Dissertations / Theses: 'Paraplegia'

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Souza, Lúcia Inês Macedo de. "Investigação genética de duas novas doenças neurodegenerativas: síndrome de Spoan (Spastic Paraglegia with Optic Atrophy and Neuropathy) e SPG34." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-06112008-164924/.

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Estudamos duas grandes famílias com manifestações de doenças neurodegenerativas. Uma delas é originária do alto oeste do estado do Rio Grande do Norte e a outra, da região de São José do Rio Preto, SP. A primeira, uma extensa família com tradição de casamentos consangüíneos, apresenta 68 indivíduos afetados pela síndrome a qual nomeamos Spoan (Spastic Paraplegia, Optic Atrophy, Neuropathy). A mesma é uma doença neurodegenerativa de herança autossômica recessiva, caracterizada por atrofia óptica congênita, espasticidade, polineuropatia periférica axonal sensitivo-motora, sobressaltos à estimulação sonora, deformidades articulares e da coluna e disartria. Estes resultados foram publicados em 2005 no Ann Neurol. 57(5):730-7. Dando continuidade ao estudo, selecionamos 23 genes que tiveram todos os exons seqüenciados. Nenhuma mutação foi observada. Amostras de 65 afetados e seus parentes foram estudados para seis marcadores de microsatélite, totalizando 149 indivíduos genotipados. Cinqüenta SNPs foram investigados, o que nos permitiu reduzir a região candidata de 4.8 para 2.3Mb em 11q13, entre o SNP rs1939212 e o microssatélite D11S987. Para o marcador D11S1889, com alelos em homozigose para todo os pacientes, foi obtido um lod score máximo de 27 em .=0.0. Os resultados deste estudo se encontram em fase de submissão. A segunda família foi estudada pela equipe da Dra. Mayana Zatz há alguns anos. Nela, investigamos 12 indivíduos afetados e 12 normais. Dentre estes, sete, com idades entre 30 e 60 anos, foram clinicamente avaliados. A idade de início foi a partir da terceira década de vida, sendo a paraplegia espástica o único sintoma. Para o marcador DXS8057 localizado em Xq25 foi obtido um lod score máximo de 4.13 em .=0.0. Com o estudo de marcadores moleculares, delimitamos uma região candidata entre os marcadores DXS1001 e DXS8033, de cerca de 14Mb, e demonstramos a existência de um novo loco gênico no cromossomo X, por nós denominado SPG34. Os resultados deste estudo estão publicados no Neurogenet on line em 08/05/200
We studied two large families with expressions of neurodegenerative diseases. One is from the high west of the state of Rio Grande do Norte and the other from São José do Rio Preto region, in São Paulo. The first, an extended family with a tradition of consanguineous marriages, has 68 individuals affected by the syndrome named by us Spoan (Spastic Paraplegia, Optic Atrophy, Neuropathy). The Spoan syndrome is a neurodegenerative disease, autosomal recessive, characterized by congenital Optic Atrophy, spasticity, axonal polyNeuropathy peripheral sensory-motor, shocks to the sound stimuli, joint and spine deformities, and dysarthria. These results were published in 2005 in Ann Neurol. 57 (5):730-7. Latter we analyzed 23 genes that were entirely sequenced. No mutation was observed. Samples of 65 affected and their relatives were studied for six microsatellite markers, totaling 149 individuals genotiped. Fifty single nucleotide polymorphisms (SNPs), located in the critical region, were also investigated, which allowed us to reduce the region for the SPOAN gene from 4.8 to 2.3 Mb, between the SNP rs1939212 and microsatellite D11S987 in 11q13. All patients are homozygous only at D11S1889, which two-point lod score with a Zmax of 27 at .=0.0 was obtained. The results of this study are being submitted. The second family was studied by Dr. Mayana Zatz group a few years ago. We investigated 12 affected and 12 normal relatives. Among these, seven patients, aged between 30 and 60 years, were clinically evaluated. The age of onset was from the third decade of life and disease showed behaviour very uniform, all affected showed Spastic Paraplegia as the only symptom. For the marker DXS8057, in Xq25, was obtained a maximum lod score of 4.13 at .=0.0. The candidate region was maped between the markers DXS1001 and DXS8033, about 14Mb and demonstrate the existence of a new gene locus on chromosome X, named by us SPG34. The results of this study were published in Neurogenet on line on may.08.2008.

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Berry, Helen Russell. "Characterisation of cardiorespiratory responses to electrically stimulated cycle training in paraplegia." Thesis, Connect to e-thesis. Edited version, 2008. http://theses.gla.ac.uk/386/.

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Thesis (Ph.D.) - University of Glasgow, 2008.
PhD. theses submitted to the Department of Mechanical Engineering, Faculty of Engineering, University of Glasgow. Edited version of thesis available, uncleared 3rd party copyright material removed. Includes bibliographical references. Print version also available.

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MANCUSO, GIUSEPPE. "Dissecting the pathogenesis of hereditary spastic paraplegia linked to SPG4 and SPG7 genes." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2011. http://hdl.handle.net/10281/20207.

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The aim of this thesis is to analyze and characterize the function of two genes involved in Hereditary Spastic Paraplegia, SPG4 and SPG7, to dissect their role in the pathogenesis of the disease. SPG4 encodes for Spastin, a microtubule severing protein involved in cytoskeletal dynamics and subcellular trafficking. On the other hand, SPG7 encodes for Paraplegin, a subunit of the m-AAA protease complex. This protease plays a key role in inner membrane protein quality control and in specific substrate maturation. Studying two genes with different function can shed light on common pathogenetic mechanisms in an etiologically complex disease such as Hereditary Spastic Paraplegia.

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Mungovan, Sean F., and n/a. "The Effect of Elevation and Venous Occlusion Pressure on Cardiovascular Function in Physically Active Men Who Are Paraplegic." Griffith University. School of Physiotherapy and Exercise Science, 2004. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040917.084824.

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The purpose of the present investigation was to: 1) Determine the relationship between cardiac output (estimated using the acetylene rebreathing methodology) and oxygen consumption in a homogeneous group of men who are paraplegic. 2) Investigate whether lower limb elevation increases stroke volume and decreases heart rate at rest and during submaximal arm exercise. 3) Investigate whether the application of constant circumferential pneumatic pressure applied to dependent lower limbs increases stroke volume and decreases heart rate at rest and during submaximal arm exercise.

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Mungovan, Sean F. "The Effect of Elevation and Venous Occlusion Pressure on Cardiovascular Function in Physically Active Men Who Are Paraplegic." Thesis, Griffith University, 2004. http://hdl.handle.net/10072/365190.

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The purpose of the present investigation was to: 1) Determine the relationship between cardiac output (estimated using the acetylene rebreathing methodology) and oxygen consumption in a homogeneous group of men who are paraplegic. 2) Investigate whether lower limb elevation increases stroke volume and decreases heart rate at rest and during submaximal arm exercise. 3) Investigate whether the application of constant circumferential pneumatic pressure applied to dependent lower limbs increases stroke volume and decreases heart rate at rest and during submaximal arm exercise.
Thesis (Masters)
Master of Philosophy (MPhil)
School of Physiotherapy and Exercise Science
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Oteyza, Andrés de [Verfasser], and Ludger [Akademischer Betreuer] Schöls. "Gene identification in Hereditary Spastic Paraplegias and characterization of Spastic Paraplegia type 58 (SPG58) / Andrés de Oteyza ; Betreuer: Ludger Schöls." Tübingen : Universitätsbibliothek Tübingen, 2016. http://d-nb.info/1165236532/34.

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Silva, Gelson Aguiar da. "Funcional independence of individuals With paraplegia in a rehabilitation program: results and associated factors." Universidade Federal do CearÃ, 2006. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=389.

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CoordenaÃÃo de AperfeiÃoamento de Pessoal de NÃvel Superior
Spinal cord injury can convey constraints to individuals, but a rehabilitation program which evalueates the functional gain allows outpatient care during the rehabilitation process. The aim of the present research was to evaluate results obtained trough the administration of Functional Independence Measure (FIM scale) in paraplegic petients within rehabilitation programs, by connecting such results with the variables: age, gender, time, level and etiology of the lesion, classification of lesion according to the ASIA (American Spinal Injury Association) criterion, time of hosptalization, educational status and complications (pressure sores, heterotopic ossofication, spasticity and neuropathic pain). For such, a transversal quantitative retrospective descriptive study was proceeded by analyzing medical records and the scoresobtained with FIM scale. The investigations were done using spedific tests, through the SPOSS software (statistical Package for the Social Science), version 13 for Windws. Results demonstrated that among the variables there studied variables there is a direct correlation between age, time of lesion, motor level, time of hospitalization and hospitalization wich a companion and the independence gain (P< 0.05). Besides there is an inverse relation between the lession classification (AIS A, B, C, D, or E) and the functional gain (P< 0.05). Functional evaluation of people with spinal cord injury though MIF scale allows to fallow up functional gain in people within a rehabilitation program.
A lesÃo medular pode trazer limitaÃÃes ao indivÃduo, mas um programa de reabilitaÃÃo que avalie o ganho funcional permite o acompanhamento, ao longo do decurso de reabilitaÃÃo. O objetivo desta pesquisa foi avaliar os resultados obtidos com a aplicaÃÃo da Medida de IndependÃncia Funcional (MIF) em pessoas portadoras de paraplegia em programa de reabilitaÃÃo; associando tais achados com as variÃveis: idade, sexo, tempo, nÃvel e etiologia da lesÃo, classificaÃÃo da lesÃo segundo o critÃrio da ASIA (American Spinal Injury Association), tempo de hospitalizaÃÃo, escolaridade e complicaÃÃes (Ãlcera de pressÃo, ossificaÃÃo heterotÃpica, espasticidade e dor neuropÃtica). Para isso foi realizado um estudo quantitativo transversal, de natureza retrospectiva, de carÃter descritivo, com anÃlise de 228 prontuÃrios e da pontuaÃÃo obtida mediante a Escala MIF. As anÃlises foram feitas sob testes especÃficos com auxÃlio do software SPSS (Statistical Package for the Social Science), versÃo 13 para Windows. Os resultados mostraram que, dentre as variÃveis estudadas, hÃ uma relaÃÃo direta entre a idade, o tempo de lesÃo, nÃvel motor, tempo de internaÃÃo e a internaÃÃo com acompanhante e o ganho de independÃncia (p< 0,05). TambÃm hÃ uma relaÃÃo inversa entre a classificaÃÃo da lesÃo (AIS A, B, C, D ou E) e o ganho funcional (p< 0,05). A avaliaÃÃo funcional em pessoas portadoras de lesÃo medular, por meio da Escala de Medida de IndependÃncia Funcional, permite o acompanhamento do ganho funcional em pessoas submetidas a um programa de reabilitaÃÃo.

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Porto, Isabela dos Passos. "Esporte e sexualidade em homens com paraplegia adquirida." Universidade do Estado de Santa Catarina, 2015. http://tede.udesc.br/handle/handle/311.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
This study aimed to investigate the factors associated with sexual adjustment paraplegic men controlling the physical variables (functional independence) and psychological (estimated body and sexual and resilience), and even compare the sexual adjustment, estimates physical and sexual, sexual behavior and sexual function between practitioners men and not sport practitioners. It is a quantitative and analytical nature of research. Participated in the study, 60 men with paraplegia, 30 sports practitioners and 30 non-sports practitioners. To obtain the necessary data, we used a questionnaire with information about sociodemographic questions (age, education, injury time); questionnaire of physical and sexual esteem, resilience questionnaire; male sexual function questionnaire (SQ-M); Functional Independence Measure Questionnaire (MIF), semistructured questionnaire about sexual frequency, sexual desire and satisfaction, self perception of physical and psychological adjustment and sexual behavior. The data were analyzed through the use the Statistical Package program for Social Sciences (SPSS) version 20.0. The form of presentation of data consisted of descriptive statistics (absolute and relative frequencies, mean, median, standard deviation) and inferential (chi-square test, U of Mann Whitney test, of Spearman correlation test and analysis of multiple linear regression. ). It was adopted the p value <0.05. The average age of study participants was 34.8 years (SD = 8.5). It was observed that the sexual adjustment was significantly higher among the sport practitioner group (p = .001) as well as the variables of body esteem and sex (p = .002), resilience (p = .026) Functional Independence Measure (p = .014); QS-M scores (p = 0.001). With regard to sexual practices (vaginal, p = .001, anal sex, p = .001) frequency (p = .001) desire (p = .001) and sexual satisfaction (p = .001), also values were obtained higher among sports practitioners. The same result was found in the variables related to erection (p = .001) and orgasm (p = .009). There was a correlation between sex fit with the time of injury (r = 305, p <.005), resilience (r = .541, p <.005), body and sex estimates (r = .633, p <. 005), education (r = .254, p <.005) and functional Independence Measure (r = .322, p <.005). We note that the score of the body and sexual esteem questionnaire was positively correlated with the time of injury (r = .292, p <.005) vaginal sexual practice (r = .490, p <.005) sexual frequency (r =. 429, p <.005), sexual satisfaction (r = .528, p <.005), erection (r = .382, p <.005), ejaculation (r = .477, p <.005), orgasm (r = .492, p <.005), QS-M score (r = .627, p <.005). Sexual satisfaction was correlated with sexual modalities (vaginal sex r = .523, p <.005; anal sex r = .279, p <.005), sexual frequency (r = .602, p <.005), desire sexual (r = .477, p <.005), erection (r = .323, p <.005), ejaculation (r = .279, p <.005), orgasm (r = .306, p <.005 ) and QS-M score (r = .528, p <.005) sexual desire correlated with oral sex (r = .410, p <.005), and QS-M score (r = .292 p <.005). Multiple linear regression analysis showed the variables that were associated with sexual adjustment were resilience (p = .003), body esteem and sex (p = .001) and the sports practice (p = .002). The sports practice was the best predictor of sexual adjustment (R2 = .508).
Este estudo objetivou investigar os fatores associados ao ajuste sexual de homens paraplégico controlando as variáveis físicas (independência funcional) e psicológicas (estima corporal e sexual e resiliência), e ainda comparar o ajuste sexual, estima corporal e sexual, comportamento sexual e função sexual entre os homens praticantes e não praticantes de esporte. Trata-se de uma pesquisa de natureza quantitativa e analítica. Participaram do estudo, 60 homens com paraplegia, sendo 30 praticantes de esporte e 30 não praticantes de esporte. Para a obtenção dos dados necessários, utilizou-se um questionário contendo informações acerca das questões sociodemográficas (idade, escolaridade, tempo de lesão); questionário de estima corporal e sexual, questionário de resiliência; questionário de função sexual masculino (QS-M); questionário de medida de independência funcional (MIF), questionário semiestruturado sobre frequência sexual, desejo e satisfação sexual, auto percepção de ajuste físico e psicológico e comportamento sexual. Os dados foram analisados mediante o uso do programa Statistical Package for the Social Sciences (SPSS) versão 20.0. A forma de apresentação dos dados consistiu em estatística descritiva (frequências absolutas e relativas, média, mediana, desvio padrão) e inferencial (teste de qui-quadrado, teste U de Mann Whitney, teste de correlação de Spearman e análise de regressão linear múltipla.). Foi adotado o valor de p<0,05. A média de idade dos participantes deste estudo foi de 34,8 anos (dp=8,5). Observou-se que o ajuste sexual foi significativamente maior entre o grupo praticante de esporte (p=.001) assim como as variáveis de estima corporal e sexual (p=.002), resiliência (p=.026) medida de independência funcional (p=.014); escore QS-M (p=0,001). Com relação às práticas sexuais (sexo vaginal, p=.001; sexo anal, p=.001) frequência (p=.001) desejo (p=.001) e satisfação sexual (p=.001), também foram obtidos valores maiores entre os praticantes de esporte. O mesmo resultado foi encontrado nas variáveis referente à ereção (p=.001) e orgasmo (p=.009). Observou-se correlações entre o ajuste sexual com o tempo de lesão (r=305, p<.005), resiliência (r=.541, p<.005), estima corporal e sexual (r=.633, p<.005), escolaridade (r=.254, p<.005) e medida de independência funcional (r=.322, p<.005). Observamos que o escore do questionário de estima corporal e sexual se correlacionou positivamente com o tempo de lesão (r=.292, p<.005) prática sexual vaginal (r=.490, p<.005) frequência sexual (r=.429, p<.005), satisfação sexual (r=.528, p<.005), ereção (r=.382, p<.005), ejaculação (r=.477, p<.005), orgasmo (r=.492, p<.005), escore QS-M (r=.627, p<.005). A satisfação sexual se correlacionou com as modalidades sexuais (sexo vaginal r=.523, p<.005; sexo anal r=.279, p<.005), frequência sexual (r=.602, p<.005), desejo sexual (r=.477, p<.005), ereção (r=.323, p<.005), ejaculação (r=.279, p<.005), orgasmo (r=.306, p<.005) e escore QS-M (r=.528, p<.005) O desejo sexual se correlacionou com a prática de sexo oral (r=.410, p<.005), e escore QS-M (r=.292, p<.005). A análise de regressão linear múltipla apresentou as variáveis que estiveram associadas com o ajuste sexual foram a resiliência (p=.003) , estima corporal e sexual (p=.001) e a prática de esporte (p=.002). A prática de esporte foi o melhor preditor do ajuste sexual (R2=.508). Conclui-se que a prática de esporte influenciou no ajuste sexual, estimas corporal e sexual, função e comportamento sexual de homens com paraplegia adquirida.

