, and a respondent, who may accept or reject it. If the respondent accepts, both players gain the proposed value, and if he or she rejects, they gain nothing. The behavioral and electrophysiological results have demonstrated typical reactions in the game. The Medial Frontal Negativity (MFN), a component associated with the automatic processing of negative social feedback, and the P300, associated with attention and memory process, are two components commonly observed during UG. While the interaction between volunteers and proponents with typical development is well described, the interaction between volunteers and proponents with Down syndrome is still unknown. This research aimed to investigate differences in the behavioral data, MFN and P300 in participants playing the UG with a typical proposer and Down proposer. 32 subjects participated in the experiment. Scales of social desirability, moral identity, self-esteem and an implicit association test about Down syndrome were applied. The results showed similar behavioral patterns among proponents and previous data described in the literature. Regarding ERPs, the MFN was not detected and there was greater amplitude of P200 component for proposals of the Down. There was also greater amplitude of P300 for fair proposals of the typical proponent compared to the fair proposals of the Down, and of these two compared to unfair proposals of both. The amplitude of the P300 for proposals of typical was negatively correlated with self-esteem scores. Together, the results suggest that the presence of a player with Down syndrome might influence the perception and expectation of the participants about the game, and this effect could be extended to the interaction with the typical proponent. The absence of MFN suggests that participants do not perceived the unfair proposals as a social negative outcome and P300 suggests that the interaction with the typical proposer was more relevant to the participants. Moreover, this relevance was modulated due to personal characteristics of self-esteem. Further studies are suggested in this area to confirm the hypotheses suggested in the present research. / Os jogos simulam situações sociais relativamente simples de cooperação ou competição e podem ser aplicados conjuntamente às técnicas de pesquisa comportamentais e eletrofisiológicas como a análise de potenciais relacionados a eventos (ERP). Um jogo muito estudado é o Ultimatum Game (UG), que pode ser utilizado para investigar como indivíduos reagem à injustiça. Um valor inicial é dividido entre um propositor, que sugere uma divisão do valor, e um respondente que pode aceitar ou rejeitar. Caso este aceite os dois ganham o valor proposto, caso rejeite ninguém ganha. Os resultados comportamentais e eletrofisiológicos têm demonstrado reações comuns no jogo. Os ERPs mais comuns é o MFN, associado ao processamento automático de feedbacks sociais negativos, e o P300, associado a processos atencionais e de memorização. Enquanto a interação entre sujeitos de pesquisa com propositores de desenvolvimento típico já é bem conhecida, o efeito desta interação com propositores com síndrome de Down ainda é desconhecido. O presente buscou investigar diferenças no padrão comportamental, de MFN e P300 em participantes jogando UG com propositor típico e com Down. 32 sujeitos participaram do experimento. Foram aplicadas escalas de desejabilidade social, identidade moral, de autoestima e um teste de atitudes implícitas frente às pessoas com Down. Os resultados demonstraram padrões comportamentais semelhantes entres os propositores e a literatura. Quanto aos ERPs, o MFN não foi detectado e houve presença de componente P200 para propostas de Down. Houve também maior amplitude de P300 para propostas justas do típico em comparação as justas do Down e destes dois em comparação às propostas injustas de ambos. A amplitude do P300 para propostas do típico apresentaram correlação negativa com escalas de autoestima. Os resultados sugerem que a presença de um jogador com síndrome de Down influenciou a percepção e expectativa dos participantes quanto ao jogo, e que este efeito pode ter se estendido para a interação com o propositor típico. A ausência de MFN sugere que não houve processamento das propostas injustas como respostas sociais negativas e o P300 sugere que a interação com o propositor foi de maior relevância para os participantes. Além disto, esta relevância foi modulada em razão de características pessoais de autoestima. São sugeridos novos estudos no tema para confirmar as hipóteses aqui apresentadas.
552

Prevalência da disfunção do trato urinário inferior em indivíduos com síndrome de Down / Prevalence of lower urinary tract dysfunction in individuals with Down syndrome

