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Sample records for atrofia muscular espinal

  1. Desarrollo neuromuscular en la atrofia muscular espinal

    OpenAIRE

    Martínez Hernàndez, Rebeca

    2012-01-01

    INTRODUCCIÓN: La atrofia muscular espinal (AME) es una enfermedad neuromuscular infantil caracterizada por la muerte de las neuronas motoras del asta anterior de la médula espinal. Como consecuencia de ello hay una degeneración y atrofia muscular, por lo que los pacientes mueren a menudo de insuficiencias respiratorias graves. La AME se clasifica en tres tipos principales según el grado de gravedad, la edad de aparición y las pautas motoras. Se trata de una enfermedad con patrón de herencia a...

  2. Atrofia muscular proximal familiar

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    José Antonio Levy

    1962-09-01

    Full Text Available Os autores relatam dois casos de atrofia muscular proximal familiar, moléstia caracterizada por déficit motor e atrofias musculares de distribuição proximal, secundárias a lesão de neurônios periféricos. Assim, como em outros casos descritos na literatura, foi feito inicialmente o diagnóstico de distrofia muscular progressiva. O diagnóstico correto foi conseguido com auxílio da eletromiografia e da biopsia muscular.

  3. Avaliação dos resultados do tratamento cirúrgico da escoliose na atrofia muscular espinhal tipo 2 Evaluación de los resultados del tratamiento quirúrgico de la escoliosis en la atrofia muscular espinal tipo 2 Results evaluation of surgical treatment of scoliosis in spinal muscular atrophy type 2

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    Luiz Eduardo Munhoz da Rocha

    2011-01-01

    Full Text Available OBJETIVO: Avaliar o resultado do tratamento cirúrgico da escoliose em pacientes com atrofia muscular espinhal (AME tipo 2. MÉTODO: Estudo retrospectivo com 12 pacientes portadores de AME tipo 2 submetidos à artrodese e instrumentação para correção da escoliose com mais de dois anos de seguimento. Foi avaliado o grau e percentual de correção da deformidade e da obliquidade pélvica no pós-operatório e a perda na última avaliação, além das complicações e o impacto do tratamento sobre a função respiratória. RESULTADOS: O seguimento médio foi de 77,5 meses (6,4 anos ± 58,9 meses (4,9 anos, o ângulo de Cobb pré-operatório médio foi de 76,1° ± 31,7° (35° a 144° e no pós-operatório de 29,5° ± 23,2° (5° a 90°, com a correção média de 46,6° (61,29%. A obliquidade pélvica média no pré-operatório foi de 15,1° ± 13,3° (variação de 0° a 37°, e no pós-operatório de 8,5° ± 9,9° (variação de 0° a 30°, com uma correção média de 6,5° (43,37%. Cinco pacientes tiveram complicações (41,6%. A Capacidade Ventilatória Forçada (CVF média pré-operatória foi de 62,9% ± 38,6% (variação de 23,3% a 89% e de 45,9% ± 25,0% (variação de 15% a 86,2%, na última avaliação. O declínio foi de 17% da capacidade vital, com redução de 2,4% por ano de seguimento. CONCLUSÕES: O tratamento cirúrgico da escoliose em pacientes com AME permite corrigir a obliquidade pélvica e restabelecer o balanço sagital e coronal liberando as mãos para as atividades da vida diária. A função pulmonar foi afetada positivamente pelo tratamento.OBJETIVO: Evaluar los resultados del tratamiento quirúrgico de la escoliosis en pacientes con atrofia muscular espinal (AME de tipo 2. MÉTODOS: Estudio retrospectivo de 12 pacientes con atrofia muscular espinal tipo 2 que fueron sometidos a artrodesis e instrumentación para la corrección de la escoliosis, con más de dos años de seguimiento. En la última evaluación, se

  4. X-linked spinal and bulbar muscular atrophy (Kennedy's disease with long-term electrophysiological evaluation: case report Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy com seguimento eletrofisiológico de longo prazo: relato de caso

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    João Aris Kouyoumdjian

    2005-03-01

    Full Text Available X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND, who presented acute and reversible left vocal fold (dysphonia and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34. Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy é uma neuronopatia motora em adultos causada por expansões na repetição CAG no gene do receptor andrógeno. Neste relato, descreve-se o caso de homem de 66 anos, com diagnóstico prévio de doença do neurônio motor (DNM que apresentou quadro agudo e reversível de paresia de prega vocal (disfonia e de músculos faríngeos à esquerda; posteriormente seguiram-se surtos de fraqueza lentamente progressiva, atrofia e fasciculações em língua, masseter, face, faringe e membros superiores predominantemente proximal, associada a tremor

  5. Spinal Muscular Atrophy (SMA)

    Science.gov (United States)

    ... Your 1- to 2-Year-Old Spinal Muscular Atrophy (SMA) KidsHealth > For Parents > Spinal Muscular Atrophy (SMA) A A A What's in this article? ... Outlook en español Atrofia muscular espinal Spinal muscular atrophy, or SMA, is an inherited condition that causes ...

  6. Dificuldades diagnósticas na atrofia muscular espinhal Spinal muscular atrophy diagnostic difficulties

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    Alexandra Prufer de Q-C. Araújo

    2005-03-01

    Full Text Available OBJETIVO: Descrever o perfil clínico e laboratorial de pacientes com atrofia muscular espinhal (AME com deleção no gene da proteína sobrevivência do neurônio motor (SMN. MÉTODO: Estudo descritivo de uma série de casos confirmados pela presença da deleção no gene SMN. Determinação da freqüência da positividade dos critérios clínicos e laboratoriais revisados. RESULTADOS: Foram incluídos no estudo 22 casos. Em todos havia paresia simétrica, sendo a localização difusa predominante nos casos de início antes de 6 meses (75 %, enquanto nos demais havia predominância de localização proximal e/ou em membros inferiores (67 %. Fasciculações e atrofia foram freqüentes (82 %. Os exames complementares tiveram resultados variáveis, sendo a positividade da eletroneuromiografia (ENMG de 57 % e da biopsia muscular de 58 %. CONCLUSÃO: A presença de deleção no gene SMN pode ajudar a confirmar o diagnóstico de casos indefinidos .OBJECTIVE: To describe the clinical findings of patients with spinal muscular atrophy (SMA with survival motor neuron (SMN gene deletion. METHOD: Descriptive study of SMA cases confirmed with the deletion of the SMN gene. Frequency determination of positive clinical and laboratory revised diagnostic criteria. RESULTS: All of the 22 included patients had symmetrical muscle weakness, which was diffuse in those with onset of symptoms up to 6 months of age (75 %, and either proximal or predominant in lower limbs in the remaining group (67 %. Fasciculations and atrophy were both frequent findings (82 %. Laboratory tests findings were variable, with a positivity of 57 % for electrophysiology and of 58 % for muscle biopsy. CONCLUSION: The presence of a deletion in the SMN gene can help to confirm this diagnosis in unclear presentations.

  7. Estudo de 43 pacientes com atrofia muscular espinhal e seu diagnóstico molecular

    OpenAIRE

    Carvalho, Laís Regina Rocha de; Scola, Rosana Herminia

    2003-01-01

    Apendice e Anexos Orientadora: Rosana Herminia Scola Dissertaçao(mestrado)- Universidade Federal do Paraná. Setor de Ciencias da Saúde. Departamento de Clínica Médica. Curso de Pós-graduaçao em Medicina Interna Inclui bibliografia Resumo: A atrofia muscular espinhal e uma doenca degenerativa das celulas do como anterior da medula, com quatro tipos descritos (I, II, IIIa/b, IV). Somente os tipos I, II, Illa e Illb apresentam comprometimento do cromossomo 5ql3, em que dois genes sao...

  8. Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras

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    Mariana T. C. Baioni

    2010-08-01

    Full Text Available OBJETIVO: Relatar as recentes descobertas genéticas e moleculares, juntamente com as perspectivas futuras, para o tratamento da atrofia muscular espinhal, auxiliando, dessa forma, os profissionais da área da saúde a fazerem um rápido diagnóstico e proporcionarem um suporte terapêutico correto e precoce. FONTES DOS DADOS: As informações foram coletadas a partir de artigos científicos publicados nas duas últimas décadas, pesquisados nas bases de dados SciELO, PubMed e MEDLINE. SÍNTESE DOS DADOS: A atrofia muscular espinhal é uma doença neurodegenerativa com herança genética autossômica recessiva. É causada por uma deleção homozigótica do gene de sobrevivência do motoneurônio. Essa alteração genética resulta na redução dos níveis da proteína de sobrevivência do motoneurônio, levando à degeneração de motoneurônios alfa da medula espinhal, o que resulta em fraqueza e paralisia muscular proximal progressiva simétrica. Sabe-se que alguns cuidados básicos referentes à nutrição, respiração e fisioterapia podem ser importantes para retardar o progresso da doença e prolongar a vida dos pacientes. Vários medicamentos estão sendo testados, alguns novos, outros já conhecidos, como o ácido valproico, sendo que a paralisia pode ser estacionada, mas não revertida. CONCLUSÕES: A atrofia muscular espinhal é uma desordem de difícil diagnóstico, por ser pouco conhecida, e de tratamento ainda incerto. Os tratamentos farmacológicos e as terapias de suporte existentes ainda não são capazes de recuperar os motoneurônios ou as células musculares que já foram perdidos, mas têm o objetivo de retardar o progresso da doença e melhorar a função muscular residual dos pacientes, bem como oferecer uma melhor qualidade e expectativa de vida.

  9. Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report Aracnodactilia contratural congênita com atrofia muscular espinhal: relato de caso

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    Rosana Herminia Scola

    2001-06-01

    Full Text Available We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA. The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.Relatamos o caso de uma paciente do sexo feminino de 3 anos e 6 meses com hipotonia, contraturas de múltiplas articulações, aracnodactilia, polegares aduzidos, dolicostenomelia e orelhas externas anormais sugerindo o diagnóstico de aracnodactilia contratural congênita (ACC. As enzimas musculares eram normais e a eletromiografia de agulha mostrou desinervação ativa e crônica. A biópsia muscular mostrou desinervação ativa e crônica compatível com atrofia muscular espinhal. A análise dos exons 7 e 8 do gene do survival motor neuron por reação em cadeia de polimerase não mostrou deleções. Atrofia muscular neurogênica é uma nova anormalidade associada a ACC, sugerindo a heterogeneidade clínica da ACC.

  10. Efeitos do ácido graxo ômega-3 na prevenção da atrofia muscular induzida pela dexametasona

    OpenAIRE

    Alan Fappi

    2013-01-01

    Várias condições podem estar associadas com a atrofia muscular, tais como inatividade, envelhecimento, septicemia, diabetes, câncer e uso de glicocorticoides. Todas estas condições levam a atrofia muscular através de mecanismos que incluem aumento da degradação proteica e/ou redução na síntese proteica, envolvendo pelo menos cinco sistemas: lisossomal, da calpaína, das caspases, metaloproteinases e o sistema ubiquitina-proteasoma (SUP). Glicocorticoides, tais como a dexametasona, acarretam at...

  11. [Fractures in spinal muscular atrophy].

    Science.gov (United States)

    Febrer, Anna; Vigo, Meritxell; Rodríguez, Natalia; Medina, Julita; Colomer, Jaume; Nascimento, Andrés

    2013-09-01

    Objetivo. Determinar la frecuencia de fracturas en pacientes con atrofia muscular espinal, mecanismo de produccion, edad de aparicion y repercusion funcional. Pacientes y metodos. Se estudian 65 pacientes con atrofia muscular espinal. Se recogen las fracturas diagnosticadas mediante radiografia y se analizan los siguientes parametros: tipo de atrofia muscular espinal, marcha, edad en el momento de la fractura, mecanismo de produccion, localizacion, tratamiento aplicado y repercusion funcional. Resultados. Presentaron fracturas 13 pacientes (20%), con un total de 20 (cuatro presentaron dos o mas fracturas). La edad media fue de 6,35 años. La localizacion fue en su mayoria en el femur y el mecanismo de produccion, en 12 casos por caidas y en 8 por traumatismo menor. No detectamos ninguna fractura vertebral. Todas se trataron de manera conservadora. El unico paciente ambulante que presento una fractura dejo de caminar despues de la inmovilizacion. Conclusiones. La existencia de fracturas en estos pacientes interfiere en su calidad de vida y en el nivel funcional. Es importante la prevencion de las mismas en el manejo del paciente y vigilando la correcta postura en la silla de ruedas con sistemas de sujecion Deberian emprenderse mas estudios sobre la perdida de densidad mineral osea en estos pacientes y su posible relacion con las fracturas.

  12. Estimulação elétrica neuromuscular em cães com atrofia muscular induzida Neuromuscular electric stimulation in dogs with induced muscle atrophy

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    C. Pelizzari

    2008-02-01

    Full Text Available Empregou-se a estimulação elétrica neuromuscular (EENM de baixa freqüência no músculo quadríceps femoral de cães com atrofia induzida e avaliou-se a ocorrência de ganho de massa nessa musculatura. Foram utilizados oito cães com pesos entre 15 e 30kg, distribuídos aleatoriamente em dois grupos denominados de I ou controle e II ou tratado. A articulação femorotibiopatelar esquerda foi imobilizada por 30 dias pelo método de transfixação percutânea tipo II, com retirada de aparelho de imobilização após esse período. Decorridas 48 horas da remoção, foi realizada a EENM nos cães do grupo II, cinco vezes por semana, com intervalo de 24 horas cada sessão, pelo período de 60 dias. Foram avaliadas a circunferência da coxa, a goniometria do joelho, a análise clínica da marcha, as enzimas creatina-quinase (CK e aspartato-amino-transferase (AST e a morfometria das fibras musculares em cortes transversais do músculo vasto lateral colhido mediante biópsia muscular. A EENM foi empregada no músculo quadríceps femoral na freqüência de 50Hz, duração de pulso de 300 milisegundos e relação de tempo on/off de 1:2. Quanto à morfometria das fibras do músculo vasto lateral, no grupo tratado houve aumento significativo (PLow frequency neuromuscular electrical stimulation (NMES was used on the femoral quadriceps of dogs with induced muscular atrophy and the occurrence of gain in mass in these muscles was evaluated. Eight dogs from 15 to 30kg were randomly distributed in two groups named I, or control; and II, or treated. For the induction of muscular atrophy, the left femoral-tibial-patellar joint was immobilized for 30 days by percutaneous transfixation type II. After 30 days, the immobilization device was removed. The NMES treatment began 48 hours after the removal of the immobilization device of the dogs of group II, and it was carried out five times per week with an interval of 24 hours between each session, for 60 days. The

  13. Irmandade afetada pela atrofia muscular peroneal de Charcot-Marie-Tooth com possível variante do fenômeno da antecipação

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    Aguinaldo Gonçalves

    1977-06-01

    Full Text Available Considerando-se a peculiaridade genética da atrofia peroneal de Charcot-Marie-Tooth, é feita a descrição clínica de família com três irmãos afetados, com idade de aparecimento progressivamente antecipada, refletindo possível variante do fenômeno da antecipação, condição inusitada na literatura, não só para esta doença, mas também, de modo geral, em Genética Humana.

  14. [Translation and validation of the Egen Klassifikation scale for the Spanish population: functional assessment for non-ambulatory individuals with Duchenne's muscular dystrophy and spinal muscular atrophy].

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    Fagoaga, Joaquín; Girabent-Farrés, Montserrat; Bagur-Calafat, Caritat; Febrer, Anna; Steffensen, Birgit F

    2013-06-01

    Introduccion. La escala Egen Klassifikation (EK) es un cuestionario que valora la capacidad funcional de personas con distrofia muscular de Duchenne y atrofia muscular espinal no ambulantes y que estan en silla de ruedas. Objetivo. Traducir y validar la EK para la poblacion espanola, como instrumento de medicion de la capacidad funcional en dichos pacientes. Pacientes y metodos. Se realiza, en primer lugar, una traduccion-retrotraduccion de la EK en la poblacion espanola y, posteriormente, se practica el estudio de fiabilidad de la version traducida al espanol de dicha escala. Se llevan a cabo tres mediciones a 30 pacientes con edades comprendidas entre 4 y 67 anos. Dos de estas mediciones se realizan por el mismo observador, y la tercera, por un segundo observador, para evaluar la concordancia intra e interobservador. Resultados. Los valores obtenidos referidos a la puntuacion total de los items de la escala, suma EK, reflejan un indice de fiabilidad del 0,995. Tambien muestran una fiabilidad superior a 0,86 en cada uno de los items, tanto en las observaciones intra como interobservador. Conclusiones. La version espanola de la EK es un instrumento valido y fiable para la poblacion espanola, como herramienta de medicion de la capacidad funcional en pacientes con distrofia muscular de Duchenne y atrofia muscular espinal no ambulantes y que estan en silla de ruedas.

  15. Atrofia muscular bulbo espinhal recessiva ligada ao cromossomo X (doença de Kennedy: estudo de uma família X-linked recessive bulbospinal muscular atrophy (Kennedy's disease: study of a family

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    DAMACIO RAMÓN KAIMEN-MACIEL

    1998-09-01

    Full Text Available A doença de Kennedy (DK é forma rara de doença do neurônio motor caracterizada por mutação na região codificadora do gene do receptor androgênico localizado no braço longo do cromossoma X (Xq 11-12. Há expansão das sequências de trinucleotídeos CAG que nos pacientes deve atingir número maior do que 347 repetições de pares de bases. Apresentamos quatro gerações de uma família com dez indivíduos acometidos. Avaliamos três pacientes do sexo masculino com idade variando entre 50 e 60 anos que desenvolveram sintomatologia por volta de 30 anos de idade caracterizada por fraqueza muscular progressiva associada a disfagia e disartria. O exame demonstrou ginecomastia, atrofia testicular, amiotrofia, fasciculações, paresia, abolição de reflexos e tremor postural. A análise do DNA pela técnica do PCR demonstrou número de repetições CAG aumentado no locus Xq 11-12 nos três pacientes e em uma mulher assintomática da família. Demonstramos a primeira família brasileira com diagnóstico de DK através de genética molecular. A DK deve fazer parte do diagnóstico diferencial das doenças do neurônio motor e a identificação destes pacientes é importante para o prognóstico e para o aconselhamento genético.Kennedy's disease is a rare type of motor neuron disease with a sex-linked recessive trait. DNA studies show a mutation at the androgen receptor gene on the long arm of X cromossome (Xq 11-12 with expanded CAG triplets (more than 347 repeats. We present three patients and one carrier among ten patients of a four generation family with clinical phenotype of the disease. The patients' ages ranged from 50 to 60 years with symptomatology usually beginning around 30 years of age. Patients had gynecomastia, testicular atrophy, muscular weakness, fasciculation, amyotrophy, absent deep tendon reflexes and postural tremor. PCR techniques of DNA analysis showed expanded size of CAG repeats on Xq 11-12 in all the three patients and in

  16. Estimulação elétrica neuromuscular de média freqüência (russa em cães com atrofia muscular induzida Medium frequency neuromuscular electrical stimulation (russian in dogs with induced muscle atrophy

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    Charles Pelizzari

    2008-06-01

    Full Text Available A estimulação elétrica neuromuscular (EENM de média freqüência (Russa ou de Kotz pode ser empregada para a recuperação de massa muscular em animais apresentando atrofia muscular por desuso. Assim, o objetivo deste trabalho foi empregar a EENM de média freqüência no quadríceps femoral de cães com atrofia muscular induzida, avaliando-se a ocorrência de ganho de massa. Foram utilizados oito cães em dois grupos denominados de GI ou controle e de GII ou tratado. Para a indução da atrofia muscular, a articulação fêmoro-tíbio-patelar esquerda foi imobilizada por 30 dias. Após 48 horas da remoção, foi realizada a EENM nos cães do grupo II, três vezes por semana, com intervalo de 48 horas cada sessão, pelo período de 60 dias. Foram avaliadas a mensuração da perimetria da coxa, da goniometria do joelho, as enzimas creatina-quinase (CK e morfometria das fibras musculares em cortes transversais do músculo vasto lateral, colhido mediante a biópsia muscular. A EENM foi empregada no músculo quadríceps femoral numa freqüência de 2.500Hz, largura de pulso de 50% e relação de tempo on/off de 1:2. Não houve diferença significativa quanto aos valores de perimetria da coxa e a atividade da enzima CK entre os grupos I e II. Na goniometria, houve diminuição significativa (PThe medium frequency neuromuscular electrical stimulation (NMES (Russa or Kotz is designed for recuperation of muscle mass in dogs with muscular atrophy in disuse. This study aims to utilize medium frequency NMES on the femoral quadriceps of dogs with induced muscular atrophy and evaluate the occurrence of gain in mass. Eight dogs in two groups denominated GI, or control, and GII, or treated were used. For the induction of muscular atrophy, the left femoral-tibial-patellar joint was immobilized for 30 days. NMES treatment began 48 hours after the removal of the immobilization device on dogs from group II and was carried out three times per week, with an

  17. Spinal muscular atrophy type II (intermediary and III (Kugelberg-Welander: evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool Atrofia muscular espinhal tipo II (intermediária e III (Kugelberg-Welander: evolução de 50 pacientes com fisioterapia e hidroterapia em piscina

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    Márcia C. B. Cunha

    1996-09-01

    Full Text Available We added hydrotherapy to 50 patients with spinal muscular atrophy (SMA who were being treated with individual conventional physiotherapy. Hydrotherapy was performed at an approximate temperature of 30 degrees Celsius, twice a week, for thirty minutes in children and for forty-five minutes in adults during a 2-year period. The outcome derived from this combined modality of treatment was rated according to physiotherapeutic evaluations, the MMT (Manual Muscular Test, and the Barthel Ladder. Patients were reevaluated at 2-month intervals. After two years of ongoing treatment, we were able to observe that the deformities in hip, knee and foot were progressive in all SMA Type II patients, and in some Type III. Muscle strength stabilized in most SMA Type III patients, and improved in some. MMT was not done in SMA Type II. In all patients we were able to detect an improvement in the Barthel Ladder scale. This study suggests that a measurable improvement in the quality of daily living may be obtained in patients with SMA Types II and III subjected to conventional physiotherapy when associated with hydrotherapy.A hidroterapia foi realizada em SO pacientes com atrofia muscular espinhal, os quais foram também tratados com fisioterapia individual convencional. O tratamento hidroterápico foi realizado em piscina aquecida numa temperatura de aproximadamente 30° Celsius, duas vezes por semana, durante 30 minutos em crianças e 45 minutos em adultos num período de dois anos. Os benefícios deste tipo de tratamento foram avaliados de acordo com a evolução clínica, o MMT(Teste de Força Muscular e a Escala de Barthel. Os pacientes foram reavaliados a cada dois meses. Após dois anos de tratamento nós observamos que as deformidades nos quadris, joelhos e pés foram progressivas em todos os pacientes do Tipo II e em alguns do Tipo III. Houve estabilização da força muscular na maioria dos pacientes com SMA Tipo III, e melhora da força em alguns; nos

  18. Aspectos clínicos e concentração sérica da creatina-quinase e lactato-desidrogenase em cães submetidos à fisioterapia após atrofia muscular induzida Clinical aspects and serum concentration creatina kinase and lactate dehydrogenase in dogs submitted to physiotherapy after induced muscle atrophy

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    Soraia Figueiredo de Souza

    2011-07-01

    Full Text Available Avaliou-se a resposta de diferentes protocolos fisioterapêuticos em cães após a indução de atrofia muscular por meio da imobilização do joelho por 30 dias. Os grupos foram denominados grupo C ou controle, grupo E (massagem, movimentação passiva e eletroterapia, grupo H (massagem, movimentação passiva e hidroterapia em esteira aquática e grupo EH (massagem, movimentação passiva, eletroterapia e hidroterapia em esteira aquática. Foram mensurados os graus de claudicação, arco do movimento, circunferência da coxa e a variação sérica das enzimas creatina-quinase e lactato-desidrogenase. De acordo com os resultados encontrados, foi possível concluir que as modalidades terapêuticas de massagem, movimentação passiva da articulação, estimulação elétrica neuromuscular e hidroterapia por caminhada em esteira aquática aceleram a recuperação clínica em cães com atrofia muscular induzida.The response of different physiotherapeutic treatment protocols was evaluated in dogs after muscle atrophy induced by joint immobilization for 30 days. Groups were named C group or control, E group (massage, passive range of motion and neuromuscular electrical stimulation, H group (massage, passive range of motion and aquatic therapy in underwater treadmill and EH group (massage, passive range of motion, neuromuscular electrical stimulation and aquatic therapy in underwater treadmill. It was measured the degree of lameness, range motion, thigh circumference and range of serum creatine kinase (CK and lactate dehydrogenase (LDH. According to the results, it was possible to conclude that associated therapeutics modalities such as massage, passive range of motion of the joint, neuromuscular electrical stimulation and aquatic therapy by walking on underwater treadmill accelerate clinical recovery in dogs with induced muscle atrophy.

  19. FIBROSIS MUSCULAR ESQUELETICA: PAPEL DE LOS FIBROBLASTOS EN LA DISTROFIA MUSCULAR

    OpenAIRE

    MEZZANO ROBINSON, VALERIA

    2007-01-01

    La distrofia muscular de Duchenne (DMD) es la distrofia muscular más frecuente en niños. Se caracteriza por degeneración muscular progresiva que lleva a atrofia muscular, invalidez y muerte alrededor de la 2da década de vida. El ratón mdx ha sido ampliame 97p.

  20. [Evolution of functional capacity, assessed with the Egen Klassifikation scale, in the Spanish population with spinal muscular atrophy or Duchenne muscular dystrophy. A three year longitudinal study].

    Science.gov (United States)

    Fagoaga, J; Girabent-Farres, M; Bagur-Calafat, C; Steffensen, B F

    2015-10-16

    Introduccion. La atrofia muscular espinal (AME) y la distrofia muscular de Duchenne (DMD) son dos enfermedades neuromusculares que evolucionan con perdida progresiva de la fuerza muscular y, en consecuencia, perdida de la capacidad funcional. La valoracion con escalas de medicion permite conocer mejor y cuantificar esta involucion, asi como tomar decisiones terapeuticas para anticiparse a los problemas y mejorar la calidad de vida de las personas afectas de estas patologias. Objetivo. Estudiar los cambios de la capacidad funcional de un grupo de pacientes con AME y DMD en un periodo de tres años. Pacientes y metodos. Diecinueve personas de la poblacion española afectas de AME o DMD, a las que se valoro con la escala Egen Klassifikation en dos ocasiones, en un periodo de tres años. Resultados. Los resultados obtenidos reflejan una disminucion de la capacidad funcional de estas personas durante este periodo de tiempo, con una diferencia significativa en la suma total de la escala (p = 0,003). Todos los items de la escala tuvieron valoraciones inferiores despues de tres años, y se llego a la significacion estadistica en la valoracion de la capacidad de mover las manos y de toser. Conclusion. La capacidad funcional de los pacientes con AME y DMD disminuye de forma significativa en tres años.

  1. Desproporção congênita de fibras: atrofia de fibras tipo I- relato de 11 casos

    Directory of Open Access Journals (Sweden)

    José Antonio Levy

    1987-06-01

    Full Text Available Os autores relatam 11 casos de desproporção congênita de fibras, comprovados pelos exames clínicos e complementares, em que as retrações fibrotendinosas precoces foram freqüentes, o CPK mostrou-se elevado e, na biópsia muscular, a histoquímica revelou atrofia seletiva das fibras tipo I. Trata-se de distrofia congênita pouco freqüente, de progressão lenta e evolução benigna.

  2. Deafness and espin-actin self-organization in stereocilia

    Science.gov (United States)

    Wong, Gerard C. L.

    2009-03-01

    Espins are F-actin-bundling proteins associated with large parallel actin bundles found in hair cell stereocilia in the ear, as well as brush border microvilli and Sertoli cell junctions. We examine actin bundle structures formed by different wild-type espin isoforms, fragments, and naturally-occurring human espin mutants linked to deafness and/or vestibular dysfunction. The espin-actin bundle structure consisted of a hexagonal arrangement of parallel actin filaments in a non-native twist state. We delineate the structural consequences caused by mutations in espin's actin-bundling module. For espin mutation with a severely damaged actin-bundling module, which are implicated in deafness in mice and humans, oriented nematic-like actin filament structures, which strongly impinges on bundle mechanical stiffness. Finally, we examine what makes espin different, via a comparative study of bundles formed by espin and those formed by fascin, a prototypical bundling protein found in functionally different regions of the cell, such as filopodia.

  3. [Functional assessment for people unable to walk due to spinal muscular atrophy and Duchenne muscular dystrophy. Translation and validation of the Egen Klassifikation 2 scale for the Spanish population].

    Science.gov (United States)

    Fagoaga, Joaquín; Girabent-Farrés, Montserrat; Bagur-Calafat, Caritat; Febrer, Anna; Steffensen, Birgit F

    2015-05-16

    Introduccion. La escala Egen Klassifikation 2 (EK2), ampliacion de la escala EK, evalua la capacidad funcional de personas con atrofia muscular espinal (AME) y distrofia muscular de Duchenne (DMD) que estan en fase de silla de ruedas. Esta version es mas especifica para la AME que su antecesora. Objetivo. Analizar la validez y fiabilidad de la version española de dicha escala como instrumento de medicion de la capacidad funcional en pacientes afectos de AME y DMD que estan en silla de ruedas. Pacientes y metodos. Primeramente se realizo una traduccion-retrotraduccion al español de la version en ingles de la EK2 y, posteriormente, se estudio la fiabilidad de la version traducida. Para ello, se seleccionaron 39 pacientes, de edades comprendidas entre 4 y 60 años, que fueron valorados por dos observadores. Para evaluar la concordancia intraobservador se realizaron dos evaluaciones por un mismo observador, y para la interobservador, se realizo una tercera evaluacion por un segundo observador. Resultados. Los valores obtenidos referidos a la puntuacion total de los items de la escala (suma EK2) reflejan una fiabilidad intra e interobservador excelente, de 0,993 y 0,988, respectivamente. Asimismo, para cada uno de los items, la fiabilidad fue excelente, a excepcion de un item, en el que fue buena. Conclusiones. La version española de la escala EK2 es un instrumento valido y fiable para la poblacion española como herramienta de medicion de la capacidad funcional en pacientes con AME y DMD que estan en silla de ruedas.

  4. Tratamento cirúrgico da escoliose em pacientes com amiotrofia espinhal com parafusos pediculares (instrumental de 3ª geração e complicações precoces Tratamiento quirúrgico de la escoliosis en pacientes con amiotrofia espinal con tornillos pediculares (instrumental de 3ª generación y complicaciones precoces Surgical treatment of scoliosis in spinal muscular atrophy with pedicle screws (third generation instrumentation and early complications

    Directory of Open Access Journals (Sweden)

    Daniel Cantarelli dos Santos

    2010-06-01

    pacientes tuvieron complicaciones precoces (31.2% con buena resolución. CONCLUSIÓN: el tratamiento quirúrgico de la escoliosis en pacientes con amiotrofia espinal, con artrodesis vía posterior utilizando tornillos pediculares, tiene gran potencial de corrección de la deformidad coronal y de la oblicuidad pélvica, sin grandes complicaciones en el postoperatorio precoz.OBJECTIVES: to report the results on the treatment of scoliosis in spinal muscular atrophy, using posterior arthrodesis with pedicle screws. METHODS: a retrospective study was carried out with 16 patients who underwent posterior spinal fusion with pedicle screws. The general status of the patients, correction of the Cobb angle, correction of pelvic obliquity and early complications were analyzed. RESULTS: the initial Cobb angle mean was 94.6º (65 to 132º turning into 40,4º (2 to 20º after the surgery, correction of 57.2%. The initial pelvic obliquity mean was 34.7º(25 to 56º turning into 11.3º (0 to 20º, correction of 67.4%. CONCLUSIONS: the treatment of scoliosis in spinal muscular atrophy using posterior arthrodesis with pedicle screws presents a great potential of correction for the coronal deformity and pelvic obliquity, without serious early complications.

  5. TUBERCULOSIS ESPINAL EN EL NIÑO.

    Directory of Open Access Journals (Sweden)

    Valentín Malagón Castro

    1979-10-01

    Full Text Available

    Revisión de 63 enfermos.

    El objeto de la presente comunicación; es la de revisar 63 casos de tuberculosis de la
    columna vertebral, de niños tratados en el Hospital Infantil de Bogotá; analizar su historia
    natural, los tipos de tratamiento efectuados, los resultados obtenidos, y las ventajas que
    ofrece la conducta quirúrgica, especialmente aquella, que tiene por objeto, hacer una resección completa de la lesión espinal, seguida de una fusión de las vértebras afectadas.

    Se analizan 63 casos de enfermos, con tuberculosis de la columna vertebral, de niños tratados en el servicio de ortopedia, del Hospital Infantil de Bogotá, en un período de 22 años comprendidos entre mayo de 1.955 y junio de 1.977; Dieciocho pacientes más fueron excluídos por tener historias clínicas insuficientes.