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Parodi, Livia. "Identification of genetic modifiers in Hereditary Spastic Paraplegias due to SPAST/SPG4 mutations Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex Hereditary spastic paraplegia: More than an upper motor neuron disease." Thesis, Sorbonne université, 2019. http://www.theses.fr/2019SORUS317.

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Les Paraplégies Spastiques Héréditaires (PSHs) sont un groupe de maladies neurodégénératives rares qui surviennent suite à la dégénérescence progressive des voies corticospinales, entraînant une spasticité des membres inférieurs, signe distinctif de la pathologie. Elles se caractérisent par une extrême hétérogénéité qui concerne à la fois les facteurs génétiques et cliniques, ainsi que d’autres aspects de la maladie, tels que l’âge d’apparition et la sévérité des signes. Cette variabilité est typiquement observée chez les patients porteurs de mutations pathogènes dans SPAST, le gène le plus fréquemment muté dans les PSHs. Après avoir réuni une cohorte de 842 patients mutés dans SPAST, nous avons utilisé une combinaison de différentes approches de Séquençage de Nouvelle Génération (NGS) afin de mieux comprendre les causes de l’hétérogénéité observée chez les patients, afin d’identifier des facteurs génétiques responsables de variations de l’âge au début de la maladie. Les données résultantes du génotypage de l’ensemble du génome ont ainsi été utilisées pour effectuer des analyses d’association et de liaison qui, combinées aux données de séquençage de l’ARN, ont permis d’identifier différents variantes/gènes candidats, potentiellement impliqués comme facteurs modificateurs de l’âge de début des SPAST-PSHs
Hereditary Spastic Paraplegias (HSPs) are a group of rare, inherited, neurodegenerative disorders that arise following the progressive degeneration of the corticospinal tracts, leading to lower limbs spasticity, the disorder hallmark. HSPs are characterized by an extreme heterogeneity that encompasses both genetic and clinical features, extending to additional disorder’s features, such as age of onset and severity. This phenotypic variability is typically observed among HSP patients carrying pathogenic mutations in SPAST, the most frequently mutated HSP causative gene. After assembling a cohort of 842 SPAST-HSP patients, a combination of different Next Generation Sequencing approaches was used to dig deeper into the causes of the observed heterogeneity, especially focusing on the identification of age of onset genetic modifiers. Sequencing data resulting from Whole Genome Genotyping were used to perform both association and linkage analysis that, combined with RNA sequencing expression data, allowed to identify different candidate variants/genes, potentially acting as SPAST-HSP age of onset modifiers

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Azevedo, Eliza Regina Ferreira Braga Machado de. "Análise cinética e cinemática da marcha de indivíduos paraplégicos com e sem órtese de pé e tornozelo (AFO)." [s.n.], 2011. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313761.

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Orientador: Alberto Cliquet Júnior
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: A lesão medular tem como consequência a perda da mobilidade e sensibilidade abaixo do nível da lesão, gerando, portanto, a impossibilidade de andar. Essa perda de movimentos traz inúmeras consequências aos pacientes lesados medulares como osteoporose, atrofia muscular, espasticidade, infecções urinárias de repetição entre outras. E muitas destas consequências podem ser minimizadas com o treinamento de marcha realizado com a utilização de estimulação elétrica neuromuscular (EENM). Dessa forma, o objetivo da pesquisa foi descrever a marcha de paraplégicos completos utilizando EENM e avaliar os efeitos da ankle foot orthoses (AFO) do tipo rígida na marcha destes indivíduos. Dezesseis indivíduos, sendo dez participantes controle e seis paraplégicos completos realizaram avaliação cinética e cinemática da marcha com e sem AFO. Ambos os grupos realizaram as avaliações em duas etapas: com AFO e sem AFO. Sendo que o grupo de pacientes realizou a marcha sempre utilizando EENM nos músculos quadríceps e no nervo fibular. Foi utilizado sempre o mesmo calcado durante os testes. Foram utilizados como parâmetros espaço-temporais a velocidade média (m/s), a cadência (passos/min), o comprimento de passo (m) e a porcentagem da fase de apoio. Todas as variáveis apresentaram diferenças significativas entre grupos e uso ou não da AFO, com exceção da porcentagem da fase de apoio, que apenas apresentou diferença entre os grupos (p<0,001). Entre as variáveis cinemáticas do tornozelo no contato inicial houve diferença entre os grupos (p=0,026), na amplitude de movimento (ADM) no apoio a diferença foi significativa no uso ou não da AFO (p=0,01), entre grupos (p=0,02) e na interação entre os grupos e o uso ou não da AFO (p=0,008), e na ADM no balanço a diferença ocorreu entre o uso e não da AFO (p=0,002) e na interação entre grupos e uso ou não da AFO (p=0,007). As variáveis do joelho que apresentarão valores significativos entre o uso ou não da AFO foram o ângulo no contato inicial (p=0,002), a ADM no apoio (p=0,0001) e a flexão no impulso (p=0,018), entre os grupos a flexão no impulso (p<0,0001) e a máxima flexão no balanço (p<0,001) apresentaram valores significativos. No quadril as diferenças significativas ocorreram apenas entre os grupos para o contato inicial (p<0,0001), máxima extensão no apoio (p=0,002), a extensão no impulso (p=0,005) e a máxima flexão no balanço (p=0,001). Nas variáveis cinéticas do tornozelo foram avaliados o momento no choque de calcanhar e momento máximo flexor plantar, ambos apresentaram valores significativos entre grupos (p=0,012 e p=0,014) e apenas o momento no choque de calcanhar apresentou diferença entre o uso ou não da AFO (p=0,015). No joelho e quadril foram avaliados os momentos máximos flexor e extensor. Sendo que no joelho apenas o máximo momento extensor apresentou diferença entre os grupos (p=0,0002). No quadril os valores de momento flexor máximo foram significativos entre grupos (p<0,0001). Os resultados espaço-temporais sugerem que a marcha com AFO é mais eficaz para os paraplégicos completos. Além disso, a AFO promoveu uma maior proteção ao joelho do desses indivíduos e permitiu uma maior descarga mecânica no quadril podendo assim, prevenir a perda de massa óssea
Abstract: The spinal cord injury leads to the loss of mobility and sensibility below the injury level, causing the inability to walk. This loss of movement causes consequences for spinal cord injured patients such as osteoporosis, muscle atrophy, spasticity, repetitive urinary infections and others. Many of these consequences can be minimized by gait training with neuromuscular electrical stimulation (NMES). Thus, the objective of the research was to describe paraplegic gait with NMES and assess the influence of rigid AFO on these individuals gait. Sixteen individuals, ten control participants and six complete paraplegics went through kinetics and kinematics gait evaluation with and without AFO. The patients group performed the gait using NMES in quadriceps muscles and peroneal nerve. Both groups used the same shoes during the tests. Spatiotemporal variables assessed were velocity (m/s), cadence (steps per minute), step length (m) and percentage of stance time. All variables except for the percentage of stance time showed significant differences between groups and with and without AFO. In ankle joint kinematics, the initial contact was different between groups (p=0,026), range of motion (ROM) in stance was significant difference with and without AFO (p=0,01), between groups (p=0,02) and in the interaction between groups and with and without AFO (p=0,008), ROM in balance was different between with and without AFO (p=0,002) and in the interaction between groups and with and without AFO (p=0,007). The knee kinematics displayed significant changes between with and without AFO in initial contact (p=0,002), ROM in stance (p=0,0001) and flexion at toe-off (p=0,018), between groups difference was noted in flexion at toe-off (p<0,0001) and maximum flexion in balance (p<0,0001). The hip significant differences were only observed between groups in initial contact (p<0,0001), maximum extension in balance (p=0,002), extension at toe-off (p=0,005) and in maximum flexion in balance (p=0,001). Ankle joint kinetic variables assessed were the moment at load response and maximum plantar flexor moment, both displayed significant changes between groups (p=0,012 and p=0,014), only the moment at load response was different between with and without AFO (p=0,015). Knee and hip were assessed maximum flexor and extensor moments. Only the maximum knee extensor moment was significant different between groups (p=0,0002). Hip flexor moment values were significant between groups (p<0,0001). The spatiotemporal results suggest that the gait with AFO is more effective for complete paraplegics individuals. Furthermore, the AFO allowed a greater knee protection to these individuals and also yielded a higher mechanical loading on the hip, which can prevent the loss bone mass
Mestrado
Fisiopatologia Cirúrgica
Mestre em Ciências

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Vanoncini, Michele. "Improving sitting posture in paraplegia via functional electrical stimulation." Thesis, University of Reading, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.494804.

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This study is an experimental investigation on the application of Functional Electrical Stimulation (FES) to the trunk muscles in paraplegic subjects. The aim is to improve trunk balance during reaching/grasping activities, and to explore a potential use of FES for the prevention of pressure sores. The research comprises three parts: the development of a model of the human trunk, the synthesis of closed loop controllers for the stimulation, and the use of FES for pressure sore prevention. Biomechanical models of the trunk, available from previous studies, are not appropriate for the synthesis of FES controllers. They are difficult to identify due to the high number of prameters, and hence cannot be taken into account the daily variations of the muscle response to the stimulation. This study proposes a novel approach, based on a simple model, which can be identified prior to any stimulation session. The investigation on automatic control of FES aims at trunk stabilisation and rejection of disturbances. Two regulators are considered: a Proportional Integral Derivative (PID) and a Linear Quadratic Regulator (LQR). The results show that a development by trial and error of a PID controller is feasible, and hence should be considered in practical applications. The study also shows that the simple model previously developed and be employed in the synthesis of an LQR controller. Finally, the study considers the stimulation of the trunk extensors as a tool for pressure sore prevention. This is a novel FES application, potentially more practical than the stimulation of the gluteal or quadriceps muscles, proposed by other authors. The experimental study described in this thesis shows that the stimulation of the trunk extensors can be used to induce a periodic change of the pressure distribution on the buttocks, and hence can potentially be employed as a tool for prevention.

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Tsang, Hiu Tung Hilda. "The molecular pathology of NIPA1 associated hereditary spastic paraplegia." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611474.

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13

McNamee, J. "Investigating the molecular mechanisms of Hereditary Spastic Paraplegia neuropathies." Thesis, University of Liverpool, 2018. http://livrepository.liverpool.ac.uk/3019569/.

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Hereditary spastic paraplegia (HSP) was first described in the late 1800s and has since become a term used to describe this relatively large, clinically and genetically diverse group of inherited neurodegenerative or neurodevelopmental disorders. HSPs are characterised by progressive lower limb spasticity and pyramidal weakness, caused by genetic mutations. This defining clinical feature is thought to be due to the progressive, length-dependent neuronal degeneration or axonopathy, which predominantly involves the lateral corticospinal tracts. Although unified by their defining clinical feature, HSPs are some of the most genetically diverse diseases. To date, 78 spastic gait disease-loci (SPG1-78) and 61 corresponding spastic paraplegia genes have been identified, and these are likely to increase further still. A critical step towards unravelling the complex molecular relationships in living systems is the mapping of protein-protein interactions. Proteins with similar functions and cellular localisations tend to cluster together within these networks, with the majority sharing at least one function. Proteins that interact with known disease-causing HSP proteins may in some cases also acquire mutations that contribute to specific HSP-related phenotypes. Therefore, identification of proteins that interact with known HSP proteins, or exist in common molecular complexes, may provide new insight into the molecular mechanisms fundamental to the pathogenesis of this group of disorders. The sequence-verified HSP ORFs generated were used to construct a collection of Y2H HSP bait and prey clones. The ‘traditional’ yeast two-hybrid system was then used to test a number of predicted binary interactions, using high-throughput targeted assays, whilst novel HSP interaction partners were identified using high-throughput library screens. Membrane-associated proteins are one of the most biologically important protein classes, with key roles in various cellular processes including cell signalling, molecular transport, metabolism and cell structure maintenance. However, detection of protein-protein interactions (PPIs) of membrane proteins is challenging, due to their hydrophobic nature and non-nuclear localisation, making them difficult to analyse using conventional interaction detection methods. As there is a significant number of membrane-associated HSP proteins, sequence-verified HSP ORFs were used to generate a collection of membrane yeast two-hybrid (MYTH) HSP bait clones. The MYTH system was used to investigate potentially novel interaction profiles for each of the membrane-associated HSP bait constructs, using the optimised high-throughput MYTH library screen approach. In total, 365 novel binary HSP interactions were identified in this study, increasing the complexity of the HSP interactome. This high-density, comprehensive HSP interactome can be used to inform future hypothesis-driven research, looking at the physiological mechanisms and functional relevance of these interactions, providing a greater understanding of the pathogenic mechanisms of HSP, as well as for the development of new strategies for therapeutic intervention.

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Santos, Leila Conceição Rosa dos. "Re dimensionando limitações e possibilidades: a trajetória da pessoa com lesão medular traumática." Universidade de São Paulo, 2000. http://www.teses.usp.br/teses/disponiveis/7/7136/tde-02082007-112821/.

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O estudo foi realizado com pessoas do sexo masculino e que viveram a experiência de sofrer um trauma que acarretou a lesão da medula espinal. Teve como objetivos: - compreender os significados que a pessoa atribui a sua experiência de ser lesado medular; - compreender a maneira como a dimensão atribuída ao significado de ser lesado medular se manifesta nas ações da pessoa; - desenvolver um modelo teórico representativo da experiência da pessoa que sofreu uma lesão traumática na medula espinal. Utilizou-se como referencial teórico o Interacionismo Simbólico e como referencial metodológico, a Teoria Fundamentada nos Dados. A estratégia para a obtenção dos dados foi a entrevista. Dos resultados emergiram dois fenômenos - Sobrevivendo ao Acidente e Vivendo uma Nova Realidade. Destes, identificou-se a categoria central - Re dimensionando limitações e possibilidades. A compreensão da experiência da pessoa que adquire uma lesão da medula espinal possibilitou reconhecer como as vivências, que ocorrem após a constatação da deficiência física, são percebidas por esses indivíduos, e como redimensionam os significados que vão atribuindo às situações diferentes que passam a vivenciar. O modelo teórico mostra que a experiência de ter se tornado um paraplégico ou um tetraplégico, é permeada pela vivência de limitações, e dependências, sentimentos e reações que vão sendo dimensionados e redimensionados à medida que vai re elaborando significados e valores, e desenvolvendo ações que lhe apontam possibilidades, as quais toma posse mediante as escolhas que faz para dar continuidade ou sentido à vida preservada, porém modificada
A study conducted with adult males who had undergone the experience of suffering trauma causing spinal cord injury (SCI). The aim was to: - understand the meaning patients gave to their experience of being an SCI bearer; - understand how the dimensions attributed to being a SCI bearer manifested itself in the person\'s behavior; - develop a theoretical model representative of the experience of the person who suffered SCI. The study used as a theoretical reference Symbolic Interactionism and used the Grounded Theory methodology. Data was collected through interviews. Two phenomena emerged from the findings: \"Surviving the Accident\" and \"Living a New Reality\". Of these the central category was identified as Re defining limits and possibilities. Understanding of the experience of SCI bearers made it possible to recognize how the events that occurred after the diagnosis of the physical deficiency is perceived by the persons and how they redefine the meaning attributed to the different situations they came to experience after suffering the acquired physical deficiency. The theoretical model reveals that the experience of having become a paraplegic or tetraplegic involved a lot of coping with limitations and dependency, emotions and reactions that go on being defined and redefined as the individual restructured values and developed actions that led to possibilities of overcoming, which were adopted through the choices made, so as to give continuity of meaning to the life that remained, although in its modified state

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Medina, Giovanna Ignácio Subirá 1981. "Avaliação clínica e radiográfica do ombro de pacientes lesados medulares em programa de reabilitação." [s.n.], 2011. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313750.

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Orientador: Alberto Cliquet Junior
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: A lesão da medula espinhal é uma afecção incapacitante e que é acompanhada de inúmeras complicações diretas e indiretas. No Brasil, ocorrem cerca de 6 a 8 mil novos casos por ano de LME e, desde o momento do trauma, os pacientes lesados medulares necessitam de cuidados direcionados que devem persistir mesmo após passados anos da lesão. A dor no ombro é o processo doloroso mais comum entre os pacientes com lesão medular que se queixam de dor nos membros superiores perfazendo 71% do total. Este é um estudo clínico e radiográfico que avaliou o ombro de pacientes tetraplégicos e paraplégicos que estavam em programa de reabilitação no Laboratório de Biomecânica e Reabilitação do Aparelho locomotor do Hospital das Clínicas da Faculdade de Ciências Médicas da Universidade Estadual de Campinas (UNICAMP). Os objetivos foram estabelecer a utilidade da radiografia como exame de triagem para dor no ombro de pacientes lesados medulares. Trinta e dois ombros de 16 pacientes foram avaliados clinica e radiograficamente. Os pacientes foram divididos em 2 grupos: paraplégicos e tetraplégicos. Um grupo controle de 16 indivíduos normais, voluntários, foi selecionado. Dor no ombro foi encontrada em 89% dos tetraplégicos e em 43% dos paraplégicos. O tempo desde a lesão variou de 1.5-22 anos (média 7.88 anos); a média de idade dos pacientes foi de 35 anos (variou de 21-57 anos). A medida da articulação acromioclavicular variou de 0.03-0.7cm para o lado direito e 0.15-0.7cm para o lado esquerdo, com média de 0.37cm e 0.41cm respectivamente. Não foi encontrada correlação alguma entre dor no ombro e sexo, idade ou tempo da lesão. Houve uma tendência a correlação entre dor no ombro e tipo de lesão, com tendência dos tetraplégicos em apresentar sintomas dolorosos. Na média, os tetraplégicos apresentaram menores medidas da articulação acromioclavicular. Com os dados deste estudo, não houve confirmação da hipótese de que achados radiográficos pudessem indicar risco de desenvolver dor no ombro em pacientes lesados medulares
Abstract: Spinal Cord injury is a very disabling condition that has many direct and indirect complications. In Brazil, there are around 6 to 8 thousand new cases each year and the patients need specific care from the moment of the lesion even through years after the SCI. Shoulder pain is the most common painful process among SCI patients that complaint of pain in the upper extremities, representing 71% of the total. This was a clinical and radiographic study which evaluated the shoulders of tetraplegic and paraplegic patients who attend the rehabilitation program of the Biomechanics and Locomotor-System Rehabilitation Laboratory of the University Hospital of the Faculty of Medical Sciences of the State University of Campinas (UNICAMP). The objective was to establish the usefulness of radiography as a screening exam for shoulder pain in spinal cord injured patients. Thirty two shoulders of sixteen patients were evaluated by clinical exam and radiography. Patients were divided into two groups: paraplegic and tetraplegic. A control group of 16 normal volunteer subjects was selected. Shoulder pain was reported in 89% of tetraplegic and 43% of paraplegic. The time of injury ranged from 1.5 - 22 years (mean 7.88 years); patients had a mean age of 35 years (range, 21-57 years). The acromioclavicular joint space ranged from 0.03-0.7cm on the right side and 0.15-0.7cm on the left side, with a mean of 0.37 and 0.41cm respectively. No correlation was found between shoulder pain and gender, age or time since injury. There was a trend to correlation between shoulder pain and type of injury with tetraplegic having a tendency to pain symptoms. On average, tetraplegic had smaller acromioclavicular joint. With this study we were not able to confirm the hypothesis that radiography could be used to predict risk factor for developing shoulder pain among SCI patients
Mestrado
Fisiopatologia Cirúrgica
Mestre em Ciências

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16

Cavaçana, Natale. "Estudo genético-molecular de pacientes discordantes de Paraplegia Espástica Hereditária do tipo 4." Universidade de São Paulo, 2014. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-06032015-093012/.

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As doenças neuromusculares incluem um grupo muito heterogêneo de patologias que atingem 1 em cada 1.000 indivíduos nascidos vivos. Dentre as doenças neuromusculares destacam-se as paraplegias espásticas hereditárias que acometem, aproximadamente, cerca de 1 em cada 10.000. As paraplegias espásticas hereditárias (PEH) são caracterizadas pela espasticidade e fraqueza muscular dos membros inferiores. São muito heterogêneas tanto em clínica como geneticamente. Diversas formas já foram descritas e a mais comum delas, acometendo por volta de 40% dos casos autossômicos dominantes, causada por mutações no gene SPAST (PEH do tipo 4 ou SPG4). Estudos de correlação genótipo: fenótipo têm mostrado que indivíduos da mesma família carregando a mesma mutação patogênica, podem ter quadro clínico muito distinto. A explicação para esta questão pode estar na procura por genes modificadores, no padrão de expressão, na análise proteômica (seja por ligantes a proteínas ou no dobramento das mesmas), ou em mecanismos epigenéticos. Além disso, em algumas formas observa-se uma diferença na porcentagem de pessoas afetadas de acordo com o sexo. Essa desproporção foi observada numa grande família de com PEH na qual existe um predomínio de afetados do sexo masculino. O objetivo do presente trabalho foi a análise de pacientes discordantes, ou seja, que possuam a mesma mutação, porém com quadro clínico discordante de uma grande família brasileira com SGP4. Para isso foi feito um estudo da abundância de transcritos (mRNA) e de genótipo (polimorfismos de base única) em relação a um fenótipo (sintomático ou assintomático). Os resultados sugerem que o principal sistema envolvido, que poderia explicar as diferenças entre os pacientes discordantes, é o sistema imune, com a principal atuação dos genes C2, HLA-DRB1 e LY6G6C. Esses genes podem ter papel protetor ou tóxico no desenvolvimento do quadro clínico dos pacientes analisados
The hereditary spastic paraplegia (HSP) is characterized by muscle weakness and lower limb spasticity. They are very heterogeneous both clinically and genetically. Several forms have been described and the most common one, affecting around 40% of autosomal dominant cases, is caused by mutations in the SPAST gene (HSP type 4 or SPG4). Genotype: phenotype correlation studies have shown that affected individuals from the same family, who carry the same pathogenic mutation, can have very distinct phenotypes. The underlying explanation behind this clinical heterogeneity may be found in the search for modifier genes, in expression patterns observed proteomic analyses (either by protein binding or folding), or epigenetic mechanisms. As is observed in other motor neurodisease, there is a disproportion between the number of affected males and females, with males being the predominantly affected. The objective of this study was to analyze discordant patients, i.e., those that possess the same mutation, but show discordant phenotypes, from a large Brazilian family with SGP4. For this study, the abundance of transcripts (mRNA) and genotype (single nucleotide polymorphisms) relative to a phenotype (symptomatic or asymptomatic) were analyzed. The results suggest that the main system involved, which could explain the differences between discordant patients, is the immune system, with the main activity of C2, LY6G6C and HLA-DRB1 genes. These genes may have a protective or toxic role in the development of the analyzed patients\' clinical features

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Wilkinson, P. "A clinical, genetic and biochemical study of hereditary spastic paraplegia." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1445184/.

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The hereditary spastic paraplegias (HSPs) represent a clinically and genetically heterogeneous group of neurological disorders. The phenotype is classified as pure or uncomplicated when the spastic paraparesis occurs in isolation and complicated when there are significant additional neurological or other clinical features. Inheritance may be autosomal dominant, autosomal recessive or X-linked. Twenty families from the UK were identified with autosomal recessive HSP. Clinical analysis of affected individuals demonstrated a variety of different phenotypes with a slight preponderance of complicated cases. Genetic linkage analysis in the largest of these families identified linkage to the previously described SPG5A locus with a maximum LOD score of 4.84. Marker saturation analysis subsequently refined the locus to a 23.6cM region on chromosome 8q. In 6 of the remaining families linkage to the SPG7 locus could not be excluded. An affected individual from each of these families and 29 sporadic HSP cases were subsequently screened for SPG7 gene mutations using a combination of SSCP and sequencing. Three sporadic patients were found to have compound heterozygous SPG7 mutations, five of which were novel and one that had been described previously. Muscle biopsies in two of the patients with SPG7 mutations failed to demonstrate histological evidence of oxidative phophorylation defects but did reveal mitochondrial respiratory chain complex I-III defects in muscle and complex I deficiency in cultured myoblasts. A similar combination of SSCP and sequencing was used to screen a group of 12 families with early onset autosomal dominant HSP for SPG3A gene mutations. Only the previously reported R239C mutation was identified in one family suggesting that SPG3A mutations are relatively uncommon in this population. Genome wide linkage analysis in a consanguineous Bedouin family from Kuwait with a complicated HSP phenotype including cognitive impairment, dysarthria and distal amyotrophy identified linkage to a 22.8cM interval on chromosome 12 with a maximum LOD score of 5.1. No coding sequence mutations were identied in the KIF5A gene, associated with pure autosomal dominant HSP, located within this region. This interval has therefore been proposed as a novel locus for complicated autosomal recessive HSP (SPG26).

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Davoodi, Rahman. "Modeling and control of FES assisted standing-up in paraplegia." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape8/PQDD_0005/NQ39521.pdf.

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Bingley, Megan. "Characterisation of Spastin function in relation to hereditary spastic paraplegia." Thesis, University of Sheffield, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.440916.

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Ulengin, Idil. "Atlastin Mediated Endoplasmic Reticulum Network Formation In Hereditary Spastic Paraplegia." Research Showcase @ CMU, 2015. http://repository.cmu.edu/dissertations/576.

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The endoplasmic reticulum is an extensive multifunctional membrane bound organelle present in all eukaryotic cells. It houses a wide array of essential processes including protein and lipid synthesis, drug detoxification and regulation of intracellular Ca+2 . This very large organelle is organized into morphologically distinct subdomains, presumably to maximize the efficiency of each of its many functions. Yet the ER is interconnected at hundreds of branchpoints. maintaining both luminal and membrane continuity. Despite its complex structure, the ER undergoes continuous membrane remodeling, which may enable it to adopt to environmental changes. Due to their extreme polarity and the long distances that need to be traversed by cellular constituents, neurons may rely more heavily than other cell types on the proper structure, function and dynamics of organelles such as the ER. In support of this idea, a number of neurological disorders are linked to mutations in genes whose products are proposed to structure the ER. In particular, mutations in the neuronal isoform of atlastin (ATL), a conserved dynamin-related GTPase implicated in homotypic ER membrane fusion and ER network formation, cause a motor neurological disorder called Hereditary Spastic Paraplegia (HSP). Determining the role of ATLs in ER morphology has obvious implications in the context of the neurodegeneration seen in Hereditary Spastic Paraplegia patients. To this end, in my thesis I worked on three projects. One focused on testing the hypothesis that disease mutations cause HSP because they disrupt neuronal ATL-1’s fusion-dependent ER structuring function. Using a cell-based assay for ATL-mediated ER network formation, I showed that neuronal ATL-1 can fully restore a branched ER network in HeLa cells depleted of endogenous ATL, and yet surprisingly, not all the disease mutations disrupt ER morphology. Furthermore, at least two disease variants, including that most commonly identified in patients, displayed wild type levels of activity in all assays, including a biochemical assay for membrane fusion. The second project tested the role of an N-terminal extension of ATL-1 that is highly conserved across vertebrate species. My results indicated that this extension was dispensable for ER structuring at least in non-neuronal cells. Therefore, the significant conservation observed within this region may reflect a regulatory role specific to neurons, an idea that remains to be tested. Lastly, I collaborated with James McNew and his group to investigate the precise role of the cytoplasmic C-terminal tail of ATL. Together we showed that the C-terminal tail is important for both the fusion and ER network formation functions of ATL. And yet in the context of less stable lipid bilayers, the requirement for the C-terminal tail during fusion was alleviated. Altogether, my findings reveal a discrepancy with the hypothesis that disease mutations disrupt ER morphology and highlight a gap in the understanding of the cause of ATL-1 linked SPG3A. The apparent lack of a requirement for a highly conserved N-terminal extension, as well as residues implicated in HSP, is surprising. It suggests that the ER in neurons might rely on a neuron specific factor that binds and regulates the fusion. Alternatively, ATL-1 may mediate an additional (non-ER fusion) function specific to neurons. Overall, my investigation reveals that there is more to be understood in terms of precise role (s) and regulation of ATL a well as the basis of SPG3A pathogenesis.

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ALVES, Silvia Rodrigues Cavalcanti. "Sentidos produzidos sobre a sexualidade por mulheres com paraplegia congênita." Universidade Federal de Pernambuco, 2014. https://repositorio.ufpe.br/handle/123456789/10928.

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As pessoas com deficiência e as mulheres compõem grupos minoritários que historicamente foram alvo de discriminação. Dessa forma, quando a questão das pessoas com deficiência é somado à questão do gênero, essas sofrem uma dupla marginalização devido aos preconceitos sexuais e pelas dificuldades causadas pela deficiência, que ainda carrega um estigma social que se reflete em vários âmbitos da vida e, logo, também no plano da sexualidade. Assim, as pessoas com deficiência tendem a ser consideradas como homogêneas assexuadas. A falta de informação acerca da sexualidade de tais pessoas alimenta a crença de que deficiência e sexualidade são incompatíveis, sendo forte a ideia de que a pessoa com deficiência não vivencia sua sexualidade, principalmente, quando essa deficiência é a paraplegia, por envolver os membros inferiores (onde se localiza os órgãos genitais). Entretanto, há muito que se desconstruir sobre tais concepções, primeiramente, porque a sexualidade não se resume ao ato sexual nem se localiza unicamente nos órgãos sexuais. Além disso, não há nenhuma evidência que relacione a paraplegia (ou qualquer outro tipo de deficiência) à falta de desejo sexual. Percebe-se que há uma escassez de estudos que abordem conjuntamente as questões do gênero e da sexualidade das pessoas com deficiência, assim, a presente pesquisa volta-se para a constituição da subjetividade de mulheres com paraplegia congênita no que se refere aos sentidos construídos por elas sobre a sexualidade. Segundo Bock, Furtado e Teixeira (1996), a subjetividade é o mundo das ideias e das significações construídas internamente pelo sujeito a partir de sua constituição biológica, suas relações sociais e suas vivências. É importante ressaltar que gênero e sexualidade serão entendidos como construções sociais, visto que através desses conceitos se definem regras de comportamento para os indivíduos. Ademais, a sexualidade será compreendida como forma de ser, sentir e viver, composta por sentimentos, ações e pensamentos, algo descentralizado dos órgãos genitais (Louro, 2003). Considerar outros aspectos na discussão sobre a deficiência proporciona novas compreensões para o estudo do problema. Assim, o presente estudo teve como objetivo principal: Apreender os sentidos produzidos sobre a sexualidade por mulheres com paraplegia congênita. Para tanto, definiu-se os seguintes objetivos específicos: (i) analisar o discurso de tais mulheres sobre a vivência da própria sexualidade; (ii) identificar como as relações de gênero revelam-se no discurso dessas mulheres sobre o sentido atribuído à própria sexualidade. A presente pesquisa utilizou a abordagem qualitativa e participaram 3 (três) mulheres com paraplegia congênita. Para a coleta de dados foi utilizada a técnica do depoimento pessoal e a análise dos dados procedeu-se a partir da proposta dos “núcleos de significação” sistematizado por Aguiar e Ozella (2006). Os resultados mostraram que as participantes não se enxergam como pessoas incapazes de manter relações amorosas e compreendem que a deficiência não representa um impedimento para a vivência da sexualidade. Apesar dos tabus de gênero ainda constituir os sentidos atribuídos à própria sexualidade, é possível perceber que as participantes se mostram no processo de ressignificação de tais concepções.

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Kennedy, Paul. "Psychological aspects of spinal cord injury : behavioural approaches, emotional impact and coping strategies." Thesis, University of Ulster, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.339313.

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Sakai, Denis Seguchi 1980. "Influência do nível de lesão torácico no alinhamento cervical no plano sagital = The influence of the thoracic level of spinal cord injured subjects in the sagittal alignment of the cervical spine." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313746.