Mrad, Flávia Cristina de Carvalho 23 November 2012 (has links)
Submitted by isabela.moljf@hotmail.com (isabela.moljf@hotmail.com) on 2017-07-04T10:50:56Z No. of bitstreams: 1 flaviacristinadecarvalhomrad.pdf: 25667828 bytes, checksum: 67558dd38cd5b84d1921ca5e06445e03 (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2017-08-08T14:22:44Z (GMT) No. of bitstreams: 1 flaviacristinadecarvalhomrad.pdf: 25667828 bytes, checksum: 67558dd38cd5b84d1921ca5e06445e03 (MD5) / Made available in DSpace on 2017-08-08T14:22:44Z (GMT). No. of bitstreams: 1 flaviacristinadecarvalhomrad.pdf: 25667828 bytes, checksum: 67558dd38cd5b84d1921ca5e06445e03 (MD5) Previous issue date: 2012-11-23 / A disfuncão do trato urinario inferior (DTUI) é uma alteracão comum em crianças. Dados sobre sua prevalência em indivíduos com síndrome de Down (SD) são escassos. O presente estudo transversal tem como objetivo investigar a prevalência da DTUI em indivíduos com SD pertencentes ao Ambulatório da Síndrome de Down, único com critérios específicos de atendimento em Minas Gerais, Brasil. Os sintomas da DTUI foram avaliados através da aplicação da versão adaptada e validada para população brasileira do Dysfunctional Voíding Symptom Score (DVSS). No DVSS, os valores de corte para indicar a presença de DTUI foram maior do que seis para indivíduos do sexo masculino e maior do que nove para indivíduos do sexo feminino. Dos 114 indivíduos avaliados, 84 foram incluíduos, com idade variando de quatro a 57 anos (média 19,10 anos ± 12,02), sendo 66,70% do gênero feminino. A prevalência encontrada foi de 27,38%. Os sintomas foram mais frequentes nos indivíduos do gênero masculino (OR 3,06; IC 95% (1,131 a 8,321); p=0,03) e com a idade menor ou igual á 10 anos (OR 5,22; IC 95% (1,867 a 14,61); p= 0,001). Estes achados tornam-se importantes para alertar os profissionais envolvidos no seguimento destes indivíduos, orientando sobre a necessidade de investigação padronizada da DTUI, objetivando a prevenção e/ou a correta intervenção terapêutica. / Lower urinary tract dysfunction (LUTD) is a common problem in children. Data on it's prevalence in individuals with Down syndrome (DS) is scarce. This cross-sectional study aims to investigate the prevalence of LUTD in individuals with DS, members of the Down Syndrome Clinic, the only one with specific treatment criteria in Minas Gerais, Brazil. The LUTD symptoms were assessed through the application of the validated and adapted version of the Dysfunctional Voiding Symptom Score (DVSS) for the Brazilian population. The cut-point to indicate the LUTD presence were > 6 for male individuals and > 9 for female individuals. Of the 114 individuals assessed, 84 were eligible, with ages varying from 0 to 57 years (medium age 19.10 years ± 12.02), of these 66.70% being female. The prevalence found was of 27.38%. The symptoms were more frequent in males (OR 3.06; IC 95% (1.131 to 8.321); p=0.03) and of age lower or equal to 10 years (OR 5.22; IC 95% (1.867 to 14.61); p= 0.001). These findings are important to alert the professionals involved in the follow-up of such patients, informing them of the need to standardize the investigation of the LUTD, aiming to prevent and/or the correct therapeutic intervention.
553

Rocka sockorna 365 dagar om året : En kvalitativ litteraturanalys om hur barn med funktionsnedsättning framställs i fyra olika bilderböcker riktade till barn i förskoleåldern / Lots of socks 365 days a year : A qualitative literature analysis on how children with disabilities are portrayed in four different picture-books aimed at children in pree-school age

Husberg, Susanne January 2018 (has links)
Syftet med denna kvalitativa litteraturanalys var att undersöka hur neuropsykiatrisk och intellektuell funktionsnedsättning skildras i fyra olika bilderböcker som är riktade till barn i förskoleåldern. Resultatet av analysen visar att tre av bilderböckerna skildrar både negativa och positiva aspekter av funktionsnedsättningen, med ett visst fokus på de positiva. I dessa tre bilderböcker kretsar även handlingen kring funktionsnedsättningen, som är det primära i berättelsen. I en av de fyra bilderböckerna skildras funktionsnedsättningen enbart på ett positivt sätt. I denna bilderbok kretsar dock handlingen kring något helt annat än själva funktionsnedsättningen, som inte är det primära i berättelsen. Analysen visar även att funktionsnedsättningen är mest tydlig i bilderböckernas text, och att bilderböckerna skiljer sig åt gällande estetisk utformning. / The purpose of this qualitative literature analysis was to examine how neuropsychiatric and intellectual disability is portrayed in four different picture-books aimed at children in pre-school age. The results of the analysis show that three of the picture-books portrays both positive and negative aspects of the disability, with a certain focus on the positive ones. In these three picture-books, the disability is also the primary in the story. One of the four picture-books only show the positive sides of the disability. However, in this picture-book the disability is not the primary in the story. The analysis also show that the disability is mostly noticeable in the text of the picture-books, and that the picture-books are different regarding their aesthetic design.
554

Increasing activities and interests in a child dually diagnosed with PDD-NOS and DS.

Zeug, Nicole M. 08 1900 (has links)
Expanding interests may be a behavioral cusp, resulting in widespread changes across skills, and therefore is particularly relevant in intervention programs for children with autism. Little research has addressed directly increasing the diversity of activities and interests for this population. This study describes a program developed to increase activities and interests in a girl dually-diagnosed with pervasive developmental disorder (PDD-NOS) and Downs syndrome (DS). A multiple-baseline design across stimuli was employed to evaluate the program. The results show that the program increased number of total and different toy interactions. No effects were observed for overall duration of toy interactions. Results are discussed in relation to play skill instruction and preference assessment literature, the cusp, and autism intervention programs.
555

Definição do ponto de corte do índice de massa corporal para o diagnóstico de obesidade e identificação dos fatores de risco cardiovascular em adolescentes com síndrome de Down / Definition of the body mass index cutoff for obesity diagnosis and identification of the cardiovascular risk factors in adolescents with Down syndrome