    En el tiempo citado, se hospitalizaron en el servicio de ortopedia: 7.880 niños, lo cual establece una relación de tuberculosis espinal, y otras afecciones ortopédicas del 1 por ciento. El número de enfermos nuevos con tuberculosis espinal por año es de 3.68.

    FRECUENCIA

    En los 22 años, ingresaron al hospital 148 niños con tuberculosis osteoarticular. La distribución por segmentos es la siguiente:

    columna: 81: 54.7%
    rodilla: 32: 21.6%
    cadera: 29: 19.6%
    tobillo: 2: 1.3%
    codo: 1: 0.6%
    hombro: 1: 0.6%
    pierna: 1: 0.6%
    antebrazo: 1: 0.6%

    Los 31 niños y las 32 niñas que fueron tratados procedían de diferentes regiones del país, y todos pertenecían a un nivel socioeconómico bajo...

  6. Resúmenes de los trabajos sobre la atrofia espinocerebelosa

    OpenAIRE

    2010-01-01

    Cuba presenta la mayor prevalencia mundial de Ataxia Espinocerebelosa Tipo 2, con más de 8000 individuos en riesgo de haber heredado la enfermedad, por lo cual el desarrollo de investigaciones y proyectos de investigación para investigar y seguir las intervenciones que se desarrollan en esta dirección, son de gran importancia y constituyen verdaderas gruías de trabajo no solo para Cuba sino también para otros países. En el salón de Atrofias Espino Cerebelosas se presentan un total de 11 inves...

  7. Resúmenes de los trabajos sobre la atrofia espinocerebelosa

    Directory of Open Access Journals (Sweden)

    Congreso Nacional de Neurolog'ia

    2010-03-01

    Full Text Available Cuba presenta la mayor prevalencia mundial de Ataxia Espinocerebelosa Tipo 2, con más de 8000 individuos en riesgo de haber heredado la enfermedad, por lo cual el desarrollo de investigaciones y proyectos de investigación para investigar y seguir las intervenciones que se desarrollan en esta dirección, son de gran importancia y constituyen verdaderas gruías de trabajo no solo para Cuba sino también para otros países. En el salón de Atrofias Espino Cerebelosas se presentan un total de 11 investigaciones que tratan de una manera u otra este tema. Los resúmenes de las mismas se pueden encontrar en este apartado.

  8. Dos casos de atrofia cortical posterior, la demencia que inicia con síntomas visuales.

    OpenAIRE

    Custodio, Nilton; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima, Perú. Servicio de Neurología. Clínica Internacional. Lima, Perú. Unidad de Diagnóstico de Deterioro Cognitivo y Prevención de Demencia. Clínica Internacional. Lima.; Lira, David; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima, Perú. Servicio de Neurología. Clínica Internacional. Lima, Perú. Unidad de Diagnóstico de Deterioro Cognitivo y Prevención de Demencia. Clínica Internacional. Lima.; Herrera-Pérez, Eder; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima. Unidad de Diagnóstico de Deterioro Cognitivo y Prevención de Demencia. Clínica Internacional. Lima. Servicio de Medicina de Rehabilitación. Clínica Internacional. Lima.; Montesinos, Rosa; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima. Unidad de Diagnóstico de Deterioro Cognitivo y Prevención de Demencia. Clínica Internacional. Lima. Servicio de Medicina de Rehabilitación. Clínica Internacional. Lima.; Guevara-Silva, Erik; Departamento de Medicina. Hospital San Juan de Lurigancho. Lima.; Núñez del Prado, Liza; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima.; Castro-Suárez, Sheila; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima. Servicio de Neurología de la Conducta. Instituto Nacional de Ciencias Neurológicas. Lima.; Mar, Marcela; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima. Servicio de Geriatría. Hospital de la Fuerza Aérea del Perú. Lima.; Cuenca, José; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima. Servicio de Neurología de la Conducta. Instituto Nacional de Ciencias Neurológicas. Lima,; Cortijo, Patricia; Unidad de Investigación. Instituto Peruano de Neurociencias. Lima, Perú. Unidad de Diagnóstico de Deterioro Cognitivo y Prevención de Demencia. Clínica Internacional. Lima.

    2014-01-01

    Presentamos dos casos de demencia de inicio antes de los 65 años de edad con apraxia y manifestaciones visuo-espaciales, en los cuales no hay trastornos de memoria y de la conducta, y con diferentes grados de evolución a demencia. Las imágenes estructurales del cerebro demuestran atrofia parieto-occipital. Ambos casos reúnen los criterios de atrofia cortical posterior (ACP).

  9. A lesão muscular na miastenia grave: estudo de 17 casos com histoquimica muscular

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    1982-03-01

    Full Text Available Estudo de 17 biópsias musculares de pacientes com miastenia grave, utilizando técnicas de coloração a fresco e histoquímica muscular. Foram encontradas 15 biópsias musculares anormais, sendo que as principais alterações foram fibras musculares angulares escuras atróficas, excesso de gotículas de gordura na membrana externa das fibras, variação no diâmetro das fibras e atrofia de fibras do tipo II. Os achados foram interpretados como denervação em 11 biópsias, atrofia de fibras do tipo II em 7, infiltrado linfocitário em 4, necrose de fibras musculares com fagocitose em 1 e em 2 biópsias não foi encontrada qualquer anormalidade. Quanto maior o tempo de doença, mais severa foi a anormalidade encontrada. Dois pacientes apresentavam timoma, um miastenia grave congênita, um artrite reumatoide, um neurite hipertrófica intersticial, um tireoidite de Hashimoto e um com síndrome miastênica concomitante. São discutidos os achados anatomopatológicos e sua possível explicação.

  10. Meningitis tras anestesia y analgesia espinal

    Directory of Open Access Journals (Sweden)

    M. Robles Romero

    2013-08-01

    Full Text Available El objetivo de esta revisión es una puesta al día en la etiología, diagnóstico, profilaxis y tratamiento de la meningitis tras anestesia y analgesia espinales. Aunque es una complicación mayor de esta técnica y su incidencia es baja, cada vez son más frecuentes los casos publicados en la literatura médica. Según su etiología se les clasifica en meningitis sépticas, víricas y asépticas. Las meningitis sépticas son las más frecuentes, y en su etiología cada vez juega un papel más destacado como agente implicado el estreptococo salivarius. Como meningitis asépticas se clasifican aquellas en las que el cultivo de líquido cefalorraquídeo es negativo, con un periodo de latencia de síntomas inferior a seis horas, que pueden cursar con eosinofilia en el líquido cefalorraquídeo y unos niveles cercanos a la normalidad en la glucorraquia. Suelen tener buena respuesta y evolución con tratamiento antibiótico con vancomicina y cefalosporinas de tercera generación. Como profilaxis incidir en las medidas de asepsia, sobre todo en el uso de mascarilla facial para realizar la técnica, como práctica para disminuir la incidencia de gérmenes cuyo origen está en la cavidad oral y orofaringe. Asimismo podrían reducir la incidencia de meningitis las medidas de asepsia tales como el lavado de manos, uso de guantes y asepsia de la piel. La diferenciación entre meningitis séptica y aséptica se hará con mayor seguridad cuando se estandaricen las técnicas para detectar genoma bacteriano en el líquido cefalorraquídeo; actualmente se etiquetan como meningitis asépticas aquellas en las que el cultivo de líquido cefalorraquídeo es negativo y cuya tinción de Gram es negativa. Pese a que el pronóstico y evolución en rasgos generales de las meningitis tras anestesia y analgesia espinal es bueno, en comparación con las meningitis adquiridas en la comunidad, por la escasa virulencia de las bacterias implicadas (Estreptococo salivarius

  11. Muscular Dystrophy

    Science.gov (United States)

    ... Devices The Search for a Cure en español Distrofia muscular About MD Muscular dystrophy (MD) is a genetic ... muscles and cause different degrees of muscle weakness. Duchenne muscular dystrophy is the most common and the most ...

  12. Muscular Dystrophy

    Science.gov (United States)

    ... Devices The Search for a Cure en español Distrofia muscular About MD Muscular dystrophy (MD) is a ... muscles and cause different degrees of muscle weakness. Duchenne muscular dystrophy is the most common and the ...

  13. Anetodermia y otras atrofias circunscriptas de la piel Anetoderma and localized atrophies of the skin

    Directory of Open Access Journals (Sweden)

    RE Achenbach

    Full Text Available Efectuamos una revisión de las denominadas atrofias circunscriptas de la piel, con énfasis en la anetodermia y la atrofodermia; ilustramos algunos casos vividos en los últimos años.A review of the localized atrophies of the skin, focusing in the anetodermia and atrophoderma are made. Some of the cases from our Department of Dermatology are pictured.

  14. Cisto aracnóideo extradural do canal espinal

    Directory of Open Access Journals (Sweden)

    Nelson Pires Ferreira

    1972-09-01

    Full Text Available É relatado o caso de um paciente que apresentava paraparesia sensitivo-motora evolutiva, datando de um ano. As radiográficas da coluna vertebral e mielografia permitiram o diagnóstico de cisto de aracnóide extradural do canal espinal de localização torácica, que foi confirmado pelo ato cirúrgico. Os autores revisam a literatura assinalando 76 casos já publicados. São comentadas a incidência do processo patológico nos diversos grupos etários, sua localização ao longo do canal raqueano, a evolução do quadro clínico, a etiología e a fisiopatologia do crescimento do cisto, o diagnóstico, a terapêutica e o prognóstico.

  15. Muscular Dystrophy

    Science.gov (United States)

    ... muscular dystrophy. It's important to be vaccinated for pneumonia and to keep up to date with influenza shots. Dietary changes haven't been shown to slow the progression of muscular dystrophy. But proper nutrition is essential because limited mobility can contribute to ...

  16. Atrofia óptica hereditaria. Presentación de tres casos.

    Directory of Open Access Journals (Sweden)

    Esther Díaz Guzmán

    2006-03-01

    Full Text Available Se realizó un estudio descriptivo que incluyó a tres miembros de una familia, comenzando por una paciente, su hijo y un nieto, todos con una atrofia óptica dominante, con daños visuales variables en dependencia del progreso de la enfermedad, y por lo tanto con necesidad de ayudas ópticas o no. Se tomaron fotos del fondo de ojo de cada paciente, y se presentan como un caso de gran interés oftalmológico, seguido incluso por la consulta de genética en nuestra provincia.

  17. Atrofia girata de coróide e retina : relato de caso

    Directory of Open Access Journals (Sweden)

    Oyamaguchi Emerson Kenji

    2003-01-01

    Full Text Available OBJETIVO: Relatar um caso de atrofia girata de coróide e retina com confirmação por meio da bioquímica do plasma. MÉTODO: Aferiu-se a melhor acuidade visual corrigida de ambos olhos (AO em tabela de Snellen. Foram realizados biomicroscopia do segmento anterior, refração, mapeamento de retina, angiografia fluoresceínica, campo visual e dosagem da ornitina sérica (aminoacidograma. RESULTADOS: Paciente de 22 anos, sexo feminino, cor branca, apresentando alta miopia e acuidade visual (AV 20/100 em AO. À biomicroscopia do segmento anterior apresentava catarata subcapsular posterior em AO. À oftalmoscopia foram verificadas lesões atróficas da coróide e da retina bem delimitadas em meia periferia de AO. O aminoacidograma constatou elevação correspondente ao complexo da ornitina. CONCLUSÃO: Relata-se um caso típico de atrofia girata, distrofia retiniana rara associada a hiperornitinemia.

  18. Exploring the interactions between neuron degeneration and RNA homeostasis through biological network analysis

    OpenAIRE

    García-Vaquero, Marina Luque

    2016-01-01

    Tese de mestrado em Bioquímica, apresentada à Universidade de Lisboa, através da Faculdade de Ciências, 2016 A esclerose lateral amiotrófica (ALS) e a atrofia muscular espinal (SMA) são caracterizadas pela degeneração dos neurónios motores (MN) e são comummente conhecidas como doenças neuromusculares, ou mais especificamente doenças do neurónio motor (MND). A morte dos neurónios motores está diretamente envolvida na perda da inervação muscular e na consequente atrofia muscular. Para ...

  19. Meningitis tras anestesia espinal Meningitis after a spinal anesthesia

    Directory of Open Access Journals (Sweden)

    A. L. Vázquez-Martínez

    2008-03-01

    Full Text Available La meningitis post-punción es una importante complicación de la anestesia espinal. Describimos el caso de un varón de cuarenta y seis años que ingresó para tratamiento quirúrgico de una hernia umbilical, la cirugía se realizó bajo anestesia intradural. Tras la intervención el paciente comenzó con un cuadro clínico compatible con meningitis, que se confirmó tras examen del líquido cefalorraquídeo. Se trató con antibióticos a pesar de la no identificación de gérmenes, siendo la evolución favorable. El diagnóstico etiológico de una meningitis iatrogénica no siempre es posible, pero siempre debemos tener en cuenta esta posibilidad. En este artículo queremos revisar la situación actual del problema, especialmente la profilaxis y la actitud terapéutica.Post-dural puncture meningitis is a serious complication of spinal anesthesia. We describe the case of a forty six years old male who was admitted for surgical intervention of an umbilical hernia, performed under spinal anesthesia. After surgery the patient developed a clinical syndrome compatible with meningitis, the diagnosis was confirmed by examination of the cerebrospinal fluid. Broad-spectrum antibiotics were started although spinal cultures were negatives, and the patient's clinical course was favourable. The meningitis differential diagnosis may be difficult, but we must think about this possibility. In this case report ,we want to check the present situation, specially the prevention and medical treatment.

  20. Dismorfia muscular

    OpenAIRE

    Assunção,Sheila Seleri Marques

    2002-01-01

    Preocupações mórbidas com a imagem corporal eram tidas até recentemente como problemas eminentemente femininos. Atualmente estas preocupações também têm sido encontradas no sexo masculino. A dismorfia muscular é um subtipo do transtorno dismórfico corporal que ocorre principalmente em homens que, apesar da grande hipertrofia muscular, consideram-se pequenos e fracos. Além de estar associada a prejuízos sociais, ocupacionais, recreativos e em outras áreas do funcionamento do indivíduo, a dismo...

  1. Deficiência muscular de carnitina: relato de 8 casos com estudo clínico, eletromiográfico, histoquímico e bioquímico muscular

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    1985-09-01

    Full Text Available São relatados os casos de 8 pacientes, sendo 7 do sexo masculino, cuja idade variou entre 5 dias e 64 anos. Sete pacientes apresentavam diminuição da força muscular e todos apresentavam, nas biópsias musculares, acúmulo de lipídios. Os sintomas iniciaram nos primeiros dias de vida em três pacientes, na infância em dois, na idade adulta em dois; um dos casos apresentava-se assinto-mático aos 64 anos de idade (heterozigoto?. Em graus variáveis os pacientes apresentavam dificuldades na deglutição, hipotonia, atrofia muscular, dificuldades na mastigação, parestesias em membros inferiores, hepatomegalia e esplenome-galia. Cinco casos tinham história familiar e um relatava recorrências dos sintomas. Todos apresentavam aumento dos enzimas séricos, principalmente da creatinoquinase. A eletromiografia foi compatível a envolvimento muscular primário em um caso, desenervação em dois e neuromiopático em dois, não tendo sido realizada em três casos. Na biópsia muscular, em todos os casos, além do acúmulo de lipídios, ocorriam: componente de desenervação em 4, miopa-tia crônica em 4, atrofia de fibras do tipo II em um. Em dois casos, as alterações histológicas eram sugestivas de atrofia espinhal infantil. Um dos casos, possivelmente pertencente à forma sistêmica de deficiência de carnitina, possuía importante envolvimento miocárdico, vindo a falecer. São discutidos aspectos clínicos, metabólicos e terapêuticos das deficiências musculares de carnitina.

  2. Muscular Dystrophy

    Science.gov (United States)

    ... It Like for Teens With MD? en español Distrofia muscular Aside from seeing the telethon on Labor Day ... and rule out other diseases that affect the muscles or nerves. Some tests measure how nerves and muscles are working. Others ...

  3. Muscular Dystrophy

    Science.gov (United States)

    Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy ... types can vary in whom they affect, which muscles they affect, and what the symptoms are. All ...

  4. Necrosis de médula espinal, edema cerebral y glioblastoma

    OpenAIRE

    Iglesias Rozas, José Rafael, 1942-

    1987-01-01

    Cinco imágenes de una necrosis de la médula espinal, un edema cerebral y un glioblastoma en una paciente de 76 años. Five pictures of a spinal cord necrosis, a cerebral edema and a glioblastoma in a 76-year-old female patient.

  5. Muscular disease

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930186 The diagnostic value of MRI on neuro-muscular disease.CHEN Qingtang(陈清棠),etal.Dept Neurol,1st Hosp,Beijing Med Univ,100034.Chin J Neurol & Psychiat 1992;25(5):267-269.The article concentrated on the study ofskeletal muscles of four extremities in 12 casesof different kinds of neuromuscular diseases and4 volunteers with MRI.The results revealed:MRI could clearly display individual muscle,muscle groups or abnormal muscles morphologi-

  6. Menopausia, una endocrinopatía: Atrofia Urogenital y Trastornos de la Sexualidad

    Directory of Open Access Journals (Sweden)

    Roberto Vergara Tamara

    1995-08-01

    Full Text Available

    La atrofia urogonital causada por el estímulo deficiente estrogenito se manifiesta principalmente en la vagina, donde la mucosa sufre un adelgazamiento gradual que permite el predominio de células parabasales e intermedias propias del hipoestrogenismo, volviéndolo altamente sensible al trauma y la infección.

    Clínicamente se traduce en disminución de la humedad vaginal, sensación de llenura en el intróito, ruptura fácil de capilares vaginales con aparición de petequias, irritación, prurito y dispareunia.

    A nivel del endometrio se pueden presentar uno de los siguientes cambios: proliferación débil, atrofia senil, hiperplasia quística, hiperplasia adenomatosa, neoplasia omás raramente trastorno secretor; cambios que corresponden clínicamente a intervalos oligomenorreicos interpuestos por episodios hemorrágicos que finalmente terminan en amenorrea definitiva. En casos de sangrados postoriores ameritaría estudios anatomopatológicos de control obtenidos por biopsia o legrado uterino. Otros cambios que se presentan en el útero incluyen la pérdida de tono en sus ligamentos y elementos de sostén así comola disminución del cuello y su secreción.

    A nivel urinario la pérdida del tono uretral cursará con prolapso de la mucosa a través del meato, uretritis ahacteriana recurrente manifestada por poliaquiuria, disuria de ardor e incluso incontinencia urinaria de esfuerzo.

    Los cambios descritos anteriormente, hacen que la sexualidad femenina sea perturbada al presentarse dispareunia, disminuyendo de ritmo sexual y libido de la mujer haciendo su vida de pareja difícil y caótica. Se ha descrito también que la disminución de estrógenos produce ansiedad, depresión, tensión e irritabilidad al no permitir la disociación del triptófano de la albúmina para así formar sustancias tales como la hidroxitriptamina que participa en el mejoramiento del estado de ánimo. Esta etapa será de adaptación difícil y

  7. Cirugía preprotésica e implantológica en pacientes con atrofia maxilar severa

    OpenAIRE

    R. González García; Naval Gias, Luis; Mario F. Muñoz Guerra; Sastre Pérez, Jesús; F.J. Rodríguez Campo

    2005-01-01

    Objetivos. Valoración del éxito en la osteointegración de los implantes dentales en pacientes con atrofia maxilar severa sometidos a cirugía de elevación de seno maxilar y técnica por aposición mediante el uso de injertos de hueso autólogo. Diseño del estudio. Se realiza estudio descriptivo y analítico de 27 pacientes con atrofia maxilar severa y edentulismo parcial o total, durante 4 años de seguimiento. Todos los casos fueron tratados mediante cirugía con utilización de injertos óseos autól...

  8. Learning about Spinal Muscular Atrophy

    Science.gov (United States)

    ... News Release Fischbeck Group Learning About Spinal Muscular Atrophy What is spinal muscular atrophy? What are the ... for Spinal Muscular Atrophy What is spinal muscular atrophy? Spinal muscular atrophy is a group of inherited ...

  9. FUNCION DE SOX2 EN LA REGENERACION DE LA MEDULA ESPINAL DE XENOPUS LAEVIS

    OpenAIRE

    2010-01-01

    Los mamíferos presentan una limitada capacidad de regeneración frente a una lesión de la médula espinal, lo que impide una correcta recuperación locomotriz. Sin embargo, los renacuajos de Xenopus laevis sí son capaces de regenerar la médula espinal, pero se desconocen los mecanismos involucrados en este proceso. Es posible que esta regeneración proceda a través de la activación de células madre y progenitores neurales. Sox2 es un factor de transcripción que se expresa en las células mad...

  10. FUNCION DE SOX2 EN LA REGENERACION DE LA MEDULA ESPINAL DE XONOPUS LAEVIS

    OpenAIRE

    2010-01-01

    Los mamíferos presentan una limitada capacidad de regeneración frente a una lesión de la médula espinal, lo que impide una correcta recuperación locomotriz. Sin embargo, los renacuajos de Xenopus laevis sí son capaces de regenerar la médula espinal, pero se desconocen los mecanismos involucrados en este proceso. Es posible que esta regeneración proceda a través de la activación de células madre y progenitores neurales. Sox2 es un factor de transcripción que se expresa en las cé...

  11. Afecção do tendão supra-espinal e afastamento laboral

    OpenAIRE

    Almeida, Josiane Schadeck de; Carvalho Filho,Guaracy; Pastre, Carlos Marcelo; Lamari,Neuseli Marino; Pastre, Eliane Cristina

    2008-01-01

    As afecções do manguito rotador, dentre elas as relacionadas ao tendão supra-espinal, são problemas comuns na população, sobretudo devido à sobrecarga ocupacional, o que leva a altos índices de afastamento do trabalho. Buscou-se, então, comparar a necessidade de afastamento de trabalho entre os diferentes estados da afecção do tendão supra-espinal e entre cinco diferentes grupos profissionais, tendo a participação de pacientes que apresentavam diagnóstico da afecção. Os indivíduos foram agrup...

  12. Atrofia de íris após tratamento estético facial com luz intensa pulsada

    Directory of Open Access Journals (Sweden)

    Ângelo Ferreira Passos

    2012-06-01

    Full Text Available Relato de um caso de complicação ocular, em consequência do uso de luz intensa pulsada, para tratamento facial cosmético. A lesão consistiu em atrofia iriana no setor temporal, com grande área de transiluminação, sinéquias posteriores, deformidade e redução da dilatação pupilar. O objetivo é alertar para os riscos do procedimento para os olhos, caso não sejam tomadas as medidas adequadas de proteção ocular.

  13. Cirugía espinal:evolución y resultados

    OpenAIRE

    Candebat Candebat, Raúl Rodolfo

    2009-01-01

    La estructura de esta obra está compuesta por cinco capítulos, en la que se recopilaron nueve investigaciones de la columna vertebral, que forman la composición, el compendio de parte importante de los principales temas de lo que hoy constituye la Subespecialidad Espinal. Esta subespecialidad no estaba considerada en nuestro país, ni tampoco está totalmente certificada universalmente. Esta problemática se introdujo en el Servicio, sobre el fundamento de la hipótesis de que el estudio y tratam...

  14. Estenosis Espinal Lumbar y Claudicación Neurológica

    Directory of Open Access Journals (Sweden)

    Jaime G. Gómez

    1991-06-01

    Full Text Available

    El canal espinal está limitado hacia adelante por los cuerpos y los discos intervertebrales. Atrás lo cierran las láminas de las vértebras y en los ángulos pastero-laterales se encuentran las articulaciones zigapofisiarias. Normalmente tiene una forma redondeada con bordes lisos y bien delimitados.

    La estrechez o estenosis del canal puede ser congénita, adquirida o combinar estas dos causas para comprimir las raíces dtl la cola de caballo. La forma adquirida se presenta en enfermos con espondilo-artrosis de las articulacioneszigapofisiarias con hipertrofia de los ligamentos, formación de osteofitos y reducción progresiva del tamaño del canal.

    La estenosis espinal lumbar no es muy común en los países en donde la edad promedio es baja, pero se aumenta y constituye una de las lesiones más frecuentes en las regiones en donde la duración de vida aumenta y ocurren cambios secundarios al uso y abuso de la columna vertebral.

    En estas condiciones, una de las más frecuentes causas de dolor lumbar o de las extremidades inferiores y de dificultad en la marcha en este grupo de enfermos de la tercera edad es la estenosis del canal espinal lumbar. Esta reducción también se presenta en la región cervical y con menos frecuencia en la región toráxica en donde hay compresión de la médula espinal.

    El diagnóstico depende de las manifestaciones clínicas relacionadas con el nivel de la alteración pero en ocasiones se pueden afectar simultáneamente varios niveles de la columna vertebral. En la región lumbar hay dolor con marcado componente posicional: hay dificultad para caminar, la columna vertebral se fleja y el enfermo camina encorvado e inclinado hacia adelante...

  15. Propioceptores articulares y musculares

    OpenAIRE

    Vega, José A.

    1999-01-01

    La función de los mecanorreceptores de las articulaciones y músculos se considera asociada a la propiocepción. Sin embargo, existen evidencias de que la propiocepción no sólo depende del morfotipo de mecanorreceptor presente en dichos tejidos sino también de las propiedades de las neuronas sensitivas primarias y las fibras sensitivas asociadas a ellos, así como de su proyección sobre el asta posterior de la médula espinal. Este artículo resume las bases morfológicas de la propi...

  16. Hipertrofia muscular em desenervaçao: relato de dois casos com estudo histoquímico e histométrico dos músculos normais e hipertróficos

    OpenAIRE

    Lineu Cesar Werneck; Vicente Caropreso

    1984-01-01

    Relato de dois pacientes do sexo masculino, com 31 e 24 anos de idade, que apresentavam hipertrofia muscular localizada no membro inferior esquerdo, cuja investigação revelou sinais de desenervação pela eletromiografia. Foram submetidos a biópsia muscular no lado normal e no hipertrófico, processadas por histoquímica. Posteriormente, foi calculado o diâmetro médio das fibras, percentagem de tipo específico de fibras, fatores de atrofia e hipertrofia, bem como foi feita análise histográfica do...

  17. Anestesia espinal alta para mastoplastia reductora. Experiencia de tres años

    Directory of Open Access Journals (Sweden)

    Néstor Parets Correa

    2012-05-01

    Full Text Available Fundamento: la aplicación de anestesia neuroaxial espinal alta en las intervenciones quirúrgicas resulta un tema controversial. Objetivo: describir los resultados de la aplicación de anestesia neuroaxial espinal alta en intervenciones quirúrgicas para mastoplastia reductora. Métodos: estudio descriptivo realizado en el Hospital General Universitario Dr. Gustavo Aldereguía Lima, de Cienfuegos, desde junio de 2006 hasta junio de 2009, que incluyó 90 pacientes operadas, en las cuales se empleó anestesia neuroaxial espinal alta. Se analizaron las variables: edad, índice de masa corporal, saturación de HBO2, tensión arterial, frecuencia cardiaca, uso de analgesia preventiva, comportamiento de la  analgesia posoperatoria, estado de satisfacción, presencia de complicaciones, técnica quirúrgica, duración del acto quirúrgico y de la anestesia. Resultados: el 50 % tenía  entre 35 y 44 años; 46, 7 % estaban sobrepeso; el 80 % se operó de hipertrofia mamaria; en el 97, 8 % se utilizó la mastopalstia reductora; ninguna presentó cifras altas de tensión arterial antes ni después de la aplicación de la anestesia, el 41,1 % presentó cifras bajas de tensión arterial después de la anestesia; la frecuencia cardiaca estuvo baja en el 31, 1 % después de aplicada la anestesia y alta en el 4, 4 %. La analgesia posoperatoria fue buena en el 87, 8 % de las pacientes; no hubo compromiso ventilatorio en ningún caso y el 100 % mostró satisfacción con la técnica anestésica. Conclusiones: la aplicación de la técnica anestésica permite desarrollar exitosamente las intervenciones quirúrgicas con un mínimo de riesgos y complicaciones para las pacientes.

  18. Hematoma epidural espinal espontâneo durante a gravidez: registro de um caso

    Directory of Open Access Journals (Sweden)

    Ivan Hack

    1984-03-01

    Full Text Available Registro de caso de paciente no oitavo mês de gestação que desenvolveu hematoma epidural espinal espontâneo dorsolombar. A gravidez, determinando aumento da pressão intra-abdominal e, como consequência, aumento da pressão venosa no plexo epidural, poderia ter sido o fator desencadeante no hematoma- A paciente foi submetida a cirurgia precocemente, porém não apresentou recuperação do déficit sensitivo-motor. São discutidos aspectos clínicos, do tratamento cirúrgico, da evolução e da etiologia dos hematomas epidurals espinais espontâneos.

  19. Toxic myopathies: muscle biopsy features Miopatia tóxica: biópsia muscular

    Directory of Open Access Journals (Sweden)

    Rosana Herminia Scola

    2007-03-01

    Full Text Available Several drugs and toxic substances can cause muscular abnormalities and are frequent causes of acquired myopathies. We present a series of 32 patients, predominance of young adult patients, diagnosed with toxic myopathy. The most common substances inducing myopathy were corticosteroids (56.2% followed by the propoxyphene, neuroleptics, zidovudine and drug-induced hypokalemia. The investigation showed normal serum creatine kinase levels in 65.4%, myopathic pattern of the needle electromyography in 40% and the more frequent histological diagnosis of the muscle biopsy was type 2 fiber atrophy (59.3%. Clinical features, etiology, course of the disease, serum levels of muscular enzymes, electromyographic features and, especially, muscle biopsy features are discussed.Diversos medicamentos e substâncias tóxicas podem causar alterações musculares e são causas freqüentes de miopatia adquirida. Apresentamos uma série de 32 pacientes, predomínio de pacientes adulto jovens, com miopatia tóxica. As substâncias mais relacionadas com a miopatia foram os corticosteróides (56,2% seguidos pelo propoxifeno, neurolépticos, zidovudina e drogas indutoras de hipocalemia. A investigação mostrou níveis normais de creatino quinase sérica em 65,4%, eletromiografia de agulha com padrão miopático em 40% e o mais freqüente diagnóstico histológico da biópsia muscular foi atrofia de fibras do tipo 2 (59,3%. As manifestações clínicas, etiologia, tempo de evolução, nível sérico das enzimas musculares, alterações da eletroneuromiografia e, especialmente, da biópsia muscular são discutidos.

  20. Muscular Dystrophy Association

    Science.gov (United States)

    ... Families Live Unlimited Read More Deflazacort demonstrates significant muscle strength improvement in DMD Read More NDA Filing ... the Boot to Support Kids and Adults with Muscular Dystrophy, ALS and Related Diseases Read More Visit ...

  1. Spinal Muscular Atrophy

    Science.gov (United States)

    Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your ...

  2. Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

    Science.gov (United States)

    2016-08-26

    Myotonic Dystrophy; Facioscapulohumeral Muscular Dystrophy; Muscular Dystrophy; Myotonic Dystrophy Type 1; Myotonic Dystrophy Type 2; Congenital Myotonic Dystrophy; PROMM (Proximal Myotonic Myopathy); Steinert's Disease; Myotonic Muscular Dystrophy

  3. Dismorfia muscular Muscle dysmorphia

    Directory of Open Access Journals (Sweden)

    Sheila Seleri Marques Assunção

    2002-12-01

    Full Text Available Preocupações mórbidas com a imagem corporal eram tidas até recentemente como problemas eminentemente femininos. Atualmente estas preocupações também têm sido encontradas no sexo masculino. A dismorfia muscular é um subtipo do transtorno dismórfico corporal que ocorre principalmente em homens que, apesar da grande hipertrofia muscular, consideram-se pequenos e fracos. Além de estar associada a prejuízos sociais, ocupacionais, recreativos e em outras áreas do funcionamento do indivíduo, a dismorfia muscular é também um fator de risco para o abuso de esteróides anabolizantes. Este artigo aborda aspectos epidemiológicos, etiológicos e padrões clínicos da dismorfia muscular, além de tecer comentários sobre estratégias de tratamento para este transtorno.Morbid concern over body image was considered, until recently, a female issue. Nowadays, it has been viewed as a common male disorder. Muscle dysmorphia, a subtype of a body dysmorphic disorder, affects men who, despite having clear muscular hypertroph,y see themselves as frail and small. Besides being associated to major social, leisure and occupational dysfunction, muscle dysmorphia is also a risk factor for the abuse of steroids. This article describes epidemiological, etiological and clinical characteristics of muscle dysmorphia and comments on its treatment strategy.