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Orientador: Alberto Cliquet Junior
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: Introdução: O trauma raquimedular apresenta maior incidência em indivíduos do sexo masculino entre 15 e 40 anos de idade. A denervação da musculatura segmentar da coluna vertebral abaixo do nível da lesão medular altera a postura do tronco no plano sagital destes indivíduos. Adaptações posturais ocorrem na coluna cervical e podem predispor à degeneração precoce do disco intervertebral e/ou das articulações facetárias, resultando na formação de osteófitos nos corpos vertebrais, diminuição do calibre dos forâmens intervertebrais e do canal vertebral. O envelhecimento da coluna cervical (espondilose cervical) é um processo lento. Sua sintomatologia é imprevisível e ocorre após a 5a década de vida na população geral, podendo decorrer de compressões radiculares ou medulares. As compressões radiculares apresentam-se clinicamente como dores irradiadas nos membros superiores, diminuição da força muscular (paresia) e alterações da sensibilidade (parestesia). Já as compressões medulares (ou mielopatia cervical) levam à incoordenação dos movimentos finos nas mãos, alterações de marcha (claudicação), do equilíbrio e disfunções no controle esfincteriano vesical e anal. Os paraplégicos preservam as funções nos membros superiores e dependem exclusivamente destes para a realização das atividades diárias. As alterações mecânicas no plano sagital na coluna cervical de indivíduos paraplégicos poderiam, deste modo, desencadear precocemente o processo de envelhecimento da coluna cervical levando a sintomas compressivos radiculares e/ou medulares cervicais com uma importante perda de função para estes indivíduos. Objetivo: O objetivo primário deste estudo foi correlacionar o alinhamento da coluna cervical no plano sagital de indivíduos paraplégicos com o nível de lesão neurológica torácica. O objetivo secundário foi caracterizar e comparar as alterações degenerativas radiográficas em diferentes níveis de lesão medular torácica. viii Metodologia: Foi realizada a análise radiográfica da coluna cervical de 12 indivíduos paraplégicos torácicos (9 do sexo masculino e 3 do sexo feminino) com lesão medular há mais de 1 ano (média de 9,1 anos, de 4 a 15 anos). Os indivíduos foram divididos em 2 grupos: 6 apresentavam lesão medular abaixo de T9 e outros 6, acima ou em T8, de acordo com a classificação da American Spinal Injury Association (ASIA). A lordose global, mensurada de C2 a C7 e a lordose local, mensurada para cada nível cervical foram comparadas. Sinais radiográficos de degeneração cervical (diminuição da altura do disco intervertebral, formação de osteófitos e esclerose dos platôs vertebrais) também foram analisados utilizando o método de Gore et al., e os resultados foram comparados entre os grupos. Resultados: O grupo com lesão medular em T8 ou acima apresentou maiores medidas de lordose global (55o ± 5,7o vs 26,2o ± 3,8o, p<0,0001), especialmente nos segmentos C5-C6 (10,7o ± 5,9o vs 1o ± 3,1o, p=0,02) e C6-C7 (18o ± 3,5o vs 4,5o ± 3,6o, p<0,0001). Não foram encontradas diferenças quanto às alterações degenerativas radiográficas entre os grupos em C4-C5 (p=0,16), C5-C6 (p=0,06) e C6-C7 (p=0,31). Conclusão: Este estudo preliminar indica que o nível de lesão medular influencia o alinhamento cervical no plano sagital aumentando a lordose especialmente nos segmentos mais distais e nos indivíduos com lesão medular em T8 ou acima
Abstract: Introduction: Spinal cord injury occurs more frequently in males between 15 and 40 years old. The loss of innervation in the segmental musculature of the spine below the level of spinal cord injury modifies the posture of the trunk in these subjects. Consequently, adaptative postural changes occur in the cervical spine predisposing to early degeneration of the intervertebral disc and/or facet joints, osteophyte formation and narrowing of the spinal canal and foramina. The degeneration of the cervical spine, known as cervical spondylosis, is a slow process and its symptoms usually occur after the 5th decade of life, and may result in radicular and/or cord compressions. Radicular compressions may present as radiating pain to the upper extremities, diminished strength and abnormal sensation. Spinal cord compressions, on the other hand, may present as a loss of fine movements in the hands, abnormal gait, impaired balance and dysfunctions in the vesical and anal sphincters. Paraplegics depend on the upper extremities for everyday activities and the development of radicular and/or spinal cord compressive symptoms in these subjects can be devastating. Mechanical changes in the sagittal plane of the cervical spine of paraplegics might result in early degeneration of this segment and an increasing disability for everyday activities over time. Objective: The primary endpoint of this study was to analyse the differences in the cervical spine alignment in paraplegics according to their level of spinal cord injury. The secondary endpoint was to compare degenerative findings on conventional radiographs between two different groups of paraplegics. Participants/methods: Twelve paraplegics (9 males and 3 females) sustaining more than 1 year of injury (average 9,1, from 4 to 15 years) had their sagittal cervical spine x-rays analyzed. They were divided into 2 groups: 6 patients had injuries below T9 and another 6, at or above T8, according to the American Spinal Injury Association (ASIA) classification. The global lordosis, x measured from C2 to C7, and the local lordosis, measured for each level were compared between the groups. Radiographic cervical degeneration (loss of disc height, osteophytes formation and end-plate sclerosis) was also quantified using a previous method described by Gore et al. and compared between the groups. Results: Results indicate that paraplegics sustaining higher spinal cord injuries (at or above T8) have an increased global lordosis (55o ± 5,7o vs 26,2o ± 3,8o, p<0,0001) specially in the lower segments - C5-C6 (10,7o ± 5,9o vs 1o ± 3,1o, p=0,02) and C6-C7 (18o ± 3,5o vs 4,5o ± 3,6o, p<0,0001). No differences were found comparing the radiographic scores for cervical degeneration between the groups at C4-C5 (p=0,16), C5-C6 (p=0,06) and C6-C7 (p=0,31). Conclusion: This preliminary study indicates that the level of spinal cord injury influences the cervical sagittal alignment with an increase in lordosis specially in the lower segments and in subjects with spinal cord injury at or above T8
Mestrado
Fisiopatologia Cirúrgica
Mestre em Ciências

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Lau, En-Lieng. "Molecular analysis of the autosomal dominant spastic paraplegia type IV (SPG4)." [S.l.] : [s.n.], 2001. http://deposit.ddb.de/cgi-bin/dokserv?idn=962848255.

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Crosbie, W. John. "Biomechanical analysis of walking aid use in paraplegia and rheumatoid arthritis." Thesis, University of Strathclyde, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.304898.

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Errico, Alessia. "Functional characterization of spastin and its role in hereditary spastic paraplegia." Thesis, Open University, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.402841.

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Bueno, Marly Machado Bento. "O CORPO COM PARAPLEGIA E TETRAPLEGIA ADQUIRIDA: UM ESTUDO SOBRE SEXUALIDADE." Pontifícia Universidade Católica de Goiás, 2010. http://localhost:8080/tede/handle/tede/2163.

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The object of study of this report is the sexuality of men and women with acquired paraplegia and quadriplegia, who are members of the Association of People with Disabilities of the State of Goiás (Adfego). Its main purpose is to understand the social impacts of disabilities in their lives, and also to analyze how the rehabilitation process is and how are the challenges they face to survive with a new body. The research has a qualitative dimension, focusing on oral history, and it demonstrates possibilities of reflection in the scope of Social Service. According to Puhlmann (2000), human sexuality is still a theme full of myths and prejudices, and talking about sexuality means broaching power, prejudice, body interdiction, desire, passion, pleasure, life, death, control, gender, sin and the building of sexual roles. As such, the sexuality of disabled people, real social minorities who passes almost unnoticed by the eyes of society, needs to be rethought due to the segregation and prejudice they face. The number of people with paraplegia and quadriplegia rises day after day in Brazil. The 2000 census showed that 24.5 million Brazilians had some kind of disability, which is about 14.5% of the Brazilian population. Those numbers cannot be ignored. During the interviews, these people related their histories, how they became disabled and how they got to Adfego seeking rehabilitation. This essay is developed in three chapters. The first one indicates the first findings with explanations about the research, towards the data collection tools and the quantitative analysis, the empirical approach that characterizes Adfego, delineating Social Service in the institution and the means used in the research process. The second chapter examines the history of the body, beginning with the platonic vision, the influence of Plato s thought in the Middle Age, debating what was thought about the body at that time and today. Afterwards, it evaluates body and gender, willing a better comprehension of the body of men and women with paraplegia and quadriplegia, as well as their sexuality. The third chapter contemplates the concept of physical disability and sexuality, along with an analysis of the interviews, intending to ponder the challenges that these men and women face to survive after they became disabled.
Este trabalho tem como objeto de estudo a sexualidade de homens e mulheres com paraplegia e tetraplegia adquiridas, integrantes da Associação dos Deficientes Físicos do Estado de Goiás (Adfego), seu objetivo geral consiste em compreender os impactos sociais na vida dessas pessoas, além de analisar como se dá o seu processo de reabilitação e os desafios que enfrentam para sobreviverem com um novo corpo. A pesquisa possui eminentemente uma dimensão qualitativa com enfoque em história oral e apresenta possibilidades de reflexões sobre o tema no âmbito do Serviço Social. De acordo com Puhlmann (2000), a sexualidade humana ainda continua um tema repleto de mitos e preconceitos, e falar de sexualidade significa tratar de repressão, poder, preconceito, interdição do corpo, desejo, paixão, prazer, vida, morte, controle, gênero, pecado, construção de papéis sexuais. Dessa forma, busca-se repensar a sexualidade das pessoas com deficiência física, minorias sociais que permanecem quase invisíveis aos olhos da sociedade, ante a segregação que lhes é imposta, e que são alvo dos mais diversos preconceitos. A cada dia cresce o número de pessoas que adquire paraplegia e tetraplegia no Brasil. O censo 2000 apontou um total de 24,5 milhões de pessoas com algum tipo de deficiência, cerca de 14,5% da população brasileira, números que não podem ser desprezados. Durante as entrevistas, essas pessoas relataram suas histórias de vida, como adquiriram a deficiência física, e como buscaram a Adfego visando sua reabilitação. Esta dissertação está desenvolvida em três capítulos. O primeiro apresenta os apontamentos iniciais com explicações sobre a pesquisa, os instrumentos da coleta de dados e a análise qualitativa, o recorte empírico que caracteriza a Adfego, enfatizando o Serviço Social na instituição e os caminhos percorridos na realização da pesquisa. O segundo capítulo aborda a história do corpo, iniciando com a visão platônica e sua influência na Idade Média e ao longo desses períodos históricos até a contemporaneidade. Em seguida, apresenta uma breve reflexão sobre corpo e gênero, visando melhor compreensão do corpo de homens e mulheres com paraplegia e tetraplegia, bem como suas sexualidades. O terceiro capítulo contempla o conceito de deficiência física e sexualidade além da análise das entrevistas, procurando refletir sobre os desafios que essas pessoas enfrentam após a deficiência.

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Pentland, Wendy E. "Upper extremity function in long term paraplegia and implications for independence." Thesis, Curtin University, 1992. http://hdl.handle.net/20.500.11937/2435.

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The intent of this study was to describe the effects of long term paraplegia and wheelchair use on upper limb function. Bilateral upper extremity isokinetic and grip strength, pain, and active range of motion were compared in 52 men with paraplegia (mean age 44 years: mean duration of spinal cord injury (SCI) 17 years) and 52 age and activity-level matched able-bodied men. The impact of upper limb pain on activities of daily living (ADL) performance was examined in the paraplegic sample. Strength was not significantly different between the two samples except for bilateral shoulder flexion (able-bodied stronger) and bilateral elbow extension (paraplegia stronger). Strength changed similarly with age in the two groups. The effect of duration of SCI on strength, excluding age, was significant for grip strength only. Duration of paraplegia and activity-level were better predictors of strength than age in 9 of 14 muscle groups, whereas in the able-bodied, age was the best strength predictor. Limited bilateral shoulder internal rotation and non-dominant external rotation were associated with paraplegia. Upper limb pain in the past week was associated with paraplegia (shoulder p<.001; elbow p<.00l; wrist/hand p<.00l). Reported pain prevalences for the paraplegic sample were: shoulder 39%, elbow 31%, wrist/hand 40%. The paraplegic subjects' pain intensity ratings revealed them to be experiencing mild to moderate levels of upper limb pain. Shoulder pain was associated with duration of injury, exclusive of age (p<.05). Measurement of the impact of upper limb pain On 18 activities of daily living (ADL) tasks revealed pain to be experienced by the majority of subjects with paraplegia (mobility tasks 60%; self-care tasks 5 8 % ; general activities tasks 60%). However, only 23-35% had made changes in their routines, and 6-16% had sought assistance with ADL due to upper limb pain. When age was excluded, it appeared that duration of SCI was more associated with pain during ADL, but this was significant only for pain during self-care tasks. The tasks most reported to cause upper limb pain were work/school, sleep, wheelchair transfers, outdoor wheeling, and driving. These results suggest that preventative and management steps are required to ensure continued independence and quality of life in this group over time. The effect of duration of SCI suggests that limitations in upper limb function may be seen in this population at relatively young ages.

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Pentland, Wendy E. "Upper extremity function in long term paraplegia and implications for independence." Curtin University of Technology, School of Physiotherapy, 1992. http://espace.library.curtin.edu.au:80/R/?func=dbin-jump-full&object_id=15684.

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The intent of this study was to describe the effects of long term paraplegia and wheelchair use on upper limb function. Bilateral upper extremity isokinetic and grip strength, pain, and active range of motion were compared in 52 men with paraplegia (mean age 44 years: mean duration of spinal cord injury (SCI) 17 years) and 52 age and activity-level matched able-bodied men. The impact of upper limb pain on activities of daily living (ADL) performance was examined in the paraplegic sample. Strength was not significantly different between the two samples except for bilateral shoulder flexion (able-bodied stronger) and bilateral elbow extension (paraplegia stronger). Strength changed similarly with age in the two groups. The effect of duration of SCI on strength, excluding age, was significant for grip strength only. Duration of paraplegia and activity-level were better predictors of strength than age in 9 of 14 muscle groups, whereas in the able-bodied, age was the best strength predictor. Limited bilateral shoulder internal rotation and non-dominant external rotation were associated with paraplegia. Upper limb pain in the past week was associated with paraplegia (shoulder p<.001; elbow p<.00l; wrist/hand p<.00l). Reported pain prevalences for the paraplegic sample were: shoulder 39%, elbow 31%, wrist/hand 40%. The paraplegic subjects' pain intensity ratings revealed them to be experiencing mild to moderate levels of upper limb pain. Shoulder pain was associated with duration of injury, exclusive of age (p<.05). Measurement of the impact of upper limb pain On 18 activities of daily living (ADL) tasks revealed pain to be experienced by the majority of subjects with paraplegia (mobility tasks 60%; self-care tasks 5 8 % ; general activities tasks 60%). However, only 23-35% had made changes in their routines, and 6-16% had sought assistance with ADL due to upper limb pain. ++
When age was excluded, it appeared that duration of SCI was more associated with pain during ADL, but this was significant only for pain during self-care tasks. The tasks most reported to cause upper limb pain were work/school, sleep, wheelchair transfers, outdoor wheeling, and driving. These results suggest that preventative and management steps are required to ensure continued independence and quality of life in this group over time. The effect of duration of SCI suggests that limitations in upper limb function may be seen in this population at relatively young ages.

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Courtois, Frédérique J. "Residual erectile capacity of paraplegic rats." Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=74335.

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This series of studies was designed to investigate the residual erectile capacity of paraplegic rats. Results from human studies suggest that erectile capacity in paraplegic men may be maintained following psychogenic, but not reflexogenic, stimulation. Using an animal model to overcome methodological difficulties associated with human studies, reflexogenic stimulation was defined as local stimulation of the genitals, and psychogenic stimulation as stimulation of a key central structure. Results from higher CNS stimulation showed that electrical stimulation of the medial preoptic area of the hypothalamus reliably triggers penile responses in rats and elicits penile responses as a post-stimulation effect. Optimal stimulation parameters were identified and used to maximize the effect on spinal animals. The effect of central stimulation was then compared to that of local stimulation to examine whether truly sexual responses were elicited. Results demonstrated that central stimulation elicits primarily erectile responses with a few urine-marking responses. The two stimulation sources were then used to test the residual erectile capacity of paraplegic rats whose lesions interrupted the L6-S1 fibers. Results showed that a high proportion of animals (85%) indeed maintain erectile responses to central stimulation but lose reflex activity from the genital area. These results support the hypothesis under study and are discussed in terms of the neural substrates of erection and their implication at the human level.

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Heller, Benjamin Wolf. "The production and control of functional electrical stimulation swing-through gait." Thesis, University of Strathclyde, 1992. http://oleg.lib.strath.ac.uk:80/R/?func=dbin-jump-full&object_id=21272.

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This thesis addresses some of the issues involved in the synthesis of swingthrough gait by functional electrical stimulation (FES). A general introduction is given to paraplegic gait, then the following areas are reviewed in detail: previous production of FES swing-through gait; biomechanical and energetics analyses of swing-through gait; general techniques for controlling FES gait; and the use of machine-learning techniques. Trained, non-impaired subjects wearing adjustable braces are used to model the movement patterns of FES swing-through gait. It is found that flexing the knees during the body-swing phase of swing-through gait reduces the energy cost of the gait. Hardware and software are developed to allow the production of FES swing-through gait in paraplegics with mid and low thoracic lesions of the spinal cord. The kinematic parameters of the resulting gait are assessed. It is found that the gait is faster than both knee-ankle-foot-orthosis (non FES) gait and reciprocal FES gait. This constitutes the first demonstration of FES free-knee swing-through gait in a spinal cord injured population. A symbolic inductive learning program, Empiric, is described. This program uses 'fuzzy' weighting to cope with uncertainty in the training data. This technique is found to offer improved classification performance (on artificially generated data) over both the orthodox (non-weighted) approach and an alternative weighting strategy. The fuzzy inductive learning technique is compared with a multi-layer perceptron type neural network for identifying the invariants (rules) that describe muscle activation during normal human gait. Both techniques are found to successfully model the muscular activation; the inductive learning technique has the advantage of producing explicit rules which are easily understood. The fuzzy inductive learning technique is applied to data obtained from the (previously mentioned) model of swing-through gait, in an attempt to mimic the control strategies used by the unimpaired subjects. It is found that the gait is best modelled with simple rule-sets, based on only one sensor. It is argued that this technique allows the automatic derivation of control strategies for FES gait: in particular, it allows the subjects' movement intentions to be determined. It is suggested that this 'intention detection' provides a more natural interface between a paraplegic subject and an FES control system than the techniques which are currently used.

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Silva, Gelson Aguiar da. "Independência funcional de pessoas portadoras de paraplegia em programa de reabilitação : resultados e fatores associados." reponame:Repositório Institucional da UFC, 2006. http://www.repositorio.ufc.br/handle/riufc/1960.

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SILVA, Gelson Aguiar da. Independência funcional de pessoas portadoras de paraplegia em programa de reabilitação : resultados e fatores associados. 2006. 104 f. Dissertação (Mestrado em Enfermagem) - Universidade Federal do Ceará. Faculdade de Farmácia, Odontologia e Enfermagem, Fortaleza, 2006.
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Spinal cord injury can convey constraints to individuals, but a rehabilitation program which evalueates the functional gain allows outpatient care during the rehabilitation process. The aim of the present research was to evaluate results obtained trough the administration of Functional Independence Measure (FIM scale) in paraplegic petients within rehabilitation programs, by connecting such results with the variables: age, gender, time, level and etiology of the lesion, classification of lesion according to the ASIA (American Spinal Injury Association) criterion, time of hosptalization, educational status and complications (pressure sores, heterotopic ossofication, spasticity and neuropathic pain). For such, a transversal quantitative retrospective descriptive study was proceeded by analyzing medical records and the scoresobtained with FIM scale. The investigations were done using spedific tests, through the SPOSS software (statistical Package for the Social Science), version 13 for Windws. Results demonstrated that among the variables there studied variables there is a direct correlation between age, time of lesion, motor level, time of hospitalization and hospitalization wich a companion and the independence gain (P< 0.05). Besides there is an inverse relation between the lession classification (AIS A, B, C, D, or E) and the functional gain (P< 0.05). Functional evaluation of people with spinal cord injury though MIF scale allows to fallow up functional gain in people within a rehabilitation program.
A lesão medular pode trazer limitações ao indivíduo, mas um programa de reabilitação que avalie o ganho funcional permite o acompanhamento, ao longo do decurso de reabilitação. O objetivo desta pesquisa foi avaliar os resultados obtidos com a aplicação da Medida de Independência Funcional (MIF) em pessoas portadoras de paraplegia em programa de reabilitação; associando tais achados com as variáveis: idade, sexo, tempo, nível e etiologia da lesão, classificação da lesão segundo o critério da ASIA (American Spinal Injury Association), tempo de hospitalização, escolaridade e complicações (úlcera de pressão, ossificação heterotópica, espasticidade e dor neuropática). Para isso foi realizado um estudo quantitativo transversal, de natureza retrospectiva, de caráter descritivo, com análise de 228 prontuários e da pontuação obtida mediante a Escala MIF. As análises foram feitas sob testes específicos com auxílio do software SPSS (Statistical Package for the Social Science), versão 13 para Windows. Os resultados mostraram que, dentre as variáveis estudadas, há uma relação direta entre a idade, o tempo de lesão, nível motor, tempo de internação e a internação com acompanhante e o ganho de independência (p< 0,05). Também há uma relação inversa entre a classificação da lesão (AIS A, B, C, D ou E) e o ganho funcional (p< 0,05). A avaliação funcional em pessoas portadoras de lesão medular, por meio da Escala de Medida de Independência Funcional, permite o acompanhamento do ganho funcional em pessoas submetidas a um programa de reabilitação.

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Mongeon, Kevin. "The Study of Hereditary Spastic Paraplegia-Causing Gene DDHD2 Using Cell Models." Thesis, Université d'Ottawa / University of Ottawa, 2018. http://hdl.handle.net/10393/37474.

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Hereditary spastic paraplegia type 54 is a rare autosomal recessive neurological gait disorder characterized by paraplegia, muscle spasticity, and intellectual disability. This length-dependent distal axonopathy is caused by mutations in the DDHD2 gene, which encodes the intracellular phospholipase A1 DDHD2. Little is known about the molecular function of the DDHD2 protein, especially in the context of HSP54. Thus, there is a need to further investigate its molecular functions and investigate the impact of DDHD2 deficiency in disease-relevant cells. Here, lipidomic profiling of dermal fibroblasts derived from three unrelated patients has revealed 19 glycerophosphoethanolamine species at differential levels in patients relative to unaffected controls. However, patient cells appear to have an unaffected Golgi apparatus morphology and lipid droplet formation, despite DDHD2’s proposed roles in these processes. To study the gene function in neuronal cells, I transdifferentiated the fibroblasts into induced neuronal precursor cells and found all the patient cells arrested in the G0/G1 phase of upon conversion. Given that these cell lines are unsustainable, I generated a stable knockdown cell line in the highly proliferative HEK293A to study the molecular biology of DDHD2. The knockdown cells had a reduced growth, were delayed in the G2/M phase of the cell cycle, and became multinucleated. I then treated the cells with antineoplastic compounds paclitaxel and nocodazole and found more knockdown cells in G0/G1 than controls, suggesting the possible occurrence of mitotic slippage. Lastly, I report a novel subcellular localization for DDHD2 at the microtubule organization center.

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Wang, Xinnan. "Neuronal and signaling roles of a Drosophila hereditary spastic paraplegia gene SPG6." Thesis, University of Cambridge, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612846.

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Barca, Alexandre José Lopes. "Desenvolvimento e projeto de um exoesqueleto ativo para pacientes com paraparesia-paraplegia." Master's thesis, Universidade de Aveiro, 2015. http://hdl.handle.net/10773/16318.

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Mestrado em Engenharia Mecânica
A paraplegia traduz-se na perda de controlo e sensibilidade dos membros inferiores, impossibilitando o andar e dificultando permanecer sentado. Esta limitação dos membros inferiores tem como consequência o limite da movimentação dos indivíduos de forma independente, vendo assim comprometida a sua autonomia para as atividades pessoais e profissionais. Provavelmente, a maior limitação de uma pessoa com paraplegia é a sua própria casa, isto pelo facto de a maioria das casas não possuir as condições de acessibilidade e respetivos meios auxiliares de que estas se socorrem para minorar os problemas de locomoção. Tendo em consideração que o meio auxiliar mais utilizado é a cadeira de rodas, qualquer alteração ao nível da superfície de apoio da cadeira torna-se um entrave à acessibilidade destes pacientes, assim como à alteração da direção do movimento, na maioria das vezes incompatível com o espaço livre nos edifícios. Igualmente o facto de a pessoa estar na posição sentada, dificulta ou limita muito as suas atividades, já que grande parte das interfaces estão preparadas para uma postura ereta. Apesar destas limitações a cadeira de rodas continua a ser o meio auxiliar de locomoção mais utilizado por estes pacientes. Esta circunstância deve-se principalmente ao facto de não existirem reais soluções alternativas em termos de flexibilidade, facilidade de utilização, fiabilidade e custo. Assim, foi objetivo da presente dissertação o desenvolvimento e projeto de um exoesqueleto ativo de baixo custo, que replique os princípios de funcionamento dos membros inferiores. Este consiste em estruturas mecânicas paralelas às pernas do indivíduo que, através da utilização de atuadores e de um sistema de controlo, possibilitam os movimentos dos três segmentos do membro inferior, para que estes gerem os movimentos necessários às diferentes atividades fisiológicas a desenvolver, tais como: caminhar, subir e descer escadas, sentar e levantar, garantindo simultaneamente a sustentação do corpo do indivíduo. Inicialmente foi realizada uma análise à anatomia e antropometria dos membros inferiores. Na etapa seguinte aplicou-se um processo estruturado de desenvolvimento de produto, onde foi realizada uma análise de mercado, a recolha e hierarquização das necessidades dos utilizadores, definição das especificações técnicas, desenvolvimento da matriz da qualidade, geração e seleção dos conceitos para as diferentes funções, estabelecida a arquitetura e modularidade, desenvolvida a análise de falhas e efeito cliente e análise de custos, concluindo com a modelação tridimensional do exoesqueleto. Posteriormente, realizou-se a verificação do correto dimensionamento dos elementos estruturais do exoesqueleto, através do método de elementos finitos, para diferentes condições de carga representativas da utilização diária do exoesqueleto, e procedeu-se à realização de um protótipo de aspeto à escala por um processo de prototipagem rápida e ao desenvolvimento dos princípios de controlo e comando do exoesqueleto. O principal resultado deste trabalho é a materialização de toda a documentação técnica com os desenhos de montagem, conjunto e definição que permitem a industrialização e fabricação deste exosqueleto de elevado potencial para indivíduos paraplégicos ou mesmo apenas com parte dos membros inferior, assim como, a sua utilização em ambientes de reabilitação de indivíduos com acidente vascular cerebral, que são em maior número do que aqueles com paraplegia e paraparésia, a um custo bastante competitivo relativamente às soluções disponíveis comercialmente.
The paraplegia is the loss of control and sensitivity of the lower limbs, which restricts ambulatory function and difficult seated posture. This condition of the lower limbs consequently limits personal and professional activities in terms of autonomous individual mobility. Probably, the major limitation of someone with paraplegia, probably, his own house, since most of the houses aren’t equipped with adequate accessibility and proper aid that help lessen locomotion problems. Considering the wheelchair the most used aid, any change in surface’s slope becomes an obstacle to its user, similarly, tight spaces of buildings become a challenge to perform any manoeuvres in change of direction. Moreover the fact that a person is seated greatly hamper its user activities, since most of the activities require the standing position. Although its limitations, the wheelchair remains the main aid of movement used by patients. The main reason of this is the lack of a real alternative solution in flexibility, easy handling, reliability and price. Hence, the main objective of this work is the design and development of an affordable powered exoskeleton, which replicates the principle of lower limb motion. This consists of a set of mechanical structures parallel to the legs, with actuators and control system that enables daily task movements to be performed, such as walking, go up and down stairs, standing and sitting, while insuring user body support. Initially was performed a study of lower limb anatomy and anthropometry. Then was applied the structured process of product development, was made a benchmark of existing products, a survey and rank of user requirements, set target technical specifications, quality function deployment, creation and assortment of concepts of the various functions, establish architecture and modularity, failure mode and effects analysis, estimate cost and computer aided design of exoskeleton tri-dimensional model. The dimensioning of the main structural components was verified through finite element method for the various load conditions related with expected daily use, then a scale model prototype was made by rapid prototyping technics and the principles of command and control of the exoskeleton were developed. The main outcome of this work is the realization of all technical documentation with assembly, assembling and definition drawings to allow fabrication of this exoskeleton of high potential for paraplegic individuals or even with a missing part of the lower limb, as well rehabilitation environment of cerebrovascular accident individuals which are in greater numbers than paraplegia and paraparesis, at a highly competitive cost relatively to the available commercial solutions.

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Tancredo, Janaina Roland 1980. "Análise clínica e funcional da espasticidade antes e após a estimulação elétrica neuromuscular e marcha em esteira com EENM em lesados medulares." [s.n.], 2012. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313748.

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Orientador: Alberto Cliquet Junior
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: A lesão medular tem como uma de suas conseqüências a espasticidade, que está geralmente presente em lesões acima do último nível torácico (T12) e pode ser avaliada através de indicadores quantitativos e qualitativos. Na pesquisa, foram avaliados dois grupos, o da Estimulação Elétrica Neuromuscular (EENM), com dezesseis pacientes e o grupo da Marcha em Esteira com EENM com oito pacientes; todos com diagnóstico de paraplegia e tetraplegia com algum grau de espasticidade. Foram utilizadas para esta avaliação as escalas: modificada de Ashworth, a de espasmos musculares, a subjetiva da espasticidade e o teste pendular. Para aplicação do teste pendular foi utilizado o Dispositivo de Teste Pendular (DTP) - (equipamento que foi elaborado e construído especificamente para avaliar a espasticidade, que possui um acelerômetro de transdutores de cristais de quartzo e um eletrogoniômetro de fibra óptica flexível que medem as tensões e os deslocamentos angulares, respectivamente) do Laboratório de Biomecânica e Reabilitação do Aparelho Locomotor. Os pacientes do grupo da EENM realizaram EENM nos músculos quadríceps e nervo fibular, sendo que os testes foram aplicados antes e logo após o procedimento. O mesmo foi realizado para o grupo da Marcha em Esteira com EENM. Os dados mostraram uma diminuição da espasticidade nos dois grupos, representado no grupo da EENM por variações nos parâmetros F1Ang, F1 Amp, E1 Amp, Plat Amp e ERI e no parâmetro E1 Ang no grupo da marcha. O grupo da EENM onde foi subdividido (pacientes com e sem medicação) notamos uma diferença significativa no subgrupo sem medicação na maioria dos parâmetros avaliados. Já o subgrupo com medicação apenas os parâmetros On Ang e RI foram significativos. Além disso, os dados da escala subjetiva e da escala modificada de Ashworth, após a estimulação elétrica neuromuscular também apresentaram uma redução nos valores da espasticidade, sendo que no grupo da marcha em esteira apenas a escala subjetiva foi significativa
Abstract: Spinal cord injury has as one of its consequences the spasticity, which is usually present in lesions above the last thoracic level (T12) and it can be assessed through quantitative and qualitative indicators. In the study it was evaluated two groups: Neuromuscular Electrical Stimulation (NMES) group with sixteen patients and the group of eight patients that performed treadmill gait with partial body weigth support and NMES, all of them were diagnosed with paraplegia or tetraplegia with some degree of spasticity. The following scales were used for assessment: Modified Ashworth Scale, Muscle Spasms Scale, Subjective Scale of Spasticity and the pendulum test. For application of the pendulum test it was used Pendular Test Device (PTD) was used, this equipment was designed and built specifically to evaluate spasticity, which has an accelerometer of quartz crystals transducer and a flexible fiber optic electrogoniometer to measure the acceleration and angular displacement, respectively. The patients in the NMES group performed NMES in the quadriceps muscle and fibular nerve, and the tests were applied before and after the procedure. The same was done for the treadmill gait with NMES group. The data showed a decrease in spasticity in both groups, represented in the NMES group by changes in the F1Ang, F1Amp, E1Amp, Plat Amp and ERI parameters of the PTD and the gait group also presented a change in the E1Ang. In the group NMES, which was divided (patients with and without drugs), it was noticed a significant difference in the subgroup without medication in most parameters. However, in the subgroup with medication only the OnAng and RI parameters were significant. In addition, data from the Subjective Scale of Spasticity and the Modified Ashworth Scale also showed a reduction in the values in the spasticity, and in the group of treadmill gait just a Subjective Scale of Spasticity was significant
Mestrado
Fisiopatologia Cirúrgica
Mestre em Ciências

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Lino, Sémebber Silva. "Modelagem e simulação de dispositivo manual auxiliar para mobilidade de cadeirantes com paraplegia por lesão medular." Universidade Federal de Goiás, 2018. http://repositorio.bc.ufg.br/tede/handle/tede/8232.

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Extension or flexion movements of the body in a healthy individual are routine physical activity in daily life, necessary for its autonomy and independence.Injuries to the spinal cord and brain are the main causes of paraplegia, which makes it impossible for human locomotion with autonomy. The use of a wheelchair will help them into your daily horizontal mobility. But the possibility of using an orthotic device to allow it to increase the amplitude of the movements of extension or flexion will help in maintaining your bone density, improving your blood circulation and enlargement of muscle tone, involving tension in muscles, arteries and other tissues organic well as excessive involuntary reflex. Therefore, this study aims to present a mathematical model to describe the trajectory of nodes corresponding to the movable joints and upper extremity of a low cost orthosestic device, of the exoskeleton type, to be coupled in the wheelchair, using computer simulation to determine the variation of positions and velocities of these joints associated with the articulations of the hip and lower limbs of the paraplegic wheelchair user, when performing extension or flexion movements of the body segments, besides the simulation of a prototype developed in CAD. As for the main results of the research, first, there is the trajectory of the nodes with respect the mobile joints and upper end using the representation of Denavit-Hartenberg, generated graphically by numerical and computer simulation, in order to validate and make feasible the mechanical construction of the device. Then, as the variation of the positions and velocities of motor gasket associated with the user’s knee joint device, has its graphical representation plucked by multistep interactive Runge-Kuta 4th Order, using the Lagrange equations for numerical and computational simulation of the transmission system drive, with the application of a torque on the crank of the robotic mechanism proposed, thus confirming its usability, reliability and security. Finally, the development of a 3D virtual prototype device CAD. Therefore, the preparation and provision of this manual orthotic device developed to assist in the vertical mobility of the paraplegic with spinal cord injury, will improve physical, psychological health, functional independence and daily well-being, and helping them in their autonomy to support on the feet.
Os movimentos de extensão ou flexão corporal em um indivíduo saudável são atividades físicas rotineiras necessárias para sua autonomia e independência. As lesões da medula espinhal e do cérebro são as principais causas da paraplegia, que impossibilitam a locomoção humana com autonomia. O uso de uma cadeira de rodas os auxiliará em sua mobilidade horizontal diária. Mas a possibilidade de uso de um dispositivo ortético que lhe permita aumentar a amplitude dos movimentos de extensão ou flexão, contribuirá na manutenção da sua densidade óssea, melhorando sua circulação sanguínea e ampliação do tônus muscular, envolvendo tensão em músculos, artérias ou outros tecidos orgânicos além de reflexos involuntários excessivos. Por conseguinte, este estudo objetiva apresentar um modelo matemático para descrever a trajetória dos nós correspondentes as juntas móveis e extremidade superior de um dispositivo ortético manual de baixo custo, do tipo exoesqueleto, a ser acoplado na cadeira de rodas do paraplégico, usando-se de simulação computacional para determinar a variação das posições e velocidades dessas juntas associadas às articulações do seu quadril e membros inferiores, ao realizar movimentos de extensão ou flexão dos segmentos corporais, além da simulação de um protótipo desenvolvido em CAD. Quanto aos principais resultados decorrentes da pesquisa, primeiramente, obteve-se a trajetória dos nós referentes às juntas móveis e extremidade superior utilizando-se da representação de Denavit-Hartenberg, gerada graficamente por simulação numérico- computacional, no intuito de validar e viabilizar a construção mecânica do dispositivo. Em seguida, a variação das posições e velocidades da junta motora associada à articulação do joelho do usuário do dispositivo, teve sua representação gráfica tangida pelo método interativo multipasso de Runge-Kuta de 4ª ordem, usando-se das equações de Lagrange para simulação numérico-computacional do acionamento do sistema de transmissão, com a aplicação de um torque na manivela do mecanismo robótico proposto, confirmando assim, a sua usabilidade, confiabilidade e segurança. Por último, o desenvolvimento de um protótipo virtual 3D em CAD do dispositivo. Portanto, a confecção e disponibilização desse dispositivo ortético desenvolvido para auxiliar na mobilidade vertical do paraplégico com lesão medular, melhorará sua saúde física, psicológica, independência funcional e bem-estar diário, auxiliando-o na autonomia para apoiar sobre os pés.

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Jović, Jovana. "Vers une assistance fonctionnelle du transfert et de la posture chez le sujet paraplégique sous électrostimulation : de la simulation à l'expérimentation." Thesis, Montpellier 2, 2012. http://www.theses.fr/2012MON20243/document.

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Environ 90 millions de personnes dans le monde souffrent de lésions de la moelle épinière. Cette thèse se focalise sur les individus paraplégiques ayant une lésion complète, c'est à dire les personnes souffrant de pertes sensorielles et motrices des membres inférieurs. Grâce aux progrès médicaux réalisés autour de la prise en charge des patients dès les premiers instants après l'accident, l'espérance de vie de ces personnes est maintenant comparable à celle de sujets dits normaux. Ceci a généré un changement radical dans les priorités de la recherche médicale qui aspire maintenant à améliorer leur qualité de vie. Les patients utilisant des fauteuils roulants sont soumis à des efforts musculaires et articulaires très intenses au niveau des membres supérieurs et particulièrement des épaules. Ces efforts sont observables durant les phases de propulsion du fauteuil, mais également dans la des tâches du quotidien telles que le transfert pour les activités domestiques ou la conduite. En conséquence les complications et les troubles musculo squelettiques sont fréquents chez ces patients ce qui peut causer une diminution ou même une perte totale des fonctions motrices encore préservées et de fait impacter l'autonomie de ces personnes. De part sa mobilité réduite la population paraplégique fait également face à d'autres problèmes médicaux comme la fragilité osseuse ou la mauvaise circulation sanguine. Ces changements métaboliques entrainent une augmentation du risque de diabète, risques d'escarres, et de la spasticité musculaire.L'utilisation de la Stimulation Electrique Fonctionnelle (SEF) pour la restauration du mouvement a montre son intérêt à la fois fonctionnel et thérapeutique. La restauration du mouvement au moyen de la SEF est étudiée depuis de nombreuses années mais le nombre de systèmes vraiment opérationnels et fonctionnels est toujours très limité. Dans ce contexte, le but de cette thèse est l'étude de solutions permettant d'améliorer la qualité de vie de personnes paraplégiques en restaurant les possibilités de lever de chaise, de transfert depuis le fauteuil roulant vers une autre surface et de maintien de la station érigée. Nous avons cherché au cours de ce travail à trouver un bon compromis entre la performance fonctionnelle du système d'assistance proposé et sa simplicité. Pour ce faire, nous nous sommes attachés, dans un contexte d'utilisation clinique et à domicile dans le futur, à réduire le nombre de capteurs ainsi que la complexité calculatoire.Dans cette thèse, nous avons réalisé l'étude du mouvement optimal à produire pour réaliser une tâche de lever de chaise qui réduirait les efforts au niveau des bras ainsi que la fatigue musculaire induite par l'utilisation de la SEF. Nous avons validé expérimentalement un nouveau système de contrôle en boucle-fermée pour le lever de chaise en réalisant des expériences incluant six patients paraplégiques.Les bénéfices de l'utilisation de la SEF pendant un mouvement de transfert en pivot chez le patient paraplégique ont été étudiés en utilisant un processus d´optimisation et un modèle biomécanique de l'humain.Enfin, une nouvelle solution pour le contrôle de la station érigée chez le patient paraplégique a été proposée dans cette thèse. Le contrôleur proposé permet un maintien de la station érigée prolongée tout en prenant en compte les mouvements volontaires du patient.Finalement, les résultats obtenus lors de cette thèse apparaissent comme très prometteurs et nous croyons que la recherche scientifique devrait persister dans cette voie tout en continuant les collaborations et interactions entre équipes médicales, ingénieurs et patients paraplégiques
Today there are around 90 million people suffering from Spinal Cord Injury (SCI) worldwide. This thesis focuses on individuals who are complete paraplegic, i.e. persons suffering the loss of sensor and motor functions of their lower extremities. Thanks to improvements in emergency medical care, problems faced by SCI individuals after an accident are no longer life threatening, and their life expectancy is now comparable to that of able-bodied individuals. This has generated a shift of the priorities in medical research and practice away from survival and towards improvements in the quality of life for those living in a wheelchair. Wheelchair users are subjected to intense loads on the muscles and joints of the upper trunk and upper limbs during wheelchair propulsion, and in almost every other daily activity such as transfer, driving and household activities. Consequently, musculoskeletal pain is a common complication in the patients with SCI, which could cause a decrease or even total loss in remaining functional independence. Due to their limited mobility paraplegic population also faces many other medical problemsrelated with bone loading, cardio-circulatory stimulation, metabolic changeswhich increases the risk of diabetes development, oint extension, pressure sore prevention, and occurrence of muscle spasticity.The use of Functional Electrical Stimulation (FES) for motion restoration in paralyzed limbs proved to have a potential to provide both functional and therapeutic benefits. Movement restoration by means of FES in patients suffering from SCI has been a subject of research for many years, nevertheless, the number of effective FES systems is still limited. Hence, the aim of this thesis is to investigate solutions which would improve quality of life of people suffering from SCI by restoring the sit-to-stand, transfer from one surface to an other and standing movements that are lost due to SCI. We aim to find a good trade-off between achievable functionality of the FES system and its simplicity in terms of number of required sensors and computational cost and, accordingly, its applicability in clinical practice and daily life of paraplegic individuals. The following contributions have been made.In this thesis, we have investigated the optimal manner for performing the sit-to-stand movement which would reduce arm efforts and muscle fatigue induced by FES has been investigated. Also, we have experimentally validated new closed-loop system for sit-to-stand transfer for needs of a paraplegic person by performing experiments with six paraplegic patients. As part of the strategy of the system, patients were instructed to perform a rising motion in a manner previously calculated as optimal.The benefits from using FES during sitting-pivot-transfer motion in paraplegic patients have been investigated using optimization process and biomechanical modeling of the human body.In this thesis, we have proposes a new solution for control of standing posture in SCI patients by means of FES. The proposed controller enables prolonged standing and it is able to cope with voluntary movements of the patient.The authors find that the results obtained in this thesis are promising and believe that the scientific research should be proceeded in this direction. We also hope to continue the collaboration with medical staff as we strongly believe that through the collaborative work between engineers, clinicians and patients an effective solutions will be found

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Melo, Uirá Souto. "Desvendando as bases moleculares da síndrome SPOAN: deleção em homozigose em região regulatória leva à superexpressão do gene KLC2." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-13122016-105746/.

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A síndrome SPOAN (acrônimo do inglês spastic paraplegia, optic atrophy and neuropathy) é uma doença neurodegenerativa de herança autossômica recessiva que tem como achados clínicos a atrofia ótica congênita não progressiva, paraplegia espástica e neuropatia ambas progressivas. Ela havia sido mapeada na região cromossômica 11q13, porém a variante patogênica e o gene associados à síndrome não haviam sido identificados. Após execução do sequenciamento do genoma completo de um paciente foi detectada a deleção de 216-pb (chr11.hg19:g.66,024,557_66,024,773del) em homozigose localizada em região regulatória upstream do gene KLC2. Surpreendentemente, essa deleção causa superexpressão do KLC2, detectada em estudos de Real-Time Quantitative Reverse Transcription PCR (qRT-PCR) utilizando fibroblastos e neurônios motores de pacientes comparados com controles. Ensaios utilizando o Danio rerio como modelo in vivo mostraram que tanto o knockdown quanto a superexpressão do klc2 em embriões de zebrafish causa o fenótipo de cauda curvada (leve ou grave); fenótipo esse associado às doenças neurodegenerativas e HSPs. Superexpressão de um gene causada por uma pequena deleção em região regulatória é um novo mecanismo que até então não havia sido descrito na condição autossômica recessiva. Estudos funcionais por meio de gene reporter de LacZ avaliando o padrão de expressão espaço-temporal da região regulatória wild-type e com a deleção de 216-pb foram realizados nesse trabalho em modelo de camundongo, porém, não foi possível identificar um padrão de expressão reprodutível do gene reporter nesse modelo. Por fim, camundongos transgênicos para a superexpresão do KLC2 humano foram gerados, no entanto não foram realizados testes físicos e comportamentais para validar o transgênico como modelo para síndrome SPOAN
SPOAN (the acronym of its clinical symptoms) syndrome is a neurodegenerative disorder mainly characterized by a progressive spastic paraplegia, congenital non-progressive optic atrophy and progressive neuropathy. A potential causative gene was mapped at 11q13, but so far no gene and mutation were identified. Whole-genome sequencing allowed to detect a homozygous 216-bp deletion (chr11.hg19:g.66,024,557_66,024,773del) located at the regulatory upstream region of the KLC2 gene. Surprisingly, this deletion causes KLC2 overexpression detected by Real-Time Quantitative Reverse Transcription PCR (qRT-PCR) using fibroblasts and motor-neurons from patients compared with controls. Assays using Danio rerio as in vivo model showed that the klc2 knockdown either its overexpression in zebrafish embryos causes mild to severe curly-tail phenotype; phenotype that is already well defined as suggestive of a neurodegenerative disorder and HSP. Overexpression of a gene caused by a small deletion in the regulatory region is a novel mechanism, which to the best of our knowledge, was never reported before in a recessive condition. Functional studies using LacZ reporter assay evaluating the spatiotemporal expression pattern of wild-type regulatory region and with the deletion of 216-bp were performed in this work using mouse, but was not possible to identify an especific gene reporter expression pattern in this animal model. As a last experiment, transgenic mice for human KLC2 overexpression were generated, though behavioral tests were not performed to validate this transgenic animal as a model for SPOAN syndrome

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Meijer, Inge A. "Genetic analysis of the hereditary spastic paraplegias." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=102811.

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The Hereditary Spastic Paraplegias (HSP) comprise a group of neurodegenerative diseases characterized by progressive lower limb spasticity. This disease, with a prevalence ranging from 1 to 20 in 100,000 individuals, is currently untreatable. The neuropathological hallmark is axonal degeneration of motor neurons in the corticospinal tract. However, the mechanisms of pathogenesis underlying this neurodegeneration remain poorly understood. Over the last decade, genetic studies of HSP have identified 33 loci including 14 genes. The main objective of this dissertation was to identify and characterize genes in a large North American HSP cohort. Mutation analysis of the two most common genes implicated in HSP, SPG3 and SPG4, led to the detection of nine novel mutations, including an ancestral SPG4 mutation in five French Canadian families. This screen also allowed for the molecular characterization of the p.del436N mutation in SPG3, which suggests a previously unidentified dominant-negative mechanism. Furthermore, a novel deletion in the VPS9 domain of the ALS2 gene was identified in a family with severe infantile onset HSP. In addition, linkage analysis and whole genome scan efforts resulted in the successful mapping of two novel HSP loci, SPG27 and SAX1. SAX1 represents the first locus for autosomal dominant spastic ataxia, a complicated form of HSP, with a common ancestor in Newfoundland. Finally, a positional candidate gene strategy at the SPG8 locus identified three missense mutations in a novel gene encoding strumpellin. Two mutations failed to rescue an axonal phenotype induced by morpholino knock-down of the SPG8 gene in zebrafish. Our efforts to identify and characterize HSP genes determined the underlying genetic cause in 36% of our cohort. These genetic causes include two novel loci and a novel gene. The findings are a major contribution to the characterization of the pathophysiology of HSP and significantly broaden the knowledge in the field of motor neuron disease. Analysis of the 15 known HSP genes suggests a common disease mechanism involving disrupted axonal membrane protein trafficking. Unraveling this mechanism will elucidate the functional maintenance of neurons in the corticospinal tract and will facilitate the development of therapies for HSP and related diseases.

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Barbosa, Islene Victor. "TraduÃÃo, adaptaÃÃo e validaÃÃo da Mishel uncertainty in illness scale for family members de pessoas com paraplegia." Universidade Federal do CearÃ, 2012. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=11822.

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CoordenaÃÃo de AperfeiÃoamento de Pessoal de NÃvel Superior
A incerteza Ã a inabilidade da pessoa em determinar o significado dos eventos relacionados Ã doenÃa. Trata-se de um estudo com delineamento metodolÃgico que teve por objetivos traduzir, adaptar culturalmente para a lÃngua portuguesa e validar a Mishel Uncertainty in Illness Scale for Family Members em familiares de pessoas com lesÃo medular com dÃficit motor tipo paraplegia e ainda, verificar a confiabilidade e validade da Mishel Uncertainty in Illness Scale for Family Members (PPUS-MF). A amosta envolveu 152 familiares dos pacientes internados com lesÃo medular. Os dados foram coletados em um hospital pÃblico referÃncia em trauma situado em Fortaleza-CE, no perÃodo de janeiro a julho de 2012 por meio de entrevista utilizando um formulÃrio para obtenÃÃo dos dados sociodemogrÃficos e a seguir com a aplicaÃÃo da versÃo final em portuguÃs da escala PPUS-MF. O formulÃrio da escala Ã apresentado no formato de Escala de Likert: discordo totalmente (1), discordo (2), indeciso (3), concordo (4) e concordo totalmente (5). O processo de adaptaÃÃo seguiu as etapas preconizadas pela literatura. A PPUS-FM permite medir o nÃvel de incerteza dos membros da famÃlia cujo parente estÃ doente. A escala Ã auto-aplicada, tem 31 itens sendo a pontuaÃÃo calculada somando-se as respostas com maior escore indicando nÃveis mais elevados de incerteza e sua pontuaÃÃo varia entre 31-155. Quanto maior o escore, maior a incerteza do familiar em relaÃÃo Ã doenÃa. Os 31 itens sÃo distribuÃdos em quatro domÃnios, AmbigÃidade, Falta de Clareza, Falta de InformaÃÃo e Imprevisibilidade. As propriedades psicomÃtricas analisadas foram: a validade de conteÃdo (comitÃ de juÃzes); a validade de construto (anÃlise fatorial confirmatÃria e a comparaÃÃo das mÃdias dos fatores e dos escores totais segundo as variÃveis sociodemogrÃficas dos familiares do estudo); a confiabilidade (teste-reteste e alfa de Cronbach). Os aspectos Ãticos e legais foram contemplados. Os resultados revelaram que, a maioria dos participantes era do sexo feminino 85 (55,9%), com mÃdia de idade de 42,8 anos, com grau de parentesco entre IrmÃo (a) 45 (29,8%), seguido por MÃe 27 (17,9%) e Esposa 26 (17,2%). Destes 84 (55,3%) do Interior, 116 (76,3%) possuem companheiro e 68 (44,7%) tiveram 4 a 8 anos de estudo com uma mÃdia de 8,78 anos e com 104 (68,4%) exercendo atividades laborais. Na avaliaÃÃo das propriedades psicomÃtricas, destaca-se que na anÃlise fatorial confirmatÃria, foram feitos ajustes excluindo-se os itens 4, 9, 14, 24,25 e 27. Destes os itens 4, 24 e 25 pertencentes ao domÃnio AmbigÃidade, os itens 9 e 14 integrantes do domÃnio Falta de Clareza e o item 27 do domÃnio Imprevisibilidade. Enfatiza-se que mesmo com a exclusÃo dos itens houve um super ajustamento de dados para se ter a convergÃncia. A versÃo traduzida da PPUS-MF apresentou coeficientes muito baixos do alfa de Cronbach em seus domÃnios: AmbigÃidade (0,54), Falta de Clareza (0,41), Falta de InformaÃÃo (0,40) e Imprevisibilidade (0,29). Houve um ajustamento dos dados na anÃlise fatorial confirmatÃria para a obtenÃÃo da convergÃncia revelando que a escala EMID-MF Ã, aceitÃvel e estÃ ajustada parcimoniosamente ao modelo original. Os coeficientes para os domÃnios foram baixos, tais resultados permitiram inferir que os itens parecem representar fenÃmenos que nÃo podem ser reduzidos a medidas mais sintÃticas, especialmente quando se mede um construto psicolÃgico. Concluiu-se, portanto que se obteve um instrumento confiÃvel e vÃlido capaz de ser aplicado com familiares de pacientes internados com lesÃo medular pontuando as caracterÃsticas e domÃnios de suas incertezas.

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42

Barbosa, Islene Victor. "Tradução, adaptação e validação da Mishel Uncertainty in Illness Scale for Family Members: aplicação em familiares de pessoas com paraplegia." reponame:Repositório Institucional da UFC, 2012. http://www.repositorio.ufc.br/handle/riufc/15629.