Samur-San Martin, Juan Eduardo, 1967- 27 August 2018 (has links)
Orientadores: Gil Guerra Júnior, Roberto Teixeira Mendes / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-27T03:51:40Z (GMT). No. of bitstreams: 1 Samur-SanMartin_JuanEduardo_D.pdf: 1683906 bytes, checksum: 919ec09c31bfe0bfe0e71a27f12c92e7 (MD5) Previous issue date: 2015 / Resumo: Estrutura da Tese: Estudo estruturado pelo "modelo Escandinavo", denominado de "modelo alternativo" no Programa de Pós-Graduação em Saúde da Criança e do Adolescente da Faculdade de Ciências Médicas da Universidade Estadual de Campinas (FCM ¿ Unicamp). Esta tese está composta por introdução geral, objetivos, capítulos (1 e 2) e conclusão geral. A introdução geral aborda: aspectos sobre a síndrome de Down (SD); da obesidade com temas direcionados à fisiopatologia, tipos, incidência e diagnóstico em crianças e adolescentes; da obesidade na SD; da associação da obesidade com a doença cardiovascular (DCV), como também a avaliação dos fatores de risco cardiovascular em indivíduos com e sem SD. Os capítulos 1 e 2 estão em formato de artigo. Na conclusão geral foram apresentadas as principais conclusões dos dois artigos. As referências bibliográficas foram apresentadas no final de cada capítulo e da tese. Objetivos: Os objetivos do presente estudo são: (1) estimar o ponto de corte do Índice de Massa Corporal (IMC) para o diagnóstico de obesidade em adolescentes com SD de acordo com diferentes referências para classificação do IMC em relação ao percentual de gordura corporal (%GC) avaliado pela absorciometria com raios-X de dupla energia (DXA) e (2) avaliar os fatores de risco cardiovascular em adolescentes com SD e compará-los em relação ao diagnóstico de obesidade estabelecido pelo escore z do IMC da World Health Organization (WHO). Casuística e Métodos: Participaram no primeiro artigo (capítulo 1) 34 adolescentes com SD e no segundo artigo (capítulo 2) 32, de ambos os sexos (idade: 10 e 17 anos). No capítulo 1, duas técnicas foram utilizadas para avaliar a composição corporal: IMC e DXA. O IMC foi avaliado de acordo com as referências da International Obesity Task Force (IOTF), da WHO para população geral, e de Myrelid et al. e Styles et al. para população com SD. O %GC foi avaliado pela DXA de corpo inteiro e classificado de acordo NHANES 2011. No capítulo 2, o IMC considerado como alterado foi ?2,00. Foram avaliados circunferência da cintura, pressão arterial, perfil lipídico, HOMA-IR e proteína C reativa (PCR). O colesterol total, o HDL, o LDL, os triglicérides, o HOMA-IR e a PCR foram considerados fatores de risco cardiovascular e analisados em relação ao escore z do IMC. Resultados: No capítulo 1, apenas os meninos apresentaram a altura significativamente maior que as meninas e estas %GC maior que os meninos. Todas as referências que usaram IMC para avaliar obesidade apresentaram associação positiva com o %GC avaliado pela DXA no diagnóstico de obesidade. Utilizando a curva ROC em relação ao %GC pela DXA, todas as referências apresentaram alta sensibilidade, porém, o escore z do IMC pela WHO apresentou melhor especificidade, com o valor da acurácia de 82% para o ponto de corte >2,14. No capítulo 2, seis adolescentes não apresentaram nenhum dos seis fatores de risco cardiovascular, 15 apresentaram um ou dois fatores de risco e 11 apresentaram três ou mais. O escore z do IMC com melhor sensibilidade (81,8%), especificidade (71,4%) e acurácia (72%) para identificar os grupos com menos de três ou três ou mais fatores de risco cardiovascular foi o 2,14. Conclusão: De todas as referências utilizadas para o diagnóstico de obesidade o ponto de corte do escore z >2,14 de IMC da WHO mostrou melhor especificidade. O ponto de corte do escore z >2,14 de IMC da WHO confirmou ser o melhor ponto de corte para diagnóstico de obesidade relacionada a risco de DCV entre adolescentes com SD / Abstract: Structure of the Thesis: This study is structured by "Scandinavian Model," called "Alternative Model" in the Postgraduate Program in Child and Adolescent Health of the School of Medical Sciences, at State University of Campinas (FCM - Unicamp). This thesis is composed of general introduction, objectives, chapters (1 and 2) and general conclusion. The general introduction approach aspects of the history of Down syndrome (DS), prevalence, genetics, clinical features and demonstrations in DS; as well as dealing with obesity issues directed to the pathophysiology, types, prevalence and diagnosis in children and adolescents, diagnostic methods and obesity in DS; the association of obesity with cardiovascular disease (CVD), as well as the assessment of cardiovascular risk factors in children, adolescents and adults with and without DS. Chapters 1 and 2 are in article format. In general conclusion were presented the main conclusions of the two articles. References were presented at the end of each chapter and of the thesis. Objectives: The aims of this study are: (1) to estimate the cutoff point of the body mass index (BMI) for the diagnosis of obesity in adolescents with DS according to different references for BMI in relation to the percentage of body fat (%BF) measured by absorptiometry dual-energy X-ray absorptiometry (DXA) and (2) to assess the cardiovascular risk factors in adolescents with DS and compare them in relation to obesity diagnosis determined by z-score for BMI of the World Health Organization (WHO). Materials and Methods: In this study, participated in the first article (Chapter 1) 34 adolescents with DS and the second article (Chapter 2) 32 adolescents with DS, of both sexes (age: 10 to 17 years). In Chapter 1, two techniques were used to assess body composition: BMI and DXA. BMI was evaluated according to the references of the International Obesity Task Force (IOTF), the WHO for the general population, and Myrelid et al. and Styles et al. for people with DS. The %BF was assessed by whole body DXA and classified according to NHANES. In chapter 2, weight and height were measured and BMI calculated. BMI considered abnormal was >2.14. We evaluated waist circumference, blood pressure, lipid profile, HOMA-IR and C-reactive protein (CRP). Total cholesterol, HDL, LDL, triglycerides, HOMA-IR and CRP were considered cardiovascular risk factors and analyzed in relation to BMI z score. Results: In Chapter 1, all references who have used BMI to assess obesity was positively associated with %BF measured by DXA in the diagnosis of obesity. Using the ROC curve in relation to %BF by DXA, all references showed high sensitivity, but the z-score of BMI by WHO showed better specificity, with the value of the accuracy of 82% for the cutoff point above 2.14. In Chapter 2, six teenagers do not show any of the six cardiovascular risk factors, 15 had one or two risk factors and 11 had three or more. The z scores of BMI with better sensitivity (81.8%), specificity (71.4%) and accuracy (72%) to identify the groups with less than three or three or more cardiovascular risk factors was 2.14. Conclusion: All the references used for the diagnosis of obesity of the cutoff point of z-scores above 2.14 by WHO showed better specificity. WHO BMI z scores greater than 2.14 confirmed to be the best cutoff point for obesity diagnosis related to risk of the cardiovascular disease among adolescents with DS / Doutorado / Saude da Criança e do Adolescente / Doutor em Ciências
556

Stress e qualidade de vida dos cuidadores de crianças portadoras de Síndrome de Down

Cavalcanti, Gabriela de Almeida 12 April 2013 (has links)
Made available in DSpace on 2017-06-01T18:29:20Z (GMT). No. of bitstreams: 1 gabriela_almeida_cavalcanti.pdf: 26410845 bytes, checksum: a4951da5acb2cba47c1bbbee75af1fd0 (MD5) Previous issue date: 2013-04-12 / Esta dissertação trata de uma pesquisa que teve como objetivo investigar o nível de stress e a qualidade de vida dos cuidadores de crianças com a Síndrome de Down (SD) e a dinâmica destas famílias. É composta por três artigos: o primeiro pretendeu realizar uma revisão da literatura nas seguintes bases de dados: Pubmed, MedLine, PsycInfo, e Lilacs, a partir de palavras-chave, como: Síndrome de Down e impacto familiar. Foram selecionados 48 artigos, publicados nos últimos 10 anos. Foi constatado que nos estudos que tratam do portador da SD e sua família, a maioria se referia ao impacto e ao luto diante da notícia de que seu filho era Down. Isto despertou o interesse em investigar a dinâmica de famílias de crianças Down. Este foi o ponto de partida para a realização do segundo estudo, empírico e qualitativo, que teve como objetivo analisar, através de uma Entrevista Semiestruturada, a dinâmica de famílias que possuem crianças com a SD. Os resultados foram submetidos à Análise de Conteúdo e constatou-se que o diagnóstico tardio e o despreparo emocional do médico para dar a notícia dificultam a aceitação da criança Down por parte das famílias, despertando, nos cuidadores, sentimentos de choque, tristeza, revolta e negação. Além disso, observou-se que cada momento da vida vem permeado de preocupações específicas que podem gerar stress, o que deu origem ao terceiro e último estudo desta dissertação que pretendeu analisar o stress e a qualidade de vida dos cuidadores dessas crianças, utilizando dois instrumentos: Inventário de Sintomas de Stress para Adultos de Lipp (2000) e Inventário de Qualidade de Vida (Lipp & Rocha, 1996). Os resultados deste estudo mostram que os cuidadores que trabalham são menos estressados e que aqueles que são mais estressados têm sua qualidade de vida reduzida, principalmente do ponto de vista da saúde.
557

Využitie extracelulárnych nukleových kyselín na neinvazívnu prenatálnu diagnostiku monogénne dedičných porúch, komplikácií tehotenstva asociovaných s placentárnou insuficienciou a Downovho syndrómu / The use of cell-free nucleic acids in maternal plasma for non-invasive prenatal diagnosis of monogenic diseases, placental insufficiency-related complications and Down syndrome

Veselovská, Lenka January 2011 (has links)
Since the discovery of cell-free fetal DNA in peripheral blood of pregnant women, cell-free nucleic acids in maternal plasma are explored in relation to non-invasive prenatal diagnosis of various fetal conditions and pregnancy complications. Non-invasive prenatal diagnosis of monogenic diseases represented by TSC1-linked tuberous sclerosis could be achieved by detection of paternally-inherited mutant allele in the pool of maternal alleles in plasma. Reliability of detection of mutant allele could be improved by simultaneous mutation haplotype analysis or detection of universal fetal marker. None of the 3 methods (allele- specific real-time PCR, SNaPshot minisequencing and quantitative fluorescent PCR) evaluated using artificial mixtures and maternal plasma samples reliably and accurately detected low-frequency allele distinguished by point mutation, SNP or microsatellite in TSC1 gene or in its close proximity. We developed a strategy for prediction of proportion of informative couples for panel of SNPs of interest that can be applied to any monogenic disease. Exploiting differential methylation of promoters of genes RASSF1A, HLCS and OLIG2 in maternal and fetal genome, we failed to establish functional fetal marker. MicroRNAs of placental origin released into plasma could serve as biomarkers of...
558

Effect of Epigallocatechin-3-gallate on Skeletal and Cognitive Phenotypes in a Down Syndrome Mouse Model

Abeysekera, Irushi Shamalka January 2014 (has links)
Indiana University-Purdue University Indianapolis (IUPUI) / Down syndrome (DS), a genetic disorder that affects ~1 in 700 live births, is caused by trisomy of human chromosome 21 (Hsa21). Individuals with DS are affected by a wide spectrum of phenotypes which vary in severity and penetrance. However, cognitive and skeletal impairments can be commonly observed in all individuals with DS. To study these phenotypes, we utilized the Ts65Dn mouse model that carries three copies of approximately half the gene orthologs found on Hsa21 and exhibit similar phenotypes as observed in humans with DS. Individuals with DS and Ts65Dn mice have deficits in bone mineral density (BMD), bone architecture, bone strength, learning and memory. Over-expression of DYRK1A, a serine-threonine kinase encoded on Hsa21, has been linked to deficiencies in DS bone homeostasis and cognition. Epigallocatechin-3-gallate (EGCG), an aromatic polyphenol found in high concentrations in green tea, is a selective inhibitor of DYRK1A activity. Normalization of DYRK1A activity by EGCG therefore may have the potential to ameliorate skeletal and cognitive deficits. We hypothesized that supplements containing EGCG obtained from health food stores/ online vendors will not be as effective as EGCG from a chemical company in correcting bone deficits associated with DS. Our results suggest that EGCG improves the bone mineral density of trisomic femurs significantly better than the supplements while the EGCgNOW supplement from NOW FOODS improves trabecular and cortical bone structure. The results from HPLC analysis of supplements showed the presence of other catechins in EGCgNOW and degradation analysis revealed the rapid degradation of supplements. Therefore we hypothesize that the presence of EGCG degradation products and other green tea catechins in supplements may play a role in the differential skeletal effects we observed. We further hypothesized that a three week treatment of adolescent mice with EGCG will lead to an improvement in the learning and memory deficits that are observed in trisomic animals in comparison to control mice. However, our results indicate that three weeks of low-dose EGCG treatment during adolescence is insufficient to improve hippocampal dependent learning and memory deficits of Ts65Dn mice. The possibility remains that a higher dose of EGCG that begins at three weeks but lasts throughout the behavioral test period may result in improvement in learning and memory deficit of Ts65Dn mice.
559

Molecular and Cellular Mechanisms Leading to Similar Phenotypes in Down and Fetal Alcohol Syndromes

Solzak, Jeffrey Peter 22 August 2013 (has links)
Indiana University-Purdue University Indianapolis (IUPUI) / Down syndrome (DS) and Fetal Alcohol Syndrome (FAS) are two leading causes of birth defects with phenotypes ranging from cognitive impairment to craniofacial abnormalities. While DS originates from the trisomy of human chromosome 21 and FAS from prenatal alcohol consumption, many of the defining characteristics for these two disorders are stunningly similar. A survey of the literature revealed over 20 similar craniofacial and structural deficits in both human and mouse models of DS and FAS. We hypothesized that the similar phenotypes observed are caused by disruptions in common molecular or cellular pathways during development. To test our hypothesis, we examined morphometric, genetic, and cellular phenotypes during development of our DS and FAS mouse models at embryonic days 9.5-10.5. Our preliminary evidence indicates that during early development, dysregulation of Dyrk1a and Rcan1, cardinal genes affecting craniofacial and neurological precursors of DS, are also dysregulated in embryonic FAS models. Furthermore, Caspase 3 was also found to have similar expression in DS and FAS craniofacial neural crest derived tissues such as the first branchial arch (BA1) and regions of the brain. This may explain a developmental deficit by means of apoptosis. We have also investigated the expression of pAkt, a protein shown to be affected in FAS models, in cells located within the craniofacial precursor of Ts65Dn. Recent research shows that Ttc3, a gene that is triplicated and shown to be overexpressed in the BA1 and neural tube of Ts65Dn, targets pAkt in the nucleus affecting important transcription factors regulating cell cycle and cell survival. While Akt has been shown to play a role in neuronal development, we hypothesize that it also affects similar cellular properties in craniofacial precursors during development. By comparing common genotypes and phenotypes of DS and FAS we may provide common mechanisms to target for potential treatments of both disorders. One of the least understood phenotypes of DS is their deficient immune system. Many individuals with DS have varying serious illnesses ranging from coeliac disease to respiratory infections that are a direct result of this immunodeficiency. Proteasomes are an integral part of a competent and efficient immune system. It has been observed that mice lacking immunoproteasomes present deficiencies in providing MHC class I peptides, proteins essential in identifying infections. A gene, Psmg1 (Dscr2), triplicated in both humans and in Ts65Dn mice, is known to act as a proteasome assembly chaperone for the 20S proteasome. We hypothesized that a dysregulation in this gene promotes a proteasome assembly aberration, impacting the efficiency of the DS immune system. To test this hypothesis we performed western blot analysis on specific precursor and processed β-subunits of the 20S proteasome in thymic tissue of adult Ts65Dn. While the β-subunits tested displayed no significant differences between trisomic and euploid mice we have provided further insight to the origins of immunodeficiency in DS.
560

Rol van die ouers by die kontinue insluiting van leerders met Downsindroom in inklusiewe onderwys in Gauteng / The role of the parents in the continuous inclusion of learners with Down’s syndrome in inclusive school within Gauteng

Joubert, Karen 11 1900 (has links)
Text in Afrikaans / The purpose of this study is to identify the role of the parents in the continuous inclusion of learners with Down’s syndrome in inclusive education. The study was conducted in the South African context with the parents of children with Down’s syndrome and who are currently included in inclusive education in Gauteng. The roles that these parents play in the inclusion of their children were identified by means of semi-structured interviews. This was done according to a qualitative phenomenological research design within the theoretical framework of the bio-ecological model of Brunfenbrenner. Results from this study indicated that parents will have to fulfil specific roles in a multi-faceted manner to ensure continuous inclusion for these learners with Down’s syndrome in inclusive education. The primary contribution of this study is towards the expansion of the theoretical knowledge of the role of the parents in continuous inclusive education of learners with Down’s syndrome. / Die doel van hierdie studie is om die ouers se rol by die kontinue insluiting van leerders met Downsindroom in inklusieweonderwys te bepaal. Die studie is binne die Suid-Afrikaanse milieu onderneem met die ouers van leerders met Downsindroom wat tans gewone inklusieweonderwys in Gauteng ontvang. Semi-gestruktureerdeonderhoude is gebruik om die ouers se rol in die kontinue insluiting van hul kinders in gewone inklusiewe onderwys te identifiseer. Hierdie studie is volgens’n kwantitatiewefenomenologiesenavorsingsontwerp binne die teoretiese raamwerk van die bio-ekosistemiesebenaderingsmodel van Bronfenbrenner uitgevoer.Die bevindings van hierdie studie toon dat ouers spesifieke rolle behoort te vervul om hierdie leerders se kontinue insluiting in inklusiewe onderwys te verseker. Die primêre bydrae wat hierdie studie sal lewer, is tot die uitbreiding van teoretiese kennis aangaande die ouers se rol in die insluiting van leerders met Downsindroom in inklusiewe onderwys. / Inclusive Education / M. Ed. (Inklusiewe Onderwys)

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