  4. Diffusion tensor imaging of the spinal cord: a review Imagen de difusión tensora de la médula espinal: una revisión Imagem da medula espinal por tensor de difusão

    Directory of Open Access Journals (Sweden)

    Aditya Vedantam

    2013-01-01

    Full Text Available Diffusion tensor imaging (DTI is a magnetic resonance technique capable of measuring the magnitude and direction of water molecule diffusion in various tissues. The use of DTI is being expanded to evaluate a variety of spinal cord disorders both for prognostication and to guide therapy. The purpose of this article is to review the literature on spinal cord DTI in both animal models and humans in different neurosurgical conditions. DTI of the spinal cord shows promise in traumatic spinal cord injury, cervical spondylotic myelopathy, and intramedullary tumors. However, scanning protocols and image processing need to be refined and standardized.La técnica de imagen por difusión tensora (DTI, Diffusion tensor imaging es una técnica de resonancia magnética que mide la magnitud y dirección de la difusión de moléculas de agua en varios tejidos. El uso de DTI se ha expandido para evaluar una variedad de disturbios de la columna vertebral tanto para pronóstico como para orientación de la terapia. La finalidad de este artículo es revisar la literatura sobre DTI de la médula espinal tanto en modelos animales como en humanos en diferentes condiciones neuroquirúrgicas. La DTI de la médula espinal se muestra promisora en las lesiones traumáticas de la médula, en la mielopatía espondilótica cervical y en los tumores intramedulares. Sin embargo, los protocolos de barrido y el procesamiento de imágenes necesitan ser refinados y estandarizados.O exame por imagem de ressonância magnética utilizando a técnica de tensores de difusão (DTI, Diffusion tensor imaging consegue medir a magnitude e direção da difusão de moléculas de água em vários tecidos. A DTI está começando a ser usada para avaliar uma série de patologias da medula espinal, tanto para prognósticos como para orientar o tratamento. O presente artigo revisa a literatura sobre DTI da medula espinhal, em modelos animais e humanos, em diferentes condições neurocirúrgicas. A

  5. Nanoparticulas basadas en complejos de Fe(II) con transicion de espin: sintesis, caracterizacion y aplicaciones en electronica molecular

    Science.gov (United States)

    Monrabal Capilla, Maria

    Esta tesis doctoral esta organizada en 5 capitulos y esta destinada al estudio de sistemas de Fe (II) que presentan el fenomeno de la transicion de espin a escala nanometrica. El capitulo 1 contiene una introduccion general sobre materiales moleculares multifuncionales, destacando aquellos ejemplos mas importantes. Por otro lado, se explicara el fenomeno de la transicion de espin, tratando aspectos conceptuales, los antecedentes mas importantes y la situacion actual. En el capitulo 2 se describen los diferentes procesos existentes para la obtencion de diferentes tipos de nanoparticulas. Ademas, se presenta la sintesis y caracterizacion de nanoparticulas del polimero de coordinacion unidimensional [Fe(Htrz)2(trz)]BF4, obtenidas mediante el metodo de micelas inversas. Estas nanoparticulas, con una estrecha distribucion de tamanos centrada alrededor de los 11 nm, presentan una transicion de espin muy abrupta, con un ancho ciclo de histeresis termica de unos 40K. En el capitulo 3 se describe el proceso de modificacion del tamano de las nanoparticulas descritas en el capitulo anterior, llevado a cabo variando la proporcion de surfactante/H2O en el medio. Ademas, con el objetivo de modificar las propiedades magneticas de las nanoparticulas obtenidas en el capitulo 2, se lleva a cabo la sintesis de nanoparticulas de polimeros de la misma familia del [Fe(Htrz)2(trz)]BF4. En concreto se sintetizaron 3 nuevos tipos de nanoparticulas basadas en el polimero [Fe(Htrz)1-x(NH2trz)x](ClO4)2, siendo x = 0.05, 0.15 y 0.3, en cada caso. Estas nanoparticulas siguen presentando una estrecha distribucion de tamanos y una transicion de espin muy abrupta y con un ancho ciclo de histeresis. Ademas, se observa que este ciclo se desplaza a temperaturas mas proximas a la temperatura ambiente a medida que se aumenta el porcentaje de 4-amino-1, 2, 4- triazol en la muestra. Pero al mismo tiempo se produce una disminucion de la anchura de este ciclo. Por ultimo, en este capitulo se presenta la

  6. Evaluation of Limb-Girdle Muscular Dystrophy

    Science.gov (United States)

    2014-03-06

    Becker Muscular Dystrophy; Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency); Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency); Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)

  7. Effects of electrical stimulation and stretching on the adaptation of denervated skeletal muscle: implications for physical therapy Efeitos da eletroestimulação e do alongamento muscular sobre a adaptação do músculo desnervado: implicações para a fisioterapia

    Directory of Open Access Journals (Sweden)

    Tania F. Salvini

    2012-06-01

    Full Text Available BACKGROUND: This review will describe the main cellular mechanisms involved in the reduction and increase of myoproteins synthesis commonly associated with muscle atrophy and hypertrophy, respectively. OBJECTIVE: We analyzed the effects of electrical stimulation (ES and stretching exercise on the molecular pathways involved in muscle atrophy and hypertrophy. We also described the main effects and limits of these resources in the skeletal muscle, particularly on the denervated muscle. DISCUSSION: Recently, our studies showed that the ES applied in a similar manner as performed in clinical practice is able to attenuate the increase of genes expression involved in muscle atrophy. However, ES was not effective to prevent the loss of muscle mass caused by denervation. Regarding to stretching exercises, their mechanisms of action on the denervated muscle are not fully understood and studies on this area are scarce. Studies from our laboratory have found that stretching exercise increased the extracellular matrix remodeling and decreased genes expression related to atrophy in denervated muscle. Nevertheless, it was not enough to prevent muscle atrophy after denervation. CONCLUSIONS: In spite of the use of stretching exercise and ES in clinical practice in order to minimize the atrophy of denervated muscle, there is still lack of scientific evidence to justify the effectiveness of these resources to prevent muscle atrophy in denervated muscle.CONTEXTUALIZAÇÃO: Esta revisão abordará os principais mecanismos celulares envolvidos na redução e aumento da síntese de mioproteínas comumente associadas às situações de atrofia e hipertrofia muscular, respectivamente. OBJETIVO: Analisaremos os efeitos da estimulação elétrica (EE e do exercício de alongamento sobre as vias moleculares envolvidas na atrofia e hipertrofia muscular. Serão descritos os principais efeitos e os limites desses recursos no músculo esquelético, particularmente sobre o m

  8. Pertinencia del uso de implantes dentales cortos en pacientes con atrofia ósea severa: revisión de la literatura

    OpenAIRE

    R. Azañón Hernández; I. Martínez Lara; J. Ferrer Gallego; R. Marzo Alzota

    2013-01-01

    El propósito de este artículo es determinar la pertinencia del uso de implantes cortos, definiéndolos como "aquellos cuya longitud es ≤8 mm" a través de la bibliografía existente. Hemos centrado la búsqueda en la comparación del uso de implantes de esta longitud, frente a otros tratamientos alternativos (injertos óseos, elevación de seno, transposición del nervio dentario, etc.) en pacientes con atrofia maxilar severa. Se dan respuesta a las siguientes cuestiones: ¿El uso de implantes dentale...

  9. Avaliação da dor em doentes com atrofia de sistemas múltiplos : estudo comparativo com a doença de Parkinson

    OpenAIRE

    Pinheiro, Sara Figueira da Câmara Lomelino

    2016-01-01

    Trabalho final de mestrado integrado em Medicina área cientifica de Neurologia, apresentado á Faculdade de Medicina da Universidade de Coimbra Introdução: A dor é um sintoma comum nos distúrbios Parkinsónicos, típicos e atípicos, influenciando negativamente a qualidade de vida destes doentes. Objectivo: Analisar a prevalência e as características da dor em doentes com Atrofia de Sistemas Múltiplos, comparando os resultados obtidos com a Doença de Parkinson. Métodos: Inclusão de 20 do...

  10. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-09-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy.

  11. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

  12. Dismorfia muscular Muscle dysmorphia

    OpenAIRE

    Sheila Seleri Marques Assunção

    2002-01-01

    Preocupações mórbidas com a imagem corporal eram tidas até recentemente como problemas eminentemente femininos. Atualmente estas preocupações também têm sido encontradas no sexo masculino. A dismorfia muscular é um subtipo do transtorno dismórfico corporal que ocorre principalmente em homens que, apesar da grande hipertrofia muscular, consideram-se pequenos e fracos. Além de estar associada a prejuízos sociais, ocupacionais, recreativos e em outras áreas do funcionamento do indivíduo, a dismo...

  13. Perfil funcional de atletas de basquetebol com traumatismo da medula espinal de acordo com a cif

    Directory of Open Access Journals (Sweden)

    Andersom Ricardo Frez

    2014-01-01

    Full Text Available INTRODUÇÃO: A Classificação Internacional de Funcionalidade, Incapacidade e Saúde considera os múltiplos aspectos da funcionalidade; acredita-se que essa ferramenta possa contribuir para avaliar atletas com incapacidades. OBJETIVO: Determinar o perfil funcional de jogadores de basquete em cadeira de rodas de acordo com o core set da Classificação Internacional de Funcionalidade, Incapacidade e Saúde para indivíduos com traumatismo da medula espinal (TME. MÉTODOS: Foi realizado um estudo transversal com 12 atletas com TME, jogadores de basquete em cadeira de rodas. A funcionalidade foi classificada pela versão abreviada do core set para indivíduos com TME crônico, que contém 33 categorias. Estas foram consideradas válidas se apresentassem ao menos 20% dos atletas com algum grau de incapacidade (de acordo com os qualificadores da CIF. RESULTADOS: Das 33 categorias avaliadas, 31 (93,9% foram representativas para a amostra. Apenas as categorias b710 e e340 não foram consideradas válidas. Em sete categorias todos os atletas apresentaram algum grau de comprometimento (s120, d455, d465, d530, e115, e150 e e580. Porém, os maiores comprometimentos foram observados nas categorias: s120, d455, d465, e115 e e120. CONCLUSÃO: Os atletas apresentaram diferentes comprometimentos funcionais, entretanto tais limitações não os impedem de praticar a modalidade esportiva.

  14. Extra and intradural spinal Hemangioblastoma Hemangioblastoma espinal extra e intradural Hemangioblastoma espinhal extra e intradural

    Directory of Open Access Journals (Sweden)

    Marcelo Campos Moraes Amato

    2012-09-01

    /intradural, muy acrecentada, con forma de ampolla y lobulada, la cual ocupaba el conducto espinal y ensanchaba el agujero intervertebral derecho C4-C5. La resección de la lesión intradural fue conseguida mediante un abordaje posterior, pero la parte extradural solamente pudo ser removida parcialmente. La mejoría completa fue observada después de cuatro meses de seguimiento y el tumor residual ha sido acompañado clínica y radiológicamente. Aunque la impresión preoperatoria era de schwannoma espinal, el examen histopatológico reveló hemangioblastoma grado I según la Organización Mundial de la Salud. A pesar de su rareza, los actuales exámenes complementarios permiten considerar, preoperativamente, el diagnóstico de hemangioblastoma. Esto es esencial para hacer un mejor planeamiento quirúrgico, teniendo en cuenta los aspectos quirúrgicos peculiares de esta lesión.Hemangioblastomas do sistema nervoso central são lesões de baixo grau de malignidade, altamente vascularizadas, que podem se apresentar esporadicamente ou associadas com a doença de Von Hippel-Lindau. Hemangioblastomas extradurais são incomuns e os extra e intradurais são ainda mais raros. Este estudo usa um caso ilustrativo e revisão da literatura para discutir as dificuldades de considerar o diagnóstico correto e selecionar a melhor abordagem cirúrgica. Um paciente do sexo masculino, branco, com 57 anos de idade apresentou-se com mielopatia e radiculopatia de C5 à direita. As imagens mostraram lesão extra-intradural lobulada, em forma de ampulheta, com alta impregnação após contraste, que ocupava o canal vertebral e estreitava o forame intervertebral de C4-C5 à direita. A ressecção total da lesão intradural foi alcançada através de abordagem posterior, mas a porção extradural só pôde ser parcialmente removida. Melhora total dos sintomas foi observada após quatro meses e o tumor residual tem sido seguido clínica e radiologicamente. Embora a impressão pré-operatória tenha sido de

  15. Venus y Vulcano de Juan Espinal: precisiones sobre su iconografía y medio artístico = Venus and Vulcan by Juan Espinal: details on the iconography and artistic medium

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    Cabezas García, Álvaro

    2015-09-01

    Full Text Available Resumen: En las siguientes páginas se ofrece una nueva lectura iconográfica del lienzo de Juan Espinal conservado en el Museo de Bellas Artes de Sevilla Venus y Vulcano. Los indicios apuntan a que esta pintura estaría representando el momento en el que el dios herrero entrega a su esposa las armas que ella le ha solicitado para su hijo Eneas en los momentos en los que el héroe, después de llegar al Lacio, se dispone a fundar una nueva civilización. Además de esto, se precisan determinados aspectos sobre las circunstancias y la cronología de su realización artística. Abstract: The following pages provides a new iconographic reading of an lienzo preserved in the Museo de Bellas Artes of Seville: Venus and Vulcan of Juan Espinal. Signs point to that in this painting would be represented the time in which the divino blacksmith delivers his wife the weapons that she has asked for her son Aeneas in the moments in which the hero, after arriving at Lazio, is available to found a new civilization. It also addresses certain aspects about the circumstances and chronology of his artistic preparation.

  16. Limb girdle muscular dystrophies

    DEFF Research Database (Denmark)

    Vissing, John

    2016-01-01

    PURPOSE OF REVIEW: The aim of the study was to describe the clinical spectrum of limb girdle muscular dystrophies (LGMDs), the pitfalls of the current classification system for LGMDs, and emerging therapies for these conditions. RECENT FINDINGS: Close to half of all LGMD subtypes have been...

  17. Meaning of Muscular Dystrophy

    Science.gov (United States)

    ... MD Living With MD en español Qué significa distrofia muscular Over Labor Day, just as you're going ... blood test if a kid has Becker or Duchenne MD. Or the doctor might take a small piece of the muscle and look at it under a microscope to ...

  18. Meaning of Muscular Dystrophy

    Science.gov (United States)

    ... MD Living With MD en español Qué significa distrofia muscular Over Labor Day, just as you're ... grown-up. This article talks about two types: Duchenne and Becker MD. Generally, only boys get Duchenne ...

  19. Thymic atrophy in cattle poisoned with Solanum glaucophyllum Atrofia do timo em bovinos intoxicados por Solanum glaucophyllum

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    Paula A. Fontana

    2009-03-01

    metabolismo ósseo, o metabolismo de cálcio e também mostra efeitos na imunomodulação. Precursores de timócitos derivados da medula óssea se diferenciam em linfócitos T maduros. A diferenciação da maioria dos linfócitos T é caracterizada pela expressão variável de moléculas de receptores CD4/CD8 e densidade aumentada dos receptores antigênicos de superfície de células T. Alem disso, há mudanças no padrão de glicosilação de glicolipídeos na superfície celular ou de glicoproteínas. Timócitos mostram uma influência de retro alimentação em células tímicas não-linfóides. Foram analisadas modificações induzidas pelo Sg em linfócitos T e células tímicas não-linfóides de bovinos. Novilhas foram divididas em 5 grupos (controle, intoxicadas com Sg durante 15, 30 ou 60 dias, e grupo provavelmente recuperado. As diferentes populações celulares das novilhas experimentais foram caracterizadas com técnicas histoquímicas, imuno-histoquímicas, lectina-histoquímicas e morfométricas. As novilhas intoxicadas com Sg mostraram uma atrofia cortical progressiva que foi caracterizada usando a lectina aglutinina de amendoim (PNA que reconhece timócitos imaturos. Estes animais também aumentaram as células não-linfóides tímicas por unidade de área, detectadas com a técnica de Picrosirius, lectinas WGA e DBA e anticorpos antipancitoqueratina e anti-S-100. A atrofia de timo observada nos animais intoxicados foi semelhante àquela do processo de envelhecimento fisiológico. Após supressão da intoxicação, foi observado um efeito de reversão nestas mudanças. Estes resultados sugerem que a intoxicação por Sg induza a alteração observada no timo diretamente, pela ação de 1,25-dihidroxivitamina D3, ou indiretamente, pela ação da hipercalcemia.

  20. Estructura y diversidad de dos fragmentos del bosque de Espinal en Córdoba, un ecosistema amenazado

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    Imanuel Noy-Meir

    2012-06-01

    Full Text Available A principios del siglo XX, Córdoba contaba con extensas superficies boscosas. Hoy, debido al desmonte masivo y a la expansión agrícola, ostenta una de las mayores tasas de deforestación mundial, quedando sólo pequeños fragmentos de bosque del Espinal. Esta problemática motivó la investigación de la estructura, composición florística y diversidad de dos fragmentos de bosque de Espinal existentes en la Universidad Católica de Córdoba. Se midió la estructura arbórea a lo largo de toda la superficie de los fragmentos en cuadrados de 20 × 20 m. En cada fragmento se realizaron relevamientos florísticos completos en 10 de los cuadrados seleccionados al azar. Del total de árboles, se registró 45% de Prosopis spp., 17% de Celtis ehrenbergiana, 15% de Acacia spp., 14% de Geoffraea decorticans, 7% de otras nativas y 2% de exóticas. La riqueza promedio por cuadrado fue de 74,9 especies, siendo mayor en la periferia que en el centro del fragmento, y diferente entre los dos fragmentos. Se encontraron diferencias en la composición florística entre el sector periférico y central de los fragmentos y entre los dos fragmentos. Estos resultados proveen información útil para el manejo y restauración uno de los ecosistemas más amenazados de Argentina.Structure and diversity of two woodland fragments of Espinal in Córdoba, a threatened ecosystem. At the beginning of XX century, Córdoba had extensive woodland areas. At present, due to massive deforestation and agriculture expansions, it has one of the highest rates of global deforestation, leaving only small fragments of Espinal woodland. This problem led to the investigation of structure, floristic composition and diversity of two woodland fragments of Espinal present at the Catholic University of Córdoba. We measured woodland structure over the entire surface of the fragments in squares of 20 × 20 m. In each fragment we performed complete floristic surveys in 10 randomly selected

  1. Ullrich Congenital Muscular Dystrophy

    OpenAIRE

    2011-01-01

    ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure espe...

  2. Diagnóstico diferencial das distrofias musculares com referência especial às alterações enzimáticas

    Directory of Open Access Journals (Sweden)

    H. Heick

    1967-06-01

    Full Text Available Depois de apresentar os dados clínicos e genéticos relativos a 221 casos de distrofia muscular progressiva (125 casos do tipo Duchenne, 63 do tipo cintura pélvica e 25 do tipo fácio-escápulo-umeral, os autores analisam os resultados das dosagens sôro-enzimáticas que fizeram; em alguns casos foram pesquisas também as atividades de 25 enzimas em homogeneizados de tecido muscular. Os mesmos exames foram feitos em casos de miopatias de outra etiologia e de distrofias musculares neuropáticas e mielopáticas. Foi verificado que o teor das sôro-enzimas aumenta em todas as formas de distrofia muscular progressiva hereditária. No tipo Duchenne as-atividades enzimáticas são elevadas desde o nascimento das crianças acometidas, precedendo o aparecimento da sintomatologia clínica. Com o progredir da moléstia e com o decorrer dos anos os teores sôro-enzimáticos tendem a diminuir, podendo reduzir-se aos valores normais nas fases finais da moléstia. No tecido muscular não existe diferença significante, no que respeita à composição enzimática, entre os diversos tipos de distrofia muscular progressiva e hereditária. Com exceção de poucas enzimas cuja atividade é maior nos tecidos conjuntivo e adiposo que progressivamente substituem o tecido muscular que entra em atrofia, o teor das mio-enzimas diminui com o progredir da moléstia, como expressão do crescente esgotamento do citoplasma da célula muscular. Nas distrofias musculares neuropáticas e mielopáticas as alterações são idênticas, embora de menor intensidade. Algumas diferenças quantitativas podem ser explicadas pela idade dos pacientes e pela intensidade do processo. A mesma diferença pode ser demonstrada mediante exames histopatológicos: nas formas que acometem crianças (Werdnig-Hoffmann as fibras musculares ainda não denervadas se apresentam com aspecto normal, ao passo que, nas formas do adulto (Kugelberg-Welander, possivelmente pelo desgaste provocado pelos esfor

  3. Hipertrofia muscular em desenervaçao: relato de dois casos com estudo histoquímico e histométrico dos músculos normais e hipertróficos

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    Lineu Cesar Werneck

    1984-09-01

    Full Text Available Relato de dois pacientes do sexo masculino, com 31 e 24 anos de idade, que apresentavam hipertrofia muscular localizada no membro inferior esquerdo, cuja investigação revelou sinais de desenervação pela eletromiografia. Foram submetidos a biópsia muscular no lado normal e no hipertrófico, processadas por histoquímica. Posteriormente, foi calculado o diâmetro médio das fibras, percentagem de tipo específico de fibras, fatores de atrofia e hipertrofia, bem como foi feita análise histográfica dos tipos de fibras. Foi encontrada grande quantidade de fibras hipertróficas, raras fibras atróficas e, na diferenciação histoquímica, um dos pacientes apresentava hipertrofia de fibras do tipo II e o outro hipertrofia tanto de fibras do tipo I, como II. Pelo cálculo dos fatores de atrofia e hipertrofia, existia predominantemente hipertrofia de fibras do tipo II em ambos os quadriceps nos dois casos e hipertrofia de fibras do tipol no caso 2. São discutidos os fatores causadores de hipertrofia em desenervação sendo que no caso 1 a etiologia foi possivelmente radiculite de SI e, no caso 2, secundária a doença do neurônio motor inferior.

  4. Temporal evolution of litterfall and potential bio-element return in a successional forest sequence of the Espinal Ecoregion, Argentina

    Directory of Open Access Journals (Sweden)

    Carlos A. Mendoza

    2014-12-01

    Full Text Available Aim of study: The aim of this work was to assess the litterfall contribution and the return of bioelements of a successional forest sequence from the Mesopotamian Espinal (Argentina which was associated with livestock production.Area of study: Mesopotamian Espinal, Argentina.Material and methods: Litterfall samples were taken and a chemical characterization of their fractions was determined in three stages: a in the initial successional stage (IF; b in an intermediate secondary forest (SF; and c in a mature forest (MF.Main results: The litterfall contribution of the three forests was 1140 ±98, 2947 ±154, and 2911 ±57 kg DM ha-1 yr-1; respectively. The IF showed a seasonal pattern of contribution with a peak occurring during summer (528 ±85 kg DM ha-1 yr-1, then decreasing during autumn, winter, and spring (241 ±30, 165 ±27, and 207 ±29 kg DM ha-1 season-1,respectively. The SF showed a rather constant seasonal pattern (about 750 kg DM season-1. The MF showed significant differences among seasons, the maximum and minimum contributions ranging between 846 ±29 and 598 ±33 kg DM ha-1 season-1 in summer and spring, respectively. The litterfall leaves/branch ratio decreased as ecological succession advanced, being lower as the forest gets more mature. As a consequence, this ratio can be used as an indicator of maturity in the sequence. The potential return of bio-elements of the successional forest sequence was proportional to the litterfall input, with a maximum amount of N in the Fabaceae species. Research highlights: The litterfall assessment and the leaves/branch ratio allowed the characterization of the successional stages in Xerophytic forest used for livestock production. Keywords: Semi-xerophytic trees; tree production pattern; plant organ contribution; leaf/branch ratio; return of bio-elements; tree nutrients.

  5. Pertinencia del uso de implantes dentales cortos en pacientes con atrofia ósea severa: revisión de la literatura

    Directory of Open Access Journals (Sweden)

    R. Azañón Hernández

    2013-12-01

    Full Text Available El propósito de este artículo es determinar la pertinencia del uso de implantes cortos, definiéndolos como "aquellos cuya longitud es ≤8 mm" a través de la bibliografía existente. Hemos centrado la búsqueda en la comparación del uso de implantes de esta longitud, frente a otros tratamientos alternativos (injertos óseos, elevación de seno, transposición del nervio dentario, etc. en pacientes con atrofia maxilar severa. Se dan respuesta a las siguientes cuestiones: ¿El uso de implantes dentales cortos es un tratamiento de resultados previsibles? ¿Los porcentajes de éxito a medio y largo plazo son equiparables a los de implantes con una longitud media estándar? ¿Pueden sustituir en determinadas situaciones clínicas a técnicas quirúrgicas avanzadas (injertos óseos, elevación de seno, distalización del nervio dentario disminuyendo con ello la morbilidad, los tiempos en la rehabilitación y los costes para el paciente? ¿Se requiere de un protocolo clínico y prostético específico para garantizar el éxito en la rehabilitación? ¿En qué casos de atrofia maxilar se contraindica esta técnica a favor de otras como son los implantes cigomáticos o los injertos óseos? A través de una búsqueda cuasi-sistemática en metabuscadores, agencias de evidencias (revisiones sistemáticas y bases de datos bibliográficos, exponemos la evolución de la evidencia al respecto, los últimos datos publicados y las conclusiones obtenidas.

  6. Cholelithiasis with atrophy of the right lateral hepatic lobe in a horse Colelitíase com atrofia do lobo lateral direito em um cavalo

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    Renato de Lima Santos

    2007-04-01

    Full Text Available A 22 year-old horse developed cholelithiasis with marked atrophy of the right lateral hepatic lobe. The horse had a history of intermittent colic since three years of age, and one of the first episodes of colic was associated with icterus. The size of the right lateral hepatic lobe was extremely reduced. There was a large choledocholith in the common hepatic duct, and several hepatoliths and choleliths in the intra- and extra-hepatic billiary ducts. Microscopically, there was severe atrophy of the right lobe with diffuse proliferation of connective tissue and billiary ducts. The left lateral lobe had peri-portal fibrosis with proliferation of billiary ducts, and billiary stasis. Chemical analysis of the calculi detected amorphous and triple phosphate, bilirubin, calcium, and iron.Um cavalo de 22 anos de idade desenvolveu quadro de colelitíase severa com atrofia do lobo lateral direito. O animal tinha histórico de cólica recorrente, desde os três anos de idade, sendo que um dos primeiros episódios de cólica foi acompanhado de icterícia. O lobo hepático lateral direito estava extremamente diminuído de volume. Havia um grande coledocólito localizado no ducto hepático comum e inúmeros hepatólitos e colélitos nos ductos biliares intra e extra-hepáticos. Microscopicamente, foi observada atrofia acentuada do lobo direito, com proliferação difusa de tecido conjuntivo fibroso e de ductos biliares. O lobo lateral esquerdo apresentava fibrose periportal difusa associada à proliferação acentuada de ductos biliares e estase biliar. Análise química das concreções detectou fosfato triplo e amorfo, bilirrubina, cálcio e ferro.

  7. Muscle diseases: the muscular dystrophies.

    Science.gov (United States)

    McNally, Elizabeth M; Pytel, Peter

    2007-01-01

    Dystrophic muscle disease can occur at any age. Early- or childhood-onset muscular dystrophies may be associated with profound loss of muscle function, affecting ambulation, posture, and cardiac and respiratory function. Late-onset muscular dystrophies or myopathies may be mild and associated with slight weakness and an inability to increase muscle mass. The phenotype of muscular dystrophy is an endpoint that arises from a diverse set of genetic pathways. Genes associated with muscular dystrophies encode proteins of the plasma membrane and extracellular matrix, and the sarcomere and Z band, as well as nuclear membrane components. Because muscle has such distinctive structural and regenerative properties, many of the genes implicated in these disorders target pathways unique to muscle or more highly expressed in muscle. This chapter reviews the basic structural properties of muscle and genetic mechanisms that lead to myopathy and muscular dystrophies that affect all age groups.

  8. Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach Distrofia muscular de Duchenne e Becker: abordagem molecular e imuno-histoquímica

    Directory of Open Access Journals (Sweden)

    Aline Andrade Freund

    2007-03-01

    biópsia muscular tiveram outros diagnósticos (atrofia muscular espinhal, miopatia congênita, deficiência de sarcoglicanos, distrofia de cinturas-membros sem classificação. A análise imuno-histoquímica para distrofina na biópsia muscular continua sendo o método mais específico para diagnóstico de DMD/DMB e deve ser utilizado quando não são encontradas deleções do gene da distrophina no sangue.

  9. Hematoma epidural secundario a anestesia espinal: Tratamiento conservador Epidural hematoma secondary to spinal anesthesia: Conservative treatment

    Directory of Open Access Journals (Sweden)

    M. Bermejo

    2004-11-01

    Full Text Available Introducción: El hematoma epidural secundario a una anestesia neuroaxial es una complicación poco frecuente, pero de gran trascendencia tanto por sus implicaciones clínicas como por las médico legales; según algunos autores su incidencia puede oscilar entre 1/190.000-1/200.000 para las punciones peridurales y 1/320.000 en el caso de las espinales. El aspecto prioritario en su manejo terapéutico es el del diagnóstico y tratamiento precoz, antes de las 6-12 primeras horas. No obstante, en determinados pacientes como en el caso que presentamos puede no ser precisa la cirugía, resolviéndose el cuadro con tratamiento conservador. Caso clínico: Varón de 73 años, ASA IV, con antecedentes de cirrosis con hipertensión portal, hiperesplenismo, EPOC, obesidad, cardiopatía hipertensiva e insuficiencia tricuspídea. Se programa para alcoholización prostática al haber sido desechada la cirugía. En la analítica preoperatoria destacaba una actividad de protrombina del 80% y 90.000 plaquetas. Se realizaron varios intentos fallidos de punción espinal, finalmente fue precisa una anestesia general con ventilación espontánea mediante mascarilla laríngea, propofol, fentanilo y sevoflurano. A las 36 horas, comienza la clínica en forma de dolor intenso lumbar, sin irradiación y arreflexia cutáneo plantar, confirmándose en la RMN la presencia de un hematoma epidural de L1 a L4. Ante la ausencia de paraparesia flácida, afectación esfinteriana u otros signos sensitivo-motores y tras consulta con la Unidad de Raquis y con el Servicio de Neurología se decide tratamiento conservador y actitud expectante en forma de analgesia y monitorización neurológica estricta, clínica y radiológica. Evolucionando favorablemente en los siguientes días. Discusión: Determinadas condiciones clínicas pueden influir en la aparición de un hematoma tras la realización de un bloqueo regional central: heparinas de bajo peso molecular, punciones dificultosas

  10. Heterogeneidade genética em atrofia óptica autossômica dominante Genetic heterogeneity in autosomal dominant optic atrophy

    Directory of Open Access Journals (Sweden)

    Juliana Maria Ferraz Sallum

    2002-08-01

    Full Text Available Objetivos: A atrofia óptica autossômica dominante, tipo Kjer ou juvenil, é neuropatia óptica hereditária que causa perda de acuidade visual, anormalidades da visão de cores e defeitos do campo visual, caracterizada por palidez do disco óptico. O gene desta doença foi mapeado por análise de ligação genética em um intervalo de 1,4 cM no cromossomo 3q28-29 entre os marcadores microssatélites D3S3669 e D3S3562. Embora a maioria das famílias estudadas tenha mostrado ligação para a região cromossômica 3q28-29, uma família foi mapeada no cromossomo 18q12.2-12.3. Este trabalho analisa a ligação da atrofia óptica em três famílias com marcadores polimórficos para os cromossomos 3q28-29 e 18q12.2-12.3. Métodos: Cinqüenta e sete indivíduos de três famílias foram submetidos a exame oftalmológico e coleta de sangue. O DNA foi extraído e amplificado em reações de polimerase em cadeia (PCR com marcadores polimórficos para os cromossomos 3q28-29 e 18q12.2-12.3. Os fragmentos de PCR foram mensurados em seqüenciador automático (373 DNA sequencer. Estes números foram utilizados como alelos para análise de haplótipos. Os "lod scores" foram calculados pelo programa MLINK. Resultados: Na primeira família houve suspeita da atrofia óptica mapear para o cromossomo 3q28-29, mas sem significância estatística no valor do "lod score". Na segunda família a atrofia óptica apresentou ligação para este locus. Os eventos de recombinação nesta família localizaram o gene num intervalo de 2 cM entre os marcadores D3S3669 e D3S2305. O "lod score" máximo obtido foi de 3,56 no theta de 0,00 com o marcador D3S3669. A terceira família não apresentou ligação nos cromossomos 3q28-29 e 18q12.2-12.3. Conclusão: O fato da terceira família não mapear para nenhum dos dois loci já descritos é indicativo de que existe heterogeneidade genética na atrofia óptica autossômica dominante e levanta a possibilidade de existir um terceiro

  11. Electroestimulación neuromuscular intradiálisis, fuerza muscular, capacidad funcional y composición corporal

    Directory of Open Access Journals (Sweden)

    Sandra Rubio Páez

    2015-12-01

    Full Text Available Introducción: La capacidad funcional disminuida y la importante atrofia muscular caracterizan a los pacientes en hemodiálisis (HD. El ejercicio físico intradiálisis y recientemente la electroestimulación neuromuscular (EMS, representan dos serias opciones terapéuticas para mejorar esta deteriorada condición física. Actualmente, no existen estudios publicados sobre el papel de la EMS y la composición corporal en los pacientes en HD. Objetivo: Analizar que efecto produce un programa de EMS sobre la fuerza muscular, capacidad funcional, parámetros nutricionales y composición corporal en nuestros pacientes en HD. Material y Métodos: Estudio unicéntrico, prospectivo de 12 semanas de duración. Los pacientes incluidos realizaron un programa adaptativo de EMS en ambos cuádriceps intradiálisis mediante el dispositivo Compex R Theta 500i. Analizamos: 1.- Parámetros nutricionales (Albumina, pre albúmina, triglicéridos, colesterol total y fracciones, ferritina y Proteína C reactiva. 2.- Datos musculares: Composición muscular cuadriceps, Fuerza extensión máxima cuádriceps (FEMQ y handgrip (HG brazo dominante. 3.- Test funcionales: "Sit to stand to sit" (STS10 y "six-minutes walking test" (6MWT. 4.- Composición corporal mediante biompedancia electrica (BIA. Resultados: 13 pacientes incluidos: (69.2% hombres. Edad media: 65.7 años y 33.9 meses en HD. I.Charlson medio 9.1. La principal etiología de la ERC fue la DM (38.5%. Al final del estudio se observó una mejoría en (*p<0.05: FEMQ* (11.7±7.1 vs 13.4±7.4 Kg, STS10 (39.3±15.5 vs 35.8±13.7 seg, 6MWT* (9.9%, 293.2 vs 325.2 m. En relación a la composición corporal, se observó únicamente un aumento significativo del área muscular (AMQ*: 128.6 ± 30.2 vs 144.6 ± 22.4 cm² y una disminución del área grasa (AGQ*: 76.5 ± 26.9 vs 62.1 ± 20.1 cm² a nivel quadricipital, sin cambios en el resto de datos analizados (% grasa abdominal, peso graso, peso magro, agua corporal total

  12. Análise da freqüência de trombofilia em pacientes com atrofia branca de Milian Frequency analysis of thrombophilia in patients with atrophie blanche

    Directory of Open Access Journals (Sweden)

    Aline Donati Jorge

    2007-02-01

    Full Text Available FUNDAMENTOS - Atrofia branca de Milian ou vasculopatia livedóide é entidade clinicopatológica rara, cuja patogênese não é completamente compreendida. OBJETIVOS - Avaliar casos de atrofia branca de Milian para verificar a prevalência de diversas trombofilias. MATERIAL E MÉTODOS - Quatorze pacientes foram submetidos a exames laboratoriais incluindo pesquisa de fator V (Leiden, protrombina mutante, dosagem de antitrombina, proteína S e C, pesquisa de anticorpos anticardiolipina e anticoagulante lúpico, dosagem de homocisteína e pesquisa da mutação da metilenotetraidrofolatoredutase. RESULTADOS - Dos nove doentes cujos critérios de inclusão foram preenchidos para análise da freqüência de trombofilia, foram encontrados quatro com fatores relacionados à trombofilia: deficiência da antitrombina (um caso, deficiência da proteína S (um caso, mutação da metilenotetraidrofolatoredutase com hiperhomocisteinemia (um caso e presença de anticorpo anticardiolipina (um caso. CONCLUSÃO - Apesar de este estudo não apresentar casuística que possibilite a comparação com a população geral, os dados sugerem a presença de eventos geradores de trombofilia nesses doentes, contribuindo para adoção sistemática de um protocolo de investigação de trombofilia nos doentes portadores de vasculopatia livedóide no Brasil.INTRODUCTION: Atrophie blanche, or livedoid vasculopathy, is a rare clinicopathological entity of unknown etiology. A "thrombo-occlusive process" theory has recently been accepted. OBJECTIVES: To search the presence of several thrombophilic abnormalities in patients with livedoid vasculopathy. METHODS: Fourteen patients were evaluated and tested for factor V Leiden, prothrombin 20210G/A variant, antithrombin, C and S proteins, anticardiolipin and lupus anticoagulant antibodies, homocysteine and methylenetetrahydrofolate reductase mutation. RESULTS: Nine patients met all criteria to be included in the analysis and four of

  13. Modifying muscular dystrophy through TGFβ

    OpenAIRE

    Ceco, Ermelinda; McNally, Elizabeth M.

