998 resultados para HEREDITARY MOTOR


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Dissertação apresentada para obtenção do Grau de Doutor em Engenharia Electrotécnica e de Computadores, especialidade em Máquinas Eléctricas pela Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia

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Dissertação para obtenção do Grau de Mestre em Engenharia Electrotécnica e de Computadores

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Stroke is one of the most common conditions requiring rehabilitation, and its motor impairments are a major cause of permanent disability. Hemiparesis is observed by 80% of the patients after acute stroke. Neuroimaging studies showed that real and imagined movements have similarities regarding brain activation, supplying evidence that those similarities are based on the same process. Within this context, the combination of mental practice (MP) with physical and occupational therapy appears to be a natural complement based on neurorehabilitation concepts. Our study seeks to investigate if MP for stroke rehabilitation of upper limbs is an effective adjunct therapy. PubMed (Medline), ISI knowledge (Institute for Scientific Information) and SciELO (Scientific Electronic Library) were terminated on 20 February 2015. Data were collected on variables as follows: sample size, type of supervision, configuration of mental practice, setting the physical practice (intensity, number of sets and repetitions, duration of contractions, rest interval between sets, weekly and total duration), measures of sensorimotor deficits used in the main studies and significant results. Random effects models were used that take into account the variance within and between studies. Seven articles were selected. As there was no statistically significant difference between the two groups (MP vs control), showed a - 0.6 (95% CI: -1.27 to 0.04), for upper limb motor restoration after stroke. The present meta-analysis concluded that MP is not effective as adjunct therapeutic strategy for upper limb motor restoration after stroke.

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Dissertação para obtenção do Grau de Mestre em Engenharia Electrotécnica e de Computadores

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Introdução: A síndrome dolorosa miofascial (SDM) é uma das causas mais comuns de dor com origem músculo-esquelética, devendo-se sobretudo à existência de pontos gatilho (PG) miofasciais. O PG no músculo trapézio superior (TS), sob a sua forma latente, tem repercussões no equilíbrio muscular do complexo articular do ombro. A intervenção sobre este PG, através da compressão isquémica poderá ter benefícios no próprio músculo e no controlo motor do complexo articular do ombro. Objetivos: Pretende-se estudar a influência da intervenção no PG latente do músculo TS no controlo motor do ombro, analisando as alterações ao nível do timing de ativação muscular, das sequências em que o músculos ativam e do nível de atividade muscular ao longo do movimento. Métodos: Foi realizado um estudo do tipo experimental, aleatório e controlado com uma amostra dividida em dois grupos, grupo experimental (n=15) e grupo controlo (n=14). No grupo experimental foi realizada a técnica de compressão isquémica no PG do TS e no grupo controlo um procedimento placebo. Antes e após a intervenção foi recolhida a atividade eletromiográfica dos músculos grande dentado (GD), infra-espinhoso (IE), deltóide médio (DM), trapézio superior (TS) e trapézio inferior (TI), assim como os dados cinemáticos, durante o movimento de elevação do ombro no plano da omoplata. Foi analisado o timing de ativação muscular, as sequências de ativação e o nível de ativação muscular ao longo do arco de movimento, através da magnitude normalizada à contração muscular voluntária máxima. Resultados: Foi observada uma maior pré ativação do músculo GD, no grupo experimental após a intervenção (p=0,025) relativamente ao primeiro momento de avaliação. É de notar que após a intervenção, no GE, todos os músculos passaram a ativar no período típico dos ajustes posturais antecipatórios, não tendo o mesmo sido observado no grupo de controlo. Após a técnica, 37% dos indivíduos do grupo experimental passaram a ativar o GD em primeiro lugar, quando apenas um sujeito o fazia antes da intervenção. Destaca-se também um predomínio de 32% nas últimas posições, após a técnica, dos músculos trapézio superior e inferior. No GC não se verifica nenhuma tendência após a intervenção. Foram ainda observadas diferenças estatisticamente significativas entre os grupos nos arcos de movimento onde foi atingido 20% da contração isométrica voluntária máxima (CMVI) nos músculos DM (p=0,002), na primeira avaliação, e IE (p=0,021), após a intervenção, com um atraso da ativação do IE para valores superiores a 20% da CMVI. Conclusão: A compressão isquémica reflete-se na antecipação da atividade do músculo GD e num atraso do aumento da magnitude da atividade do IE para valores moderados,

