Academic literature on the topic 'Paraplegin'

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Journal articles on the topic "Paraplegin"

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Atorino, Luigia, Laura Silvestri, Mirko Koppen, Laura Cassina, Andrea Ballabio, Roberto Marconi, Thomas Langer, and Giorgio Casari. "Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia." Journal of Cell Biology 163, no. 4 (November 17, 2003): 777–87. http://dx.doi.org/10.1083/jcb.200304112.

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Mmutations in paraplegin, a putative mitochondrial metallopeptidase of the AAA family, cause an autosomal recessive form of hereditary spastic paraplegia (HSP). Here, we analyze the function of paraplegin at the cellular level and characterize the phenotypic defects of HSP patients' cells lacking this protein. We demonstrate that paraplegin coassembles with a homologous protein, AFG3L2, in the mitochondrial inner membrane. These two proteins form a high molecular mass complex, which we show to be aberrant in HSP fibroblasts. The loss of this complex causes a reduced complex I activity in mitochondria and an increased sensitivity to oxidant stress, which can both be rescued by exogenous expression of wild-type paraplegin. Furthermore, complementation studies in yeast demonstrate functional conservation of the human paraplegin–AFG3L2 complex with the yeast m-AAA protease and assign proteolytic activity to this structure. These results shed new light on the molecular pathogenesis of HSP and functionally link AFG3L2 to this neurodegenerative disease.
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Koppen, Mirko, Metodi D. Metodiev, Giorgio Casari, Elena I. Rugarli, and Thomas Langer. "Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia." Molecular and Cellular Biology 27, no. 2 (November 13, 2006): 758–67. http://dx.doi.org/10.1128/mcb.01470-06.

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ABSTRACT The m-AAA protease, an ATP-dependent proteolytic complex in the mitochondrial inner membrane, controls protein quality and regulates ribosome assembly, thus exerting essential housekeeping functions within mitochondria. Mutations in the m-AAA protease subunit paraplegin cause axonal degeneration in hereditary spastic paraplegia (HSP), but the basis for the unexpected tissue specificity is not understood. Paraplegin assembles with homologous Afg3l2 subunits into hetero-oligomeric complexes which can substitute for yeast m-AAA proteases, demonstrating functional conservation. The function of a third paralogue, Afg3l1 expressed in mouse, is unknown. Here, we analyze the assembly of paraplegin into m-AAA complexes and monitor consequences of paraplegin deficiency in HSP fibroblasts and in a mouse model for HSP. Our findings reveal variability in the assembly of m-AAA proteases in mitochondria in different tissues. Homo-oligomeric Afg3l1 and Afg3l2 complexes and hetero-oligomeric assemblies of both proteins with paraplegin can be formed. Yeast complementation studies demonstrate the proteolytic activity of these assemblies. Paraplegin deficiency in HSP does not result in the loss of m-AAA protease activity in brain mitochondria. Rather, homo-oligomeric Afg3l2 complexes accumulate, and these complexes can substitute for housekeeping functions of paraplegin-containing m-AAA complexes. We therefore propose that the formation of m-AAA proteases with altered substrate specificities leads to axonal degeneration in HSP.
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Akhtar, Ammara, Sobia Nazir Choudhry, Rana Muhammad Mateen, and Mureed Hussain. "Genetics A Comprehensive In Silico Analysis of Deleterious SNPs of Paraplegin Protein Associated with Hereditary Spastic Paraplegia through Mitochondrial Dysfunction." BioScientific Review 2, no. 2 (June 9, 2020): 1–14. http://dx.doi.org/10.32350/bsr.0202.01.

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Hereditary spastic paraplegia (HSP) is a heterogenous neurological disorder primarily associated with progressive spasticity. Paraplegin is a mitochondrial protein and mutations in this protein can lead to HSP. In this study, in silico analysis was carried out to identify the pathogenic variants of SPG7 (paraplegin protein). To find novel pathogenic mutations, missense and splicing variants were collected from gnomAD database and passed through a detailed and stringent analysis with the help of a variety of bioinformatic tools. The list of mutations was examined and compared in ClinVar. Altogether, 14 missense mutations and 18 splicing mutations were obtained and these mutations were predicted to have the potential of disrupting the normal structural and functional properties of paraplegin protein.
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Almomen, MM, KA Martens, A. Hanson, L. Korngut, and G. pfeffer. "P.071 Novel mutations in SPG7 identified from patients with late-onset spasticity." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (June 2018): S35. http://dx.doi.org/10.1017/cjn.2018.173.

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Background: Hereditary spastic paraplegia (HSP) is a group of genetic diseases that cause progressive degeneration of the corticospinal tract. Historically, this disease was divided into two types:the classic subtype, with leg weakness and hypertonic bladder, and the complicated subtype, with features such as cerebellar ataxia or optic atrophy.Mutations in SPG7 (encoding paraplegin) leads to complicated HSP causing cerebellar ataxia, progressive external ophthalmoplegia in addition to the classical symptoms. AFG3L2 is a binding partner of paraplegin and mutations in AFG3L2 cause a similar syndrome Methods: From a neurogenetic clinic , we identified 11 patients with late-onset HSP. Sequencing of SPG7 and AFG3L2 was performed using a customised assay, and/or clinical diagnostic sequencing panels.SPG7 transcript level quantification was performed from whole blood RNA on a digital droplet qPCR system. Results: We identified 4 patients with pathogenic variants or variants of unknown significance in SPG7. No AFG3L2 mutations were identified. We provide evidence for pathogenicity for three mutations that were not previously associated with SPG7-related disease, based on their occurrence in context of the correct phenotype, and the reduction of transcript levels measured with RT-qPCR.A curious association of the heterozygous p.Gly349Ser mutation in association with an ALS-like syndrome is reported. Conclusions:SPG7 mutations sequencing has high diagnostic yield in late onset paraparesis
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Elleuch, N., C. Depienne, A. Benomar, A. M. O. Hernandez, X. Ferrer, B. Fontaine, D. Grid, et al. "Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia." Neurology 66, no. 5 (March 13, 2006): 654–59. http://dx.doi.org/10.1212/01.wnl.0000201185.91110.15.

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Gelbard, Harris A. "Synapses and Sisyphus: life without paraplegin." Journal of Clinical Investigation 113, no. 2 (January 15, 2004): 185–87. http://dx.doi.org/10.1172/jci20783.

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Gelbard, H. A. "Synapses and Sisyphus: life without paraplegin." Journal of Clinical Investigation 113, no. 2 (January 15, 2004): 185–87. http://dx.doi.org/10.1172/jci200420783.

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Duvezin-Caubet, Stéphane, Mirko Koppen, Johannes Wagener, Michael Zick, Lars Israel, Andrea Bernacchia, Ravi Jagasia, et al. "OPA1 Processing Reconstituted in Yeast Depends on the Subunit Composition of the m-AAA Protease in Mitochondria." Molecular Biology of the Cell 18, no. 9 (September 2007): 3582–90. http://dx.doi.org/10.1091/mbc.e07-02-0164.

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The morphology of mitochondria in mammalian cells is regulated by proteolytic cleavage of OPA1, a dynamin-like GTPase of the mitochondrial inner membrane. The mitochondrial rhomboid protease PARL, and paraplegin, a subunit of the ATP-dependent m-AAA protease, were proposed to be involved in this process. Here, we characterized individual OPA1 isoforms by mass spectrometry, and we reconstituted their processing in yeast to identify proteases involved in OPA1 cleavage. The yeast homologue of OPA1, Mgm1, was processed both by PARL and its yeast homologue Pcp1. Neither of these rhomboid proteases cleaved OPA1. The formation of small OPA1 isoforms was impaired in yeast cells lacking the m-AAA protease subunits Yta10 and Yta12 and was restored upon expression of murine or human m-AAA proteases. OPA1 processing depended on the subunit composition of mammalian m-AAA proteases. Homo-oligomeric m-AAA protease complexes composed of murine Afg3l1, Afg3l2, or human AFG3L2 subunits cleaved OPA1 with higher efficiency than paraplegin-containing m-AAA proteases. OPA1 processing proceeded normally in murine cell lines lacking paraplegin or PARL. Our results provide evidence for different substrate specificities of m-AAA proteases composed of different subunits and reveal a striking evolutionary switch of proteases involved in the proteolytic processing of dynamin-like GTPases in mitochondria.
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Pirozzi, M. "Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia." Journal of Clinical Investigation 116, no. 1 (December 8, 2005): 202–8. http://dx.doi.org/10.1172/jci26210.

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Pirozzi, Marinella, Angelo Quattrini, Gennaro Andolfi, Giorgia Dina, Maria Chiara Malaguti, Alberto Auricchio, and Elena I. Rugarli. "Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia." Journal of Clinical Investigation 124, no. 2 (February 3, 2014): 871. http://dx.doi.org/10.1172/jci75082.

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Dissertations / Theses on the topic "Paraplegin"

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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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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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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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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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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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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, hà 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 hà 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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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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STRAPPAVECCIA, Silvia. "IMPIANTO AUTOLOGO DI CELLULE STAMINALI NOM (NASAL OLFACTORY MUCOSA) IN CANI PARAPLEGICI CRONICI [AUTOLOGOUS IMPLANT OF NASAL OLFACTORY MUCOSA (NOM) STEM CELLS IN CHRONIC PARAPLEGIC DOGS]." Doctoral thesis, Università degli Studi di Camerino, 2007. http://hdl.handle.net/11581/401897.

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La terapia delle lesioni spinali croniche dell'uomo rappresenta attualmente uno dei maggiori campi di interesse della ricerca scientifica. Tra le strategie sperimentali di ultima elaborazione, il trapianto di cellule staminali sta dimostrando notevoli potenzialita'  per la cura di molte patologie del SNC. I modelli animali principalmente utilizzati per gli studi sperimentali sono i ratti, ma le dimensioni del midollo spinale in questa specie sono estremamente diverse da quelle dell'uomo, e le condizioni di laboratorio in cui i protocolli sperimentali vengono applicati sono molto differenti dalle condizioni accidentali delle lesioni umane. Il trauma spinale e' un'evenienza piuttosto frequente nel cane, ma molto spesso la terapia non viene effettuata precocemente o e' inefficace, cosi' da portare ad una condizione di paraplegia cronica. In questa specie l'eziopatogenesi delle lesioni e le dimensioni del midollo sono simili a quelle dell'uomo. Per tali ragioni il cane rappresenta un buon modello per lo studio delle terapie sperimentali nelle lesioni spinali croniche. Lo scopo del presente lavoro e' quello di verificare se l'impianto autologo di cellule staminali adulte di natura olfattoria sia in grado di ripristinare la deambulazione volontaria in cani paraplegici cronici. Sono stati inclusi nello studio 6 soggetti sottoposti alla nostra attenzione tra gennaio 2004 e dicembre 2005 per l'insorgenza di un grave trauma spinale compreso tra le vertebre T4 e L3. Trascorsi almeno due mesi dall'insorgenza della paraplegia, in ciascun cane e' stato effettuato il prelievo bioptico della mucosa nasale. Il campione e' stato quindi inviato nel laboratorio di riferimento, dove le cellule staminali sono state isolate e allestite su un apposito supporto. Nei mesi successivi tutti i 6 pazienti sono stati sottoposti all'impianto delle cellule autologhe, dopo esposizione chirurgica del segmento midollare leso e asportazione del tessuto cicatriziale. La fase post-operatoria e' stata dedicata all'esecuzione di intensi protocolli fisioterapici e di indagini cliniche e strumentali, finalizzate alla valutazione del recupero neurologico. I risultati ottenuti hanno evidenziato la presenza di un parziale ripristino delle capacita' deambulatorie in 3 soggetti, mentre i tracciati elettrofisiologici relativi ai Potenziali Evocati Somato-Sensoriali (PESS) non hanno subito alcuna variazione nel periodo successivo all'impianto. In un soggetto, deceduto spontaneamente per una patologia indipendente dalla condizione neurologica, e' stato possibile sottoporre il midollo spinale a valutazioni di tipo istologico e immunoistochimico. Queste hanno evidenziato la presenza, nel tratto midollare sede dell'impianto, di gruppi di neuroni-fibre dispersi all'interno di abbondante tessuto fibroso. Pur considerando l'esiguita' del numero dei soggetti inclusi nella ricerca, e in attesa di poter sottoporre ad indagini istologiche il midollo spinale di 5 di loro, si puo' concludere che l'impianto di cellule staminali di origine olfattoria nel midollo spinale di cani paraplegici cronici puo' presentare notevoli potenzialita' terapeutiche. The treatment of chronic spinal cord injuries in humans is, today, one of the most important fields of scientific research. Among the experimental strategies recently developed, stem cell transplants are demonstrating great potentiality for the cure of many central nervous system (CNS) pathologies. The most common animal models used in experimental studies are rats but the dimensions of the spinal cord of this species are quite different from those of the human, and the laboratory conditions in which the experimental protocols are applied do not resemble the accidental conditions of human injuries. Spinal cord injuries are relatively frequent in dogs but very often the therapy is not applied promptly or is not efficacious, and the result is a condition of chronic paraplegia. The etiopathogenesis of the injuries and the dimensions of the spine of the dog are similar to those of the human. For these reasons, the dog represents a good model for studying experimental treatment of chronic spinal cord injuries. The aim of this study is to verify whether the autologous implant of adult stem cells obtained from nasal olfactory mucosa (NOM) is able to restore voluntary ambulation in dogs with chronic paraplegia. This study concerns six subjects that we cared for between January 2004 and December 2005 after the onset of a serious spinal trauma in the area between the vertebrae T4 and L3. At least two months after the onset of paraplegia, a bioptic sample was taken from the nasal mucosa of each dog. The sample was sent to the reference laboratory where the stem cells were isolated and prepared on an appropriate scaffold. During the following months all six patients were subjected to the implant of autologous cells, after the surgical exposure of the injured segment of the spinal cord and the removal of scar tissue. The post-surgical phase was dedicated to intensive physiotherapy protocols and clinical and instrumental investigations, with the aim of evaluating the neurological recovery. The results obtained demonstrated the presence of a partial restoration of the ambulatory capacity in three subjects, while the electrophysiological pathways relative to the Somatosensory Evoked Potential (SSEPs) did not undergo any variation in the period following the implant. In the case of one dog, that died spontaneously from a pathology not connected with the neurological condition, it has been possible to carry out histological and immununohistochemical evaluations of the spinal cord. These have demonstrated the presence of groups of neuron-fibres dispersed inside abundant fibrous tissue in the area of the implant. While taking into consideration the small number of subjects included in the research and in anticipation of being able to subject the spinal cords of the other five dogs to histological investigations, we can nevertheless conclude that the implant of the stem cells of olfactory origin in the spinal cord of dogs with chronic paraplegia can offer outstanding therapeutic potential.
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Books on the topic "Paraplegin"

1

Between the lightning and the thunder. Eugene, Or: Harvest House Publishers, 1989.

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2

Declarations of independence: War zones and wheelchairs. London: Penguin Books, 1996.

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1937-, Rogers Michael A., ed. Living with paraplegia. London: Faber and Faber, 1986.

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Crowther, A. G. O. Lessons from a paraplegic. Sheffield: Audio Visual and Television Centre, University of Sheffield, 1988.

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Antonio, Pedotti, Ferrarin Maurizio, and Commission of the European Communities., eds. Restoration of walking for paraplegics: Recent advances and trends. Milano: Pro Juventute, 1992.

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Owuor, Esther. My life as a paraplegic. Nairobi: East African Educational Publishers, 1995.

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M, Bedbrook George, ed. Lifetime care of the paraplegic patient. Edinburgh [Scotland]: Churchill Livingstone, 1985.

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1909-, Kohn Kate H., ed. Functional electrical stimulation for ambulation by paraplegics: Twelve years of clinical observations and system studies. Malabar, Fla: Krieger Pub. Co., 1994.

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Tetraplegia and paraplegia: A guide for physiotherapists. 5th ed. Edinburgh: Churchill Livingstone, 1998.

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Bromley, Ida. Tetraplegia and paraplegia: A guide for physiotherapists. 4th ed. Edinburgh: Churchill Livingstone, 1991.

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Book chapters on the topic "Paraplegin"

1

Wilson, J. Frank, and Kevin Murray. "Paraplegia." In Practical Approaches to Cancer Invasion and Metastases, 16–17. Berlin, Heidelberg: Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-642-84885-8_4.

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Baker, Julien S., Fergal Grace, Lon Kilgore, David J. Smith, Stephen R. Norris, Andrew W. Gardner, Robert Ringseis, et al. "Paraplegia." In Encyclopedia of Exercise Medicine in Health and Disease, 690. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-540-29807-6_2834.

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Pearce, David A. "Paraplegin." In Handbook of Proteolytic Enzymes, 802–4. Elsevier, 2004. http://dx.doi.org/10.1016/b978-0-12-079611-3.50244-5.

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Pearce, David A., and Sergio Padilla-López. "Paraplegin." In Handbook of Proteolytic Enzymes, 706–9. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-12-382219-2.00148-4.

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"Paraplegin." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 1442. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_12303.

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Jesel, Michel. "35 Paraplegien Paraplegie zentrale Lähmung Paraplegie." In Neurologie für Physiotherapeuten. 3rd ed. Stuttgart: Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/b-0041-182486.

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"35 Paraplegien Paraplegien Paraplegien zentrale Lähmungen Paraplegien." In Neurologie für Physiotherapeuten, edited by Michel Jesel. Stuttgart: Georg Thieme Verlag, 2015. http://dx.doi.org/10.1055/b-0035-124080.

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"Autoren / Inhalt." In Paraplegie, I—XII. Basel: KARGER, 2005. http://dx.doi.org/10.1159/000088752.

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"Geschichte." In Paraplegie, 1–6. Basel: KARGER, 2005. http://dx.doi.org/10.1159/000088753.

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"Grundlagen." In Paraplegie, 7–20. Basel: KARGER, 2005. http://dx.doi.org/10.1159/000088754.

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Conference papers on the topic "Paraplegin"

1

Linder-Ganz, Eran, Noga Shabshin, Yacov Itzchak, Itzhak Siev-Ner, and Amit Gefen. "Peak Gluteal Muscle Strain and Stress Values During Sitting Are Greater in Paraplegics Than in Normals." In ASME 2007 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2007. http://dx.doi.org/10.1115/sbc2007-175941.

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Deep tissue injury (DTI) is a severe type of pressure ulcers affecting the viability of muscle tissue under bony prominences first [1]. Most researchers agree that prolonged elevated muscle tissue strains and stresses cause the onset of DTI. We recently showed that internal strain and stress distributions in muscle tissue of individuals can be evaluated by integrating Open-MRI examinations with subject-specific finite element (FE) analyses [2]. However, sub-dermal soft tissue strain and stress data from paraplegic wheelchair users are missing in the literature. Our present goals were therefore (i) to determine the strain and stress distributions in the gluteus muscles and enveloping fat under the ischial tuberosities (IT) of paraplegic wheelchair users during sitting and lying in an Open-MRI, (ii) to compare the paraplegic data to those obtained previously from normal subjects [2], and (iii) to compare between results obtained from paraplegics in the sitting and lying postures, in order to quantify the effect of posture on sub-dermal tissue mechanical conditions, particularly intramuscular shear stress.
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Strausser, Katherine A., Tim A. Swift, Adam B. Zoss, and H. Kazerooni. "Prototype Medical Exoskeleton for Paraplegic Mobility: First Experimental Results." In ASME 2010 Dynamic Systems and Control Conference. ASMEDC, 2010. http://dx.doi.org/10.1115/dscc2010-4261.

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Spinal cord injuries leave thousands of patients confined to wheelchairs, resulting in a life of severely limited mobility. This condition also subjects them to the risk of secondary injuries. Because exoskeletons are externally driven machines in which the actuation is coupled to the person’s joints, they offer an ideal method to help paraplegics walk. The exoskeleton presented here is a mobile, battery powered device that uses hydraulically actuated hip and knee joints in the sagittal plane to move a patient’s joints. The control strategy mimics standard human walking using foot sensors to determine the walking state. This activates position control of the joints to follow standard walking trajectories based on clinical gait analysis data. Initial patient testing of the device showed that the exoskeleton enabled one incomplete paraplegic to significantly improve his gait function and three complete paraplegic patients to walk.
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Paredes, Victor, and Ayonga Hereid. "Dynamic Locomotion of a Lower-Limb Exoskeleton Through Virtual Constraints Based ZMP Regulation." In ASME 2020 Dynamic Systems and Control Conference. American Society of Mechanical Engineers, 2020. http://dx.doi.org/10.1115/dscc2020-3170.

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Abstract Robotic lower-limb exoskeletons have the potentials to assist individuals with paraplegia to perform normal ambulatory functions and to provide exceptional health benefits. While modern-day hardware for exoskeletons is becoming more powerful, there are still significant challenges in implementing a practical exoskeleton motion control framework that helps paraplegic individuals to complete regular ambulatory tasks stably, safely, and efficiently without the use of arm-crutches. Inspired by the current development in dynamic walking controllers for a bipedal robot, this paper proposes a Hybrid Zero Dynamics (HZD) based control approach for powered lower-limb exoskeletons to achieve dynamic hand-free locomotion. Due to the unmodelled dynamics and exerted forces from the user upon the exoskeleton, the model-based approaches such as Hybrid Zero Dynamics struggles when implementing on the actual hardware. In this paper, we systematically formulate a virtual-constraints-based regulation framework in order to robustly stabilize the system around a stable periodic gait within the HZD framework. This regulator is then used to regulate the zero moment point (ZMP) to improve the lateral stability of the bipedal robot by indirectly regulating the center of mass (CoM) position of the exoskeleton due to the lack of available force sensors at the bottom of the feet. The proposed approach presents a general structure with which the virtual constraints can be heuristically regulated to satisfy the stability condition imposed by the ZMP criteria without compromising the hybrid invariance of the walking gaits. The effectiveness of the regulators was demonstrated through stable walking of a powered lower-limb exoskeleton in simulation and experimentation.
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Katti, Vikram, and William Durfee. "Preliminary Design and Testing of a Muscle-Powered Walking Exoskeleton for People With Spinal Cord Injury." In 2018 Design of Medical Devices Conference. American Society of Mechanical Engineers, 2018. http://dx.doi.org/10.1115/dmd2018-6889.

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There are 275,000 people in the US who have spinal cord injury (SCI) and there are about 12,500 new cases each year [1]. Among these 18.5% have incomplete paraplegia and 23% have complete paraplegia [1]. The number of patients experiencing mobility impairment caused by SCI is increasing because of accidents and disease [2,3]. Among people with SCI, 51% identified walking as first choice for a technology application [4].
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Britto, P., S. Sivarasu, and V. Rekha. "Conceptual design of a paraplegic walker." In 7th International Conference on Appropriate Healthcare Technologies for Developing Countries. Institution of Engineering and Technology, 2012. http://dx.doi.org/10.1049/cp.2012.1490.

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Braga, Vinícius Lopes, Wladimir Bocca Vieira de Rezende Pinto, Bruno de Mattos Lombardi Badia, José Marcos Vieira de Albuquerque Filho, Igor Braga Farias, Paulo Victor Sgobbi de Souza, and Acary Souza Bulle Oliveira. "Spastic paraplegia type 73: expanding phenotype of the first two Brazilian families." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.552.

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Context: Hereditary spastic paraplegias (HSPs) represent an expanding group of neurodegenerative diseases characterized mainly by progressive spastic paraparesis of the lower limbs. More than 80 different genetic loci have been associated with HSPs. In 2015, heterozygous pathogenic variants in the CPT1C gene were first associated with SPG73, not yet described in Brazilian patients. Objective: We present clinical, neuroimaging and genetic features of three Brazilian patients with SPG73. Cases reports: We report one male and two female patients, age range 36 to 78 years old. Case 1 presented with a 4-year-history of spasticity, predominantly crural tetraplegia, bladder incontinence, dysphagia and dysphonia. Family history disclosed a sister with epilepsy. Whole-exome sequencing (WES) disclosed a heterozygosis variant c.863G>A (p.Arg288His) in exon 9 of the CPT1C. Cases 2 and 3 are first degree relatives (mother and son). Both presented with long-standing slowly progressive spastic paraplegia. Case 3 presented bladder incontinence, constipation, dysphagia and dysphonia at late stages. Cases 2 and 3 WES disclosed the heterozygosis variant c.196T>G (p.Phe66Val) in exon 4 of the CPT1C. Discussion: Previous literature described six patients from an Italian family with pure HSPs phenotype and the pathogenic variant c.109C>G (p.Arg3. 7Cys) in CPT1C gene. Another group described three patients associated with pure HSPs phenotype and the pathogenic variant (c.226C>T) in the CPT1C gene. All previous reported cases had benign clinical course and bulbar involvement was not described before. One of our cases presented with a de novo variant and rapidly progressive motor and bulbar compromise. Conclusion: our cases expand the current knowledge about SPG73, including a rapidly progressive phenotype with bulbar involvement and cognitive compromise at late stages of disease course.
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Lazarin, Gabriela Bazzanella, and Eliane Pinheiro. "MODA INCLUSIVA: VESTUÁRIO PARA MULHERES COM PARAPLEGIA." In 16° Ergodesign – Congresso Internacional de Ergonomia e Usabilidade de Interfaces Humano Tecnológica. São Paulo: Editora Blucher, 2017. http://dx.doi.org/10.5151/16ergodesign-0167.

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8

Stohr, Lee. "Hand Controls for Paraplegic Race Car Drivers." In Motorsports Engineering Conference & Exposition. 400 Commonwealth Drive, Warrendale, PA, United States: SAE International, 1998. http://dx.doi.org/10.4271/983070.

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Fattah, Abbas, Sunil K. Agrawal, and John Fitzgibbons. "Design of a Gravity-Balanced Assistive Device for Sit-to-Stand Tasks." In ASME 2004 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. ASMEDC, 2004. http://dx.doi.org/10.1115/detc2004-57434.

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The joint torques in hip, knee and ankle are computed using inverse dynamic model during standing up for a paraplegic patient. The joint torque comprises the dynamical torque due to the inertia forces, and a passive torque due to the muscles and gravitational torque. It has been observed that the contribution to the joint torques by the gravitational torque is dominant. On the basis of this result, a gravity balanced assistive device is proposed for the elderly and impaired people such as spinal cord injury and paraplegic patients. This passive device uses a hybrid method to identify the center of mass of the system using auxiliary parallelograms first. Next appropriate springs are connected to the device to vanish the total potential energy of the system due to the gravity during standing up. A prototype with the underlying principles is currently being fabricated at the University of Delaware.
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10

Book, Jennifer, Isabel Giraldo, and Sean D. Peterson. "Collapsible Load Bearing Assistive Standing Device for Paraplegics." In ASME 2012 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2012. http://dx.doi.org/10.1115/sbc2012-80356.

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There are several health benefits to persons with spinal cord injuries and other mobility related disabilities achieved by standing and load bearing for a period of time, such as enhancing psychological well-being, maintaining vital organ capacity, and reducing abnormal muscle tone and spasticity [1]. Assistive standing devices for paraplegics are normally used while individuals are attending rehabilitation centers, as these devices are often impractical or undesirable for home use. Designs of standing structures for paraplegics that are currently available on the market often take up too much floor space in the home and are expensive, costing up to $2500. Therefore, in order to extend the health benefits of standing to paraplegics with limited floor space, budget, and/or a dislike of bulky medical devices in their home, it would be beneficial to have an inexpensive, aesthetically appealing, small-footprint option available for personal use.
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Reports on the topic "Paraplegin"

1

Purdy, Allison. The Effects of Yoga Therapy on the Quality of Life for a Paraplegic Individual. Portland State University Library, January 2000. http://dx.doi.org/10.15760/etd.342.

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