    2013-01-01

    Muscular dystrophy arises from ongoing muscle degeneration and insufficient regeneration. This imbalance leads to loss of muscle with replacement by scar or fibrosis resulting in muscle weakness and, eventually, loss of muscle function. Human muscular dystrophy is characterized by a wide range of disease severity, even when the same genetic mutation is present. This variability implies that other factors, both genetic and environmental, modify the disease outcome. There has been an ongoing ef...

  14. Bilateral cortical atrophy after severe brain trauma and extradural homatoma Atrofia cortical bilateral após traumatismo cranioencefálico grave e hematoma extradural

    Directory of Open Access Journals (Sweden)

    Paulo Roberto Louzada

    2007-12-01

    Full Text Available We report the case of a severe head injured 43-year old male patient with a large extradural hematoma, Glasgow Coma Scale 3 and dilated fixed pupils. Patient was promptly submitted to surgical evacuation of the lesion, but remained in persistent vegetative state in the post-operative time. Head computed tomography scans performed before surgery, and at early and late post-operative periods comparatively revealed extreme bilateral cortical atrophy. Late consequences of severe head trauma drastically affect the prognosis of patients, being its prevention, and neuroprotection against secondary injury still a therapeutical challenge for neurosurgeons.Relatamos o caso de um paciente de 43 anos, com traumatismo cranioencefálico grave, com grande hematoma extradural, Escala de Coma de Glasgow 3 e pupilas fixas e dilatadas. O paciente foi prontamente submetido à evacuação cirúrgica da lesão mas permaneceu em estado vegetativo persistente no período pós-operatório. As TC de crânio realizadas antes da cirurgia e nos períodos pós-operatórios precoce e tardio revelaram comparativamente extrema atrofia cerebral bilateral. As conseqüências tardias do traumatismo craniano grave afetam drasticamente o prognóstico dos pacientes, sendo sua prevenção, e a neuroproteção contra a injúria secundária ainda um desafio terapêutico para os neurocirurgiões.

  15. Bed Rest Muscular Atrophy

    Science.gov (United States)

    Greenleaf, John E.

    2000-01-01

    A major debilitating response from prolonged bed rest (BR) is muscle atrophy, defined as a "decrease in size of a part of tissue after full development has been attained: a wasting away of tissue as from disuse, old age, injury or disease". Part of the complicated mechanism for the dizziness, increased body instability, and exaggerated gait in patients who arise immediately after BR may be a result of not only foot pain, but also of muscular atrophy and associated reduction in lower limb strength. Also, there seems to be a close association between muscle atrophy and bone atrophy. A discussion of many facets of the total BR homeostatic syndrome has been published. The old adage that use determines form which promotes function of bone (Wolff's law) also applies to those people exposed to prolonged BR (without exercise training) in whom muscle atrophy is a consistent finding. An extreme case involved a 16-year-old boy who was ordered to bed by his mother in 1932: after 50 years in bed he had "a lily-white frame with limbs as thin as the legs of a ladder-back chair". These findings emphasize the close relationship between muscle atrophy and bone atrophy. In addition to loss of muscle mass during deconditioning, there is a significant loss of muscle strength and a decrease in protein synthesis. Because the decreases in force (strength) are proportionately greater than those in fiber size or muscle cross-sectional area, other contributory factors must be involved; muscle fiber dehydration may be important.

  16. Síndrome de fracaso en la cirugía espinal lumbar Failed back surgery syndrome

    Directory of Open Access Journals (Sweden)

    P. A. Hernández-Pérez

    2007-08-01

    Full Text Available Introducción: El dolor generado por la patología degenerativa del raquis en general y de la región lumbar en particular, constituye uno de los motivos de consulta médica más frecuente. Si bien la mayoría de los pacientes mejoran con el tratamiento conservador, algunos requieren de tratamiento quirúrgico para intentar aliviar el dolor. A su vez, de los pacientes operados, entre el 5 y 20 % no mejoran o presentan una recaída de los síntomas en un período inferior a un año luego de la cirugía. Objetivo: Analizar las causas del denominado sindrome de fracaso de la cirugía espinal lumbar, su tratamiento y métodos para su prevención, recalcando la necesidad de un equipo multidisciplinario para el diagnóstico y tratamiento de estos enfermos. Conclusiones: En la patología degenerativa del raquis lumbar, la cirugía debe reservarse como opción terapéutica solo para los pacientes que cumplan con los correspondientes criterios de selección. Cuando el único síntoma es el dolor lumbar o radicular, se debe definir claramente el tipo de dolor que presenta el paciente, como es su entorno familiar y social, realizar estudios neurofisiológicos si se considera necesario, y valorar las alteraciones anatómicas raquídeas mediante estudios de imagen. Una buena selección de los pacientes candidatos para cirugía y de la técnica adecuada en cada caso, es el paso fundamental para intentar disminuir la incidencia del fracaso de la cirugía espinal lumbar.Introduction: The pain produced by degenerative disease of the spine in general and specially in the lumbar region, is a frequent motive of medical consult. The most patients improve their symptoms only with medical treatment, but some patients need surgical treatment. Moreover, between 5 to 20% of patients don’t improve after surgery or relapse in the first year after surgery. Objective: To analyze the causes of the failed back surgery syndrome, its treatment and methods for its prevention

  17. Imagen corporal y dismorfia muscular

    OpenAIRE

    Roldan Pintor, Marta

    2015-01-01

    La presente investigación pretende demostrar la correlación existente entre tener una percepción negativa y distorsionada del propio cuerpo y la posibilidad de desarrollar una dismorfia muscular. Asociado a los cambios culturales, al cambio del ideal de belleza y reforzado por el papel de la publicidad y su influencia en los consumidores, la dismorfia muscular es un problema cada vez más frecuente. Se pretende explicar el recorrido a lo largo de la historia de estos c...

  18. Muscular atrophy in diabetic neuropathy

    DEFF Research Database (Denmark)

    Andersen, H; Gadeberg, P C; Brock, B

    1997-01-01

    Diabetic patients with polyneuropathy develop motor dysfunction. To establish whether motor dysfunction is associated with muscular atrophy the ankle dorsal and plantar flexors of the non-dominant leg were evaluated with magnetic resonance imaging in 8 patients with symptomatic neuropathy, in 8 non...... confirmed that the atrophy predominated distally. We conclude that muscular atrophy underlies motor weakness at the ankle in diabetic patients with polyneuropathy and that the atrophy is most pronounced in distal muscles of the lower leg indicating that a length dependent neuropathic process explains...

  19. Lesión de médula espinal y medicina regenerativa Spinal cord injury and regenerative medicine

    Directory of Open Access Journals (Sweden)

    Sandino Estrada-Mondaca

    2007-12-01

    Full Text Available La lesión medular (LM es un problema que afecta sobre todo a la población en edad laboral y, por lo tanto, sus repercusiones rebasan el ámbito familiar. La LM es irreversible para la mitad de las víctimas y en la actualidad los tratamientos existentes consisten en la asistencia y la estabilización espinal. Con el reconocimiento de la existencia de células madre (CM, el tratamiento de la LM ha recibido otro enfoque. Las CM se encargan de la renovación de los tejidos durante la vida del individuo y su reparación en caso de lesión. Las CM más atractivas desde el punto de vista terapéutico son las capaces de generar diversos tejidos, obtenibles con facilidad, y cuya manipulación es aceptable en términos éticos. En este artículo se presentan algunos de los estudios realizados con CM de diversos orígenes y su aplicación al tratamiento de la LM.Spinal cord injury (SCI is a trauma problem striking mainly working age adults, therefore affecting society beyond the victim’s family circle. Most of the victims of SCI will never recover; therapy for this type of injury consists basically on spinal cord support and stabilization. With the discovery of stem cells (SC, SCI treatment has been given another chance. Stem cells are responsible for tissue renewal throughout the individual’s life, as well as tissue repair when needed. From the therapeutic point of view, the most appealing SC are those capable of generating a variety of tissues, those easily harvested, and finally, those ethically unquestioned. This article summarizes some studies carried with SC of various origins and their application to SCI treatment.

  20. Wasting mechanisms in muscular dystrophy.

    Science.gov (United States)

    Shin, Jonghyun; Tajrishi, Marjan M; Ogura, Yuji; Kumar, Ashok

    2013-10-01

    Muscular dystrophy is a group of more than 30 different clinical genetic disorders that are characterized by progressive skeletal muscle wasting and degeneration. Primary deficiency of specific extracellular matrix, sarcoplasmic, cytoskeletal, or nuclear membrane protein results in several secondary changes such as sarcolemmal instability, calcium influx, fiber necrosis, oxidative stress, inflammatory response, breakdown of extracellular matrix, and eventually fibrosis which leads to loss of ambulance and cardiac and respiratory failure. A number of molecular processes have now been identified which hasten disease progression in human patients and animal models of muscular dystrophy. Accumulating evidence further suggests that aberrant activation of several signaling pathways aggravate pathological cascades in dystrophic muscle. Although replacement of defective gene with wild-type is paramount to cure, management of secondary pathological changes has enormous potential to improving the quality of life and extending lifespan of muscular dystrophy patients. In this article, we have reviewed major cellular and molecular mechanisms leading to muscle wasting in muscular dystrophy. This article is part of a Directed Issue entitled: Molecular basis of muscle wasting.

  1. Porcine models of muscular dystrophy

    Science.gov (United States)

    Duchenne muscular dystrophy is a progressive, fatal, X-linked disease caused by a failure to accumulate the cytoskeletal protein, dystrophin. This disease is modeled by a variety of animal models including several fish models, mice, rats, and dogs. While these models have contributed substantially t...

  2. Imagem radiográfica da cavidade torácica de cães Golden Retriever acometidos pela distrofia muscular Radiologic images of the thoracic cavity of Golden Retriever dogs affected by muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Flávio R. Alves

    2009-02-01

    Full Text Available A distrofia muscular de Duchenne (DMD é uma doença de origem genética, cuja principal manifestação clínica é enfraquecimento e atrofia progressiva dos músculos. Os cães da raça Golden Retriever podem apresentar distrofia muscular, com características genotípicas e fenotípicas muito próximas à distrofia muscular humana, sendo considerado o modelo animal mais apropriado para o estudo da DMD. Foram realizadas radiografias torácicas látero-laterais e dorsoventrais de 10 cães Golden Retriever afetados pela distrofia muscular, com o objetivo de relatar as alterações radiográficas associadas a essa patologia. O exame radiográfico da cavidade torácica evidenciou: (a padrão pulmonar intersticial e alveolar predominante, (b um quadro de pneumonia e edema pulmonar em fase inicial, (c a cardiomegalia como o principal achado de comprometimento circulatório na cavidade torácica, (d O megaesôfago torácico foi observado deslocando a traquéia e silhueta cardíaca ventralmente e, (e a cúpula diafragmática apresentou modificação morfológica, mostrando protrusão para o interior da cavidade torácica e hérnia hiatal, com deslocamento do estômago para o espaço mediastino caudal. Os achados de necropsia evidenciaram efusão pleural e enfisema pulmonar e lesões compatíveis com processos degenerativos e metaplásicos da musculatura diafragmática e intercostal. A avaliação radiográfica constituiu-se como um meio diagnóstico auxiliar essencial na identificação de doença cardíaca e respiratória em cães Golden Retriever acometidos pela Distrofia Muscular, capaz de identificar processos pneumônicos primários, permitindo o estabelecimento de terapêutica adequada de tratamento, com prognóstico reservado nos estágios mais avançados desta alteração.Duchenne Muscular Dystrophy (DMD is a genetic disorder with clinical signs of muscular weaknesses and progressive atrophy. Golden Retriever dogs show similar genotypic and

  3. Diagnóstico diferencial das distrofias musculares com referência especial às alterações enzimáticas Differential diagnosis of muscular dystrophies with special reference to enzymatic activities

    Directory of Open Access Journals (Sweden)

    H. Heick

    1967-06-01

    Full Text Available Depois de apresentar os dados clínicos e genéticos relativos a 221 casos de distrofia muscular progressiva (125 casos do tipo Duchenne, 63 do tipo cintura pélvica e 25 do tipo fácio-escápulo-umeral, os autores analisam os resultados das dosagens sôro-enzimáticas que fizeram; em alguns casos foram pesquisas também as atividades de 25 enzimas em homogeneizados de tecido muscular. Os mesmos exames foram feitos em casos de miopatias de outra etiologia e de distrofias musculares neuropáticas e mielopáticas. Foi verificado que o teor das sôro-enzimas aumenta em todas as formas de distrofia muscular progressiva hereditária. No tipo Duchenne as-atividades enzimáticas são elevadas desde o nascimento das crianças acometidas, precedendo o aparecimento da sintomatologia clínica. Com o progredir da moléstia e com o decorrer dos anos os teores sôro-enzimáticos tendem a diminuir, podendo reduzir-se aos valores normais nas fases finais da moléstia. No tecido muscular não existe diferença significante, no que respeita à composição enzimática, entre os diversos tipos de distrofia muscular progressiva e hereditária. Com exceção de poucas enzimas cuja atividade é maior nos tecidos conjuntivo e adiposo que progressivamente substituem o tecido muscular que entra em atrofia, o teor das mio-enzimas diminui com o progredir da moléstia, como expressão do crescente esgotamento do citoplasma da célula muscular. Nas distrofias musculares neuropáticas e mielopáticas as alterações são idênticas, embora de menor intensidade. Algumas diferenças quantitativas podem ser explicadas pela idade dos pacientes e pela intensidade do processo. A mesma diferença pode ser demonstrada mediante exames histopatológicos: nas formas que acometem crianças (Werdnig-Hoffmann as fibras musculares ainda não denervadas se apresentam com aspecto normal, ao passo que, nas formas do adulto (Kugelberg-Welander, possivelmente pelo desgaste provocado pelos esfor

  4. Análise bioquímica das metaloproteases da matriz extracelular durante atrofia experimental das glândulas salivares submandibulares em ratos Analysis of the matrix metalloproteases in duct-ligated submandibular salivary glands of rats

    OpenAIRE

    Souza, Ana Paula de [UNESP; TREVILATTO, Paula Cristina; ZAIA, Alexandre Augusto; LINE, Sérgio Roberto Peres

    1999-01-01

    O presente estudo teve por objetivo analisar a expressão das metaloproteases da matriz extracelular durante a atrofia experimental das glândulas submandibulares em ratos, causada pela obstrução do ducto excretor principal. Os zimogramas realizados com extratos das porções internas e externas das glândulas salivares normais e ligadas mostraram que as principais enzimas gelatinolíticas possuíam pesos moleculares variando entre 72 kDa e 65 kDa. A atividade dessas enzimas aumentou progressivament...

  5. CT myelography characteristics of spinal dysraphism in a young mixed breed dog Características de mielografía con TC de una disrafia espinal en un perro mestizo joven

    Directory of Open Access Journals (Sweden)

    M Gómez

    2012-01-01

    Full Text Available Spinal dysraphism is a congenital defect of the vertebral column and spinal cord secondary to imperfect closure of the caudal neuropore of the developing neural tube. This report describes computed tomographic myelography (Myelo-CT characteristics of spina bifida occulta, spinal cord aplasia/hypoplasia and split cord malformation type II (diplomyelia in the caudal lumbar area of a 2 month old mixed breed dog.La disrafia espinal es un defecto congénito de la columna vertebral y la médula espinal secundaria a un cierre imperfecto del neuroporo caudal del tubo neural en desarrollo. Este reporte describe las características observadas en una mielografía por tomografía computarizada (mielo-TC de una espina bífida oculta, aplasia/hipoplasia segmentaria de médula espinal y duplicación de médula espinal tipo II (diplomielia en el segmento lumbar caudal de un perro mestizo de dos meses de edad.

  6. Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy

    Science.gov (United States)

    2016-08-02

    Muscular Dystrophy, Duchenne; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn

  7. [Dystroglycan linkage and muscular dystrophy].

    Science.gov (United States)

    Shimizu, Teruo

    2002-11-01

    Dystroglycan is a key complex between basal lamina laminin, extracellularly and membrano-cytoskeleton, intracellularly. The damage of this linkage is turned out to cause muscular dystrophies. Dystroglycan knockout is lethal. Dystroglycan-associated intracellular proteins such as dystrophin, dystrobrevin, sarcoglycans, plectin and caveolin-3 are responsible for causing severe (Duchenne type) and moderate forms (Becker, LGMDs). Laminin, dystroglycan-binding extracellular protein, is deficient in the most severe form of congenital muscular dystrophy with normal intelligence and eye. Recently, a remarkable progress is made in most severe forms of congenital muscular dystrophy with anomalies of brain and eye such as Fukuyama type (Japan) and muscle-eye-brain disease (Finland). The gene product for Fukuyama type, fukutin, belongs to a family of glycosylation enzymes in bacteria and yeast. Since alpha-dystroglycan contains 14-15 o-glycans, ser/thr-mannose 2-1 GlcNAc 4-1 Gal 3-2 Sial in the middle third mucin-domain and the sial-o-glycan is essential for laminin-binding, and since alpha-dystroglycan is defective in Fukuyama type sarcolemma with anti both sugar moiety- and peptide-antidodies, defective fukutin causes incomplete o-glycosylation of alpha-dystroglycan. In '02, it is clarified that a glycosylation enzyme, POMGnT1 which modifies GlcNAc onto ser/thr-mannose, is defective in 6 MEB patients. The loss of the enzyme activity is turned out to lose alpha-dystroglycan from sarcolemma of MEB. These data strongly suggests that o-glycosylation defect of alpha-dystroglycan causes the most severe congenital muscular dystrophy such as Fukuyama type, MEB and Walker Warburg syndrome.

  8. Distrofia muscular familial: A propósito de três casos da moléstia de Steinert

    Directory of Open Access Journals (Sweden)

    Oswaldo Freitas Julião

    1943-09-01

    Full Text Available Os AA. apresentam as observações clínicas de três irmãos portadores de Distrofia Miotônica. Depois de justificarem esse diagnóstico (baseado na presença de amiotrofias, fenômenos miotônicos, persistência de um sulco determinado pela percussão de massas musculares, atrofia testicular com azoospermia, catarata, hipersecreção lacrimal, etc., salientam algumas particularidades dos casos em estudo, chamando especialmente a atenção para a importância das alterações elétricas observadas (contração lenta, reação fibrilar, etc. Estas alterações da excitabilidade elétrica, aliadas à presença de contrações fibrilares e de mioedema, poderiam indicar a existência de comprometimento das células das pontas anteriores da medula (lesão nuclear, hipótese que é discutida pelos AA. Finalmente, são expostas as conclusões gerais relativas aos casos apresentados.

  9. Lesiones musculares en el deporte. Muscular injuries in sport.

    Directory of Open Access Journals (Sweden)

    Jiménez Díaz, José Fernando

    2006-04-01

    Full Text Available ResumenDurante la práctica de la actividad física hay una gran incidencia de lesiones musculares, si bien se han llevado a cabo pocos estudios clínicos sobre el tratamiento y la resolución de las mismas. Desde el punto de vista etiopatogénico, hay que señalar que la incidencia de lesión es mayor en aquellos músculos poliarticulares en condiciones de acumulación de fatiga y con condiciones ambientales desfavorables. La clasificación de las lesiones musculares permite distinguir entre aquellas que no afectan a la fascia produciéndose un sangrado dentro del mismo (intramuscular o bien si la fascia también se rompe, el sangrado se sitúa entre los diferentes músculos (intermuscular. El tratamiento de estas lesiones se realizará combinando reposo, compresión, aplicación de frío y elevación del área lesionada así como el desarrollo de un adecuado programa de readaptación funcional que permita al jugador incorporarse lo antes posible a la dinámica del equipo. En la actualidad se está llevando a cabo opciones terapéuticas con factores de crecimiento, terapia génica y células madre, si bien todavía no están lo suficientemente desarrolladas.AbstractDuring the practice of the physical activity there is a great effect of muscular injuries, though few clinical studies have been carried out on the treatment and the resolution of the same ones. Inside the reasons it is necessary to indicate that the effect of injury is major in those muscles you will polyarticulate in situation of fatigue and with environmental unfavorable conditions.The classification of the muscular injuries allows to distinguish between those that do not affect the fascia producing the bled intramuscular or if the fascia also breaks, the bled one places between the different muscles (intermuscular.The treatment will be realized combining rest, compression, application of cold and elevation of these injuries as well as the development of a program of functional

  10. Atractividad de diferentes cebos sobre Trógidos (Coleoptera en el Bosque Autóctono "El Espinal", Río Cuarto (Córdoba, Argentina

    Directory of Open Access Journals (Sweden)

    Rodrigo S. GÓMEZ

    2005-01-01

    Full Text Available Se efectuó un estudio para determinar la atractividad de cebos sobre las especies de Trogidae presentes en el Bosque Autóctono "El Espinal" en la ciudad de Río Cuarto (Córdoba, Argentina. Se usaron trampas de caída cebadas con carne de vacuno (3, carne de porcino (3, menudo de pollo (3, excremento humano (3, excremento de perro (3 y trampas testigo (sin cebo (3 sumando un total de 18. Se recolectaron cuatro especies de Trogidae: Omorgus suberosus (Fabricius, Polynoncus aeger (Guérin – Meneville, Polynoncus gemmingeri (Harold y Polynoncus pilularius (Germar, que mostraron una preferencia hacia los menudos en descomposición de pollo y carne de cerdo seguido por excremento de perro; sugiriendo un comportamiento necrofágico – coprofágico con una tendencia a la necrofagia. Adicionalmente se utilizaron trampas de luz capturándose ejemplares de Omorgus ciliatus (Blanchard

  11. A influência da mobilização articular nas tendinopatias dos músculos bíceps braquial e supra-espinal

    OpenAIRE

    BARBOSA, RI; GOES, R; Mazzer,N; FONSECA, MCR

    2008-01-01

    As causas mais comuns de dor no ombro estão relacionadas às degenerações dos tendões da musculatura do manguito rotador. OBJETIVO: Verificar a influência da mobilização articular por meio dos movimentos acessórios do ombro na recuperação inicial de 14 pacientes com tendinopatia crônica dos mm. supra-espinal e/ou bíceps braquial. MÉTODOS: Foram comparados dois protocolos de tratamento, compostos da aplicação de ultra-som terapêutico na área do tendão afetado e de treinamento excêntrico na musc...

  12. Genetics Home Reference: spinal and bulbar muscular atrophy

    Science.gov (United States)

    ... Kennedy spinal and bulbar muscular atrophy Kennedy's disease SBMA X-linked spinal and bulbar muscular atrophy Related ... Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006 ...

  13. Hipoparatireoidismo primário manifestando-se com aumento de enzimas musculares Primary hypoparathyreoidism with raised muscle enzymes

    Directory of Open Access Journals (Sweden)

    Simone Appenzeller

    2005-08-01

    Full Text Available Os autores relatam o caso de um jovem de 18 anos de idade com fraqueza muscular generalizada, cãibras e crises convulsivas, tratado com corticosteróides por oito anos em decorrência de um diagnóstico de polimiosite, sem melhora clínica. Ao exame físico apresentava força muscular normal, ausência de atrofias musculares, diminuição de reflexos tendíneos profundos e presença do sinal de Chvostek e Trousseau. A hipótese diagnóstica inicial foi de miopatia metabólica e a investigação laboratorial revelou cálcio sérico e urinário diminuídos e dosagem de paratormônio (PTH indetectável. O diagnóstico final foi de hipoparatireoidismo, tendo sido o paciente tratado com cálcio endovenoso. A tomografia de crânio demonstrou calcificações difusas, características da síndrome de Fahr. O paciente recebeu alta assintomático com carbonato de cálcio e colecalciferol.The authors report a case of an 18-year-old boy using prednisone for eight years for a misdiagnosis of polymyositis. His complains were diffuse weakness, cramps and seizures, with progressive worsening and with no improvement despite treatment with corticosteroid. On admission, the physical examination didn't show muscular weakness or atrophy. Deep tendom reflexes were absent and Chvostek and Trousseau signs were found. The diagnosis of a metabolic myopathy was considered and further laboratory findings revealed a low serum and urinary calcium, undetectable PTH. The diagnosis of hypoparathyreoidism was made and the patient was treated with endovenous calcium. Cranial tomography revealed diffuse calcifications, suggestive of Fahr's syndrome. The patient recovered completely and was discharged with oral calcium carbonate and colecalciferol.

  14. Nutrition Considerations in Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Davis, Jillian; Samuels, Emily; Mullins, Lucille

    2015-08-01

    Duchenne muscular dystrophy (DMD) is a serious degenerative muscular disease affecting males. Diagnosis usually occurs in childhood and is confirmed through genetic testing and/or muscle biopsy. Accompanying the disease are several nutrition-related concerns: growth, body composition, energy and protein requirements, constipation, swallowing difficulties, bone health, and complementary medicine. This review article addresses the nutrition aspects of DMD.

  15. Atrophy of the intestinal villi in a post-gastrectomy patient with severe iron deficiency anemia Atrofia de las vellosidades intestinales en un paciente postgastrectomizado con anemia ferropénica grave

    Directory of Open Access Journals (Sweden)

    A. Lizarraga

    2009-10-01

    Full Text Available Background & aims: Iron deficiency anemia is a common complication of gastric surgery that in certain patients can be refractory to treatment with oral iron and needs to be treated parenterally. Methods: A 48-year woman underwent gastric surgery for a gastric ulcer. She was referred to the nutrition unit for the study and treatment of a 3-year iron deficiency anemia refractory to oral iron supplementation. Blood tests, endoscopy and jejunal biopsy were made to study the case. Results: Intestinal villi atrophy in the absence of celiac disease was the result. She was treated with intravenous iron, resolving the villous atrophy and thus oral iron supplementation could be effective. Conclusion: This case illustrates that iron deficiency may cause villous atrophy. In this setting, parenteral iron administration is necessary to correct the haematological and non-hematological alterations associated with this deficiency.Introducción y objetivos: La anemia ferropénica es una complicación frecuente tras la cirugía gástrica que en algunos pacientes puede ser refractaria al tratamiento con hierro oral, siendo necesaria su administración por vía parenteral. Métodos: Presentamos el caso de una mujer de 48 años intervenida de gastrectomía para tratamiento de una úlcera gástrica. Fue remitida a la unidad de nutrición para estudio y tratamiento de una anemia ferropénica de 3 años de evolución refractaria al tratamiento con hierro oral. Para el estudio del caso se realizó analítica y endoscopia digestiva alta con biopsia yeyunal. Resultados: En el estudio realizado la paciente presentaba atrofia de la mucosa yeyunal en ausencia de enfermedad celíaca. Fue tratada con hierro intravenoso desapareciendo la atrofia intestinal, tras lo cual continuamos con suplementos de hierro por vía oral. Conclusión: Este caso ilustra que la deficiencia de hierro puede producir atrofia intestinal. Si esto ocurre, es necesario la suplementación de este metal

  16. [Congenital muscular dystrophies in children].

    Science.gov (United States)

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-06

    From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.

  17. Avaliação da microcirculação das bordas do tendão do supra-espinal nas lesões do manguito rotador Microvascular evaluation of the supraspinatus tendon borders in rotator cuff lesions

    OpenAIRE

    Roberto Yukio Ikemoto; Joel Murachovsky; Luis Gustavo Prata Nascimento; Rogério Serpone Bueno; Fabrício Hidetoshi Ueno; Jorge Akita Júnior

    2007-01-01

    OBJETIVOS: Avaliar a microcirculação das bordas do tendão supra-espinal nas lesões do manguito rotador com a finalidade de determinar a necessidade ou não do desbridamento de suas bordas no momento do seu reparo cirúrgico. MÉTODOS: No período de junho a dezembro de 2004, foram avaliadas amostras recolhidas de 31 pacientes portadores de lesão completa do tendão supra-espinal, submetidos ao tratamento da lesão do manguito rotador por via artroscópica. Apresentavam idade entre 42 e 82 anos (médi...

  18. Efecto de las neurotrofinas en cultivos primarios de ganglio espinal, normales e infectados con virus de la rabia

    Directory of Open Access Journals (Sweden)

    Hernán Hurtado

    2000-02-01

    Full Text Available

    Los cultivos de ganglio espinal son utilizados para estudiar la interacción entre el virus de la rabia y las neuronas sensoriales presentes en ellos. Se conoce que in vivo, el virus utiliza estas neuronas como una de las puertas de entrada al Sistema Nervioso Central en donde posteriormente se produce una encefalopatía letal. La patología producida por el virus es debida a su marcado tropismo hacia las neuronas, que depende a su vez de la unión entre el virus y receptores específicos en la membrana neuronal. Entre las moléculas que se han reportado como posibles receptores virales están el Receptor Nicotínico de Acetilcolina (RNACh, la Molécula de Adhesión Celular Neuronal (NCAM y el receptor de baja afinidad para las neurotrofinas (p75NTR. Se sabe que en cultivos de neuronas sensoriales adultas, las neurotrofinas pueden promover la regeneración neurítica y mantener los fenotipos neuronales. Además existe evidencia de que en líneas celulares el Nerve Growth Factor (NGF modifica la calidad y cantidad de RNACh y NCAM expresados, así en estos cultivos primarios (que expresan toda clase de receptores para neurotrofinas se pudieran estar presentando también tales cambios, que conlleven a modificaciones en la infección por el virus de rabia. De esta manera, el objetivo de este estudio, fue evaluar el efecto de las neurotrofinas sobre la regeneración neurítica y la supervivencia neuronal (en cultivos no infectados y sobre la proporción de células infectadas por virus de rabia. Para ello, los cultivos se trataron desde el inicio con NGF, Brain-Derived Neurotrophic Factor (BDNF y Neurotrophin-3 (NT-3 a tres diferentes concentraciones y algunos de ellos fueron infectados con virus de la rabia, cepa CVS (Challenge Virus Standard obtenido en cerebro de ratón. A los

  19. Statistical insights into major human muscular diseases.

    Science.gov (United States)

    Gupta, Shakti; Kim, Sung-Min; Wang, Yu; Dinasarapu, Ashok Reddy; Subramaniam, Shankar

    2014-07-15

    Muscular diseases lead to muscle fiber degeneration, impairment of mobility, and in some cases premature death. Many of these muscular diseases are largely idiopathic. The goal of this study was to identify biomarkers based on their functional role and possible mechanisms of pathogenesis, specific to individual muscular disease. We analyzed the muscle transcriptome from five major muscular diseases: acute quadriplegic myopathy (AQM), amyotrophic lateral sclerosis (ALS), mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), dermatomyositis (DM) and polymyositis (PM) using pairwise statistical comparison to identify uniquely regulated genes in each muscular disease. The genome-wide information encoded in the transcriptome provided biomarkers and functional insights into dysregulation in each muscular disease. The analysis showed that the dysregulation of genes in forward membrane pathway, responsible for transmitting action potential from neural excitation, is unique to AQM, while the dysregulation of myofibril genes, determinant of the mechanical properties of muscle, is unique to ALS, dysregulation of ER protein processing, responsible for correct protein folding, is unique to DM, and upregulation of immune response genes is unique to PM. We have identified biomarkers specific to each muscular disease which can be used for diagnostic purposes.

  20. Porcine models of muscular dystrophy.

    Science.gov (United States)

    Selsby, Joshua T; Ross, Jason W; Nonneman, Dan; Hollinger, Katrin

    2015-01-01

    Duchenne muscular dystrophy is a progressive, fatal, X-linked disease caused by a failure to accumulate the cytoskeletal protein dystrophin. This disease has been studied using a variety of animal models including fish, mice, rats, and dogs. While these models have contributed substantially to our mechanistic understanding of the disease and disease progression, limitations inherent to each model have slowed the clinical advancement of therapies, which necessitates the development of novel large-animal models. Several porcine dystrophin-deficient models have been identified, although disease severity may be so severe as to limit their potential contributions to the field. We have recently identified and completed the initial characterization of a natural porcine model of dystrophin insufficiency. Muscles from these animals display characteristic focal necrosis concomitant with decreased abundance and localization of dystrophin-glycoprotein complex components. These pigs recapitulate many of the cardinal features of muscular dystrophy, have elevated serum creatine kinase activity, and preliminarily appear to display altered locomotion. They also suffer from sudden death preceded by EKG abnormalities. Pig dystrophinopathy models could allow refinement of dosing strategies in human-sized animals in preparation for clinical trials. From an animal handling perspective, these pigs can generally be treated normally, with the understanding that acute stress can lead to sudden death. In summary, the ability to create genetically modified pig models and the serendipitous discovery of genetic disease in the swine industry has resulted in the emergence of new animal tools to facilitate the critical objective of improving the quality and length of life for boys afflicted with such a devastating disease.

  1. El dolor muscular referido es primariamente de origen periférico: la teoría de "barrera-presa"

    Directory of Open Access Journals (Sweden)

    A. Farasyn

    2013-12-01

    Full Text Available Los mecanismos que llevan a una alta incidencia del dolor muscular referido (DMR son en gran medida desconocidos. En la actualidad, se postula que se produce la activación de una reacción en cadena que implica el desencadenamiento de la excitación de neuronas aferentes y la facilitación de las conexiones sinápticas al nivel de la médula espinal, lo cual produce el DMR distribuido más distalmente a través de las vías convergentes eferentes. Como resultado de los hallazgos de nuestros estudios del DMR inducido experimentalmente, se puede plantear la hipótesis de que la presión profunda sobre la zona de miofibrosis incrementará primariamente la excitabilidad nociceptiva de los nervios aferentes sensitivos desde el área de DMR hasta el sitio de la presión local en el músculo en pocos segundos, lo cual a su vez excitará secundariamente el área total dependiente de DMR. El mecanismo propuesto en este artículo para el dolor muscular referido está ligado a la teoría de la "hiperexcitabilidad pre-local" o la "teoría de barrera-presa". Los nervios aferentes sensitivos periféricos pueden ser atrapados en los endurecimientos musculares locales (barrera-represa, con la consecuencia de la hiperexcitación de los nervios pre-locales entre el área distal de dolor referido y la zona local muscular de sensibilidad dolorosa a la presión. La patogénesis primaria del dolor muscular referido puede ser probablemente la sensibilización periférica con la modulación central adicional y no viceversa. Sin embargo, para verificar esta hipótesis, son necesarios estudios fundamentales clínicos con el DMR inducido experimentalmente.

  2. High Spinal Anesthesia for Reductive Mammaplasty: a Three Years Experience Anestesia espinal alta para mastoplastia reductora. Experiencia de tres años

    Directory of Open Access Journals (Sweden)

    Néstor Parets Correa

    2012-05-01

    Full Text Available

    Background: High spinal neuraxial anesthesia is a controversial issue when used in surgery. Objective: To describe the results of the application of high spinal neuraxial anesthesia in reductive mammaplasty surgery. Methods: A descriptive study was conducted at the Dr. Gustavo Aldereguía Lima General University Hospital of Cienfuegos from June 2006 to June 2009. It included 90 patients who underwent surgery with high spinal neuraxial anesthesia. The following variables were analyzed: age, body mass index, HbO2 saturation, blood pressure, heart rate, use of preemptive analgesia, postoperative analgesia behavior, satisfaction level, complications, surgical technique and duration of surgery and anesthesia application. Results: 50% of patients were between 35 and 44 years old; 46, 7% were overweight; 80% had surgery for breast hypertrophy; reductive mastopalstia was performed in 97, 8% of cases; no patients presented rates of high blood pressure before or after the application of anesthesia; 41.1% showed low levels of blood pressure after anesthesia; heart rate was low in 31, 1% of cases after the application of anesthesia and high in 4, 4%. Postoperative analgesia was good in 87, 8% of patients, there was no ventilatory complication and 100% of patients expressed their satisfaction with the anesthetic technique. Conclusions: The application of this anesthetic technique can successfully develop surgeries with minimal risks and complications for patients.

    Fundamento: la aplicación de anestesia neuroaxial espinal alta en las intervenciones quirúrgicas resulta un tema controversial. Objetivo: describir los resultados de la aplicación de anestesia neuroaxial espinal alta en intervenciones quirúrgicas para mastoplastia reductora. Métodos: estudio descriptivo realizado en el Hospital General Universitario

  3. Contribuição para o diagóstico diferencial da distrofia muscular progressiva

    Directory of Open Access Journals (Sweden)

    José Antonio Levy

    1964-06-01

    Full Text Available Os dados fornecidos pela anamnese assim como a sintomatologia nem sempre permitem estabelecer, com segurança, o diagnóstico de distrofia muscular progressiva (DMP; o diagnótico é facilitado quando são obtidos dados heredológicos depondo por afecção de caráter familiar ou quando se trate de casos de longa evolução, mostrando a característica fundamental da irreversibilidade. As provas laboratoriais propostas até agora, embora úteis para a avaliação do estado da consunção do tecido muscular, não fornecem elementos seguros para o diagnóstico diferencial, pois os resultados podem ser idênticos tanto na DMP (especialmente nas fases, iniciais ou de evolução subaguda como nas polimiosites e nas neuromiosites. De grande importância para o diagnóstico diferencial são a eletromio-grafia e a biopsia muscular: a eletromiografia mostra, na DMP, diminuição da voltagem e redução da duração média dos potenciais de ação, com elevada incidência de potenciais polifásicos; o exame histológico mostra grande variação no calibre e degeneração das fibras musculares com proliferação de tecido conjuntivo, sem infiltrações de caráter inflamatório e sem atividade regenerativa útil. Entretanto, êstes exames complementares não bastam, por si sós, para o diagnóstico diferencial de todos os casos e seus resultados devem ser interpretados cuidadosamente. Neste trabalho são referidos 21 casos que exigiram cuidadoso diagnóstico diferencial. Em 17 (casos 1 a 17, com base na anamnese e na sintomatologia, fôra feito o diagnóstico de DMP; entretanto em todos êles o exame mais minucioso, acrescido de dados fornecidos pela eletromiografia e especialmente pela biopsia, conduziu à formulação de outro diagnóstico. Em dois casos (18 e 19, ambos de moléstia de Charcot-Marie-Tooth, o exame histo-patológico sugeria o diagnóstico de DMP. Em um caso (20 o quadro clínico sugeria DMP e o exame eletromiográfico indicava haver les

  4. Effect of different additives on the properties of alumina-spinel castables Efeito de diferentes aditivos nas propriedades de concretos de alumina-espinélio

    Directory of Open Access Journals (Sweden)

    M. Ghasemzadeh

    2012-12-01

    Full Text Available Physical properties of low cement castable containing 22 wt.% Al2O3-rich MgO-Al2O3 spinel and 1.7 wt.% CaO with addition of polyacrylates, castament FS20, TPP and citric acid were investigated. Results showed castables including castament FS20 have higher flow values and better final properties comparing with castables including Darvan 7S and TPP. Also in this study we investigated the effect of addition of microsilica up to 4 wt.% on the properties of alumina-spinel castables. Microsilica is the finest particles in the system and due to suitable distribution of microsilica among other particle the open porosity reduced and mechanical strength increased. Slag penetrations resistance increased with increasing microsilica addition by forming a densification layer right behind the hot face of castables in service.As propriedades físicas de concretos de baixo cimento contendo 22 peso% Al2O3 em espinélio MgO-Al2O3 e 1,7 peso% CaO com adição de poliacrilatos, concrtagem FS20, TPP e ácido cítrico foram estudadas. Os resultados mostram que os concretos contendo FS20 tem maiores valores de fluência e melhores propriedades finais comparando com concretos como Darvan 7S e TPP. Foi também estudado o efeito da adição de microsílica até 4 peso% nas propriedades de concretos de espinélio-alumina. Microsílica é a partícula mais fina no sistema e, devido à distribuição adequada de microsílica entre as outras partículas, a porosidade aberta foi reduzida e a resistência mecânica aumentou. A resistência à penetração de escória aumentou com o aumento da adição de microsílica formando uma camada de densificação logo atrás da face quente dos concretos em uso.

  5. Types of SMA (Spinal Muscular Atrophy)

    Science.gov (United States)

    ... genes other than the SMN1 gene. Spinal Muscular Atrophy Respiratory Distress (SMARD) SMARD is a very rare ... and 50. It causes muscle weakness and wasting (atrophy) throughout the body, which is most noticeable in ...

  6. Targeting latent TGFβ release in muscular dystrophy.

    Science.gov (United States)

    Ceco, Ermelinda; Bogdanovich, Sasha; Gardner, Brandon; Miller, Tamari; DeJesus, Adam; Earley, Judy U; Hadhazy, Michele; Smith, Lucas R; Barton, Elisabeth R; Molkentin, Jeffery D; McNally, Elizabeth M

    2014-10-22

    Latent transforming growth factor-β (TGFβ) binding proteins (LTBPs) bind to inactive TGFβ in the extracellular matrix. In mice, muscular dystrophy symptoms are intensified by a genetic polymorphism that changes the hinge region of LTBP, leading to increased proteolytic susceptibility and TGFβ release. We have found that the hinge region of human LTBP4 was also readily proteolysed and that proteolysis could be blocked by an antibody to the hinge region. Transgenic mice were generated to carry a bacterial artificial chromosome encoding the human LTBP4 gene. These transgenic mice displayed larger myofibers, increased damage after muscle injury, and enhanced TGFβ signaling. In the mdx mouse model of Duchenne muscular dystrophy, the human LTBP4 transgene exacerbated muscular dystrophy symptoms and resulted in weaker muscles with an increased inflammatory infiltrate and greater LTBP4 cleavage in vivo. Blocking LTBP4 cleavage may be a therapeutic strategy to reduce TGFβ release and activity and decrease inflammation and muscle damage in muscular dystrophy.

  7. Reality television and the muscular male ideal.

    Science.gov (United States)

    Dallesasse, Starla L; Kluck, Annette S

    2013-06-01

    Although researchers have examined the negative effects of viewing reality television (RTV) on women's body image, this research has not been extended to men. Exploring the extent to which RTV depicts men who embody the muscular ideal may enhance our understanding of the potential influence of this media genre. We explored the extent to which RTV depicted men who embodied the muscular ideal using a quantitative content analysis. Based on binomial tests, the primary male cast members of programs airing on networks popular among young adult men during the Fall 2009 broadcast season were more muscular, with lower levels of body fat, than average U.S. men. The chest-to-waist and shoulder-to-waist ratios of these cast members did not differ as a function of program type (i.e., reality drama, endurance, and romance). Young men who view RTV programs included in the present study would be exposed to an unrepresentative muscular ideal.

  8. [Unusual muscular involvement in ankylosing spondylitis].

    Science.gov (United States)

    Wattiaux, M J; Rondier, J; Bletry, O; Godeau, P; Cayla, J

    1985-03-01

    Muscle involvement in ankylosing spondylitis has been little studied. The authors report two cases with marked muscular atrophy and functional impotence, which had directed the diagnosis towards a myopathy over a period of several years in the first case, and a suspected primary muscular disease associated with ankylosing spondylitis in the second. Muscle biopsies eliminated the diagnosis of myopathy in both cases, with rapid functional recovery with proper treatment. Following a review of the literature, two hypotheses can be considered to explain the muscular involvement in ankylosing spondylitis: one mechanism which appears well-established is a radiculitis with involvement of the paravertebral muscles: other authors suggest that there is nonspecific, generalized muscular involvement in this disorder.

  9. Anoctamin 5 muscular dystrophy in Denmark

    DEFF Research Database (Denmark)

    Witting, Nanna; Duno, Morten; Petri, Helle

    2013-01-01

    Since the initial description in 2010 of anoctamin 5 deficiency as a cause of muscular dystrophy, a handful of papers have described this disease in cases of mixed populations. We report the first large regional study and present data on new aspects of prevalence, muscular and cardiac phenotypic...... characteristics, and muscle protein expression. All patients in our neuromuscular unit with genetically unclassified, recessive limb girdle muscular dystrophy (LGMD2), Miyoshi-type distal myopathy (MMD) or persistent asymptomatic hyperCK-emia (PACK) were assessed for mutations in the ANO5 gene. Genetically...... confirmed patients were evaluated with muscular and cardiopulmonary examination. Among 40 unclassified patients (28 LGMD2, 5 MMD, 7 PACK), 20 were homozygous or compound heterozygous for ANO5 mutations, (13 LGMD2, 5 MMD, 2 PACK). Prevalence of ANO5 deficiency in Denmark was estimated at 1:100.000 and ANO5...

  10. Duchenne muscular dystrophy: the management of scoliosis

    Science.gov (United States)

    Gardner, Adrian C.; Roper, Helen P.; Chikermane, Ashish A.; Tatman, Andrew J.

    2016-01-01

    This study summaries the current management of scoliosis in patients with Duchenne Muscular Dystrophy. A literature review of Medline was performed and the collected articles critically appraised. This literature is discussed to give an overview of the current management of scoliosis within Duchenne Muscular Dystrophy. Importantly, improvements in respiratory care, the use of steroids and improving surgical techniques have allowed patients to maintain quality of life and improved life expectancy in this patient group.

  11. The superhealing MRL background improves muscular dystrophy

    OpenAIRE

    2012-01-01

    Abstract Background Mice from the MRL or “superhealing” strain have enhanced repair after acute injury to the skin, cornea, and heart. We now tested an admixture of the MRL genome and found that it altered the course of muscle pathology and cardiac function in a chronic disease model of skeletal and cardiac muscle. Mice lacking γ-sarcoglycan (Sgcg), a dystrophin-associated protein, develop muscular dystrophy and cardiomyopathy similar to their human counterparts with limb girdle muscular dyst...

  12. Atractividad de diferentes cebos sobre Trógidos (Coleoptera en el Bosque Autóctono "El Espinal", Río Cuarto (Córdoba, Argentina Attractivity of different Baits on Trogids (Coleoptera in the Autochthonous Forest "El Espinal", Río Cuarto (Córdoba, Argentina

    Directory of Open Access Journals (Sweden)

    Rodrigo S. Gómez

    2005-07-01

    Full Text Available Se efectuó un estudio para determinar la atractividad de cebos sobre las especies de Trogidae presentes en el Bosque Autóctono "El Espinal" en la ciudad de Río Cuarto (Córdoba, Argentina. Se usaron trampas de caída cebadas con carne de vacuno (3, carne de porcino (3, menudo de pollo (3, excremento humano (3, excremento de perro (3 y trampas testigo (sin cebo (3 sumando un total de 18. Se recolectaron cuatro especies de Trogidae: Omorgus suberosus (Fabricius, Polynoncus aeger (Guérin-Meneville, Polynoncus gemmingeri (Harold y Polynoncus pilularius (Germar, que mostraron una preferencia hacia los menudos en descomposición de pollo y carne de cerdo seguido por excremento de perro; sugiriendo un comportamiento necrofágico-coprofágico con una tendencia a la necrofagia. Adicionalmente se utilizaron trampas de luz capturándose ejemplares de Omorgus ciliatus (Blanchard.A study to determine the food attractivity of baits on the species of Trogidae present in the Autochthonous Forest El Espinal in Río Cuarto City (Córdoba, Argentina was performed. Pitfall traps baited with beef (3, pork (3, chicken giblets (3, human excrement (3, dog excrement (3 and witness traps (without bait (3 were used, making up a total of 18 traps. Four species of Trogidae were collected Omorgus suberosus (Fabricius, Polynoncus aeger (Guérin-Meneville, Polynoncus gemmingeri (Harold and Polynoncus pilularius (Germar, which showed a preference for decomposing meat, especially chicken and pork, followed by dog excrement. Thus suggesting a necrophagous-coprophagous behavior with a tendency to the necrophagy. In an additional sampling light traps were used; Omorgus ciliatus (Blanchard was collected in these.

  13. Therapeutics in duchenne muscular dystrophy.

    Science.gov (United States)

    Strober, Jonathan B

    2006-04-01

    Duchenne muscular dystrophy (DMD) is a fatal disorder affecting approximately 1 in 3,500 live born males, characterized by progressive muscle weakness. Several different strategies are being investigated in developing a cure for this disorder. Until a cure is found, therapeutic and supportive care is essential in preventing complications and improving the afflicted child's quality of life. Currently, corticosteroids are the only class of drug that has been extensively studied in this condition, with controversy existing over the use of these drugs, especially in light of the multiple side effects that may occur. The use of nutritional supplements has expanded in recent years as researchers improve our abilities to use gene and stem cell therapies, which will hopefully lead to a cure soon. This article discusses the importance of therapeutic interventions in children with DMD, the current debate over the use of corticosteroids to treat this disease, the growing use of natural supplements as a new means of treating these boys and provides an update on the current state of gene and stem cell therapies.

  14. Duchenne muscular dystrophy and epilepsy.

    Science.gov (United States)

    Pane, M; Messina, S; Bruno, C; D'Amico, A; Villanova, M; Brancalion, B; Sivo, S; Bianco, F; Striano, P; Battaglia, D; Lettori, D; Vita, G L; Bertini, E; Gualandi, F; Ricotti, V; Ferlini, A; Mercuri, E

    2013-04-01

    Cognitive and behavioral difficulties occur in approximately a third of patients with Duchenne muscular dystrophy. The aim of our study was to assess the prevalence of epilepsy in a cohort of 222 DMD patients. Epileptic seizures were found in 14 of the 222 DMD patients (6.3%). The age of onset ranged from 3 months to 16 years (mean 7.8). Seizures were more often focal epilepsy (n=6), generalized tonic-clonic seizures (n=4) or absences (n=4). They were present in 12 of the 149 boys with normal IQ (8.1%) and in two of the 73 with mental retardation (2.7%). In two cases the parents did not report any past or present history of seizures but only 'staring episodes' interpreted as a sign of 'poor attention'. In both patients EEG showed the typical pattern observed in childhood absence epilepsy. Our results suggest that the prevalence of epilepsy in our study (6.3%) is higher than in the general pediatric population (0.5-1%). The risk of epilepsy does not appear to increase in patients with mental retardation.

  15. Frontoparietal cortical atrophy with gliosis in the gray matter of cerebral cortex: case report Atrofia cortical frontoparietal com gliose na substância cinzenta do córtex cerebral: relato de caso

    Directory of Open Access Journals (Sweden)

    Paulo Roberto de Brito-Marques

    2002-06-01

    região periventricular, centro semi-oval bilateral, e alta hiperintensidade de sinal na região da cápsula interna esquerda, além de leve atrofia bilateral nos lobos frontoparietais. Tomografia cerebral por emissão de fóton único revelou hipoperfusão de intensidade moderada nos lobos frontais e severa nos parietais, especialmente à esquerda. Os achados de necrópsia evidenciaram atrofia cortical, sendo severa nos lobos frontais, moderada nos parietais e leve no terço posterior dos temporais. Havia também leve atrofia no neostriado. Do ponto de vista histopatológico, existia na camada cortical severa perda neuronal com intensa gliose gemioscítica e grau variável de status spongiosus. As colorações por hematoxilina-eosina e Bielschowsky não revelaram células baloniformes (células de Pick e corpúsculos argirofílicos (corpos de Pick, degeneração neurofibrilar ou placa senil. As reações imuno-histoquímicas foram negativas para anti-ubiquitina, anti-tau, anti-beta amilóide e proteína anti-prion.

  16. Análise bioquímica das metaloproteases da matriz extracelular durante atrofia experimental das glândulas salivares submandibulares em ratos Analysis of the matrix metalloproteases in duct-ligated submandibular salivary glands of rats

    Directory of Open Access Journals (Sweden)

    Ana Paula de SOUZA

    1999-04-01

    Full Text Available O presente estudo teve por objetivo analisar a expressão das metaloproteases da matriz extracelular durante a atrofia experimental das glândulas submandibulares em ratos, causada pela obstrução do ducto excretor principal. Os zimogramas realizados com extratos das porções internas e externas das glândulas salivares normais e ligadas mostraram que as principais enzimas gelatinolíticas possuíam pesos moleculares variando entre 72 kDa e 65 kDa. A atividade dessas enzimas aumentou progressivamente até o período entre 5 e 10 dias após a ligação, decrescendo nos períodos subseqüentes. Foram também detectadas bandas migrando entre 92 kDa e 72 kDa, sendo essas enzimas detectadas em quantidades significativas apenas na região da cápsula da glândula, no período de 2 dias. A confirmação de que as enzimas detectadas eram metaloproteases foi feita pelo uso de inibidores específicos. Os resultados sugerem que as metaloproteases da matriz têm um papel importante na remodelação da matriz extracelular durante a atrofia experimental da glândula submandibular.The purpose of the present study was to analyze the expression of the major metalloproteases in normal and ligated glands. The major metalloproteases detected had a molecular weight ranging from 72 to 65 kDa. The gelatinolytic activity increased progressively reaching a peak between 5 and 10 days after ligation. Bands with molecular weight ranging from 92-80 kDa were also detected in the capsule of the gland. The 92-80 kDa enzymes were only detected 2 days after ligation. The activity of these enzymes was supressed by specific inhibitors. Our results show that matrix metalloproteases play an active role in the extensive remodeling of the connective tissue that occurs during the atrophy of the submandibular gland.

  17. Muscular cystic hydatidosis: case report

    Directory of Open Access Journals (Sweden)

    Naspetti Riccardo

    2007-03-01

    Full Text Available Abstract Background Hydatidosis is a zoonosis caused by Echinococcus granulosus, and ingesting eggs released through the faeces from infected dogs infects humans. The location of the hydatid cysts is mostly hepatic and/or pulmonary, whereas musculoskeletal hydatidosis is very rare. Case presentation We report an unusual case of primary muscular hydatidosis in proximity of the big adductor in a young Sicilian man. The patient, 34 years old, was admitted to the Department of Infectious and Tropical Diseases for ultrasonographic detection, with successive confirmation by magnetic resonance imaging, of an ovular mass (13 × 8 cm in the big adductor of the left thigh, cyst-like, and containing several small cystic formations. Serological tests for hydatidosis gave negative results. A second drawing of blood was done 10 days after the first one and showed an increase in the antibody titer for hydatidosis. The patient was submitted to surgical excision of the lesion with perioperatory prophylaxis with albendazole. The histopathological examination of the bioptic material was not diriment in the diagnosis, therefore further tests were performed: additional serological tests for hydatidosis for the evaluation of IgE and IgG serotype (Western Blot and REAST, and molecular analysis of the excised material. These more specific serological tests gave positive results for hydatidosis, and the sequencing of the polymerase chain reaction products from the cyst evidenced E. granulosus DNA, genotype G1. Any post-surgery complications was observed during 6 following months. Conclusion Cystic hydatidosis should always be considered in the differential diagnosis of any cystic mass, regardless of its location, also in epidemiological contests less suggestive of the disease. The diagnosis should be achieved by taking into consideration the clinical aspects, the epidemiology of the disease, the imaging and immunological tests but, as demonstrated in this case, without

  18. Muscular strength after total hip arthroplasty

    Science.gov (United States)

    Winther, Siri B; Husby, Vigdis S; Foss, Olav A; Wik, Tina S; Svenningsen, Svein; Engdal, Monika; Haugan, Kristin; Husby, Otto S

    2016-01-01

    Background and purpose Minimizing the decrease in muscular strength after total hip arthroplasty (THA) might allow patients to recover faster. We evaluated muscular strength in patients who were operated on using 3 surgical approaches. Patients and methods In a prospective cohort study, 60 patients scheduled for primary THA were allocated to the direct lateral, posterior, or anterior approach. Leg press and abduction strength were evaluated 2 weeks or less preoperatively, 2 and 8 days postoperatively, and at 6-week and 3-month follow-up. Results Differences in maximal strength change were greatest after 2 and 8 days. The posterior and anterior approaches produced less decrease in muscular strength than the direct lateral approach. 6 weeks postoperatively, the posterior approach produced greater increase in muscular strength than the direct lateral approach, and resulted in a greater increase in abduction strength than the anterior approach. At 3-month follow-up, no statistically significant differences between the groups were found. The operated legs were 18% weaker in leg press and 15% weaker in abduction than the unoperated legs, and the results were similar between groups. Interpretation The posterior and anterior approaches appeared to have the least negative effect on abduction and leg press muscular strength in the first postoperative week; the posterior approach had the least negative effect, even up to 6 weeks postoperatively. THA patients have reduced muscle strength in the operated leg (compared to the unoperated leg) 3 months after surgery. PMID:26141371

  19. Circulating Biomarkers for Duchenne Muscular Dystrophy

    Science.gov (United States)

    Aartsma-Rus, Annemieke; Spitali, Pietro

    2015-01-01

    Abstract Duchenne muscular dystrophy is the most common form of muscular dystrophy. Genetic and biochemical research over the years has characterized the cause, pathophysiology and development of the disease providing several potential therapeutic targets and/or biomarkers. High throughput – omic technologies have provided a comprehensive understanding of the changes occurring in dystrophic muscles. Murine and canine animal models have been a valuable source to profile muscles and body fluids, thus providing candidate biomarkers that can be evaluated in patients. This review will illustrate known circulating biomarkers that could track disease progression and response to therapy in patients affected by Duchenne muscular dystrophy. We present an overview of the transcriptomic, proteomic, metabolomics and lipidomic biomarkers described in literature. We show how studies in muscle tissue have led to the identification of serum and urine biomarkers and we highlight the importance of evaluating biomarkers as possible surrogate endpoints to facilitate regulatory processes for new medicinal products. PMID:27858763

  20. Weight reduction in boys with muscular dystrophy.

    Science.gov (United States)

    Edwards, R H; Round, J M; Jackson, M J; Griffiths, R D; Lilburn, M F

    1984-06-01

    Many children with muscular dystrophy are overweight, and although weight control is pursued in some centres it is unusual to encourage severe dietary restriction for fear that it might lead to accelerated loss of muscle. In this study, two overweight boys with muscular dystrophy were monitored by whole-body nitrogen balance, total body potassium, strength and functional measurements during calorie restriction. Both patients were found to have a transient loss of nitrogen on commencing the low calorie intake: thereafter, weight loss was not found to have any deleterious effect on muscle bulk or function in either patient. It is suggested that controlled weight-reduction in obese children with muscular dystrophy is a safe and practical way of losing excess fat, which can improve mobility and self-esteem, and may possibly effect longevity.

  1. [Muscular Dystrophies Involving the Retinal Function].

    Science.gov (United States)

    Jägle, H

    2016-03-01

    Muscular dystrophies are rare disorders, with an incidence of approx. 20 in 100 000. Some dystrophies also affect retinal or optic nerve function. In such cases, the ophthalmological findings may be critical for differential diagnosis or patient counseling. For example in Duchenne muscular dystrophy, where the alteration in retinal function seems to reflect cerebral involvement. Other important forms are mitochondrial and metabolic disorders, such as the Kearns-Sayre syndrome and the Refsum syndrome. Molecular genetic analysis has become a major tool for differential diagnosis, but may be complex and demanding. This article gives an overview of major muscular dystrophies involving retinal function and their genetic origin, in order to guide differential diagnosis.

  2. Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy

    Science.gov (United States)

    ... Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness ... muscle jerks (myoclonic epilepsy). In individuals with SMA-PME, spinal muscular atrophy results from a loss of ...

  3. FDA OKs 1st Drug to Treat Duchenne Muscular Dystrophy

    Science.gov (United States)

    ... html FDA OKs 1st Drug to Treat Duchenne Muscular Dystrophy Exondys 51 seems to fill unmet need ... the first drug for a rare form of muscular dystrophy. Exondys 51 (eteplirsen) was granted accelerated approval ...

  4. Lesão muscular nos atletas

    OpenAIRE

    Barroso,Guilherme Campos; Thiele,Edilson Schwansee

    2011-01-01

    Este artigo tem por objetivo demonstrar a fisiologia, o diagnóstico e o tratamento das lesões musculares com foque nos atletas, suas demandas e expectativas. As lesões musculares estão entre as queixas mais comuns no atendimento ortopédico, ocorrendo tanto em atletas como em não atletas. Estas lesões caracterizam um desafio para os especialistas, haja vista a lenta recuperação que afasta o atleta dos treinamentos e competições, as frequentes sequelas e a recorrência das lesões. A maior parte ...

  5. Advances in gene therapy for muscular dystrophies.

    Science.gov (United States)

    Abdul-Razak, Hayder; Malerba, Alberto; Dickson, George

    2016-01-01

    Duchenne muscular dystrophy (DMD) is a recessive lethal inherited muscular dystrophy caused by mutations in the gene encoding dystrophin, a protein required for muscle fibre integrity. So far, many approaches have been tested from the traditional gene addition to newer advanced approaches based on manipulation of the cellular machinery either at the gene transcription, mRNA processing or translation levels. Unfortunately, despite all these efforts, no efficient treatments for DMD are currently available. In this review, we highlight the most advanced therapeutic strategies under investigation as potential DMD treatments.

  6. Lesiones musculares en el mundo del deporte. [Muscular injuries in the world of the sport

    OpenAIRE

    María Ángeles Cardero Durán

    2009-01-01

    Resumen En el mundo del deporte y no solo en este, sino en toda la práctica de una actividad física, son muy frecuentes las lesiones musculares. Hay muchos tipos de lesiones musculares de los que hablaremos más adelante, como pueden ser desgarros musculares, calambres, contracturas etc., que tienen mayor incidencia en la musculatura poli-articular, por condiciones de acumulación de fatiga, trabajo no realizado correctamente, o condiciones ambientales desfavorables. Es importante el dia...