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BARBOSA, Islene Victor. Tradução, adaptação e validação da Mishel Uncertainty in Illness Scale for Family Members : aplicação em familiares de pessoas com paraplegia. 2012. 130 f. Tese (Doutorado em Enfermagem ) - Faculdade de Farmácia, Odontologia e Enfermagem, Universidade Federal do Ceará, Fortaleza, 2012.
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Uncertainty is the inability of the person to deter mine the meaning of the disease-related events. This is a methodological study that aimed t o translate, culturally adapt to Portuguese and validate the Mishel Uncertainty in I llness Scale for Family Members of people with spinal cord injury and motor deficit li ke paraplegia, and also verify the reliability and validity of the Mishel Uncertainty in Illness Scale for Family Members (PPUS-MF). The sample consisted of 152 relatives of inpatients with spinal cord injury. Data collection happened in a public hospital refer ence for trauma in Fortaleza-CE, Brazil, from January to July 2012, through interviews using a questionnaire to collect socio- demographic data and then apply the final version i n Portuguese of the PPUS-MF scale. The scale questionnaire is presented according to L ikert scale: strongly disagree (1), disagree (2), undecided (3), agree (4) and strongly agree (5). The adaptation process followed the steps recommended in the literature. T he PPUS-FM allows measuring the uncertainty level of family members of a sick perso n. The scale is self-administered, it has 31 items and the score is calculated by adding up t he answers with higher scores indicating higher levels of uncertainty and the score ranges f rom 31-155. The higher the score, the greater the uncertainty of family members regarding the disease. The 31 items are divided into four domains: Ambiguity, Lack of Clarity, Lack of Information and Unpredictability. The psychometric properties analyzed were: content validity (committee of experts); construct validity (confirmatory factor analysis an d comparison of the factors average and total scores according to socio-demographic variabl es of the family members in the study); reliability (test-retest and Cronbach's alpha). The ethical and legal aspects were considered. The results revealed that most participants were fe male, 85 (55.9%), with average age of 42.8 years, regarding the relationship 45 (29.8%) w ere siblings, followed by mother 27 (17.9%) and wife 26 (17.2%). Of these 84 (55.3%) co me from the interior of the State, 116 (76.3%) have a partner and 68 (44.7%) had 4-8 years of study with an average of 8.78 years and 104 (68.4%) perform work activities. In t he assessment of psychometric properties, we emphasize that in the confirmatory f actor analysis, adjustments were made excluding the items 4, 9, 14, 24, 25 and 27. Of the se, the items 4, 24 and 25 belong to the Ambiguity domain, items 9 and 14 to the Lack of Cla rity and item 27 to the Unpredictability. Even with the items exclusion the re was a super adjustment in data to obtain convergence. The translated version of PPUS- MF presented very low scores of Cronbach's alpha in its domains: Ambiguity (0.54), Lack of Clarity (0.41), Lack of Information (0.40) and Unpredictability (0.29). We adjusted the data in the confirmatory factor analysis to obtain the convergence, revealin g that the MUIS-FM is acceptable and parsimonious set to the original model. The coeffic ients for the domains were low; such results enabled us to assume that the items seem to represent phenomena that cannot be reduced to more synthetic measurements, especially when measuring a psychological construct. Therefore, we concluded that we obtained a valid and reliable instrument capable of being applied to family members of patie nts admitted with spinal cord injury, pointing the aspects and domains of their uncertain ties
A incerteza é a inabilidade da pessoa em determinar o significado dos eventos relacionados à doença. Trata-se de um estudo com delineamento metodológico que teve por objetivos traduzir, adaptar culturalmente para a língua portuguesa e validar a Mishel Uncertainty in Illness Scale for Family Members em familiares de pessoas com lesão medular com déficit motor tipo paraplegia e ainda, verificar a confiabilidade e validade da Mishel Uncertainty in Illness Scale for Family Members (PPUS-MF). A amosta envolveu 152 familiares dos pacientes internados com lesão medular. Os dados foram coletados em um hospital público referência em trauma situado em Fortaleza-CE, no período de janeiro a julho de 2012 por meio de entrevista utilizando um formulário para obtenção dos dados sociodemográficos e a seguir com a aplicação da versão final em português da escala PPUS-MF. O formulário da escala é apresentado no formato de Escala de Likert: discordo totalmente (1), discordo (2), indeciso (3), concordo (4) e concordo totalmente (5). O processo de adaptação seguiu as etapas preconizadas pela literatura. A PPUS-FM permite medir o nível de incerteza dos membros da família cujo parente está doente. A escala é auto-aplicada, tem 31 itens sendo a pontuação calculada somando-se as respostas com maior escore indicando níveis mais elevados de incerteza e sua pontuação varia entre 31-155. Quanto maior o escore, maior a incerteza do familiar em relação à doença. Os 31 itens são distribuídos em quatro domínios, Ambigüidade, Falta de Clareza, Falta de Informação e Imprevisibilidade. As propriedades psicométricas analisadas foram: a validade de conteúdo (comitê de juízes); a validade de construto (análise fatorial confirmatória e a comparação das médias dos fatores e dos escores totais segundo as variáveis sociodemográficas dos familiares do estudo); a confiabilidade (teste-reteste e alfa de Cronbach). Os aspectos éticos e legais foram contemplados. Os resultados revelaram que, a maioria dos participantes era do sexo feminino 85 (55,9%), com média de idade de 42,8 anos, com grau de parentesco entre Irmão (a) 45 (29,8%), seguido por Mãe 27 (17,9%) e Esposa 26 (17,2%). Destes 84 (55,3%) do Interior, 116 (76,3%) possuem companheiro e 68 (44,7%) tiveram 4 a 8 anos de estudo com uma média de 8,78 anos e com 104 (68,4%) exercendo atividades laborais. Na avaliação das propriedades psicométricas, destaca-se que na análise fatorial confirmatória, foram feitos ajustes excluindo-se os itens 4, 9, 14, 24,25 e 27. Destes os itens 4, 24 e 25 pertencentes ao domínio Ambigüidade, os itens 9 e 14 integrantes do domínio Falta de Clareza e o item 27 do domínio Imprevisibilidade. Enfatiza-se que mesmo com a exclusão dos itens houve um super ajustamento de dados para se ter a convergência. A versão traduzida da PPUS-MF apresentou coeficientes muito baixos do alfa de Cronbach em seus domínios: Ambigüidade (0,54), Falta de Clareza (0,41), Falta de Informação (0,40) e Imprevisibilidade (0,29). Houve um ajustamento dos dados na análise fatorial confirmatória para a obtenção da convergência revelando que a escala EMID-MF é, aceitável e está ajustada parcimoniosamente ao modelo original. Os coeficientes para os domínios foram baixos, tais resultados permitiram inferir que os itens parecem representar fenômenos que não podem ser reduzidos a medidas mais sintéticas, especialmente quando se mede um construto psicológico. Concluiu-se, portanto que se obteve um instrumento confiável e válido capaz de ser aplicado com familiares de pacientes internados com lesão medular pontuando as características e domínios de suas incertezas.

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43

Hope, Gregory Bryne. "Making sense of paraplegia caused by violence-related gunshot injury / Gregory Bryne Hope." Thesis, North-West University, 2005. http://hdl.handle.net/10394/838.

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The overall aim of this study is to explore the subjective experiences of psychotherapeutic interventions and the sense-making process in a group of persons paralysed as a consequence of violence-related gunshot injury. An available and purposive sample of ten participants was selected from public and private hospitals in and around Johannesburg, and from the Association for the Physically Disabled in South Africa. Three females and seven males, between the ages of 26 and 43 years, took part in the research. The participants had all suffered penetrative damage to the spinal cord in the thoracic region as a result of violence related gunshot injury, and are therefore classified as having paraplegia The participants' gunshot injuries had been sustained in incidents ranging from attempted hijacking and armed robbery, to being caught in crime-related crossfire. In-depth interviews were conducted with the participants. A narrative approach was used to examine participants' unique stories, utilising a systematic form of narrative analysis. The thesis consists of three articles, namely 1) The subjective experience of psychotherapeutic interventions in the rehabilitation of persons paralysed as a result of violence-related gunshot injuries; 2) Making sense of paraplegia caused by violence-related gunshot injury; and 3) Therapeutic guidelines for the management of persons paralysed as a result of violence-related gunshot injuries. The findings of article 1 reveal that paraplegic persons had both positive and negative experiences during their hospital rehabilitation. Ultimately, however, positive experiences compensated for negative experiences. This suggests that in the absence of psychotherapeutic interventions, psychosocial adjustment may possibly not be facilitated. The second article indicates that although several barriers prevented participants from making sense of their trauma, meaningful relationships, spiritual growth and a greater appreciation of the value of life were still possible. in the final article guidelines were put forward that include meeting the holistic and adjustment needs of paraplegic persons. Future research is suggested and limitations acknowledged.
Thesis (Ph.D. (Psychology))--North-West University, Potchefstroom Campus, 2006.

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44

Sohail, Anood. "Visualizing roles of spastic paraplegia proteins in organizing axonal ER in live Drosophila." Thesis, University of Cambridge, 2019. https://www.repository.cam.ac.uk/handle/1810/290113.

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Axons possess a continuous network of smooth tubular endoplasmic reticulum (ER), extending from the nuclear envelope throughout the neuron to synapses. Mutations affecting proteins with intramembrane hairpin domains that model tubular ER membrane can lead to the axon degenerative disease, hereditary spastic paraplegia (HSP). However, the extent and mechanisms by which HSP proteins contribute to axonal ER organization and dynamics are unclear. To understand these mechanisms, there is a need to visualize axonal ER in wild-type and mutant live axons. I have therefore aimed to develop these tools in Drosophila larvae and adults, and use them to visualize mutant phenotypes. Firstly, I developed a system to visualize fluorescently marked ER in individual axons in adult fly legs, and tested how this can be used to investigate the effects of loss of intramembrane hairpin HSP proteins on ER in adult legs. Secondly, known mutations affecting HSP hairpin proteins reduce the axonal ER network but not severely; I hypothesized that additional HSP ER membrane proteins might contribute to residual tubule formation; these include Arl6IP, also reported to promote ER tubule formation. I generated transgenic flies to overexpress a fluorescently tagged eGFP::Arl6IP1, and found that this fusion protein localizes within axonal ER. To study whether loss of Arl6IP1 function affects axonal ER, I tested the effects of knockdown on this compartment, but found no consistent effects. To achieve stronger loss of function, I also generated a mutant stock that lacked one of the transmembrane domains and showed a slight developmental delay in homozygous Drosophila larvae. Like mutations in a number of other HSP hairpin proteins, this lesion is homozygous viable, and further characterization of its phenotype will help elucidate how Arl6IP1 contributes to modeling the axonal ER network. In conclusion, my work shows the utility of GFP markers of axonal ER, it can facilitate faster screening for other genes that potentially regulate ER structure and for ageing phenotypes that are not apparent in larval stages, and suggests Arl6IP1 as another HSP protein with a role in axonal ER organization.

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Cavalcante, Karenine Maria Holanda. "Cuidado de enfermagem Ã pessoa com paraplegia fundamentado no modelo Roper-Logan-Tierney." Universidade Federal do CearÃ, 2007. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=976.

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CoordenaÃÃo de AperfeiÃoamento de Pessoal de NÃvel Superior
O Traumatismo Raquimedular (TRM) Ã uma das principais causas de seqÃelas graves em paciente politraumatizado. ApÃs qualquer tipo de lesÃo raquimedular, a pessoa precisa enfrentar um processo de reabilitaÃÃo detalhado para que possa readquirir a capacidade de realizar suas atividades de vida, e viver de maneira independente. Este estudo teve como objetivo analisar a eficÃcia do cuidado de enfermagem fundamentado no Modelo de Enfermagem Roper-Logan-Tierney prestado a pessoas com lesÃo medular, bem como, conhecer a contribuiÃÃo da utilizaÃÃo de um modelo teÃrico para o cuidado direcionado a pessoas com lesÃo medular no domicÃlio. Trata-se de um estudo com abordagem qualitativa do tipo pesquisa de campo convergente-assistencial. Participaram do estudo trÃs pessoas (duas mulheres e um homem) com lesÃo raquimedular do tipo paraplegia, que estÃo incluÃdos no cadastro feito com os participantes das pesquisas realizadas pelo NÃcleo de Pesquisa e ExtensÃo em Enfermagem NeurolÃgica. O processo de investigar-cuidar se deu por meio de 10 visitas domiciliares (por sujeito), sendo os encontros fundamentados no Modelo de Enfermagem Roper-Logan-Tierney, utilizando o instrumento proposto pelas autoras, por meio do qual se abordou e identificou o desempenho das atividades de vida, destacando os problemas reais e potenciais, para ser traÃado o plano de cuidados e serem realizadas as intervenÃÃes necessÃrias, mantendo a constante avaliaÃÃo das respostas dos sujeitos. Para a obtenÃÃo das informaÃÃes foram utilizadas a observaÃÃo participante, a entrevista informal e a entrevista estruturada. No desenvolvimento dos processos assistenciais foram utilizados diagnÃsticos de enfermagem, NANDA, resultados de enfermagem, NOC, e intervenÃÃes de enfermagem, NIC. ApÃs detalhada sÃntese dos dados, foi dado significado a alguns achados provenientes do desempenho das atividades de vida pelos portadores de paraplegia, buscando contextualizÃ-los para uma ampliaÃÃo para a prÃtica assistencial dirigida a essa clientela. Com a anÃlise do comportamento dos trÃs sujeitos, o estudo mostra que a maior barreira para a efetividade do cuidado proposto Ã a dificuldade para mudanÃa de hÃbitos; entretanto, com a persistÃncia e a utilizaÃÃo de esclarecimentos e informaÃÃes necessÃrias obtÃm-se importantes resultados. Assim, ressalta-se a necessidade da promoÃÃo da auto-responsabilizaÃÃo da saÃde, para fortalecer a busca por mudanÃas de condutas. A utilizaÃÃo do modelo teÃrico Roper-Logan-Tierney no cuidado domiciliar, direcionado a esses portadores de paraplegia, contribuiu intensamente para a aquisiÃÃo do conhecimento sobre comportamentos e crenÃas em relaÃÃo a cada atividade de vida para que, diante disso, fosse feito o planejamento e implementado o cuidado. Com isso, o processo assistencial deixa de ser generalizado e passa a ser individualizado, trazendo melhores resultados. Foi possÃvel constatar a eficÃcia deste processo de investigar-cuidar, uma vez que foi notÃrio o benefÃcio resultante, por meio da conquista de maior independÃncia e capacidade de solucionar problemas pelos participantes do estudo e seus familiares. AlÃm disso, a utilizaÃÃo de um modelo teÃrico para o cuidado direcionado a pessoas com lesÃo medular no domicÃlio trouxe importantes contribuiÃÃes: proporcionou a sistematizaÃÃo da assistÃncia, facilitando a abordagem ao paraplÃgico e seu cotidiano e a eficÃcia do processo de cuidar proposto pela pesquisa; e promoveu uma fundamentaÃÃo teÃrica consistente para o desenvolvimento do cuidado.
The Spinal Cord Injury (SCI) is one of the main causes of serious sequels in trauma patient. After any type of spinal cord injury, the person will need to face a detailed process of rehabilitation, to reacquire the capacity to do its activities of life, and to live in independent way. The aim of this study was to analyze the effectiveness of the nursing care based on the Model of Nursing Roper-Logan-Tierney to people with spinal cord injury, as well as, knowing the contribution of the use of a theoretical model for the care directed to people with SCI in their home. It is a convergent-assistencial research. The participants of the study had been three people, two women and a man, with paraplegia, which are enclosed in a cadastre of participants of researches made by NUPEN. The process of investigating and taking care happened by means of 10 domiciliary visits (for each participant). The meetings were based on the Model of Nursing Roper-Logan-Tierney, using the instrument considered by the authors, in which it was approached and identified the performance of the activities of life, detaching the real and potential problems to be drawn the plan of cares up and to be done the necessary interventions, keeping the constant evaluation. The participant observation, the informal interview and the structuralized interview had been used for getting the information. In the development of the care process, it had been used nursing diagnosis, NANDA, nursing outcomes, NOC, and nursing interventions, NIC. After sum up in detail the data, I tried to give meaning to some information about the performance of the activities of life, trying to contextualize them for expanding for the care directed to people with spinal cord injury. When I was analyzing the behavior of the three participant of the study, I understood that the biggest barrier for the effectiveness of the considered care is the difficulty for change habits; however, with the persistence and the use of clarifications and necessary information important results are gotten. Therefore, I point out the importance of the promotion of the self-responsibility for health, to fortify the search for changes in behaviors. The use of the theoretical model Roper-Logan-Tierney in the domiciliary care directed to these clients contributed intensely for the acquisition of the knowledge about behaviors and beliefs related to each activity of life and up against this, planning and implementing the care. So, the care process leaves of being generalized and becomes individualized, causing better results. It was possible to detect the effectiveness of this process of investigating and taking care, once it was well-known the resultant benefit, by means of the conquest of more independence and more ability to solve problems for the participants of the study and its family. Moreover, the use of a theoretical model for the care directed to people with spinal cord injury in home brought important contributions: it provided the systematization for the assistance, facilitating the approach to the person with paraplegia and its daily and effectiveness of the process of taking care considered for the research; and promoted a consistent theoretical basis for the development of the care.

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Guimarães, Juliana Araújo. "Responsividade aos parâmetros de eletroestimulação dos músculos paralisados para o ciclismo na paraplegia." reponame:Repositório Institucional da UnB, 2017. http://repositorio.unb.br/handle/10482/31553.

