Caracterização dos fatores ambientais no para esporte segundo o raciocínio clínico da CIF : a tecnologia assistiva, fatores pessoais, sociais e desempenho

Dissertação (mestrado)—Universidade de Brasília, Faculdade de Ceilândia, Programa de Pós-Graduação em Ciências da Reabilitação, 2017.Texto parcialmente liberado pelo autor. Conteúdo liberado: Resumo e Abstract.Introdução: O aumento de pessoas com deficiência nos esportes organizados acontece paralelamente ao avanço das políticas e Tecnologias Assistivas (TA), gerando benefícios sociais e qualidade de vida para os atletas. Entretanto, pouco existe na literatura sobre as tecnologias e suas peculiaridades na prática de esporte e tem-se como hipótese que os fatores ambientais podem influenciar na participação e desempenho de indivíduos com deficiências no esporte. Objetivo: Descrever e analisar os fatores ambientais associados ao esporte paraolímpico. Método: O trabalho foi dividido em três etapas: i) Uma revisão sistemática da literatura que buscou encontrar evidências sobre o uso de dispositivos de TA em esportes adaptados e paraolímpicos, considerando sua relação com desempenho e lesão. A revisão foi feita nas bases de dados nacionais e internacionais, nos últimos 16 anos e nos idiomas inglês e português. ii) Um estudo analítico e descritivo transversal em que participaram 63 indivíduos, jovens e adultos, de ambos os sexos, com algum tipo de deficiência e praticantes das modalidades de esporte paraolímpico no Centro de Treinamento do Distrito Federal. Foram aplicados o questionário do usuário de TA, desenvolvido pela autora, o questionário sociodemográfico da Associação Brasileira de Empresas de Pesquisa (ABEP) e os instrumentos QUEST e ATDPA-Br. iii) Estudo preliminar coorte em que foram reaplicados os instrumentos citados, com os resultados analisados segundo uma abordagem longitudinal. Resultados: A revisão sistemática apresentou 26 artigos, deste apenas um estudo avaliou a eficácia da TA no esporte adaptado, e os demais destacaram a incidência de lesões no esporte paraolímpico e desempenho sem associar a tecnologia utilizada. A cadeira de rodas foi predominante, estando presente em 22 dos artigos selecionados. O estudo analítico descritivo e de coorte mostraram que a maioria dos atletas são do sexo masculino e da raça branca, sendo predominante o diagnóstico de lesão medular e da modalidade de rugby. As TAs mais citadas foram cadeira de rodas, prótese e órtese. Conclusão: Os resultados desse estudo revelaram que existe uma lacuna nas pesquisas científicas sobre o uso da TA em esportes adaptados que utilizam os domínios da Classificação Internacional de Funcionalidade. Sendo que, apesar da TA estar presente no esporte paraolímpico, existem poucos estudos que avaliam a eficácia do seu uso e as correlacionam com lesões e/ou reabilitação. Além disso, constatou-se que a TA atua no esporte paraolímpico tanto como barreira, quando não é adequada e ineficiente, quanto como facilitador, já que promove um melhor desempenho e satisfação dos atletas.Fundação de Apoio à Pesquisa do Distrito Federal (FAP-DF).Introduction: The rising of people with disabilities in organized sports is happening in parallel to the advance of the Assistive Technologies (AT) policies, generating social benefits and quality of life for athletes. However, there is little being reported in the literature about technologies and its peculiarities in the practice of those sports. Objective: Describe and analyze the environmental factors associated with para sports. Method: This work was split in three parts: i) A systematic review of the literature that sought to find evidence on the use of AT devices in adapted and Paralympic sports, considering its relationship with performance and injury. This review was done in national and international databases, in the last 16 years and in English and Portuguese languages. ii) A cross-sectional analytical and descriptive study was performed with 63 individuals, young and adults, of both sexes, with some type of disability and athletes of the Federal District Training Center. We applied the questionnaire developed by the author and the socio demographic of the Brazilian Association of Research Companies (ABEP) and the instruments QUEST and ATDPA-Br. iii) A preliminary cohort study was conducted with the mentioned instruments and the results were analyzed according to a longitudinal approach. Results: The systematic review presented 26 articles and only one study evaluated the efficacy of AT in the adapted sport. The others papers highlighted the athletes performance and the incidence of injuries in sports without associating the technology used. The wheelchair was predominant with being present in 22 of the selected papers. The descriptive and cohort analytical study showed that the majority of athletes are male, white, with a prevalent spinal cord injury and rugby players. The most common cited AT‟s were: wheelchair, prosthesis and orthosis. Conclusion: The results of this study revealed a gap in scientific research on the use of AT in adapted sports which use domains of the International Classification of Functionality. Although AT is present in sports, few studies evaluate the effectiveness of its use and correlate it with injuries and/or rehabilitation. In addition, we concluded that AT can act in the para sport either as a barrier, when it is not adequate or inefficient, or as a facilitator, since it promotes better performance and satisfaction of the para athletes

Avaliações para indicação de tecnologia assistiva utilizadas por terapeutas ocupacionais

Monografia (graduação)—Universidade de Brasília, Faculdade de Ceilândia, Curso de Graduação em Terapia Ocupacional, 2013.O conceito de Tecnologia Assistiva vem sendo discutido ao longo dos anos, tanto em nível nacional quanto internacionalmente. O avanço dessa tecnologia proporciona para as pessoas com deficiência a obtenção de maior controle sobre suas vidas, maior participação social e contribuição nas atividades desenvolvidas em casa, escola, trabalho e comunidade, propiciando uma interação com as outras pessoas e tendo as mesmas oportunidades que elas, obtendo, assim, o máximo de independência e qualidade de vida. Devido à aplicabilidade em pessoas com limitações ou deficiências, a Tecnologia Assistiva tornou-se objeto de estudo da área de Terapia Ocupacional. Diante de todo esse contexto é importante entender quais são os métodos utilizados pelos Terapeutas Ocupacionais no âmbito de indicação e implementação de Tecnologia Assistiva. O processo de avaliação na Terapia Ocupacional consiste investigação do perfil ocupacional e na análise do desempenho ocupacional, podendo ocorrer formalmente ou informalmente, sendo conduzida pelo Terapeuta Ocupacional e focada no que o cliente deseja. Com isso, este estudo teve por objetivo caracterizar a produção científica no que se refere ao uso de avaliação no processo de indicação e implementação de Tecnologia Assistiva no contexto nacional, identificando e discutindo os instrumentos de avaliação utilizados. Para isso, foi realizada a revisão da literatura utilizando-se as bases de dados Lilacs, Scielo, MEDLINE e PUBMED, com as palavras chaves avaliação, tecnologia assistiva e terapia ocupacional. Os resultados mostraram seis estudos os quais foram analisados por meio da análise bibliométrica e crítica. A primeira análise mostrou que as publicações mais frequentes foram no ano de 2010, e não obtendo publicação anterior a 2006, em relação à área do artigo, predominaram estudos da Enfermagem e da Terapia Ocupacional, e destes, a maior parte ensaios clínicos. Já a análise critica mostrou que o formulário semiestruturado foi utilizado na maioria dos estudos, sendo utilizadas algumas avaliações padronizadas, porém, nenhuma específica para Tecnologia Assistiva. Reforça-se a necessidade de investimentos nessa área, devido à escassez de estudos, em especial em âmbito nacional. ___________________________________________________________________________ ABSTRACTAssistive Technology concept has been discussed over the years, at both national and international levels. The development of this technology offers to disable people a greater control over their lives, broader social participation and the possibility of taking part in activities at home, at school, at work and within the community, stimulating interaction with other people. They would also have the same opportunities as other people have, achieving full independence and quality of life. Assistive Technology, due to its applicability in people with physical limitations or disabilities, became object of study of Occupational Therapy. Therefore, Occupational Therapy assessment process will consist of occupational profile and performance analysis, carried out formally or informally, conducted by the Occupational Therapist and focused on client’s needs, on what is necessary to be done, on what can be done and how it has being done, identifying factors that operate as facilitators or barriers. In view of this context, it is important to understand which methods are used by Occupational Therapists in relation to indication and implementation of Assistive Technology. The aim of this study was to characterize scientific production concerning the use of assessment in the Assistive Technology implementation process in Brazil, identifying and investigating Assistive Technology assessment, indication and implementation instruments. Therefore, this research analyzed qualitatively six studies. Results showed that all studies were Brazilian, written in Portuguese, most of them from 2010. We did not find any study on the subject published before 2006. Regarding articles’ area of knowledge, great part of them were clinic trials, from Nursing and Occupational Therapy areas. In a second analysis, regarding studies’ content, we observed that the semistructured form and also some standard evaluations were used in most studies, although none of them were Assistive Technology specific. We emphasize the necessity of investments in Assistive Technology, due to the lack of studies in this area, especially in Brazil

Tecnologia Assistiva e paraesporte: revisão da literatura / Assistive Technology and handisport: literature review

Introdução: O aumento de pessoas com deficiência nos esportes organizados acontece paralelamente ao avanço das políticas e Tecnologia Assistiva (TA), gerando benefícios sociais e qualidade de vida para os atletas. Entretanto, pouco se tem relatado na literatura sobre as tecnologias e suas peculiaridades na prática do paraesporte. Assim, este estudo teve como objetivo caracterizar e analisar a produção científica referente ao tema de TA no paraesporte e esporte adaptado. Método: Foi realizada a revisão de literatura nas bases de dados nacionais e internacionais, Pubmed, Cochrane, Bireme e Scielo, de 2000 a 2017, nos idiomas inglês e português, utilizando-se os descritores: traumatismos em atletas, pessoas com deficiência, equipamento de autoajuda, reabilitação. Resultados/Discussão: Foram encontrados 26 artigos científicos, sendo estes analisados quantitativa e qualitativamente, categorizados em estudos de TA relacionados: à lesão e ao desempenho, estudos de revisão de literatura e de validação de instrumentos. As tecnologias encontradas foram: muleta, órtese, protocolo para sistema de vigilância, questionário e cadeira de rodas. Os temas encontrados foram: a eficácia da tecnologia assistiva no esporte adaptado, a incidência de lesões no paraesporte e o desempenho no esporte adaptado, sem associar diretamente a tecnologia utilizada. A cadeira de rodas foi o dispositivo de TA predominante nos estudos, estando presente em 22 dos artigos. Conclusão: Os resultados apontaram uma lacuna nos relatos de uso de TA em esportes adaptados, comprovando a necessidade de estudos sobre o tema, principalmente no paraesporte como ocupação e o uso de TA, para propor melhorias nos dispositivos e seu uso em diversos esportes.AbstractIntroduction: The increase in the amount of people with disability in the adapted organized sports occurs side by side with the advance of new politics and Assistive Technologies (AT). However, there are few studies about these technologies and their particularities in parasports. Thus, this study aimed to characterize and analyze the scientific production related to the theme AT in parasport and in adapted sport. Method: was done a literature review in the national and international databases, such as: Pubmed, Cochrane, Bireme and Scielo, into 2000 and 2017, in the English and Portuguese languages, using the descriptors: athletic injuries, people with disabilities, assistive technology and rehabilitation. Results/Discussion: In total, 26 articles were analyzed in quality and quantity and we found the technologies in the following categories: injuries related to ATs, performance, literature review and instrument’s validation. The technologies mentioned were: crutch, bracing, protocol for surveillance system, questionnaire and wheelchair. They were discussed in the context of adapted sports, number of injuries and performance with no mention to the technology used. The wheelchair was the predominant AT, with mention in 22 articles. Conclusion: Therefore, this review indicates the need of more studies about the theme and, mainly in parasport as occupation and the use of a AT, to understand how to improve the existing technologies.Keywords: Persons with disabilities. Self-help devices. Sports for persons with disabilities. Occupational therapy. Social Participation.ResumenEl aumento de las personas con discapacidad en los deportes organizados ocurre paralelamente al avance de las políticas y Tecnologías Asistivas (TA), generando beneficios sociales y calidad de vida para los atletas. Sin embargo, poco se ha relatado en la literatura sobre las tecnologías y sus peculiaridades en la práctica del paradeporte. Así, este estudio tenía como objetivo caracterizar y analizar la producción científica relacionada con el tema de la TA en el deporte paraportado y adaptado. Para ello, se llevó a cabo una revisión de la literatura en bases de datos nacionales e internacionales, PubMed, Cochrane, Scielo Bireme y, de 2000 a 2017, en Inglés y portugués, usando las palabras clave: traumatismos en atletas, las personas con discapacidad, la tecnología de asistencia y rehabilitación. Se encontraron 26 artículos científicos, siendo estos analizados cuantitativa y cualitativamente, categorizados en estudios de TA relacionados: a la lesión y al desempeño, estudios de revisión de literatura y de validación de instrumentos. Las tecnologías encontradas fueron: muleta, órtesis, protocolo para sistema de vigilancia, cuestionario y silla de ruedas. Los temas encontrados fueron: la eficacia de la tecnología asistiva en el deporte adaptado, la incidencia de lesiones en el paraporte y el desempeño en el deporte adaptado, sin asociar directamente la tecnología utilizada. La silla de ruedas fue la TA predominante en los estudios, estando presente en 22 de los artículos. Los resultados apuntaron una laguna en los relatos de uso de TA en deportes adaptados, comprobando la necesidad de estúdios en el tema, principalmente en paraesprote como ocupación y el uso de AT, para proponer mejoras en los dispositivos y su uso en diversos deportesPalabras clave: Personas con discapacidad. Tecnología asistiva. Deporte para personas con discapacidad. Terapia ocupacional. Medicina de Rehabilitación. Participación social

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

Autosomal Dominant Hypercholesterolemia (ADH), characterized by isolated elevation of plasmatic LDL cholesterol and premature cardiovascular complications, is associated with mutations in 3 major genes: LDLR (LDL receptor), APOB (apolipoprotein B) and PCSK9 (proprotein convertase subtilisin-kexin type 9). Through the French ADH Research Network, we collected molecular data from 1358 French probands from eleven different regions in France. Mutations in the LDLR gene were identified in 1003 subjects representing 391 unique events with 46.0% missense, 14.6% frameshift, 13.6% splice, and 11.3% nonsense mutations, 9.7% major rearrangements, 3.8% small in frame deletions/insertions, and 1.0% UTR mutations. Interestingly, 175 are novel mutational events and represent 45% of the unique events we identified, highlighting a specificity of the LDLR mutation spectrum in France. Furthermore, mutations in the APOB gene were identified in 89 probands and in the PCSK9 gene in 10 probands. Comparison of available clinical and biochemical data showed a gradient of severity for ADH-causing mutations: FH=PCSK9>FDB>‘Others’ genes. The respective contribution of each known gene to ADH in this French cohort is: LDLR 73.9%, APOB 6.6%, PCSK9 0.7%. Finally, in 19.0% of the probands, no mutation was found, thus underscoring the existence of ADH mutations located in still unknown genes. © 2010 Wiley-Liss, Inc

Performance evaluation for prescription of assistive technology devices

Introdução: A indicação e implementação da Tecnologia Assistiva (TA), quando realizada de forma integrada, pode auxiliar na prescrição de dispositivos que favoreçam a maior participação nas atividades cotidianas, atenuando o impacto imposto pelas limitações funcionais de indivíduo com deficiência física . Objetivo: verificar as contribuições do uso da Medida Canadense de Desempenho Ocupacional (COPM), fundamentada na prática centrada no cliente, no momento da indicação de TA. Procedimentos metodológicos: Trata-se de um estudo descritivo transversal realizado com 31 indivíduos com deficiência física de um hospital público do Distrito Federal. A coleta de dados ocorreu por meio da aplicação da avaliação COPM, sendo realizada a categorização das TA a partir do levantamento das áreas de desempenho mais comprometidas. Resultados: Do total de participantes, 51,6 % (n=16) solicitaram alguma indicação e/ou confecção de TA. A área de autocuidado foi apontada como a mais comprometida (96,7%), concentrando também, maior número de solicitações de TA. Conclusão: Este estudo pode contribuir com as pesquisas que investigam o uso de avaliações para a indicação de dispositivos e, espera-se que novas pesquisas possam dar continuidade a este processo, priorizando a participação ativa do indivíduo no momento de avaliar as necessidades do uso da TA.Introduction: The prescription and implementation of Assistive Technology (AT), when done correctly, can alleviate the impact functional limitations have on physically disabled individuals, providing them with greater participation in everyday activities. Objective: To verify the contributions of using the Canadian Occupational Performance Measure (COPM), which is focused on the client’s performance, when prescribing the use of AT. Methods: This is a research of descriptive transversal character, carried out with 31 patients from a public hospital in the Federal District. Data collection was carried out through the application of the COPM evaluation, and the study of the most compromised performance areas was useful for the categorization of the Assistive Technology devices. Results: From the total of participants, 51.6% (n=16) asked for indication and/or production of an AT device. The self-care area was the most compromised (96.7%), and also had the most requests for AT devices. Conclusion: This study can contribute to studies that investigate the use of evaluations for the prescription of devices. We hope that new researches can give this process continuity, prioritizing an active participation of the client when evaluating the need for an AT device

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated increase in plasmatic low-density lipoprotein (LDL) cholesterol levels associated with high risk of premature cardiovascular disease. Mutations in LDLR, APOB, and PCSK9 genes have been shown to cause ADH. We now report further genetic heterogeneity of ADH through the study of a large French family in which the involvement of these three genes was excluded. A genome-wide scan mapped the disease-causing gene, named HCHOLA4, at 16q22.1 in a 7.89-Mb interval containing 154 genes with a maximum LOD score of 3.9. To reduce the linked region, we genotyped 18 smaller non-LDLR/non-APOB/non-PCSK9-ADH families at the HCHOLA4 locus. Six families did not exclude linkage to the locus, but none allowed reduction of the disease interval. The 154 regional genes were sorted according to the function of the encoded protein and tissue expression profiles, and 57 genes were analyzed through sequencing of their coding region and close flanking intronic parts. No disease-causing mutation was identified in these families, particularly in the LCAT gene. Finally, our results also show the existence of other ADH genes as nine families were neither linked to LDLR, APOB, and PCSK9 genes nor to the new HCHOLA4 locus

NEOTROPICAL CARNIVORES: a data set on carnivore distribution in the Neotropics

Mammalian carnivores are considered a key group in maintaining ecological health and can indicate potential ecological integrity in landscapes where they occur. Carnivores also hold high conservation value and their habitat requirements can guide management and conservation plans. The order Carnivora has 84 species from 8 families in the Neotropical region: Canidae; Felidae; Mephitidae; Mustelidae; Otariidae; Phocidae; Procyonidae; and Ursidae. Herein, we include published and unpublished data on native terrestrial Neotropical carnivores (Canidae; Felidae; Mephitidae; Mustelidae; Procyonidae; and Ursidae). NEOTROPICAL CARNIVORES is a publicly available data set that includes 99,605 data entries from 35,511 unique georeferenced coordinates. Detection/non-detection and quantitative data were obtained from 1818 to 2018 by researchers, governmental agencies, non-governmental organizations, and private consultants. Data were collected using several methods including camera trapping, museum collections, roadkill, line transect, and opportunistic records. Literature (peer-reviewed and grey literature) from Portuguese, Spanish and English were incorporated in this compilation. Most of the data set consists of detection data entries (n = 79,343; 79.7%) but also includes non-detection data (n = 20,262; 20.3%). Of those, 43.3% also include count data (n = 43,151). The information available in NEOTROPICAL CARNIVORES will contribute to macroecological, ecological, and conservation questions in multiple spatio-temporal perspectives. As carnivores play key roles in trophic interactions, a better understanding of their distribution and habitat requirements are essential to establish conservation management plans and safeguard the future ecological health of Neotropical ecosystems. Our data paper, combined with other large-scale data sets, has great potential to clarify species distribution and related ecological processes within the Neotropics. There are no copyright restrictions and no restriction for using data from this data paper, as long as the data paper is cited as the source of the information used. We also request that users inform us of how they intend to use the data

Health-status outcomes with invasive or conservative care in coronary disease

BACKGROUND In the ISCHEMIA trial, an invasive strategy with angiographic assessment and revascularization did not reduce clinical events among patients with stable ischemic heart disease and moderate or severe ischemia. A secondary objective of the trial was to assess angina-related health status among these patients. METHODS We assessed angina-related symptoms, function, and quality of life with the Seattle Angina Questionnaire (SAQ) at randomization, at months 1.5, 3, and 6, and every 6 months thereafter in participants who had been randomly assigned to an invasive treatment strategy (2295 participants) or a conservative strategy (2322). Mixed-effects cumulative probability models within a Bayesian framework were used to estimate differences between the treatment groups. The primary outcome of this health-status analysis was the SAQ summary score (scores range from 0 to 100, with higher scores indicating better health status). All analyses were performed in the overall population and according to baseline angina frequency. RESULTS At baseline, 35% of patients reported having no angina in the previous month. SAQ summary scores increased in both treatment groups, with increases at 3, 12, and 36 months that were 4.1 points (95% credible interval, 3.2 to 5.0), 4.2 points (95% credible interval, 3.3 to 5.1), and 2.9 points (95% credible interval, 2.2 to 3.7) higher with the invasive strategy than with the conservative strategy. Differences were larger among participants who had more frequent angina at baseline (8.5 vs. 0.1 points at 3 months and 5.3 vs. 1.2 points at 36 months among participants with daily or weekly angina as compared with no angina). CONCLUSIONS In the overall trial population with moderate or severe ischemia, which included 35% of participants without angina at baseline, patients randomly assigned to the invasive strategy had greater improvement in angina-related health status than those assigned to the conservative strategy. The modest mean differences favoring the invasive strategy in the overall group reflected minimal differences among asymptomatic patients and larger differences among patients who had had angina at baseline