  7. Afecção do tendão supra-espinal e afastamento laboral Supraspinatus tendon affection and sick leave

    Directory of Open Access Journals (Sweden)

    Josiane Schadeck de Almeida

    2008-04-01

    Full Text Available As afecções do manguito rotador, dentre elas as relacionadas ao tendão supra-espinal, são problemas comuns na população, sobretudo devido à sobrecarga ocupacional, o que leva a altos índices de afastamento do trabalho. Buscou-se, então, comparar a necessidade de afastamento de trabalho entre os diferentes estados da afecção do tendão supra-espinal e entre cinco diferentes grupos profissionais, tendo a participação de pacientes que apresentavam diagnóstico da afecção. Os indivíduos foram agrupados quanto ao estado da doença (tendinite, ruptura parcial, ruptura total e quanto aos aspectos biomecânicos da ocupação (ramo de serviços, construção civil, trabalhadores domésticos, lavradores e seguranças. Teste qui-quadrado de Pearson, análise de dependência e teste exato para uma proporção foram realizados. Os resultados apontaram que 62 (55% estavam afastados da atividade laboral e que os grupos com maior número de afastados foram o do ramo de serviços (38,71% e lavradores (22,58%, segundo Pearson. A maior freqüência de casos de afastamento foi registrada no estágio de tendinite (pRotator cuff disease, among others damage of the supraspinatus tendon mainly caused by work overload, is a common problem in the population resulting in a high incidence of sick leaves. In the present survey we sought to compare the need for sick leaves in relation to different stages of supraspinatus tendon affection and in relation to five different groups of workers. Our study counted with the participation of patients who were diagnosed with this condition. The individuals were grouped according to stages of the disease (tendonitis, partial rupture, total rupture and according to the biomechanical aspects of their occupation (general services, civil construction, domestic workers, farm workers and security guard services. Statistical analysis was performed using Pearson's chi-square test, dependence analysis and exact test. Results

  8. Padronização da lesão de medula espinal em ratos Wistar Standardization of spinal cord injury in Wistar rats

    Directory of Open Access Journals (Sweden)

    Nilson Rodnei Rodrigues

    2010-01-01

    Full Text Available OBJETIVO: Padronizar um modelo experimental de lesão de medula espinal em ratos Wistar, utilizaram-se um equipamento computadorizado para impacto por queda de peso e os parâmetros determinados pelo Multicenter Animal Spinal Cord Injury Study - MASCIS. MÉTODOS: Avaliaram-se 30 ratos, com idade variando entre 20 e 25 semanas de vida. O peso variou de 200 a 300 g, para as fêmeas, e de 232 a 430 g para os machos. Realizaram-se impactos com pesos de 10 g de 12,5; 25 e 50 mm de altura, controlando-se a velocidade de impacto e o coeficiente de compressão. O impacto ocorreu sobre a superfície da medula espinal na altura da décima vértebra torácica, após laminectomia. Monitoraram-se os sinais vitais e realizaram-se gasometrias previamente e posteriormente à lesão da medula. O volume de lesão foi avaliado pela análise quantitativa dos íons de sódio e potássio. RESULTADOS: Verificaram-se correlações estatisticamente significantes entre o volume de lesão e os parâmetros mecânicos. O volume de lesão provocado por queda de 50 mm de altura foi superior aos de 12,5 e 25 mm, que não diferiram entre si. CONCLUSÃO: O modelo demonstrou-se eficaz e capaz de gerar lesões medulares padronizadas em ratos Wistar.OBJECTIVE: To standardize an experimental model of spinal cord injury in Wistar rats, computerized weight fall impact equipment were used and the parameters were used determined by the multicenter animal spinal cord injury study - MASCIS. METHODS: Thirty rats were used, with age varying between 20 and 25 weeks, and weight ranging from 200 to 300g for females, and from 232 to 430g for males. The impacts were done with weights of 10g starting from 12.5, 25 and 50 mm of height, and the impact speed and compression coefficient were obtained. The impact occurred on the surface of the spinal cord at the level of the tenth thoracic vertebra after laminectomy. Vital signs were monitored and gas analysis was made before and after the spinal cord

  9. Trasplante de glía envolvente olfatoria para reparar lesiones crónicas de la médula espinal de ratas adultas: de roedores a primates.

    OpenAIRE

    Muñoz-Quiles, Cintia

    2007-01-01

    RESUMEN El trasplante de glía envolvente olfatoria (OEG) se ha convertido en una de las estrategias experimentales más prometedoras para reparar los diferentes tipos de lesión de la médula espinal de mamíferos. Estas células promueven la recuperación funcional y la regeneración axonal en ratas adultas con lesiones medulares traumáticas de diferente gravedad. En la primera parte de este trabajo nos hemos centrado en el estudio, in vivo, del efecto de la OEG de rata adulta como terapia re...

  10. Uso da gordura e fáscia muscular autólogas no tratamento da insuficiência glótica Glottic insufficiency: the use of fat and fascia grafts

    Directory of Open Access Journals (Sweden)

    Christiano de Giacomo Carneiro

    2006-02-01

    Full Text Available Uma das alterações mais complexas que acometem as pregas vocais é a incompetência ou insuficiência glótica. Pode ser causada por alterações de mobilidade, fibroses, atrofias ou arqueamento das pregas vocais, e pode levar, entre outras situações como aspiração e tosse pouco efetiva, a graus variados de disfonia. A partir do início do século 20, surgiram vários procedimentos cirúrgicos para a reabilitação da competência aerodinâmica e valvular da glote, por meio da injeção de substâncias heterólogas no espaço paraglótico. Os enxertos autólogos, como a gordura e a fáscia muscular, inseridos ou injetados nas pregas vocais inicialmente mostraram resultados promissores além de segurança e riscos mínimos de reações indesejadas. Neste artigo de revisão, os autores discutem o uso da gordura e da fáscia muscular na incompetência glótica, abordando aspectos históricos, o processo inflamatório gerado após a enxertia, as técnicas cirúrgicas mais utilizadas e o rendimento dos enxertos.Glottic insufficiency has been managed since the beginning of the twentieth century. The autologous grafts, as fat and muscular fascia, have shown safety and good results. The authors discuss the advantages and disadvantages of using fat and fascia in the management of glottic insufficiency, regarding historical aspects, inflammatory process and surgical techniques.

  11. Muscular Imbalance Correction in the Power Fitness Training

    OpenAIRE

    Olga E. Aftimichuk; Alexander V. Varvarich

    2013-01-01

    Muscular imbalance is one of the manifestations of pathological-biomechanical changes in muscular-skeletal system. It is the result of tonus-power imbalance of short and relaxed muscles. Muscle shortening is the most striking sign of muscular imbalance. Hypodynamia and passive lifestyle can cause such results. The paper justifies the experimental technique of women muscular imbalances correction by means of power training. Selection of exercises, weights and machines was made, taking into acc...

  12. Spinal cord tumor in a patient with multiple sclerosis: case report Tumor de medula espinal em paciente com esclerose múltipla: relato de caso

    Directory of Open Access Journals (Sweden)

    Mario Augusto Taricco

    2002-06-01

    Full Text Available The association between multiple (MS sclerosis and cerebral gliomas has been sporadically reported in the literature, causing a long lasting discussion if these lesions occur coincidentally or if MS plaques may actually lead to the genesis of gliomas. We report a 36 year old man who developed a rapid onset of right side weakness and loss of vision, having established a diagnosis of MS which was confirmed by CSF analysis and MRI. Nine years later he developed progressive tetraparesis, leading initially to suspicion of illness relapse and a demyelinating plaque in the spinal cord. However, after MRI investigation, a spinal cord tumor was diagnosed. The patient underwent cervical spine laminotomy for microsurgical removal of the spinal cord tumor diagnosed as ependimoma. The neurological deficits improved significantly.A associação entre esclerose múltipla (EM e gliomas cerebrais foi relatada esporadicamente na literatura, levando a longa discussão quanto à possibilidade das placas de esclerose estarem envolvidas na etiologia dos gliomas ou dessas lesões ocorrerem coincidentemente. Relatamos um paciente de 36 anos que desenvolveu hemiparesia direita rapidamente progressiva e perda visual, sendo estabelecido o diagnóstico de EM após análise do LCR e imagens de RM de encéfalo. Após nove anos o paciente desenvolveu tetraparesia lentamente progressiva, levantando inicialmente a hipótese de atividade da doença e aparecimento de placa de EM na medula espinal. Contudo, após investigação com RM de coluna, um tumor medular foi diagnosticado. Foi então submetido a laminectomia cervical para ressecção microcirúrgica do tumor, que foi diagnosticado como ependimoma. Os déficits neurológicos melhoraram significativamente.

  13. 9 CFR 311.35 - Muscular inflammation, degeneration, or infiltration.

    Science.gov (United States)

    2010-01-01

    ... 9 Animals and Animal Products 2 2010-01-01 2010-01-01 false Muscular inflammation, degeneration, or infiltration. 311.35 Section 311.35 Animals and Animal Products FOOD SAFETY AND INSPECTION SERVICE... PARTS § 311.35 Muscular inflammation, degeneration, or infiltration. (a) If muscular lesions are...

  14. Congenital monomelic muscular hypertrophy of the upper extremity.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Zophel, O.T.; Lammens, M.M.Y.; Zwarts, M.J.

    2009-01-01

    Pathological muscular hypertrophy results from either muscular or neurogenic damage. Rarely, it is caused by a congenital malformation consisting of a unilateral muscular hyperplasia of the upper extremity. We report on a young woman with an enlargement of the right upper extremity. Electromyography

  15. Muscular ventricular septal defects: A reappraisal of the anatomy

    NARCIS (Netherlands)

    Wenink, A.C.G.; Oppenheimer-Dekker, A.; Moulaert, A.J.

    1979-01-01

    Among 79 autopsy specimens of hearts with an isolated ventricular septal defect, there were 29 cases of muscular defect. Among 60 hearts with complete transposition of the great arteries and a ventricular septal defect, there were 13 cases with a muscular defect. All muscular defects could be classi

  16. Quality of life of primary caregivers of spinal cord injury survivors Calidad de vida de cuidadores familiares de personas con lesión de medula espinal Qualidade de vida de cuidadores familiares de pessoas com lesão da medula espinal

    Directory of Open Access Journals (Sweden)

    Ágatha Graça

    2013-02-01

    Full Text Available The aim of this study was to analyze quality of life of caregivers who are relatives of patients with spine cord injury (SCI. Fourteen women (seven caregivers and seven controls were evaluated by the Medical Outcomes Study 36 - Item Short-Form Health Survey (SF-36 and the Caregiver Burden Scale (CBS Questionnaires. The data from both questionnaires were compared using the Mann-Whitney U testing procedure for differences between caregivers and controls (p0.05, characterized by the percentage difference of 62%, 66.7%, 55%, 50%, 57% and 63% for tension, isolation, disappointment, emotional involvement, environment and overall score, respectively. The CBS questionnaire was more adequate for verifying quality of life of caregivers of SCI patients, and caregiving may have a negative impact on their quality of life.Este estudio objetivó evaluar la calidad de vida de los cuidadores familiares de pacientes con Lesión de Médula Espinal (LM. Catorce mujeres (siete cuidadores familiares y 7 controles se sometieron a la evaluación del cuestionario SF-36 y el cuestionario CBS. Para la comparación entre los grupos acerca de los cuestionarios se utilizó el test de Mann-whitney (p0,05, por la diferencia de porcentaje del del 62 %, 66,7 %, 55 %, 50 %, 57 % y 63 %, para una tensión general, aislamiento, decepción, implicación emocional, el medio ambiente y puntuación global, respectivamente. El cuestionario CBS ha demostrado ser apropiado para comprobar la calidad de vida de los cuidadores de personas con LM y el ato de cuidar produce un impacto negativo sobre la calidad de vida de estos.Este estudo objetivou avaliar a qualidade de vida de cuidadores familiares de pacientes com Lesão da medula espinal (LM. Quatorze mulheres (sete cuidadoras familiares e sete controles foram submetidas à avaliação pelo questionário Medical Outcomes Study 36 - Item Short-Form Health Survey (SF-36 e pelo questionário Caregiver Burden Scale (CBS. Utilizou-se o Teste de

  17. Resúmenes de los trabajos sobre las Enfermedades Neuromusculares

    Directory of Open Access Journals (Sweden)

    Congreso Nacional de Neurología

    2010-03-01

    Full Text Available Las enfermedades neuromusculares constituyen un conjunto de afectaciones que afectan las neuronas motoras periférica, las vías motoras eferentes o los efectores (músculos esqueléticos. Sus manifestaciones clínicas son muy variadas y dependen de la causa y de los niveles de afectación. En este acápite se pueden encontrar los resúmenes de trabajos relacionados con el síndrome de Guillain Barre, polineuropatía diabética, Atrofia Muscular Espinal, Distrofia miotónica y otros todos presentados en el salón que abordó estas enfermedades.

  18. [Muscular metastases. A case report (author's transl)].

    Science.gov (United States)

    Trèves, R; Barruche, D; Desproges-Gotteron, R

    Muscular metastases are exceptionally reported. The authors present a case of crural neuralgia in relation with a localisation in the psoas iliacus of a gastric carcinoma. A review of literature defines the rarity of this facts (156 cases) the etiology (carcinome more often) and the explication who is still obscur.

  19. Cardiomyopathy in becker muscular dystrophy:Overview

    Institute of Scientific and Technical Information of China (English)

    Rady Ho; My-Le Nguyen; Paul Mather

    2016-01-01

    Becker muscular dystrophy(BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed.

  20. A Drosophila model for Duchenne muscular dystrophy

    NARCIS (Netherlands)

    Plas, Mariska Cathelijne van der

    2008-01-01

    Duchenne Muscular Dystrophy (DMD) is a severe X-linked disease characterized by progressive muscle wasting and sometimes mild mental retardation. The disease is caused by mutations in the dystrophin gene. DMD is correlated with the absence of Dp427, which is located along the sarcolemma in skeletal

  1. Brain Function in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2002-02-01

    Full Text Available The role of dystrophin disorders in the CNS function of boys with Duchenne muscular dystrophy (DMD and the dystrophin-deficient mdx mouse, an animal model of DMD, is reviewed at the University of New South Wales, University of Sydney, Australia.

  2. Sarcosporidiose muscular: registro de um caso

    Directory of Open Access Journals (Sweden)

    João Aris Kouyoumdjian

    1985-09-01

    Full Text Available Um caso de sarcosporidiose muscular em uma paciente de 29 anos de idade é relatado. O quadro clínico evidenciava síndrome miopática tipo cinturas com leve mialgia de 4 anos de evolução. A biópsia muscular do músculo deltóide mostrou a presença de formações císticas de permeio a fibras musculares normais. O diâmetro, comprimento e provável cápsula dessas formações são características da infestação pelo coccídeo Sarcocystis sp. Outras características histopatológi-cas e a distinção com as formações císticas da toxoplasmose são comentadas. A maioria dos casos descritos na literatura - pouco mais de três dezenas - evidencia a ausência de quadro clínico típico, devendo a moléstia entrar no diagnóstico diferencial ocasional das doenças musculares esqueléticas ou cardíacas, inflamatórias e/ou parasitárias.

  3. Skull development in the muscular dystrophic mouse

    DEFF Research Database (Denmark)

    Vilmann, H; Kirkeby, S; Moss, M L

    1989-01-01

    Roentgencephalometric tracings of skulls of 7-week-old normal and muscular dystrophic mice were compared. A marked size reduction of the dystrophic skulls relative to the normal ones was observed. However, the visceral parts of the dystrophic skull were more reduced in size than the neural parts....

  4. Visuospatial Attention Disturbance in Duchenne Muscular Dystrophy

    Science.gov (United States)

    De Moura, Maria Clara Drummond Soares; do Valle, Luiz Eduardo Ribeiro; Resende, Maria Bernadete Dutra; Pinto, Katia Osternack

    2010-01-01

    Aim: The cognitive deficits present in the Duchenne muscular dystrophy (DMD) are not yet well characterized. Attention, considered to be the brain mechanism responsible for the selection of sensory stimuli, could be disturbed in DMD, contributing, at least partially, to the observed global cognitive deficit. The aim of this study was to…

  5. Clinical features of facioscapulohumeral muscular dystrophy 2.

    NARCIS (Netherlands)

    Greef, J.C. de; Lemmers, R.J.; Camano, P.; Day, J.W.; Sacconi, S.; Dunand, M.; Engelen, B.G.M. van; Kiuru-Enari, S.; Padberg, G.W.A.M.; Rosa, A.L.; Desnuelle, C.; Spuler, S.; Tarnopolsky, M.; Venance, S.L.; Frants, R.R.; Maarel, S.M. van der; Tawil, R.

    2010-01-01

    OBJECTIVE: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4

  6. Genetics Home Reference: spinal muscular atrophy

    Science.gov (United States)

    ... and abdomen, weakness in the leg muscles, involuntary muscle contractions, tremors, and a protrusion of the abdomen thought to be related to muscle weakness. Some affected individuals experience difficulty swallowing and problems with bladder and ... Frequency Spinal muscular atrophy affects 1 in 6,000 to 1 ...

  7. Lesiones musculares en el mundo del deporte. [Muscular injuries in the world of the sport

    Directory of Open Access Journals (Sweden)

    María Ángeles Cardero Durán

    2009-12-01

    Full Text Available Resumen En el mundo del deporte y no solo en este, sino en toda la práctica de una actividad física, son muy frecuentes las lesiones musculares. Hay muchos tipos de lesiones musculares de los que hablaremos más adelante, como pueden ser desgarros musculares, calambres, contracturas etc., que tienen mayor incidencia en la musculatura poli-articular, por condiciones de acumulación de fatiga, trabajo no realizado correctamente, o condiciones ambientales desfavorables. Es importante el diagnóstico y el tratamiento precoz, para poder intervenir y conseguir que el deportista vuelva lo antes posible a su actividad y al proceso de competición. En este artículo hablaremos de los distintos tipos de lesiones musculares, de las causas y mecanismos de producción, así como del tratamiento fisioterápico que se emplea en un deportista en estos casos. Palabras claves: Lesión, músculo, deporte. Abstract In the world of the sport and not only in this one, but in the whole practice of a physical activity, the muscular injuries are very frequent. There are many types of muscular injuries about which we are going to speak later, like can be muscular tears, cramps, contractions etc. That have major incident in the musculature poly-articulate, because of conditions of accumulation of fatigue, the work not done correctly, or  unfavorable environmental conditions.  The diagnosis and the precocious treatment is important, to be able to intervene and achieve that the sportsman come back as soon as possible to the activity and to the process of competition.  In this article we are going to speak about the different types of muscular injuries, about the reasons and mechanisms of production, as well as about the physical therapy diagnosed in these cases.  Key words: Injury, muscle, sport

  8. [Muscular strength in patients with fibromyalgia. A literature review

    DEFF Research Database (Denmark)

    Dombernowsky, T.; Dreyer, L.; Bartels, E.M.;

    2008-01-01

    Do patients with fibromyalgia (FM) have reduced muscular strength? We examined 22 articles and conclude from the results of these that FM patients have reduced muscular strength in their hands and quadriceps. The material also suggests generalised reduced muscular strength. However, the studies...... have several methodological shortcomings and future studies should be carefully designed with respect to patients as well as the control group and should be larger. To avoid CNS influence from e.g. fatigue and pain, muscular electro-stimulation may be used to ensure that the actual maximal muscular...

  9. Cardiac involvement in children with neuro-muscular disorders

    Directory of Open Access Journals (Sweden)

    E. N. Arkhipova

    2015-01-01

    Full Text Available Many inherited neuromuscular disorders include cardiac involvement as a typical clinical feature. Among the most common of them is the group of muscular dystrophies. Dilated cardiomyopathy, ventricular arrhythmias, atrial fibrillations, atrioventricular and intraventricular conduction abnormalities, and sudden cardiac death are well known pathological findings in Duchenne muscular dystrophies, myotonic dystrophy type I and 2, Emery-Dreifuss muscular dystrophies and different types of limb-girdle muscular dystrophies and other disorders. Detection of cardiac pathology in patients with different muscular dystrophies is possible with ECG, echocardiography and cardiovascular magnetic resonance imaging, which are recommended for screening and early cardioprotective treatment.

  10. Changes in muscular strength and electromyogram in rats with muscular disuse atrophy following electrical stimulation

    Institute of Scientific and Technical Information of China (English)

    Xiaoyu Lü; Xuanming Hao

    2006-01-01

    BACKGROUND: Atrophy of skeletal muscle is found under the condition of muscular disuse or in the process of fixation. It is affected by fixation, and electromyogram (EMG) discharge and muscular strength levels will be significantly decreased with accelerating tendency. Electrical stimulation (ES) therapy can release the velocity of muscular disuse atrophy effectively, so it is an effective method for preventing and treating muscular disuse atrophy and accelerating rehabilitation velocity following removal of fixation.OBJECTIVE: To observe the effect of ES therapy at different time points following the fixation of rat models of muscular disuse atrophy on muscular strength and EMG of quadriceps femoris.DESIGN: A randomized and controlled animal experiment.SETTING: Department of Rehabilitation and Physiotherapy, Guangzhou General Hospital of Guangzhou Military Area Command of Chinese PLA; College of Sports Science, South China Normal University.MATERIALS: Male SD rats, of clean grade, aged 4 months old, weighing (230±10) g, were provided by the Animal Experimental Center of Sun Yat-sen University. EMG measurement and analysis system (NEC Company, Japan) and four-channel recorder (NEC Company, Japan) were used in this experiment.METHODS: This experiment was carried out in the Laboratory of Human Sports Science, South China Normal University between September 2003 and March 2004. Totally 125 successful SD rat models of muscular disuse atrophy were randomly divided into 5 groups with 25 rats in each by a lot: normal control group, in which, the rats were untouched; ES 24 hours, 1, 2 and 3 weeks groups: the knees of rats in these four groups were fixed. Rats in four groups underwent ES therapy at 24 hours, 1, 2 and 3 weeks after fixation. T90- Ⅱ computer ES muscular strength training instrument was used in ES therapy every other day. The instrument was set as square wave,5 mA current intensity and 10 minutes a day. Muscular strength of quadriceps femoris and data of

  11. Entrenamiento muscular de las extremidades inferiores en el paciente con enfermedad pulmonar obstructiva crónica Lower extremity exercise training in the rehabilitation of patients with chronic obstructive pulmonary diseas

    Directory of Open Access Journals (Sweden)

    DIEGO VARGAS B

    2011-06-01

    Full Text Available Diversos estudios han demostrado que la pobre tolerancia al ejercicio de los pacientes con Enfermedad Pulmonar Obstructiva Crónica (EPOC es de origen multifactorial. Sin embargo, un importante factor limitante del ejercicio en los pacientes con EPOC es la disfunción muscular periférica, sobre todo de los músculos de las extremidades inferiores, que se caracteriza por atrofia muscular y reducida resistencia a la fatiga dado por alteraciones morfológicas y metabólicas de los músculos periféricos. En este capitulo se evaluó la evidencia científica que existe en cuanto a los beneficios del entrenamiento muscular de extremidades inferiores (EEII en la rehabilitación respiratoria en pacientes con EPOC. También se revisan las características técnicas de dicho entrenamiento. Se recomienda la realización de entrenamiento muscular de EEII en rehabilitación respiratoria de pacientes con EPOC. El entrenamiento muscular de extremidades inferiores otorga significativos beneficios a los pacientes con EPOC en cuanto a disminuir la disnea, mejorar la capacidad de ejercicio y la calidad de vida (calidad de la evidencia A, recomendación fuerte. El entrenamiento de EEII de alta intensidad y con intervalos produce significativos beneficios fisiológicos.Several studies have shown that poor exercise tolerance in Chronic Obstructive Pulmonary Disease (COPD patients is multifactorial in origin. However, a major exercise-limiting factor in COPD is peripheral muscle dysfunction, particularly the muscles of the lower extremities, characterized by atrophic muscles and reduced fatigue resistance due to morphological and metabolic alterations of peripheral muscles. This chapter therefore evaluated the scientific evidence regarding the beneficial effect of lower extremities exercise in the pulmonary rehabilitation in COPD patients. The technical characteristics of this exercise training were also reviewed. Exercise training of lower limbs was recommended in

  12. Regeneración axonal posterior a lesiones traumáticas de médula espinal: Papel crítico de galectina-1

    Directory of Open Access Journals (Sweden)

    Héctor R Quintá

    2014-08-01

    Full Text Available Al producirse una lesión de médula espinal (LME, un sinnúmero de proteínas inhibidoras de la regeneración axonal ocupan el sitio de lesión en forma secuencial. La primer proteína en llegar al mismo se conoce como semaforina 3A (Sema3A, siendo además una de las más potentes por su acción de inhibir la regeneración axonal. A nivel mecanístico la unión de esta proteína al complejo-receptor neuronal neuropilin-1 (NRP-1/PlexinA4 evita que se produzca regeneración axonal. En este trabajo de revisión se discutirá la acción de galectin-1 (Gal-1, una proteína endógena de unión a glicanos, que selectivamente se une al complejo-receptor NRP-1/PlexinA4 de las neuronas lesionadas a través de un mecanismo dependiente de interacciones lectina-glicano, interrumpiendo la señalización generada por Sema3A y permitiendo de esta manera la regeneración axonal y recuperación locomotora luego de producirse la LME. Mientras ambas formas de Gal-1 (monomérica y dimérica contribuyen a la inactivación de la microglia, solo la forma dimérica de Gal-1 es capaz de unirse al complejo-receptor NRP-1/PlexinA4 y promover regeneración axonal. Por lo tanto, Gal-1 dimérica produce recuperación de las lesiones espinales interfiriendo en la señalización de Sema3A a través de la unión al complejo-receptor NRP-1/PlexinA4, sugiriendo el uso de esta lectina en su forma dimérica para el tratamiento de pacientes con LME.

  13. New Advanced Technology for Muscular Dystrophy

    Science.gov (United States)

    2009-11-01

    References Aristotle. 350 BC. Historia Animalium: Books VII–X. 1991 edition. D.M. Balme, editor. Harvard University Press, Cambridge, MA. 435–437...hematological disease, and have been proposed as a source for cell based therapies of muscular dystrophy. Since the University of Minnesota is a center...Blood and Marrow Transplantation program at the University of Minnesota to assure that we receive appropriate tissues as they become available. Having

  14. Very severe spinal muscular atrophy (Type 0).

    Science.gov (United States)

    Al Dakhoul, Suleiman

    2017-01-01

    This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth. The patient was homozygously deleted for exon 7 and exon 8 of the survival motor neuron gene 1. Very severe SMA should be considered in the differential diagnosis of respiratory distress at birth, and more research should be dedicated to investigate the genetic determinants of its widely variable phenotypes.

  15. Growth hormone evaluation in Duchenne muscular dystrophy.

    Science.gov (United States)

    Merlini, L; Granata, C; Ballestrazzi, A; Cornelio, F; Tassoni, P; Tugnoli, S; Cacciari, E

    1988-10-01

    Growth hormone (GH) release with pharmacological tests and sleep test, somatomedin C and auxological features were studied in 10 patients affected by Duchenne Muscular Dystrophy. GH release in these patients seems to be lower than normal; moreover some of them are of short stature without an evident relationship with GH deficit. The possible significance of the data obtained is discussed, particularly in relation to the clinical course of the disease, and to current therapeutic trials with a GH release inhibitor (mazindol).

  16. The limb-girdle muscular dystrophies.

    Science.gov (United States)

    Wicklund, Matthew P; Kissel, John T

    2014-08-01

    A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-girdle dystrophies. In this large group of disorders, certain distinctive features often can guide clinicians to a correct diagnosis.

  17. [Management of myocardial damage in muscular dystrophy].

    Science.gov (United States)

    Tamura, Takuhisa

    2011-11-01

    Heart failure (HF) is a fatal complication in many muscular dystrophy cases and has become the most common cause of death in Duchenne muscular dystrophy (DMD) since 2001. HF deaths in DMD occur in young patients and increase, along with respiratory failure, in older patients. Managing HF, therefore, is the most important component of DMD treatment. Management of HF is necessary in DMD patients of all ages because myocardial damage progresses regardless of age and disability. Electrocardiography, echocardiography, myocardial single-photon emission computed tomography (SPECT), and natriuretic peptides are used for the diagnosis of myocardial damage and chronic HF. Tissue Doppler echocardiography is in particularly useful for early detection of minute myocardial damage and dysfunction in DMD. The first-line drugs for chronic HF are angiotensin-converting enzyme inhibitors, and the prognosis of DMD patients has been improved using these drugs and beta-blockers. Diuretics are added in the presence of pulmonary congestion. Digoxin is most effective at a blood level of 0.5-0.8 ng/mL because of its pharmacokinetics in DMD. Surgical treatment may be necessary in cases of intractable HF. Cardiac resynchronization therapy (biventricular pacing), a treatment with an artificial pacemaker, is indicated for cases that meet specific criteria, including HF with ventricular dyssynchrony. Applications of partial left ventriculectomy (Batista procedure) and left ventricular assist devices in muscular dystrophy are likely in the near future.

  18. Proximal spinal muscular atrophy: current orthopedic perspective

    Directory of Open Access Journals (Sweden)

    Haaker G

    2013-11-01

    Full Text Available Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective "survival motor neuron" (SMN protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. Active research for possible treatment options has become possible since the disease-causing gene defect was identified in 1995. Nevertheless, a causal therapy is not available at present, and therapeutic management of SMA remains challenging; the prolonged survival is increasing, especially orthopedic, respiratory and nutritive problems. This review focuses on orthopedic management of the disease, with discussion of key aspects that include scoliosis, muscular contractures, hip joint disorders, fractures, technical devices, and a comparative approach of conservative and surgical treatment. Also emphasized are associated complications including respiratory involvement, perioperative care and anesthesia, nutrition problems, and rehabilitation. The SMA disease course can be greatly improved with adequate therapy with established orthopedic procedures in a multidisciplinary therapeutic approach. Keywords: spinal muscular atrophy, scoliosis, contractures, fractures, lung function, treatment, rehabilitation, surgery, ventilation, nutrition, perioperative management

  19. Subpoblaciones neuronales presentes en cultivos primarios de ganglio espinal y su relación con la infección in vitro por virus de rabia

    Directory of Open Access Journals (Sweden)

    Hernán Hurtado

    2000-02-01

    Full Text Available

    El virus de la rabia presenta un fuerte tropismo neuronal y que produce una encefalitis generalmente letal. En un accidente rábico clásico, producido por la mordedura de un animal infectado, el virus es captado por terminaciones nerviosas motoras, autonómicas o sensoriales. Si es captado por estas últimas, el virus se transporta retrógradamente hacia los somas neuronales ubicados en los ganglios espinales y de ahí pasa hasta el Sistema Nervioso Central en donde ejerce su acción patógena. Por este motivo los cultivos de ganglio espinal son un modelo relevante para estudiar la interacción entre el virus de la rabia y las neuronas sensoriales presentes en ellos. En estos cultivos se encuentran dos tipos de células, neuronas y células no neuronales (fibroblastos y células de Schwann. Al inocular los cultivos con virus de rabia cepa CVS (Challenge Virus Standard, a pesar de que las células no neuronales son la mayoría, las que se infectan en mayor proporción son las neuronas, lo que confirma el marcado neurotropismo del virus. Adicionalmente a esto, dentro de la población neuronal, parece existir una subpoblación con mayor susceptibilidad hacia la infección por el virus. Para comprobar esta hipótesis, se caracterizaron las subpoblaciones neuronales presentes en estos cultivos utilizando un criterio morfológico (diámetro neuronal y uno bioquímico (presencia de neuropéptidos como marcadores de subpoblaciones en el ganglio. Se realizó una técnica de doble inmunocitoquímica para virus rábico y los neuropéptidos Sustancia P (SP, Neuropéptido Y (NPY, Galanina (GAL, Péptido Relacionado con el Gen de la Calcitonina (CGRP y Péptido Intestinal Vasoactivo (VIP, que clásicamente se usan para la definición de subpoblaciones. El análisis morfométrico demostró que en nuestros cultivos el 85% de las neuronas presentes son de pequeño diámetro (<25

  20. Ways of increasing muscular activity by means of isometric muscular exertion

    Science.gov (United States)

    Kovalik, A. V.

    1980-01-01

    The effect of isometric muscular exertion on the human body was investigated by having subjects perform basic movements in a sitting position in the conventional manner with additional muscle tension at 50% maximum force and at maximum force. The pulse, arterial pressure, skin temperature, respiratory rate, minute respiratory volume and electrical activity of the muscles involved were all measured. Performance of the exercises with maximum muscular exertion for 20 sec and without movement resulted in the greatest shifts in these indices; in the conventional manner substantial changes did not occur; and with isometric muscular exertion with 50% maximum force with and without movement, optimal functional shifts resulted. The latter is recommended for use in industrial exercises for the prevention of hypodynamia. Ten exercises are suggested.

  1. Media's influence on the drive for muscularity in undergraduates.

    Science.gov (United States)

    Cramblitt, Brooke; Pritchard, Mary

    2013-12-01

    Although research has found that body ideals presented by the media influence women's body dissatisfaction, less is known about media's influence on men's body satisfaction. An online survey examining media use, the drive for muscularity, and internalization of appearance and body shape ideals was given to a sample of 311 participants comprised of both men and women. Results indicated (a) the more time men and women reported watching television, the higher their reported drive for muscularity (b) total hours of viewing sports-related, image-focused, and entertainment television related to increased drive for muscularity in women (c) drive for muscularity in men related to watching image-focused television and reading men's health magazines, and (d) internalization of athletic attitudes towards appearance mediated the relationship between total television watched and drive for muscularity in both genders. Clinicians may wish to utilize these findings when treating men and women suffering from drive for muscularity and body dysmorphia.

  2. Severe spinal muscular atrophy variant associated with congenital bone fractures.

    Science.gov (United States)

    Felderhoff-Mueser, Ursula; Grohmann, Katja; Harder, Anja; Stadelmann, Christine; Zerres, Klaus; Bührer, Christoph; Obladen, Michael

    2002-09-01

    Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMNI) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, cerebellar hypoplasia) have been designated in the literature as infantile spinal muscular atrophy plus forms. In addition, the combination of severe spinal muscular atrophy and neurogenic arthrogryposis has been described. We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures.

  3. Management of scoliosis in patients with Duchenne muscular dystrophy and spinal muscular atrophy: A literature review.

    Science.gov (United States)

    Garg, Sumeet

    2016-01-01

    Scoliosis occurs in nearly all non-ambulatory children with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Non-operative treatments have not been shown to be effective at preventing progression of scoliosis. Progressive scoliosis can impact the ability of patients to sit comfortably, be cosmetically unappealing, and in severe cases exacerbate pulmonary disease. The main goal of operative treatment is to improve sitting balance and prevent progression of scoliosis. Complication rates are high and there is little data on effect of operative treatment on quality of life in children with SMA and DMD. Comprehensive multi-disciplinary pre-operative evaluations are vital to reduce the risks of operative treatment.

  4. Distrofia muscular de Emery-Dreifuss: relato de caso Emery-Dreifuss muscular dystrophy: case report

    Directory of Open Access Journals (Sweden)

    Ana Lucila Moreira Carsten

    2006-06-01

    Full Text Available A distrofia muscular de Emery-Dreifuss é uma forma de distrofia muscular freqüentemente associada a contraturas articulares e defeitos de condução cardíaca, que pode ser causada pela deficiência da proteína emerina na membrana nuclear interna das fibras musculares. Descrevemos o caso de um homem de 19 anos com diminuição de força muscular, hipotrofia nas cinturas escapular e pélvica, disfagia, contraturas articulares em cotovelos e tornozelos, apresentando história familiar compatível com herança ligada ao cromossomo X. A investigação mostrou creatinaquinase sérica elevada, eletrocardiograma com bloqueio atrioventricular de primeiro grau e bloqueio de ramo direito, eletroneuromiografia normal, biópsia muscular com alterações miopáticas e a análise por imuno-histoquímica mostrou deficiência de emerina. São discutidas as manifestações clínicas e genéticas, alterações laboratoriais e eletroneuromiográficas, bem como, a importância do estudo do padrão de herança no aconselhamento genético destas famílias.The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibers. A 19-years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early contractures in elbows and ankles, with familiar history compatible with X-linked inheritance form. The investigation showed increased serum creatinekinase levels electrocardiogram had a first degree atrioventricular block and right bundle branch block normal electromyography and nerve conduction study muscle biopsy disclosed myopathic characteristics and nuclear protein immunohystochemical analysis showed deficiency of emerin. The clinical and genetics manifestations, laboratorial and electromyography changes, as well as, the study of the pattern of inheritance for

  5. Distinct genetic regions modify specific muscle groups in muscular dystrophy

    OpenAIRE

    2010-01-01

    Phenotypic expression in the muscular dystrophies is variable, even with the identical mutation, providing strong evidence that genetic modifiers influence outcome. To identify genetic modifier loci, we used quantitative trait locus mapping in two differentially affected mouse strains with muscular dystrophy. Using the Sgcg model of limb girdle muscular dystrophy that lacks the dystrophin-associated protein γ-sarcoglycan, we evaluated chromosomal regions that segregated with two distinct quan...

  6. Molecular mechanisms in muscular dystrophy: a gene expression profiling study.

    OpenAIRE

    2006-01-01

    The muscular dystrophies are a group of neuromuscular disorders characterized by progres¬sive muscle weakness and wasting. Although the underlying genetic defects of a large number of muscular dystrophies are now know, the molecular mechanisms resulting in the devastating effects of the disease are not yet clear. Furthermore, the muscular dystrophies differ in clinical presentation and severity. The processes responsible for this di¬vergence are largely unknown as well. In this thesis, gene e...

  7. Muscular Imbalance Correction in the Power Fitness Training

    Directory of Open Access Journals (Sweden)

    Olga E. Aftimichuk

    2013-09-01

    Full Text Available Muscular imbalance is one of the manifestations of pathological-biomechanical changes in muscular-skeletal system. It is the result of tonus-power imbalance of short and relaxed muscles. Muscle shortening is the most striking sign of muscular imbalance. Hypodynamia and passive lifestyle can cause such results. The paper justifies the experimental technique of women muscular imbalances correction by means of power training. Selection of exercises, weights and machines was made, taking into account the anatomical and physiological characteristics of the body of women of second maturity. The indexes, obtained as a result of fitness programs testing, developed within the frameworks of correctional methods.

  8. Distrofia muscular de Emery-Dreifuss: relato de caso

    OpenAIRE

    2006-01-01

    A distrofia muscular de Emery-Dreifuss é uma forma de distrofia muscular freqüentemente associada a contraturas articulares e defeitos de condução cardíaca, que pode ser causada pela deficiência da proteína emerina na membrana nuclear interna das fibras musculares. Descrevemos o caso de um homem de 19 anos com diminuição de força muscular, hipotrofia nas cinturas escapular e pélvica, disfagia, contraturas articulares em cotovelos e tornozelos, apresentando história familiar compatível com her...

  9. Lesión de la médula espinal: actualización bibliográfica: fisiopatología y tratamiento inicial Lesão de medula espinal: atualização da literatura: fisiopatologia e tratamento inicial Spinal cord injury: literature update: physiopathology and initial treatment

    Directory of Open Access Journals (Sweden)

    Vicente Ballesteros Plaza

    2012-01-01

    Full Text Available La fisiopatología del trauma raquimedular (TRM es compleja y aún no se conoce completamente. La lesión al cordón espinal está determinada por procesos primarios y secundarios. La lesión primaria se debe a la transmisión de energía mecánica a la médula y las estructuras neurales durante el evento traumático. La lesión secundaria, que compromete estructuras que habían permanecido indemnes después del trauma inicial, desencadena alteraciones en: la perfusión microvascular, la liberación de radicales libres y de neurotransmisores, la peroxidación lipídica, la concentración iónica y la consecuente muerte celular tanto por necrosis como por apoptosis. La investigación en el tratamiento del TRM, basada en el conocimiento actual de estos mecanismos de lesión, ha buscado el desarrollo de intervenciones terapéuticas tempranas que atenúen el efecto de estos mecanismos fisiopatológicos secundarios, tanto en el sitio del accidente, como después del ingreso a un centro de trauma. Dentro de la intervención farmacológica se ha descrito, por su teórico efecto protector en el pronóstico neurológico de los pacientes con TRM, el uso de metil-prednisolona, gangliósidos y medicamentos antagonistas de los opiáceos, del receptor de glutamato y de los canales iónicos. Sin embargo, aún no se ha identificado ninguna intervención que modifique este pronóstico en forma significativa.A fisiopatologia da lesão de medula espinal (LME é complexa e não está completamente esclarecida. A LME é determinada por processos primários e secundários. A lesão inicial é produzida pela transmissão de energia mecânica para a medula espinal e as estruturas neurais. A lesão secundária atua sobre as estruturas que são poupadas pelo trauma inicial, afetando a perfusão microvascular e as concentrações iônicas, desencadeando a liberação de radicais livres e neurotransmissores e ativando a peroxidação lipídica, o que produz a morte celular

  10. Avaliação da microcirculação das bordas do tendão do supra-espinal nas lesões do manguito rotador Microvascular evaluation of the supraspinatus tendon borders in rotator cuff lesions

    Directory of Open Access Journals (Sweden)

    Roberto Yukio Ikemoto

    2007-12-01

    Full Text Available OBJETIVOS: Avaliar a microcirculação das bordas do tendão supra-espinal nas lesões do manguito rotador com a finalidade de determinar a necessidade ou não do desbridamento de suas bordas no momento do seu reparo cirúrgico. MÉTODOS: No período de junho a dezembro de 2004, foram avaliadas amostras recolhidas de 31 pacientes portadores de lesão completa do tendão supra-espinal, submetidos ao tratamento da lesão do manguito rotador por via artroscópica. Apresentavam idade entre 42 e 82 anos (média de 56,6 anos, sendo nove do sexo masculino e 22 do feminino. Durante a realização do procedimento, foram retiradas amostras de tecido da lesão do manguito rotador e enviadas para estudo anatomopatológico com coloração com hematoxilina-eosina. Após esse processo, foi realizada a contagem das fendas vasculares/mm². Utilizaram-se como grupo controle 10 amostras de tendões normais do supra-espinal de cadáveres frescos, submetidos aos mesmos processos anteriores. Os resultados obtidos foram avaliados estatisticamente através da aplicação do teste de Mann-Whitney. RESULTADOS: Entre as amostras, 28 apresentaram tecidos vascularizados e três, ausência de vascularização. O número médio de fendas vasculares/mm² nas amostras de lesões do manguito rotador foi estatisticamente maior que o do grupo controle. CONCLUSÃO: A maioria das bordas das lesões dos tendões do supra-espinal é hipervascularizada.OBJECTIVES: To evaluate microvasculature in the borders of the supraspinatus tendon in rotator cuff lesions in order to determine the need to debrid the borders when surgical repair is performed. METHODS: From June to December 224, samples were evaluated from 31 patients with full lesion of the supraspinatus tendon that had been submitted to arthroscopic rotator cuff lesion treatment. They were between 42 and 82 years of age (mean 56.6 years, nine of them male, and twenty-two female. During the procedure, samples of the rotator cuff

  11. Diagnóstico de alterações neurológicas compressivas da medula espinal de cães com o uso da Tomografia Computadorizada (TC) Helicoidal

    OpenAIRE

    2014-01-01

    Alterações neurológicas em cães são comuns na rotina da clínica médica, sendo necessário identificar o sítio de lesão quando da ocorrência de neuropatias por compressão em estruturas do Sistema Nervoso Central (SNC). O objetivo deste trabalho foi realizar um estudo epidemiológico das alterações neurológicas compressivas em medula espinal de cães domiciliados em Salvador e região metropolitana: Discopatias, Neoplasias e Traumas identificadas através da Tomografia Computadorizada (TC). Foram av...

  12. A influência da mobilização articular nas tendinopatias dos músculos bíceps braquial e supra-espinal The influence of joint mobilization on tendinopathy of the biceps brachii and supraspinatus muscles

    OpenAIRE

    RI Barbosa; GOES, R; Mazzer,N; MCR Fonseca

    2008-01-01

    As causas mais comuns de dor no ombro estão relacionadas às degenerações dos tendões da musculatura do manguito rotador. OBJETIVO: Verificar a influência da mobilização articular por meio dos movimentos acessórios do ombro na recuperação inicial de 14 pacientes com tendinopatia crônica dos mm. supra-espinal e/ou bíceps braquial. MÉTODOS: Foram comparados dois protocolos de tratamento, compostos da aplicação de ultra-som terapêutico na área do tendão afetado e de treinamento excêntrico na musc...

  13. Nose muscular dynamics: the tip trigonum.

    Science.gov (United States)

    Figallo, E E; Acosta, J A

    2001-10-01

    In 1995, the senior author (E.E.F.) published an article in which he described the musculus digastricus septi nasi labialis. In the article presented here, work carried out by anatomists and other researchers who, over the last two centuries, studied nose muscular dynamics is described. The present study is based on Gray's Anatomy, which, in 1858, first described the nasal tip muscles, along with the other nasal muscles. Later works not only used different terminology for these muscles but also ignored some, creating tremendous confusion. The study presented here provides an update of the exact terms, location, insertions, and muscle functions of the muscles of the nose. Each nose muscle is described with regard to the two portions able to produce separate contractions. In this study, the term "dual function" is used and characterizes the nasal mimetic muscles that do not have well-defined fascia. Therefore, there is doubt about the existence of a real nasal superficial muscle aponeurotic system. The musculus myrtiformis seems to have a dual function, inserting in the canine fosse and in the periosteum of the central incisors, forming two portions-one to the septum and the other to the nostril-each of which has specific functions. This study has been based on research in physiognomy, the science of expression. With regard to the basis for nose expressions, common anatomical research is excluded because it provides a different view of the dynamics studied to date. The term trigonum musculare apicis nasi defines the interaction of the musculi compressor narium minor and dilator naris anterior, connecting with the columellar bundle of the musculus digastricus and levering the nasal spine. This muscular trigone creates circular concentric and eccentric movements of the nasal tip.

  14. Muscular anatomy of the Podocoryna carnea hydrorhiza.

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    Leo W Buss

    Full Text Available The muscular anatomy of the athecate hydroid Podocoryna carnea hydrorhiza is elucidated. The polyp-stolon junction is characterized by an opening, here called the chloe, in the otherwise continuous hydrorhizal perisarc. The chloe is elliptical when the polyp first arises, but takes on a more complex outline as multiple stolons anastomose to communicate with that polyp. Surrounding the polyp base are spots, here called anchors, which autofluoresce at the same wavelengths as perisarc and which, like perisarc, contain chitin as assessed by Calcofluor White, Congo Red and wheat germ agglutinin staining. Anchors remain after living tissues are digested using KOH. Collagen IV staining indicates that the mesoglea is pegged to the anchors and rhodamine phallodin staining detects cytoskeletal F-actin fibers of the basal epidermis surrounding the anchors. Longitudinal muscle fibers of the polyp broaden at the polyp base and are inserted into the mesoglea of the underlying stolon, but were neither observed to extend along the stolonal axis nor to attach to the anchors. Circular muscular fibers of the polyp extend into stolons as a dense collection of strands running along the proximal-distal axis of the stolon. These gastrodermal axial muscular fibers extend to the stolon tip. Epidermal cells at the stolon tip and the polyp bud display a regular apical latticework of F-actin staining. A similar meshwork of F-actin staining was found in the extreme basal epidermis of all stolons. Immunohistochemical staining for tubulin revealed nerves at stolon tips, but at no other hydrorhizal locations. These studies bear on the mechanisms by which the stolon tip and polyp bud pulsate, the manner in which the stolon lumen closes, and on the developmental origin of the basal epidermis of the hydrorhiza.

  15. Muscular cysticercosis: Case report and imaging findings

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    Neide Regina Simões Olmo

    Full Text Available Summary Cysticercosis is a parasitic disease caused by a worm of the Cestoda class. The most prevalent form affects the nervous system. This case report is from a 78-year-old female patient evaluated at Clínica Mult Imagem, in the city of Santos, Brazil, who presented a form of the disease that differed from the classic neurocysticercosis, in this case muscular cysticercosis. This and other forms of manifestation justify further studies to ensure adequate recognition, diagnosis and treatment of this parasitic disease.

  16. Resveratrol ameliorates muscular pathology in the dystrophic mdx mouse, a model for Duchenne muscular dystrophy.

    Science.gov (United States)

    Hori, Yusuke S; Kuno, Atsushi; Hosoda, Ryusuke; Tanno, Masaya; Miura, Tetsuji; Shimamoto, Kazuaki; Horio, Yoshiyuki

    2011-09-01

    Muscular dystrophies are inherited myogenic disorders accompanied by progressive skeletal muscle weakness and degeneration. We previously showed that resveratrol (3,5,4'-trihydroxy-trans-stilbene), an antioxidant and activator of the NAD(+)-dependent protein deacetylase SIRT1, delays the progression of heart failure and prolongs the lifespan of δ-sarcoglycan-deficient hamsters. Because a defect of dystroglycan complex causes muscular dystrophies, and δ-sarcoglycan is a component of this complex, we hypothesized that resveratrol might be a new therapeutic tool for muscular dystrophies. Here, we examined resveratrol's effect in mdx mice, an animal model of Duchenne muscular dystrophy. mdx mice that received resveratrol in the diet for 32 weeks (4 g/kg diet) showed significantly less muscle mass loss and nonmuscle interstitial tissue in the biceps femoris compared with mdx mice fed a control diet. In the muscles of these mice, resveratrol significantly decreased oxidative damage shown by the immunostaining of nitrotyrosine and 8-hydroxy-2'-deoxyguanosine and suppressed the up-regulation of NADPH oxidase subunits Nox4, Duox1, and p47(phox). Resveratrol also reduced the number of α-smooth muscle actin (α-SMA)(+) myofibroblast cells and endomysial fibrosis in the biceps femoris, although the infiltration of CD45(+) inflammatory cells and increase in transforming growth factor-β1 (TGF-β1) were still observed. In C2C12 myoblast cells, resveratrol pretreatment suppressed the TGF-β1-induced increase in reactive oxygen species, fibronectin production, and expression of α-SMA, and SIRT1 knockdown blocked these inhibitory effects. SIRT1 small interfering RNA also increased the expression of Nox4, p47(phox), and α-SMA in C2C12 cells. Taken together, these findings indicate that SIRT1 activation may be a useful strategy for treating muscular dystrophies.

  17. Relaci??n entre la masa muscular, la densidad mineral ??sea, la fuerza muscular, la aptitud funcional y la calidad muscular en personas mayores

    OpenAIRE

    Pati??o Villada, Fredy Alonso

    2015-01-01

    294 p. La tesis pretende determinar la frecuencia de la sarcopenia y osteporosis , problemas que afectan a la salud de las personas mayores, y analizar la relaci??n entre la masa muscular, la densidad mineral ??sea (DMO), la fuerza muscular, la aptitud funcional y la calidad muscular (CM). La muestra estudiada fue la formada por un grupo de 83 hombres y 175 mujeres mayores de Le??n (Espa??a). El estudio transversal eval??a ??ndices de masa grasa y densidad mineral ??sea y niveles d...

  18. Contribución del soporte nutricional al tratamiento de las alteraciones neuro-musculares del paciente crítico Contribution of nutritional support to treatment neuromuscular impairments of critically ill patients

    Directory of Open Access Journals (Sweden)

    J. C. Montejo González

    2006-05-01

    Full Text Available Las alteraciones neuromusculares que tienen lugar en el paciente crítico han sido atribuidas a factores como la situación séptica, la liberación de mediadores inflamatorioso el empleo de fármacos que afectan desfavorablemente a la función neuro-muscular. El papel de factores metabólicos y nutricionales en el desarrollo de esta patología ha recibido poca atención. En la actualidad, el empleo de protocolos de control intensivo de la glucemia podría tener gran interés en la prevención de las alteraciones neuro-musculares de los pacientes críticos. Los mecanismos exactos de la implicación de la hiperglucemia en esta patología son, todavía, desconocidos, aunque la evidencia de los datos procedentes de la investigación es importante. La miopatía caquectizante (atrofia muscular tiene lugar de manera habitual como consecuencia de los cambios obligados por la respuesta metabólica al estrés. El efecto del aporte de nutrientes sobre la ganancia de masa muscular es muy limitado, por lo que deben estudiarse otras acciones dirigidas a recuperar, de manera más rápida, la masa muscular perdida. Deben evitarse pautas agresivas de renutrición con objeto de prevenir el síndrome de realimentación y el consiguiente mayor deterioro de la función muscular. El aporte de substratos específicos, como la glutamina, podría tener un efecto beneficioso en la recuperación de las alteraciones neuro-musculares del paciente crítico. No obstante, no existen aún datos para justificar su empleo si el único objetivo es la recuperación de la función neuro-muscular.Neuromuscular impairments occurring in the critically ill patient have been attributed to factors such as sepsis, release of inflammatory mediators, or the use of drugs unfavorably affecting neuromuscular function. The role of metabolic and nutritional factors in the development of this condition has received little attention. Currently, the use of protocols of intensive glycemia monitoring

  19. Evolution of an alumina-magnesia/self-forming spinel castable. Part I: Microstructural features Evolução de um refratário de espinélio auto-formado de alumina-magnésia. Parte I: Aspectos microestruturais

    Directory of Open Access Journals (Sweden)

    D. Gutiérrez-Campos

    1999-06-01

    Full Text Available Refractories containing magnesium aluminate spinel (MgAl2O4 are materials for emerging technology in several applications like cement and steelmaking processes. In order to deep the understanding of these castables, this work presents the microstructural characteristics of an alumina-magnesia/self-forming spinel castable. Several variables such as MgO content, firing temperature and spinel formation are analyzed through XRD and SEM analysis. The results showed that the processes of spinel formation and nucleation are not strongly affected by the MgO content, but that the crystal growth is enhanced for samples with 6.0 wt% MgO. Hibonite (CA6 bonding in the castable matrix showed a needlelike structure that could increase hot properties of the material. MgO content in the castable seems to affect the hibonite development. The development of a self-forming spinel castable without any synthetic spinel grains appears to be promissory for optimum refractory linings.Refratários contendo espinélio de aluminato de magnésio (MgAl2O4 são materiais para tecnologia emergentes em várias aplicações tais como cimento e processos siderúrgicos. Com a finalidade de melhorar o entendimento destes refratários, este trabalho apresenta as características microestruturais de um refratário espinélio auto-formado de alumina-magnésia. Várias variáveis tais como teor de MgO, temperatura de queima e formação de espinélio são analisadas por meio de difração de raios X e microscopia eletrônica de varredura. Os resultados mostram que os processos de formação de espinélio e de nucleação não são fortemente influenciados pelo teor de MgO, mas que o crescimento de cristal é aumentado para amostras com 6.0% em peso de MgO. A ligação hibonita (CA6 na matriz do refratário mostrou uma estrutura tipo agulha que poderia melhorar as propriedades a quente do material. O teor de MgO no refratário parece influenciar o desenvolvimento da hibonita. O

  20. Molecular mechanisms in muscular dystrophy : a gene expression profiling study.

    NARCIS (Netherlands)

    Turk, Rolf

    2006-01-01

    The muscular dystrophies are a group of neuromuscular disorders characterized by progres¬sive muscle weakness and wasting. Although the underlying genetic defects of a large number of muscular dystrophies are now know, the molecular mechanisms resulting in the devastating effects of the disease are

  1. Contingent muscular tension during a choice reaction task.

    Science.gov (United States)

    Araki, Masanobu; Choshi, Koji

    2006-06-01

    This study examined the effects of contingent muscular tension on a choice reaction task, and especially, the effects various amounts of muscular tension have on the information processing of choice reaction time. The reactive movement task included a choice reaction task. Ten right-handed healthy men (ages 18 to 19 years) underwent trials with stimulus presentation probabilities of 50% and 20% on the muscular tension task and choice reaction tasks. The conditions for the muscular tension tasks were divided into seven different conditions: 0%, 10%, 20%, 30%, 40%, 50%, and 60% of maximum voluntary contraction. On these tasks, subjects performed isometric contraction of the biceps brachii. The choice reaction task was a rapid extension of the left or right knee as a choice reaction. Measures were choice reaction time, movement time, and total reaction time. Analysis indicated that shortening choice reaction time of the left and right feet was observed under 10% muscular tension of maximum strength. Muscular tension appreciably influenced information processing, including choice reaction time. Muscular tension did not affect movement time. Results are discussed with respect to previous research and the optimal muscular tension for best performance.

  2. Morphologic imaging in muscular dystrophies and inflammatory myopathies

    Energy Technology Data Exchange (ETDEWEB)

    Degardin, Adrian; Lacour, Arnaud; Vermersch, Patrick [CHU de Lille, Clinique neurologique, Lille (France); Morillon, David; Cotten, Anne [CHRU de Lille, Service de Radiologie Osteoarticulaire, Hopital Roger Salengro, Lille (France); Stojkovic, Tanya [G-H Pitie-Salpetriere, Institut de Myologie, Paris (France)

    2010-12-15

    To determine if magnetic resonance imaging (MR imaging) is useful in the diagnostic workup of muscular dystrophies and idiopathic inflammatory myopathies for describing the topography of muscle involvement. MR imaging was performed in 31 patients: 8 with dystrophic myotony types 1 (n = 4) or 2 (n = 4); 11 with limb-girdle muscular dystrophy, including dysferlinopathy, calpainopathy, sarcoglycanopathy, and dystrophy associated with fukutin-related protein mutation; 3 with Becker muscular dystrophy; and 9 with idiopathic inflammatory myopathies, including polymyositis, dermatomyositis, and sporadic inclusion body myositis. Analysis of T1 images enabled us to describe the most affected muscles and the muscles usually spared for each muscular disease. In particular, examination of pelvis, thigh, and leg muscles demonstrated significant differences between the muscular diseases. On STIR images, hyperintensities were present in 62% of our patients with muscular dystrophies. A specific pattern of muscular involvement was established for each muscular disease. Hyperintensities observed on STIR images precede fatty degeneration and are not specific for inflammatory myopathies. (orig.)

  3. Dysphagia in Duchenne Muscular Dystrophy Assessed by Validated Questionnaire

    Science.gov (United States)

    Archer, Sally K.; Garrod, Rachel; Hart, Nicholas; Miller, Simon

    2013-01-01

    Background: Duchenne muscular dystrophy (DMD) leads to progressive muscular weakness and death, most typically from respiratory complications. Dysphagia is common in DMD; however, the most appropriate swallowing assessments have not been universally agreed and the symptoms of dysphagia remain under-reported. Aims: To investigate symptoms of…

  4. Sleep disordered breathing in facioscapulohumeral muscular dystrophy.

    Science.gov (United States)

    Della Marca, Giacomo; Frusciante, Roberto; Dittoni, Serena; Vollono, Catello; Buccarella, Cristina; Iannaccone, Elisabetta; Rossi, Monica; Scarano, Emanuele; Pirronti, Tommaso; Cianfoni, Alessandro; Mazza, Salvatore; Tonali, Pietro A; Ricci, Enzo

    2009-10-15

    Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent forms of muscular dystrophy. The aims of this study were: 1) to evaluate the prevalence of sleep disordered breathing (SDB) in patients with FSHD; 2) to define the sleep-related respiratory patterns in FSHD patients with SDB; and 3) to find the clinical predictors of SDB. Fifty-one consecutive FSHD patients were enrolled, 23 women, mean age 45.7+/-12.3 years (range: 26-72). The diagnosis of FSHD was confirmed by genetic tests. All patients underwent medical and neurological evaluations, subjective evaluation of sleep and full-night laboratory-based polysomnography. Twenty patients presented SDB: 13 presented obstructive apneas, four presented REM related oxygen desaturations and three showed a mixed pattern. Three patients needed positive airways pressure. SDB was not related to the severity of the disease. Body mass index, neck circumference and daytime sleepiness did not allow prediction of SDB. In conclusion, the results suggest a high prevalence of SDB in patients with FSHD. The presence of SDB does not depend on the clinical severity of the disease. SDB is often asymptomatic, and no clinical or physical measure can reliably predict its occurrence. A screening of SDB should be included in the clinical assessment of FSHD.

  5. Wnt7a treatment ameliorates muscular dystrophy.

    Science.gov (United States)

    von Maltzahn, Julia; Renaud, Jean-Marc; Parise, Gianni; Rudnicki, Michael A

    2012-12-11

    Duchenne muscular dystrophy (DMD) is a devastating genetic muscular disorder of childhood marked by progressive debilitating muscle weakness and wasting, and ultimately death in the second or third decade of life. Wnt7a signaling through its receptor Fzd7 accelerates and augments regeneration by stimulating satellite stem cell expansion through the planar cell polarity pathway, as well as myofiber hypertrophy through the AKT/mammalian target of rapamycin (mTOR) anabolic pathway. We investigated the therapeutic potential of the secreted factor Wnt7a for focal treatment of dystrophic DMD muscles using the mdx mouse model, and found that Wnt7a treatment efficiently induced satellite cell expansion and myofiber hypertrophy in treated mucles in mdx mice. Importantly, Wnt7a treatment resulted in a significant increase in muscle strength, as determined by generation of specific force. Furthermore, Wnt7a reduced the level of contractile damage, likely by inducing a shift in fiber type toward slow-twitch. Finally, we found that Wnt7a similarly induced myotube hypertrophy and a shift in fiber type toward slow-twitch in human primary myotubes. Taken together, our findings suggest that Wnt7a is a promising candidate for development as an ameliorative treatment for DMD.

  6. Muscle MRI findings in facioscapulohumeral muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Gerevini, Simonetta; Caliendo, Giandomenico; Falini, Andrea [IRCCS San Raffaele Scientific Institute, Neuroradiology Unit, Head and Neck Department, Milan (Italy); Scarlato, Marina; Previtali, Stefano Carlo [IRCCS San Raffaele Scientific Institute, Department of Neurology, INSPE and Division of Neuroscience, Milan (Italy); Maggi, Lorenzo; Pasanisi, Barbara; Morandi, Lucia [Fondazione IRCCS Istituto Neurologico ' ' Carlo Besta' ' , Neuromuscular Diseases and Neuroimmunology Unit, Milan (Italy); Cava, Mariangela [IRCCS San Raffaele Scientific Institute, Department of Radiology and Center for Experimental Imaging, Milan (Italy)

    2016-03-15

    Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement. Clinical and genetic determination can be difficult, as molecular analysis is not always definitive, and other similar muscle disorders may have overlapping clinical manifestations. Whole-body muscle MRI examination for fat infiltration, atrophy and oedema was performed to identify specific patterns of muscle involvement in FSHD patients (30 subjects), and compared to a group of control patients (23) affected by other myopathies (NFSHD). In FSHD patients, we detected a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles. The most frequently affected muscles, including paucisymptomatic and severely affected FSHD patients, were trapezius, teres major and serratus anterior. Moreover, asymmetric muscle involvement was significantly higher in FSHD as compared to NFSHD patients. In conclusion, muscle MRI is very sensitive for identifying a specific pattern of involvement in FSHD patients and in detecting selective muscle involvement of non-clinically testable muscles. Muscle MRI constitutes a reliable tool for differentiating FSHD from other muscular dystrophies to direct diagnostic molecular analysis, as well as to investigate FSHD natural history and follow-up of the disease. (orig.)

  7. Congenital muscular dystrophy with inflammation: Diagnostic considerations

    Directory of Open Access Journals (Sweden)

    Kaumudi Konkay

    2016-01-01

    Full Text Available Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic errors. A series of patients of CMD with significant inflammatory infiltrates on muscle biopsy were correlated with laminin α 2 deficiency on immunohistochemistry (IHC. Material and Methods: Cryostat sections of muscle biopsies from the patients diagnosed as CMD on clinical and muscle biopsy features from 1996 to 2014 were reviewed with hematoxylin and eosin(H&E, enzyme and immunohistochemistry (IHC with laminin α 2. Muscle biopsies with inflammatory infiltrate were correlated with laminin α 2 deficiency. Results: There were 65 patients of CMD, with inflammation on muscle biopsy in 16. IHC with laminin α 2 was available in nine patients, of which six showed complete absence along sarcolemma (five presented with floppy infant syndrome and one with delayed motor milestones and three showed discontinuous, and less intense staining. Conclusions: CMD show variable degrees of inflammation on muscle biopsy. A diagnosis of laminin α 2 deficient CMD should be considered in patients of muscular dystrophy with inflammation, in children with hypotonia/delayed motor milestones.

  8. The superhealing MRL background improves muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Heydemann Ahlke

    2012-12-01

    Full Text Available Abstract Background Mice from the MRL or “superhealing” strain have enhanced repair after acute injury to the skin, cornea, and heart. We now tested an admixture of the MRL genome and found that it altered the course of muscle pathology and cardiac function in a chronic disease model of skeletal and cardiac muscle. Mice lacking γ-sarcoglycan (Sgcg, a dystrophin-associated protein, develop muscular dystrophy and cardiomyopathy similar to their human counterparts with limb girdle muscular dystrophy. With disruption of the dystrophin complex, the muscle plasma membrane becomes leaky and muscles develop increased fibrosis. Methods MRL/MpJ mice were bred with Sgcg mice, and cardiac function was measured. Muscles were assessed for fibrosis and membrane leak using measurements of hydroxyproline and Evans blue dye. Quantitative trait locus mapping was conducted using single nucleotide polymorphisms distinct between the two parental strains. Results Introduction of the MRL genome reduced fibrosis but did not alter membrane leak in skeletal muscle of the Sgcg model. The MRL genome was also associated with improved cardiac function with reversal of depressed fractional shortening and the left ventricular ejection fraction. We conducted a genome-wide analysis of genetic modifiers and found that a region on chromosome 2 was associated with cardiac, diaphragm muscle and abdominal muscle fibrosis. Conclusions These data are consistent with a model where the MRL genome acts in a dominant manner to suppress fibrosis in this chronic disease setting of heart and muscle disease.