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Dissertação (mestrado)—Universidade de Brasília, Faculdade de Ceilândia, Programa de Pós-Graduação em Ciências e Tecnologias em Saúde, 2017.
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Fundação de Apoio à Pesquisa do Distrito Federal (FAP-DF); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq); Associação de Centro de Treinamento de Educação Física Especial (CETEFE).
Introdução: É imperativo o desenvolvimento de tecnologias assistivas que possibilitem a pessoas com lesão medular a realização de exercícios físicos em intensidade suficiente para prevenir complicações relacionadas a inatividade física e proporcionar modificações positivas no estado de saúde. Objetivos: Nesse sentido, este estudo observacional investigou a responsividade e características dessa responsividade à eletroestimulação por parâmetros pré-estabelecidos (comumente aplicados na prática da FES), reconhecendo assim alguns requisitos para a prática de ciclismo assistido por eletroestimulação. Métodos: Quatorze pessoas com lesão medular foram avaliadas quanto as possíveis variáveis preditoras de responsividade a eletroestimulação: fatores pessoais, aspectos relacionados à condição de saúde, características estruturais e funcionais, variáveis de estabilidade hemodinâmica, assim como atividade e participação. Resultados e Discussão: Observamos uma variedade de respostas (entre contração equivalente a grau 1/5 e grau 4/5 na escala MRC) relacionada aos diferentes níveis e completudes da lesão medular encontradas nessa amostra. O nível de lesão acima de T12 e a etiologia traumática seriam fatores preditores do sucesso da responsividade por parâmetros pré-definidos para a estimulação elétrica funcional. Ao acompanhar a responsividade à eletroestimulação em sessões repetidas para os participantes que não foram responsivos na sessão inicial, levantamos como características que poderiam favorecer tal responsividade: a preservação parcial das raízes periféricas abaixo do nível de lesão e a preservação de um nível de trofismo muscular que possibilite ainda a reorganização do aparato de excitação-contração. Conclusão: é possível que os pacientes classificados como não responsivos sejam falsos negativos em função do emprego de parâmetros inadequados. Recomendamos que estudos eletrodiagnósticos sejam utilizados para a eleição individual dos melhores parâmetros de eletroestimulação.
Muscular paralysis, autonomic alterations, and secondary complications from immobility make physical activity and sport a challenge for people with spinal cord injury. The few existing options are activities that require the upper limbs, often overwhelmed in everyday activities such as locomotion and transfers. Often the practice of the activity requires the use of equipment and specialized professional that, when available, usually have a high financial cost. In this context, people with spinal cord injury continues to be the most inactive part of society and, as a consequence, it presents lower life expectancy and high rates of early mortality due to cardiovascular and respiratory complications, as well as high rates of hospitalization. For these reasons, it is imperative to develop assistive technologies that enable people with spinal cord injury to perform physical exercises at sufficient intensity to prevent complications related to physical inactivity. And, in addition, provide positive changes in health status, based on the reflections on fundamental concepts to identify the well-being of a human being, based on the most current models of health care and classification of health-related information. This study has an observational methodological basis designed to meet each of the specific objectives set to achieve the general objective of this proposal, which was to investigate the responsiveness and characteristics of this responsiveness to the electrical stimulation by pre-established parameters (commonly applied in FES practice), recognizing thus some requirements for the practice of cycling assisted by electrostimulation. Fourteen people participated in the protocol in a sample predominantly formed by young adult women with spinal cord injury, living for more than two years with the condition of paraplegia. The patients were evaluated as the variables selected by us as possible predictors of electrostimulation responsiveness that were organized by: personal factors (age and gender); by aspects related to the health condition (chronicity, cause of injury, level and completeness of the injury); by structural and functional characteristics identified by the American Spinal Injury Association, known as ASIA Impairment Scale (AIS), as well as Body Mass Index (BMI), lower limb perimeters, thoracic cirtometry, of hemodynamic stability (blood pressure and XV heart rate), as well as the activity and participation quantified by the amount of sports practiced and Functional Independence Measure. During the application of the protocol, we observed a variety of responses (between contractions sketches equivalents to grade 1/5 to stronger contractions, equivalent to grade 4/5 on the MRC scale) related to the different levels and complements of the spinal cord injury found in this sample. We found suggestive results that the level of injury above T12 and the traumatic etiology of the lesion would be factors that could predict the success of electrostimulation responsiveness by predefined parameters for functional electrical stimulation. When monitoring the responsiveness to electrostimulation in repeated sessions for participants who were not responsive to electrostimulation in the initial session, we pointed as characteristics that could favor such responsiveness: partial preservation of the peripheral roots below the level of injury and the preservation of a level of trophism muscle that allows the reorganization of the excitation-contraction apparatus.

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47

Wali, Gautam. "A Patient-Derived Stem Cell Model of Hereditary Spastic Paraplegia with SPAST mutations." Thesis, Griffith University, 2016. http://hdl.handle.net/10072/367152.

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Hereditary spastic paraplegia (HSP) is an inherited neurological disorder characterised by degeneration of long axons along the corticospinal tract, leading to lower limb spasticity and gait abnormalities. The mechanisms underlying HSP mutations that lead to degeneration of the long axons are unclear. Mutations in the SPAST gene account for the largest group of adult-onset HSP patients. In this thesis, I evaluated olfactory-neurosphere derived (ONS) cells, a population of neural progenitor cells, derived from biopsies of the olfactory mucosa from HSP patients and from healthy controls, in order to identify cell functions altered in HSP. The patient donors carried different SPAST mutations that included c.1413+3_1413+6del, p.E464D; c.1392 A>T, p.L195V; c.583C>G, p.E366K); c.1096G>A. SPAST encodes for spastin, a microtubule severing protein. Previous work has shown that patient ONS cells have reduced levels of spastin, dysregulation in gene expression of genes associated with microtubule dynamics, reduced levels of acetylated -tubulin (a measure of stable microtubules) and abnormal intracellular distribution of peroxisomes and mitochondria.
Thesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Natural Sciences
Science, Environment, Engineering and Technology
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48

Cavalcante, Karenine Maria Holanda. "Cuidado de enfermagem à pessoa com paraplegia fundamentado no modelo Roper-Logan-Tierney." reponame:Repositório Institucional da UFC, 2007. http://www.repositorio.ufc.br/handle/riufc/1784.

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CAVALCANTE, Karenine Maria Holanda. Cuidado de enfermagem à pessoa com paraplegia fundamentado no modelo Roper-Logan-Tierney. 2007. 217 f. Dissertação (Mestrado em Enfermagem) - Universidade Federal do Ceará. Faculdade de Farmácia, Odontologia e Enfermagem, Fortaleza, 2007.
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The Spinal Cord Injury (SCI) is one of the main causes of serious sequels in trauma patient. After any type of spinal cord injury, the person will need to face a detailed process of rehabilitation, to reacquire the capacity to do its activities of life, and to live in independent way. The aim of this study was to analyze the effectiveness of the nursing care based on the Model of Nursing Roper-Logan-Tierney to people with spinal cord injury, as well as, knowing the contribution of the use of a theoretical model for the care directed to people with SCI in their home. It is a convergent-assistencial research. The participants of the study had been three people, two women and a man, with paraplegia, which are enclosed in a cadastre of participants of researches made by NUPEN. The process of investigating and taking care happened by means of 10 domiciliary visits (for each participant). The meetings were based on the Model of Nursing Roper-Logan-Tierney, using the instrument considered by the authors, in which it was approached and identified the performance of the activities of life, detaching the real and potential problems to be drawn the plan of cares up and to be done the necessary interventions, keeping the constant evaluation. The participant observation, the informal interview and the structuralized interview had been used for getting the information. In the development of the care process, it had been used nursing diagnosis, NANDA, nursing outcomes, NOC, and nursing interventions, NIC. After sum up in detail the data, I tried to give meaning to some information about the performance of the activities of life, trying to contextualize them for expanding for the care directed to people with spinal cord injury. When I was analyzing the behavior of the three participant of the study, I understood that the biggest barrier for the effectiveness of the considered care is the difficulty for change habits; however, with the persistence and the use of clarifications and necessary information important results are gotten. Therefore, I point out the importance of the promotion of the self-responsibility for health, to fortify the search for changes in behaviors. The use of the theoretical model Roper-Logan-Tierney in the domiciliary care directed to these clients contributed intensely for the acquisition of the knowledge about behaviors and beliefs related to each activity of life and up against this, planning and implementing the care. So, the care process leaves of being generalized and becomes individualized, causing better results. It was possible to detect the effectiveness of this process of investigating and taking care, once it was well-known the resultant benefit, by means of the conquest of more independence and more ability to solve problems for the participants of the study and its family. Moreover, the use of a theoretical model for the care directed to people with spinal cord injury in home brought important contributions: it provided the systematization for the assistance, facilitating the approach to the person with paraplegia and its daily and effectiveness of the process of taking care considered for the research; and promoted a consistent theoretical basis for the development of the care.
O Traumatismo Raquimedular (TRM) é uma das principais causas de seqüelas graves em paciente politraumatizado. Após qualquer tipo de lesão raquimedular, a pessoa precisa enfrentar um processo de reabilitação detalhado para que possa readquirir a capacidade de realizar suas atividades de vida, e viver de maneira independente. Este estudo teve como objetivo analisar a eficácia do cuidado de enfermagem fundamentado no Modelo de Enfermagem Roper-Logan-Tierney prestado a pessoas com lesão medular, bem como, conhecer a contribuição da utilização de um modelo teórico para o cuidado direcionado a pessoas com lesão medular no domicílio. Trata-se de um estudo com abordagem qualitativa do tipo pesquisa de campo convergente-assistencial. Participaram do estudo três pessoas (duas mulheres e um homem) com lesão raquimedular do tipo paraplegia, que estão incluídos no cadastro feito com os participantes das pesquisas realizadas pelo Núcleo de Pesquisa e Extensão em Enfermagem Neurológica. O processo de investigar-cuidar se deu por meio de 10 visitas domiciliares (por sujeito), sendo os encontros fundamentados no Modelo de Enfermagem Roper-Logan-Tierney, utilizando o instrumento proposto pelas autoras, por meio do qual se abordou e identificou o desempenho das atividades de vida, destacando os problemas reais e potenciais, para ser traçado o plano de cuidados e serem realizadas as intervenções necessárias, mantendo a constante avaliação das respostas dos sujeitos. Para a obtenção das informações foram utilizadas a observação participante, a entrevista informal e a entrevista estruturada. No desenvolvimento dos processos assistenciais foram utilizados diagnósticos de enfermagem, NANDA, resultados de enfermagem, NOC, e intervenções de enfermagem, NIC. Após detalhada síntese dos dados, foi dado significado a alguns achados provenientes do desempenho das atividades de vida pelos portadores de paraplegia, buscando contextualizá-los para uma ampliação para a prática assistencial dirigida a essa clientela. Com a análise do comportamento dos três sujeitos, o estudo mostra que a maior barreira para a efetividade do cuidado proposto é a dificuldade para mudança de hábitos; entretanto, com a persistência e a utilização de esclarecimentos e informações necessárias obtêm-se importantes resultados. Assim, ressalta-se a necessidade da promoção da auto-responsabilização da saúde, para fortalecer a busca por mudanças de condutas. A utilização do modelo teórico Roper-Logan-Tierney no cuidado domiciliar, direcionado a esses portadores de paraplegia, contribuiu intensamente para a aquisição do conhecimento sobre comportamentos e crenças em relação a cada atividade de vida para que, diante disso, fosse feito o planejamento e implementado o cuidado. Com isso, o processo assistencial deixa de ser generalizado e passa a ser individualizado, trazendo melhores resultados. Foi possível constatar a eficácia deste processo de investigar-cuidar, uma vez que foi notório o benefício resultante, por meio da conquista de maior independência e capacidade de solucionar problemas pelos participantes do estudo e seus familiares. Além disso, a utilização de um modelo teórico para o cuidado direcionado a pessoas com lesão medular no domicílio trouxe importantes contribuições: proporcionou a sistematização da assistência, facilitando a abordagem ao paraplégico e seu cotidiano e a eficácia do processo de cuidar proposto pela pesquisa; e promoveu uma fundamentação teórica consistente para o desenvolvimento do cuidado.

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49

Ozimek, Elicia N. "The effect of body weight support treadmill training on paretic leg contribution in hemiparetic walking in persons with chronic stroke." Muncie, Ind. : Ball State University, 2009. http://cardinalscholar.bsu.edu/435.

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50

Henn, M. J., Gubela Mji, and Surona Visagie. "Evaluation of the rehabilitation program for persons with complete paraplegia at Netcare rehabilitation hospital." Thesis, Stellenbosch : University of Stellenbosch, 2009. http://hdl.handle.net/10019.1/5772.

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Thesis (MSc (Interdisciplinary Health Sciences. Speech-Language and Hearing Therapy))--University of Stellenbosch, 2009.
ENGLISH ABSTRACT: Spinal cord injury is a devastating sudden cause of disability which renders a person paralyzed and dependent on care immediately after the incident. A person who has suffered a spinal cord injury requires an intensive rehabilitation program to achieve physical independence as well as reintegration into the community. The aim of this study was to evaluate the rehabilitation program for patients with complete paraplegia at the Netcare Rehabilitation Hospital, a 120 bed private rehabilitation facility in Johannesburg, where rehabilitation for patients with physical disabilities is offered by an interdisciplinary team. The rehabilitation program was evaluated in terms of effectiveness including the degree of physical independence the patients achieved and how well the program prepared patients for successful integration into the community. The Functional Independence Measure (FIM), a standardized outcome measure that measures certain physical and cognitive functions and the Needs Assessment Checklist (NAC), an instrument designed to assess if the rehabilitation program is geared towards the patients’ individual needs were used as outcome measure. FIM scores were determined on admission and discharge and NAC scores were determined at discharge. A convenient, consecutive sample of sixteen patients with complete paraplegia (ASIA A), with a neurological level between T1 and T12, formed the study population. Consistently high FIM and NAC scores in the area of physical functioning suggested that the rehabilitation program at Netcare Rehabilitation Hospital was effective in terms of providing patients with physical independence. However, NAC results showed that the patients were not completely ready to reintegrate back to their communities. Areas that were identified as particularly problematic were knowledge on follow up health care services in the community, readiness for work and accessibility of the home and work environments. Therefore it is recommended that the rehabilitation team re-evaluate the program and incorporate strategies with the aim to improve it’s effectiveness in terms of preparing patients for community reintegration. It is also recommended that further research is conducted to assess the current success rate with regards to community reintegration and determine challenges to re-integration in order to assist with program panning.
AFRIKAANSE OPSOMMING: ‘n Spinaalkoordbesering is ‘n skielike oorsaak van gestremdheid wat die persoon verlam en afhanklik van sorg laat direk na die voorval. ‘n Persoon wat ‘n spinalkoordbesering opdoen benodig ‘n intensiewe rehabilitasie program om weer fisies onafhanklik te wees en ook om hom/haar voor te berei om weer by die gemeenskap in te skakel. Die doel van hierdie studie was om die rehabilitasie program by die Netcare Rehabilitasie Hospitaal, ‘n 120 bed private rehabilitasie fasiliteit in Johannesburg, waar rehabilitasie vir fisies gestremde persone deur ‘n interdissiplinere span aangebied word, te evalueer. Die program is geevalueer in terme van twee uitkomste naamlik, die graad van fisiese onafhanklikheid wat die pasiënte behaal en tot watter mate die program pasiente voorberei vir herintegrasie in die gemeenskap Die “Functional Independence Measure” (FIM), ‘n gestandaardiseerde uitkoms skaal wat sekere fisiese en kognitiewe funksies meet en die “Needs Assessment Checklist” (NAC), `n instrument wat ontwikkel is om te evalueer of rehabilitasie programme pasiente se spesifieke behoeftes aanspreek. Is gebruik om the rehabilitasie program te evalueer. Die FIM is met toelating en ontslag voltooi en die NAC is met ontslag voltooi. ‘n Steekproef van sestien pasiente met volledige spinaalkoordletsels (ASIA A) tussen T1 en T12 het die studie populasie gevorm. Deurgans hoë FIM en NAC tellings vir fisiese funksionering het daarop gedui dat die rehabilitasie program by die Netcare Rehabilitation Hospital effektief is in terme van fisiese onafhanklikheid van pasiente. Aan die ander kant het die NAC tellings daarop gedui dat die program minder suksesvol is wat betref die voorbereiding van pasiente vir gemeeskapsintegrasie. Spesifieke probleem areas sluit in kennis van waar om opvolg gesondheidssorg in die gemeenskap te bekom, gereedheid vir werk en toeganklikheid van die huis en werksomgewing. Daar word aanbeveel dat die rehabilitasie span by Netcare Rehabilitasie Hospitaal die program herevalueer om die effektiwiteit van die program in terme van die voorbereiding vir gemeenskaps herintegrasie te verbeter. Dit word ook aanbeveel dat ‘n opvolg studie gedoen word om die huidige sukses ten opsigte van gemeenskaps herintegrasie te evalueer en sruikelblokke te identifiseer ten einde die span the help met program beplanning.

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Dissertations / Theses on the topic 'Paraplegia'

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