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Introduction: Hepatitis C virus (HCV) infection in patients with hereditary bleeding disorders (HBDs), as a consequence of treatment with transfusion of human bloodderived components between the late 1970s and 1980s, represents a major health concern. Objectives: Assessment and evaluation of the burden of HCV infection, its complications, and treatment in a population of patients with HBDs. Methods: Analysis of a series of 161 patients with HBDs treated in the Immunohemotherapy Service of the Centro Hospitalar de Lisboa Central (Lisboa, Portugal), consultation and systematic review of the patients clinical processes, elaboration of a database comprising the information gathered; and statistical study of its variables: age, gender, degree of severity of the bleeding disorder, treatment modality, and major and minor complications of HCV infection. Results: Sixty-five (40%) of the 161 patients have HCV infection. Among the patients with hemophilia A, 36% are severe and 62% of those have HCV infection; 9% moderate with 57%; 25% mild with 20%. In the hemophilia B group, 8% are severe with 23% infected and 6% moderate or mild with 10%. Concerning the patients with von Willebrand disease, 12% have type 2 with 16% infected and 4% have type 3 with 86%. Conclusions: HCV infection represents a very significant complication of the treatment employed in the past in the studied population. Considering that most of these patients were infected in the late 1970s and early 1980s, and the natural evolution of HCV infection in patients without bleeding disorders, it is expected that the prevalence of major complications will rise significantly in the coming years. Prophylactic measures should be implemented to enhance the follow-up protocols and prevent further development of liver damage in these patients.

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Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.

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Dissertação para obtenção do Grau de Mestre em Engenharia Electrotécnica e de Computadores

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Dissertação para obtenção do Grau de Mestre em Engenharia Mecânica

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OBJECTIVE: Arthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) is considered a complication of hereditary hemochromatosis (HH). We have limited data comparing OA and OP prevalence among HH patients with different hemochromatosis type 1 (HFE) genotypes. We investigated the prevalence of OA and OP in patients with HH by C282Y homozygosity and compound heterozygosity (C282Y/H63D) genotype. METHODS: A total of 306 patients with HH completed a questionnaire. Clinical and demographic characteristics and presence of OA, OP and related complications were compared by genotype, adjusting for age, sex, body mass index (BMI), current smoking and menopausal status. RESULTS: In total, 266 of the 306 patients (87%) were homozygous for C282Y, and 40 (13%) were compound heterozygous. The 2 groups did not differ by median age [60 (interquartile range [IQR] 53 to 68) vs. 61 (55 to 67) years, P=0.8], sex (female: 48.8% vs. 37.5%, P=0.18) or current smoking habits (12.4% vs. 10%, P=0.3). As compared with compound heterozygous patients, C282Y homozygous patients had higher median serum ferritin concentration at diagnosis [1090 (IQR 610 to 2210) vs. 603 (362 to 950) µg/L, P<0.001], higher median transferrin saturation [80% (IQR 66 to 91%) vs. 63% (55 to 72%), P<0.001]) and lower median BMI [24.8 (22.1 to 26.9) vs. 26.2 (23.5 to 30.3) kg/m2, P<0.003]. The overall prevalence of self-reported OA was significantly higher with C282Y homozygosity than compound heterozygosity (53.4% vs. 32.5%; adjusted odds ratio [aOR] 2.4 [95% confidence interval 1.2-5.0]), as was self-reported OP (25.6% vs. 7.5%; aOR 3.5 [1.1-12.1]). CONCLUSION: Patients with C282Y homozygosity may be at increased risk of musculoskeletal complications of HH.

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OBJECTIVE: Hereditary hemochromatosis (HH) is a disease caused by mutations in the Hfe gene characterised by systemic iron overload and associated with an increased prevalence of osteoarthritis (OA) but the role of iron overload in the development of OA is still undefined. To further understand the molecular mechanisms involved we have used a murine model of HH and studied the progression of experimental OA under mechanical stress. DESIGN: OA was surgically induced in the knee joints of 10-week-old C57BL6 (wild-type) mice and Hfe-KO mice. OA progression was assessed using histology, micro CT, gene expression and immunohistochemistry at 8 weeks after surgery. RESULTS: Hfe-KO mice showed a systemic iron overload and an increased iron accumulation in the knee synovial membrane following surgery. The histological OA score was significantly higher in the Hfe-KO mice at 8 weeks after surgery. Micro CT study of the proximal tibia revealed increased subchondral bone volume and increased trabecular thickness. Gene expression and immunohistochemical analysis showed a significant increase in the expression of matrix metallopeptidase 3 (MMP-3) in the joints of Hfe-KO mice compared with control mice at 8 weeks after surgery. CONCLUSIONS: HH was associated with an accelerated development of OA in mice. Our findings suggest that synovial iron overload has a definite role in the progression of HH-related OA

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Dissertação para obtenção do Grau de Mestre em Engenharia Electrotécnica e de Computadores

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Relatório de Estágio apresentado para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Comunicação Estratégica

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Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina