Orientador: Mônica Fernandes Gomes / Banca: José Elias Matieli / Banca: José Benedito Oliveira Amorim / Resumo: Esta pesquisa avaliou por meio de análise eletromiográfica de superfície (EMGs)os efeitos terapêuticos de um dispositivo intrabucalsobre as atividades elétricas dos músculos masseter (porção superficial) e temporal (porção anterior), bilateralmente, em pacientes com síndrome de Down. A amplitude de abertura bucal, a intensidade de força mastigatória total (FMT) foram, também, investigadas por meio de paquímetro e transdutor de força. Adicionalmente, medidas antropométricas, incluindo índice de massa corporal (IMC), circunferências do pescoço (P) e abdominal (A) e relação cintura e quadril (RCQ) foram analisadas antes e após dois meses de terapia com DM. Dez pacientes com síndrome de Down, adultos, de ambos os gêneros, foram submetidos a uma terapia com um dispositivo mastigatório (DM). Os registros eletromiográficos foram realizados para avaliar a atividade elétrica dos músculos masseter e temporal, antes e após a terapia preconizada.Diante dos resultados obtidos, conclui-se que o DM promoveu diminuição das atividades elétricas do músculo temporal em condição de repouso da mandíbula e aumento da abertura bucal, conferindo um possível equilíbrio no sistema muscular mastigatório. A atividade elétrica na contração isométrica do músculo masseter e temporal foi aumentada, sugerindo uma maximização nas unidades motoras. A discreta redução do IMC e da RCQ indica, provavelmente, uma melhoria na distribuição de gordura corporal dos pacientes.Portanto, o DM colaborou para a melhoria do... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: This research evaluated the therapeutic effects of an intrabuccal device on the electrical activities of the masseter (superficial portion) and temporal (anterior portion) muscles, bilaterally, in patients with Down syndrome by means of surface electromyographic analysis (EMGs). The mouth opening amplitude and the total masticatory force intensity (FMT) were also investigated by means of a pachymeter and force transducer. In addition, anthropometric measurements, including body mass index (BMI), neck (P) and abdominal (A) circumference and waist and hip ratio (WHR) were analyzed before and after two months of DM therapy. Ten patients with Down syndrome, adults of both genders, underwent masticatory (DM) therapy. The electromyographic records were performed to evaluate the electrical activity of the masseter and temporal muscles, before and after the recommended therapy. In view of the obtained results, it was concluded that DM promoted a decrease in the electrical activities of the temporal muscle in a condition of rest of the mandible and increase of the buccal opening, conferring a possible balance in the muscular masticatory system. The electrical activity in the isometric contraction of the masseter and temporal muscle was increased, suggesting a maximization in the motor units. The discrete reduction in BMI and WHR probably indicates an improvement in patients' body fat distribution. Therefore, DM collaborated to improve the biomechanical performance of mastication / Mestre

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This thesis presents a study of children’s speech. The children have Down syndrome (DS). Often the speech of children with DS is hard for other people to understand. The aim of the study is to try a new way of describing these children’s speech. My perspective reflects an ambition to conceive the children as active, speaking subjects. In phenomenology human beings are regarded as always being intentional. The phenomenological perspective on intentionality views articulation as intentional, even though we normally experience it as “automatic”. This seemed to be a fertile perspective for this study, where the central focus is on the intentionality in the speech, i.e. the relation between the speaker and his or her speech while speaking. I have drawn mainly on Merleau-Ponty’s views on speech. The speech of four children 6–7 years old was studied. The children were videotaped together with an adult in a specific situation (while naming pictures of familiar objects). The children’s speech was transcribed phonetically and some of the words were subjected to acoustic analysis. The main features of the situation were noted down. By means of the acoustic analysis, it was possible to study particular words in minute detail. These words were interpreted in relation to the context in which each utterance was made. The four children all differ individually in their speaking strategies. The children’s speaking strategies may be described as flexible or rigid, diversified or undiversified. Within the child’s total expression there is a part which, in my opinion, the child could reach and develop. In my study, I introduce the terms the accessible speech or the accessible expression for that part of the child’s expression. By the terms the visible speech or the visible expression, I have tried to capture the part of the expression which I conceive that the child is capable of approaching as an object. The terms accessibility and visibility involve the notion of intentionality; the speech is accessible or visible to someone. The children show us what is within reach for them. I believe that a good starting point for supporting the children’s speech development is the point where they reveal accessible and/or visible speech.

The aim of the current study was twofold: first, to examine the relationship between participants attitudes and their decisions about selective reproduction; second, to examine the influence of information about Down syndrome (DS) on these same decisions. As a preliminary step in investigating the influence of attitudes and information presentation on selective reproduction decisions, the current study examined the hypothetical decisions of female undergraduate students. Although presenting more positive information about DS did not appear to influence hypothetical decisions about selective reproduction, participants attitudes were related to these decisions. Specifically, attitudes toward persons with DS were related to decisions about prenatal screening. For decisions about prenatal testing and selective abortion, though, perceptions of parenting a child with DS mediated the relationship between attitudes and reproductive intentions. These findings suggest that women may be more likely to personalize their decisions about prenatal testing and selective reproduction by considering their perceptions of parenting a child with DS. These findings also suggest that informed decision making may require the inclusion of different information at the different decision stages (i.e., screening, testing, and selective abortion). In order to facilitate informed decision making, and in an attempt to ensure that attitudes toward persons with DS are informed by multiple perspectives, expanded information about DS should be included in prenatal screening protocols. Similarly, because perceptions of parenting appear to play a role in later decisions, information about raising a child with DS should be included in prenatal testing and selective abortion counselling sessions.

Children with Down Syndrome (DS) experience cognitive delays with language being one of the most impaired domains. Exploring the effects of congenital heart defects (CHD), hospitalization, hearing impairment, and parental concern can provide a more precise view of factors affecting language development. Participants were 49 children with DS, 22 to 54 months of age. Expressive and receptive vocabulary size was obtained using a word count with the MacArthur Communication Development Inventory (MCDI). Medical information was obtained from the child’s medical file. Results showed expressive vocabulary was marginally significantly different between children with DS and no CHD, a CHD that did not require surgery, and a CHD that did require surgery, such that children with a CHD requiring surgery had the smallest vocabulary. Children had significantly more health problems when they had a CHD that required surgery. Expressive and receptive vocabularies were significantly smaller for children with hearing impairment.

The aim of the current study was twofold: first, to examine the relationship between participants attitudes and their decisions about selective reproduction; second, to examine the influence of information about Down syndrome (DS) on these same decisions. As a preliminary step in investigating the influence of attitudes and information presentation on selective reproduction decisions, the current study examined the hypothetical decisions of female undergraduate students. Although presenting more positive information about DS did not appear to influence hypothetical decisions about selective reproduction, participants attitudes were related to these decisions. Specifically, attitudes toward persons with DS were related to decisions about prenatal screening. For decisions about prenatal testing and selective abortion, though, perceptions of parenting a child with DS mediated the relationship between attitudes and reproductive intentions. These findings suggest that women may be more likely to personalize their decisions about prenatal testing and selective reproduction by considering their perceptions of parenting a child with DS. These findings also suggest that informed decision making may require the inclusion of different information at the different decision stages (i.e., screening, testing, and selective abortion). In order to facilitate informed decision making, and in an attempt to ensure that attitudes toward persons with DS are informed by multiple perspectives, expanded information about DS should be included in prenatal screening protocols. Similarly, because perceptions of parenting appear to play a role in later decisions, information about raising a child with DS should be included in prenatal testing and selective abortion counselling sessions.

Virtually all signaling pathways that play key roles in development such as the transfroming growth factor (TGF)-beta, notch, and wnt pathways also influence tumor formation, implying that cancer is in a sense development gone awry. Therefore, identification and elucidation of developmental pathways has great potential for generating new diagnostic tools and molecular therapy targets. Singleminded-2s (SIM2s), a splice variant of the basic helilx-loop-helix / PER-ARNT-SIM (bHLH/PAS) transcriptional repressor Singleminded-2, is lost or repressed in approximately 70% of human breast tumors and has a profound influence on normal mammary development. In order to gain a better understanding of the mechanisms by which SIM2s restricts malignant transformation and progression in breast cancer, we depleted SIM2 RNA in MCF-7 cells using a retroviral shRNA system and examined gene expression and functional abilities of the SIM2-depleted MCF-7 cells (SIM2i) relative to a control MCF line expressing a non-specific “scrambled” shRNA (SCR). Depletion of SIM2 resulted in an epithelial-mesenchymal transition (EMT)-like effect characterized by increased migration and invasion, altered morphology, and loss of epithelial markers concomitant with gain of mesenchymal markers. The root of this effect may be loss of SIM2- mediated repression of the E-cadherin repressor slug, as SIM2 is able to bind and repress transcription from the slug promoter, and slug expression is dramatically elevated in SIM2i MCF-7 cells. Consistent with the previously established role of slug in resistance to various cancer therapies, SIM2i cells are resistant to the radiomimetic doxorubicin and appear to have elevated self-renewal capacity under certain conditions. Intriguingly, SIM2 protein levels are elevated by treatment with DNA damaging agents, and SIM2 interacts with the p53 complex via co-regulation of specific p53- target gene such as p21/WAF1/CIP1. These results provide a plausible mechanism for the tumor suppressor activity of SIM2, and provide insight into a novel tumor suppressive transcriptional circuit that may have utility as a therapeutic target.

Thesis (M.S.)--University of Wisconsin -- La Crosse, 2004. / Includes bibliographical references.

Thesis (Ph. D.)--University of Washington, 2002. / Vita. Includes bibliographical references (leaves 94-99).