  9. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands : a cohort study

    NARCIS (Netherlands)

    Hoogerwaard, EM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; Leschot, NJ; Van Essen, AJ; Brunner, HG; van der Wouw, PA; Wilde, AAM; de Visser, M

    1999-01-01

    Background Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of definit

  10. A lesão do trato de Lissauer e do corno posterior da substância cinzenta da medula espinal e a estimulação elétrica do sistema nervoso central para o tratamento da dor por avulsão de raízes do plexo braquial

    OpenAIRE

    TEIXEIRA MANOEL JACOBSON; SOUZA EVANDRO CÉSAR DE; YENG LIN TCHIA; PEREIRA WALTER CARLOS

    1999-01-01

    Descrevemos os resultados do tratamento operatório de 10 doentes com dor resultante de avulsão de raízes do plexo braquial. Sete foram tratados pela técnica de lesão do trato de Lissauer (TL) e do corno posterior da medula espinal (CPME), 4 pela técnica de estimulação elétrica da medula espinal (EM) e 2 pela técnica de estimulação talâmica (ET). Três doentes foram tratados por ambos os procedimentos. Foi observada melhora imediata em 50% dos doentes com a técnica de estimulação medular e em a...

  11. Avaliação fonoaudiológica na atrofia de múltiplos sistemas: estudo com cinco pacientes Multiple system atrophy speech assessment: study of five cases

    Directory of Open Access Journals (Sweden)

    Denise Botelho Knopp

    2002-09-01

    Full Text Available A atrofia de múltiplos sistemas (AMS é caracterizada pela presença de sinais parkinsonianos, cerebelares, autonômicos e piramidais, em várias combinações. O aparecimento de disartria e disfagia no primeiro ano de manifestação de parkinsonismo, sugere o diagnóstico de AMS. O objetivo deste estudo foi o de caracterizar do ponto de vista fonoaudiológico os distúrbios da fala e da voz dos pacientes com AMS. Foram selecionados cinco pacientes, com idade média de 51,2 anos e com diagnóstico provável de AMS. Cada paciente foi submetido a avaliação neurológica e fonoaudiológica. Esta última foi composta dos seguintes itens: anamnese; avaliação miofuncional e avaliação perceptivo-auditiva da fala. Os sintomas de fala e voz apareceram 1,1 ano após o início dos sintomas motores e a disartrofonia apresentada por todos os pacientes foi a do tipo mista, mesclando os componentes hipocinético, atáxico e espástico, com predomínio do primeiro. Nossos achados são diferentes daqueles comumente vistos em pacientes com a doença de Parkinson, onde o componente hipocinético é o único achado. Os dados levantados indicam que a avaliação fonoaudiológica é importante no diagnóstico diferencial e no planejamento terapêutico da AMS.Multiple system atrophy (MSA is characterized by parkinsonian, cerebellar and pyramidal features along with autonomic dysfunction in different combinations. Onset of dysarthria during the first year of the manifestation of a parkinsonian syndrome suggests the diagnosis of MSA. The aim of this study was to characterize the voice and the speech of patients with MSA. We studied five MSA patients with a mean age of 51.2 years. Each patient was submitted to a neurological and a specific speech and voice assessment. The latter consisted of the following: clinical interview, myofunctional examination, and perceptual speech evaluation. Speech and voice complaints occurred at an average time of 1.1 year after the

  12. Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

    DEFF Research Database (Denmark)

    Sveen, Marie-Louise; Thune, Jens Jakob; Køber, Lars;

    2008-01-01

    of dystrophic changes on muscle biopsy. CONCLUSIONS: This study demonstrates a high prevalence of cardiac involvement in patients with LGMD2I, LGMD2E, and BMD. Patients with LGMD2A, LGMD2D, and unclassified LGMD2 have a much lower and milder prevalence of cardiac involvement.......OBJECTIVE: To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD). DESIGN: Prospective screening. SETTING: Neuromuscular Clinic and Department of Cardiology...... at Rigshospitalet. Patients One hundred one patients with LGMD2A-I and BMD and 29 patients with LGMD2 and no molecular diagnosis. MAIN OUTCOME MEASURES: Clinical investigation, echocardiography, and electrocardiographic findings. RESULTS: Cardiac involvement was present in 24 of 100 patients (24%) with LGMD2A...

  13. Valley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Pradhan Sunil

    2004-04-01

    Full Text Available Valley sign has been described in patients with Duchenne muscular dystrophy (DMD. As there are genetic and clinical similarities between DMD and Becker muscular dystrophy (BMD, this clinical sign is evaluated in this study in BMD and DMD/BMD outliers. To evaluate the sign, 28 patients with Becker muscular dystrophy (BMD, 8 DMD/BMD outliers and 44 age-matched male controls with other neuromuscular diseases were studied. The sign was examined after asking patients to abduct their arms to about 90ºwith hands directed upwards; the muscle bulk over the back of the shoulders was observed. The sign was considered positive if the infraspinatus and deltoid muscles were enlarged and between these two muscles, the muscles forming the posterior axillary fold were wasted as if there were a valley between the two mounts. Twenty-five BMD patients and 7 DMD/BMD outliers had positive valley sign. However, it was less remarkable in comparison to DMD. It was absent in all the 44 controls. It was concluded that the presence of valley sign may help in differentiating BMD from other progressive neuromuscular disorders of that age group.

  14. Oculopharyngeal muscular dystrophy: a polyalanine myopathy.

    Science.gov (United States)

    Brais, Bernard

    2009-01-01

    It has been 10 years since the identification of the first PABPN1 gene (GCN)(n)/polyalanine mutations responsible for oculopharyngeal muscular dystrophy (OPMD). These mutations have been found in most cases of OPMD diagnosed in more than 35 countries. Sequence analyses have shown that such mutations have occurred numerous times in human history. Although PABPN1 was found early on to be a component of the classic filamentous intranuclear inclusions (INIs), mRNA and other proteins also have been found to coaggregate in the INIs. It is still unclear if the INIs play a pathologic or a protective role. The generation of numerous cell and animal models of OPMD has led to greater insight into its complex molecular pathophysiology and identified the first candidate therapeutic molecules. This paper reviews basic and clinical research on OPMD, with special emphasis on recent developments in the understanding of its pathophysiology.

  15. Natural history of Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Qing KE

    2015-05-01

    Full Text Available Duchenne muscular dystrophy (DMD is X-linked recessive hereditary disease. DMD gene mutations result in dystrophin deficiency, which causes not only muscle movement disorders but also scoliosis, cognitive dysfunction, urinary tract diseases, respiratory diseases and heart diseases. Most patients die in early adult for respiratory and circulatory failure. Early multidisciplinary therapies will significantly delay disease progression and improve patients' quality of life. However, DMD diagnosis and treatment exist significantly time delay now. In this study, we review the natural history of DMD, including motor, cognitive, respiratory and heart function, for improving DMD early recognition, diagnosis and treatment, so as to benefit DMD patients. DOI: 10.3969/j.issn.1672-6731.2015.05.004

  16. Neonatal muscular manifestations in mitochondrial disorders.

    Science.gov (United States)

    Tulinius, Már; Oldfors, Anders

    2011-08-01

    During the last decade rapid development has occurred in defining nuclear gene mutations causing mitochondrial disease. Some of these newly defined gene mutations cause neonatal or early infantile onset of disease, often associated with severe progressive encephalomyopathy combined with other multi-organ involvement such as cardiomyopathy or hepatopathy and with early death. Findings suggesting myopathy in neonates are hypotonia, muscle weakness and wasting, and arthrogryposis. We aim to describe the clinical findings of patients with mitochondrial disease presenting with muscular manifestations in the neonatal period or in early infancy and in whom the genetic defect has been characterized. The majority of patients with neonatal onset of mitochondrial disease have mutations in nuclear genes causing dysfunction of the mitochondrial respiratory chain, leading to defective oxidative phosphorylation.

  17. 'Psyching-up' and muscular force production.

    Science.gov (United States)

    Tod, David; Iredale, Fiona; Gill, Nicholas

    2003-01-01

    Psyching-up refers to self-directed cognitive strategies used immediately prior to or during skill execution that are designed to enhance performance. This review focuses on research that has investigated the effect of psyching-up on force production; specifically, strength, muscular endurance and power. Although firm conclusions are not possible, the research tentatively suggests that psyching-up may enhance performance during dynamic tasks requiring strength and/or muscular endurance. However, more research is required. Power has received scant empirical attention and there are not enough data to support any conclusions. Preparatory arousal appears to be the most effective strategy although other strategies like imagery, self-talk and attentional focus also have empirical support. The range of tasks that have been used to measure force production have been limited to movements such as handgrip, leg extension, bench press, sit-ups, press-ups, pull-ups, and the standing broad jump. Additionally, most studies have used undergraduate and/or untrained samples. Only a very small number of studies have examined well-trained individuals. Currently, no explanation for why psyching-up may influence force production has any substantive support. Although a small number of studies have examined moderating and mediating variables, few consistent patterns have emerged and knowledge in this area is somewhat restricted. Given the importance that many athletes place on their mental preparation just prior to performance this is an area that warrants further examination. Research needs to examine a range of complex sport-specific tasks and use well-trained samples. Additionally, research needs to further examine why psyching-up may enhance force production.

  18. Contribution of trunk muscularity on sprint run.

    Science.gov (United States)

    Kubo, T; Hoshikawa, Y; Muramatsu, M; Iida, T; Komori, S; Shibukawa, K; Kanehisa, H

    2011-03-01

    This study aimed to investigate how the trunk muscularity is related to sprint running performance. In 23 youth soccer players, the cross-sectional images at the mid level of each of L1-L2, L2-L3, L3-L4, L4-L5, and L5-S1 were obtained using magnetic resonance imaging to determine the cross-sectional areas (CSAs) of rectus abdominis, oblique, psoas major, quadratus lumborum and erector spinae muscles. The times taken to sprint over 20 m were measured, and the mean velocity of running was calculated for each of the 2 distances (V (10 m) and V (20 m)) and for the distance from 10 m to 20 m (V (10-20 m)). The CSA values of the 5 slice levels for all muscles except for the quadratus lumborum and those of the 3 slice levels (L1-L2, L2-L3 and L3-L4) for the quadratus lumborum were averaged and expressed relative to the two-third power of body mass (CSA/BM (2/3)). The CSA/BM (2/3) values of the erector spinae and quadratus lumborum were selected as significant contributors to predict V (10 m) ( R(2)=0.450), V (20 m) ( R(2)=0.504) and V (10-20 m) ( R(2)=0.420). The current results indicate that the muscularity of the erector spinae and quadratus lumborum contributes to achieving a high performance in sprint running over distances of less than 20 m.

  19. Resistance training in patients with limb-girdle and becker muscular dystrophies

    DEFF Research Database (Denmark)

    Sveen, Marie-Louise; Andersen, Søren P; Ingelsrud, Lina H;

    2013-01-01

    In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD).......In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD)....

  20. Tuina plus Ultrasonic Therapy for Infantile Muscular Torticollis

    Institute of Scientific and Technical Information of China (English)

    Shen Zhi-fang; Luo Kai-tao; Zhu Gao-feng; Jin Yue-qin

    2014-01-01

    Objective:To observe the clinical efficacy of tuina plus ultrasonic therapy in treating infantile muscular torticollis. Methods:Seventy kids with muscular torticollis were intervened by tuina plus ultrasonic therapy, and the efficacy was evaluated after 8-month treatment. Results: After 8-month treatment, 41 subjects were cured, accounting for 58.6%, 27 were improved, occupying 38.6%, 2 failed, occupying 2.8%, and the total effective rate was 97.2%. Conclusion: Tuina plus ultrasonic therapy can produce a significant efficacy in treating infantile muscular torticollis, without adverse effects.

  1. Amiloidose manifestando-se com pseudo-hipertrofia muscular

    OpenAIRE

    Bortoli,Rodrigo; Lima, Isabella Vargas de Souza; Queiroz, Aristides Cheto de; SANTIAGO, Mittermayer Barreto

    2007-01-01

    Amiloidose tipo AL é uma doença rara causada pela deposição extracelular de fragmentos de cadeias leves monoclonais em órgãos e tecidos. Pode apresentar-se com uma ampla variedade de sinais e sintomas, e o acometimento cutâneo-muscular, simulando pseudo-hipertrofia muscular, é um achado muito raro. São descritos dois casos que apresentaram tal manifestação. CASO 1 - Mulher, 61 anos, há quatro meses com história de mialgia e aumento da massa muscular nas cinturas pélvica, escapular e região ce...

  2. Spinal cord injury and male infertility: a review Lesión de la médula espinal e infertilidad masculina: una revision Traumatismo raquimedular e infertilidade masculina: revisão

    Directory of Open Access Journals (Sweden)

    Asdrubal Falavigna

    2012-12-01

    Full Text Available Spinal cord injuries remain an important factor of morbimortality in current society, involving mainly males from adolescence to adulthood. Among the sequelae caused by spinal cord injuries, the impairment of the sexual system is highly relevant since it affects the quality of sexual life and paternity. Infertility is secondary to multiple events such as erectile dysfunction, anejaculation, seminal biochemical modification and morphology of spermatozoa. Current therapies for the infertile spinal cord injured patient focus on the ejaculation stimulus followed by intrauterine insemination, leaving seminal low quality as the major factor of infertility in these patients. In this scenario, therapy with hyperbaric oxygenation, which is still being studied, represents an alternative treatment since it focuses on the central nervous system injured by the trauma and the testicular tissue in order to decrease spinal damage and to preserve the physiological regulation of the urogenital system as a form of avoiding infertility.La lesión de la médula espinal sigue siendo una causa importante de morbilidad y mortalidad en la sociedad actual, que afecta principalmente a hombres en la adolescencia a la edad adulta. Entre las varias secuelas resultantes de lesiones de la médula espinal, el deterioro del sistema sexual es de gran relevancia una vez que afectan la calidad de la vida sexual y la paternidad. La infertilidad es secundaria a varios eventos, tales como la disfunción eréctil, aneyaculación, modificación bioquímica seminal y la morfología de los espermatozoides. Los tratamientos para la infertilidad post-TRM, en general, tienen por objeto estimular la eyaculación seguida de inseminación in vitro, siendo la baja calidad seminal el factor determinante de la infertilidad de estos pacientes. En este escenario, la terapia con oxigenación hiperbárica, aún en estudio, representa un tratamiento alternativo ya que actúa sobre el sistema nervioso

  3. Monossialogangliosídeo transdérmico com laser no tratamento de lesão medular espinal de ratos Transdermal monosialoganglioside with laser in the treatment of spinal cord lesion in rats

    Directory of Open Access Journals (Sweden)

    Fabiano Inácio de Souza

    2013-04-01

    Full Text Available OBJETIVOS: Avaliar os efeitos de monossialogangliosídeos (GM1 administrados com laser por via transdérmica na recuperação da lesão da medula espinal de ratos. MÉTODOS: Quarenta ratos Wistar machos foram submetidos a contusão da medula espinal usando NYU Impactor. No Grupo 1, os ratos receberam 0,2 ml de solução salina diária por via intraperitoneal; no Grupo 2, GM1 foi administrada intraperitonealmente em concentração de 30 mg/kg por dia; no Grupo 3, os ratos foram tratados diariamente com o laser a baixa temperatura sobre a pele, e no Grupo 4, a sessão de laser diária também continha GM1. Todos os grupos foram tratados durante 42 dias. Os animais foram avaliados pela escala funcional de Basso, Baettie e Bresnahan (BBB nos dias 7, 14, 21, 28, 35 e 42 após a lesão, e por histopatologia e potencial motor evocado 42 dias depois da lesão. RESULTADOS: Os animais do Grupo 4 apresentaram escores BBB mais elevados em comparação com os outros grupos. Não houve diferenças entre os grupos ou nas comparações ao longo do tempo. A avaliação histológica não mostrou diferenças, e tampouco foram encontradas diferenças significativas no potencial evocado. CONCLUSÃO: A GM1 associada ao uso de laser a baixa temperatura não mostra resultados superiores no tratamento de lesões da medula espinal de ratos. Nível de Evidência I, Experimental, Estudo Controlado de Animais.OBJECTIVES: to evaluate the effects of monosialoganglioside (gm1 administered transdermally with laser in the recovery of spinal cord injury in rats. METHODS: forty male wistar rats underwent spinal cord contusion using the nyu impactor. in group 1, the rats received 0,2 ml of saline intraperitoneally daily; in group 2, gm1 was administered intraperitoneally at a concentration of 30 mg/kg per day; in group 3, rats were treated daily with laser at low temperature on the skin, and in group 4, the daily laser session also contained gm1. all the groups were treated for 42

  4. Topographic anatomy of the spinal cord and vertebromedullary relationships in Mazama gouazoubira Fisher, 1814 (Artiodactyla; Cervidae = Anatomia topográfica da medula espinal e relações vértebromedulares em Mazama gouazoubira Fisher, 1814 (Artiodactyla; Cervidae

    Directory of Open Access Journals (Sweden)

    Fabiano Campos Lima

    2010-04-01

    Full Text Available To gain an understanding of the detailed anatomical aspects of Mazamagouazoubira (brocket deer, this paper describes the relationships between its spinal cord and the vertebral canal, adding information with a clinical and surgical approach. Three specimens of M. gouazoubira were prepared following the methods normally used inanatomy. The epaxial muscles and vertebral arches were removed to expose the spinal cord and the spinal nerve roots. The dimensions of the medullary segments were measured using a pachymeter with 0.05 mm precision. The spinal cord is cylindroidal, dorsoventrally flattened, with an average craniosacral length of 656.27 mm, and has two dilatations corresponding to the cervical and lumbar intumescences. The cervical, thoracic, lumbar and sacrocaudal segments showed an average length of 175.07, 226.03, 123.47 and 43.63 mm, with indices of 28.02, 35.34, 19.68 and 6.93%, respectively. The medullary cone, whose average length is 46.27 mm, begins between L2 and L3 and ends between S1 and S2, with a mean index of 7.53%. The overall average distance between the nerve roots of the cervical, thoracic and lumbosacral segments was 2.23, 2.06 and 1.98 cm, respectively.Propondo conhecer os aspectos anatômicos pormenorizados de Mazama gouazoubira (veado catingueiro, o presente trabalho descreve as relações entre sua medula espinal e o canal vertebral, adicionando informações com enfoque clínico-cirúrgico. Utilizaram-se três espécimes de M. gouazoubira que foram preparados seguindo métodos usuais em anatomia. Retirou-se a musculatura epiaxial e os arcos vertebrais para a exposição da medula espinal e raízes dos nervos espinais. As dimensões dos segmentos medulares foram obtidas utilizando um paquímetro de precisão 0,05 mm. A medula espinal possui a forma cilindróide, aplanada dorsoventralmente, com comprimento crânio-sacral médio de 656,27 mm, possui duas dilatações correspondentes às intumescências cervical e lombar

  5. Golden Retriever Muscular Dystrophy (GRMD) como modelo morfofuncional da reparação tecidual na Distrofia Muscular de Duchenne

    OpenAIRE

    Thaís Peixoto Gaiad Machado

    2009-01-01

    A fisioterapia motora vem sendo empregada como terapia de suporte para as distrofias musculares, porém, seu efeito no músculo distrófico e na função motora global precisa ser melhor compreendida para direcionar os tratamentos. Esta pesquisa objetiva elucidar o papel da fisioterapia motora na deposição de colágeno muscular, bem como em alguns parâmetros cinemáticos e dinâmicos da marcha do modelo Golden Retriever Muscular Dystrophy (GRMD). Fragmentos do músculo bíceps femoralis foram coletados...

  6. Efeitos do treinamento resistido associado com decanoato de nandrolona sobre a expressão gênica de moduladores de vias de hipertrofia e atrofia do músculo esquelético

    OpenAIRE

    Uliana Sbeguen Stotzer

    2009-01-01

    O uso de esteróides anabólicos androgênicos (EAA) é disseminado entre atletas e não atletas que desejam melhorar o desempenho ou a aparência física. Os EAA agem sobre as células satélites no músculo esquelético, que são as principais precursoras do músculo esquelético, sendo essenciais tanto para crescimento quanto para reparo muscular. Quando são ativadas, na presença de diversos fatores, incluindo o fator D de diferenciação miogênica (MyoD), elas podem se proliferar e diferenciar-se em...

  7. Low-intensity exercise, vascular occlusion, and muscular adaptations.

    Science.gov (United States)

    Teramoto, Masaru; Golding, Lawrence A

    2006-01-01

    The study investigated the effects of low-intensity exercise on muscular fitness when combined with vascular occlusion. Nineteen college male and female students performed two sets of a 5-min step exercise using a 12-inch bench three times per week for 5 weeks. During the step exercise, blood flow to one leg was restricted (vascular occlusion) with a blood pressure cuff, while the other leg was not occluded. Muscular strength of the occluded leg was significantly increased over the nonoccluded leg (p Muscular endurance and muscle mass were improved after 5 weeks of training (p 0.05). Exercise with vascular occlusion has the potential to be an alternative form of training to promote muscular strength.

  8. Cardiac assessment of patients with late stage Duchenne muscular dystrophy

    NARCIS (Netherlands)

    van Bockel, E. A. P.; Lind, J. S.; Zijlstra, J. G.; Wijkstra, P. J.; Meijer, P. M.; van den Berg, M. P.; Slart, R. H. J. A.; Aarts, L. P. H. J.; Tulleken, J. E.

    2009-01-01

    Background. Duchenne muscular dystrophy (DMD) patients used to die mainly from pulmonary problems. However, as advances in respiratory care increase life expectancy, mortality due to cardiomyopathy rises. Echocardiography remains the standard diagnostic modality for cardiomyopathy in DMD patients, b

  9. Muscular, Skeletal, and Neural Adaptations Following Spinal Cord Injury

    OpenAIRE

    Shields, Richard K.

    2002-01-01

    Spinal cord injury is associated with adaptations to the muscular, skeletal, and spinal systems. Experimental data are lacking regarding the extent to which rehabilitative methods may influence these adaptations. An understanding of the plasticity of the muscular, skeletal, and spinal systems after paralysis may be important as new rehabilitative technologies emerge in the 21st century. Moreover, individuals injured today may become poor candidates for future scientific advancements (cure) if...

  10. The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Babak Soltani

    2011-09-01

    Full Text Available ObjectiveA 4-month-old female with osteogenesis imperfecta (OI type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. Due to severe hypotonia, NCV and EMG were performed, and spinal muscular atrophy (SMA type I was diagnosed.Keywords: Osteogenesis imperfecta; spinal muscular atrophy; hypotonia

  11. The new frontier in muscular dystrophy research: booster genes

    DEFF Research Database (Denmark)

    Engvall, Eva; Wewer, Ulla M

    2003-01-01

    More than 30 different forms of muscular dystrophy (MD) have been molecularly characterized and can be diagnosed, but progress toward treatment has been slow. Gene replacement therapy has met with great difficulty because of the large size of the defective genes and because of difficulties...... of the boosters are better understood, drugs may be developed to provide the boost to muscle. Some of the experiences in models of muscular dystrophy may inspire new approaches in other genetic degenerative diseases as well....

  12. Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial

    Directory of Open Access Journals (Sweden)

    Sylvio Saraiva

    1960-09-01

    Full Text Available The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made (infantile spinal muscular atrophy, amyotonia congenita, congenital acute anterior poliomyelitis, anthro-griposis multiplex, von Gierke's disease, central core disease, chronical polymyositis and dermatomyositis, thyrotoxic myopathy and menopausal dys- trophy. The importance of muscle biopsy in the differential diagnosis is emphasized.

  13. Duchenne muscular dystrophy with associated growth hormone deficiency.

    Science.gov (United States)

    Ghafoor, Tariq; Mahmood, Arshad; Shams, Shahnaz

    2003-12-01

    A patient with Duchenne muscular dystrophy (DMD) and growth hormone (GH) deficiency is described who had no clinical evidence of muscular weakness before initiation of GH replacement therapy. Treatment with human GH resulted in appearance of symptoms of easy fatigability and proximal muscle weakness. Thorough investigations including serum creatinine phosphokinase (CK) levels is recommended in every patient with GH deficiency before starting GH replacement therapy.

  14. Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

    OpenAIRE

    Oriana del Rocío Cruz Guzmán; Ana Laura Chávez García; Maricela Rodríguez-Cruz

    2012-01-01

    Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways. Therefore, its damage may lead to different metabolic disruptions. Two of the most important metabolic alterations in muscular dystrophies may be insulin resistance and obesity. However, only insulin resistance has been demonstrated in myotonic dystrophy. In addition, endocrine di...

  15. Current and emerging treatment strategies for Duchenne muscular dystrophy

    OpenAIRE

    Mah JK

    2016-01-01

    Jean K Mah Department of Pediatrics and Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada Abstract: Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. It is caused by mutations of the DMD gene, leading to progressive muscle weakness, loss of independent ambulation by early teens, and premature death due to cardiorespiratory complications. The diagnosis can usually be made after careful review of the...

  16. Cardiac involvement in Duchenne and Becker muscular dystrophy

    Institute of Scientific and Technical Information of China (English)

    Sophie; Mavrogeni; George; Markousis-Mavrogenis; Antigoni; Papavasiliou; Genovefa; Kolovou

    2015-01-01

    Duchenne and Becker muscular dystrophy(DMD/BMD) are X-linked muscular diseases responsible for over 80% of all muscular dystrophies. Cardiac disease is a common manifestation,not necessarily related to the degree of skeletal myopathy; it may be the predominant manifestation with or without any other evidence of muscular disease. Death is usually due to ventricular dysfunction,heart block or malignant arrhythmias. Not only DMD/BMD patients,but also female carriers may present cardiac involvement. Clinically overt heart failure in dystrophinopathies may be delayed or absent,due to relative physical inactivity. The commonest electrocardiographic findings include conduction defects,arrhythmias(supraventricular or ventricular),hypertrophy and evidence of myocardial necrosis. Echocardiography can assess a marked variability of left ventricular dysfunction,independently of age of onset or mutation groups. Cardiovascular magnetic resonance(CMR) has documented a pattern of epicardial fibrosis in both dystrophinopathies’ patients and carriers that can be observed even if overt muscular disease is absent. Recently,new CMR techniques,such as postcontrast myocardial T1 mapping,have been used in Duchenne muscular dystrophy to detect diffuse myocardial fibrosis. A combined approach using clinical assessment and CMR evaluation may motivate early cardioprotective treatment in both patients and asymptomatic carriers and delay the development of serious cardiac complications.

  17. Para-muscular and trans-muscular approaches to the lumbar inter-vertebral foramen: an anatomical comparison

    OpenAIRE

    2005-01-01

    Foraminal and extra-foraminal disc herniations comprise up to 11.7% of all lumbar disc herniations. Facetectomy, which had been the classic approach, is now recognized as cause of pain and instability after surgery. Otherwise, posterior lateral approaches through a trans-muscular or a para-muscular technique offer no significant damage to key structures for spinal stability. The surgical anatomy of these approaches has already been described, but they were not compared. In order to quantify t...

  18. Aerobic interval exercise with an eccentric contraction induces muscular hypertrophy and augmentation of muscular strength in rats

    OpenAIRE

    Tsumiyama, Wakako; Oki, Sadaaki; Takamiya, Naomi; Umei, Namiko; Shimizu, Michele Eisemann; Ono, Takeya; Otsuka, Akira

    2015-01-01

    [Purpose] The purpose of this study was to examine whether an aerobic interval exercise using an eccentric contraction would result in skeletal muscular hypertrophy and augmentation of muscular strength in rats. [Subjects and Methods] Twenty-one female Wistar rats were used in this study. The rats were randomly divided into three groups. The control group performed no exercise. The aerobic endurance exercise group ran for 90 min. The aerobic interval exercise group ran for a total of 90 minut...

  19. Throwing performance is associated with muscular power.

    Science.gov (United States)

    Bourdin, M; Rambaud, O; Dorel, S; Lacour, J-R; Moyen, B; Rahmani, A

    2010-07-01

    The aim of the present study was to test the hypothesis that performance in throwing events is associated with muscular characteristics of both upper and lower limbs. Thirty-eight male throwers volunteered to participate. Bench press and half squat tests were conducted on a guided barbell. The barbell displacement signal was recorded using a kinematic system. Maximal power, corresponding optimal velocity and force (P(max)S, V(opt)S, F(opt)S and P(max)BP, V(opt)BP, F(opt)BP for half squat and bench press, respectively) were extrapolated from the power-velocity relationship. Lower limb stiffness (K) was determined during maximal hopping. The results demonstrated that P(max)S and P(max)BP were correlated with each thrower's season's best performance (SBP, R=0.54, P<0.01 and R=0.71, P<0.001, respectively). P(max)S expressed relative to body mass was not correlated with SBP. K was significantly correlated with SBP (R=0.66, P<0.001). The relationship between P (max)BP expressed relative to body mass and SBP remained significant ( R=0.54, P<0.001). The results of the study suggest that high strength and stiffness values for lower limbs and strength and velocity characteristics for upper limbs may be associated with athletic throwing performance.

  20. Molecular diagnosis of Duchenne muscular dystrophy.

    Science.gov (United States)

    Nallamilli, Babi Ramesh Reddy; Ankala, Arunkanth; Hegde, Madhuri

    2014-10-01

    Duchenne Muscular Dystrophy (DMD) is an X-linked inherited neuromuscular disorder caused by mutations in the dystrophin gene (DMD; locus Xp21.2). The mutation spectrum of DMD is unique in that 65% of causative mutations are intragenic deletions, with intragenic duplications and point mutations (along with other sequence variants) accounting for 6% to 10% and 30% to 35%, respectively. The strategy for molecular diagnostic testing for DMD involves initial screening for deletions/duplications using microarray-based comparative genomic hybridization (array-CGH) followed by full-sequence analysis of DMD for sequence variants. Recently, next-generation sequencing (NGS)-based targeted gene analysis has become clinically available for detection of point mutations and other sequence variants (small insertions, deletions, and indels). This unit initially discusses the strategic algorithm for establishing a molecular diagnosis of DMD and later provides detailed protocols of current molecular diagnostic methods for DMD, including array-CGH, PCR-based Sanger sequencing, and NGS-based sequencing assay.

  1. Spinal Muscular Atrophy: Current Therapeutic Strategies

    Science.gov (United States)

    Kiselyov, Alex S.; Gurney, Mark E.

    Proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by death of motor neurons in the spinal cord. SMA is caused by deletion and/or mutation of the survival motor neuron gene (SMN1) on chromosome 5q13. There are variable numbers of copies of a second, related gene named SMN2 located in the proximity to SMN1. Both genes encode the same protein (Smn). Loss of SMN1 and incorrect splicing of SMN2 affect cellular levels of Smn triggering death of motor neurons. The severity of SMA is directly related to the normal number of copies of SMN2 carried by the patient. A considerable effort has been dedicated to identifying modalities including both biological and small molecule agents that increase SMN2 promoter activity to upregulate gene transcription and produce increased quantities of full-length Smn protein. This review summarizes recent progress in the area and suggests potential target product profile for an SMA therapeutic.

  2. Optimizing Bone Health in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Jason L. Buckner

    2015-01-01

    Full Text Available Duchenne muscular dystrophy (DMD is an X-linked recessive disorder characterized by progressive muscle weakness, with eventual loss of ambulation and premature death. The approved therapy with corticosteroids improves muscle strength, prolongs ambulation, and maintains pulmonary function. However, the osteoporotic impact of chronic corticosteroid use further impairs the underlying reduced bone mass seen in DMD, leading to increased fragility fractures of long bones and vertebrae. These serious sequelae adversely affect quality of life and can impact survival. The current clinical issues relating to bone health and bone health screening methods in DMD are presented in this review. Diagnostic studies, including biochemical markers of bone turnover and bone mineral density by dual energy X-ray absorptiometry (DXA, as well as spinal imaging using densitometric lateral spinal imaging, and treatment to optimize bone health in patients with DMD are discussed. Treatment with bisphosphonates offers a method to increase bone mass in these children; oral and intravenous bisphosphonates have been used successfully although treatment is typically reserved for children with fractures and/or bone pain with low bone mass by DXA.

  3. Serum Creatinine Level: A Supplemental Index to Distinguish Duchenne Muscular Dystrophy from Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Huili Zhang

    2015-01-01

    Full Text Available Background. To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn level reflects disease severity. Methods. Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. Results. Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r=-0.793 and partial correlation analysis after adjustment for age, height, and weight (r=-0.791; both P<0.01. Serum Crn level was significantly higher in patients with in-frame than out-of-frame mutations (Z=-4.716, P<0.01 and in Becker muscular dystrophy (BMD patients than Duchenne muscular dystrophy (DMD patients at ages 4, 5, 7, and 9 yr (all P<0.0125. After adjusting for age, height, and weight, BMD patients still had a significantly higher serum Crn level than DMD patients (β=7.140, t=6.277, P<0.01. Conclusions. Serum Crn level reflected disease severity and may serve as a supplemental index to distinguish DMD from BMD in clinical practice.

  4. Muscular factors are of importance in tension-type headache.

    Science.gov (United States)

    Jensen, R; Bendtsen, L; Olesen, J

    1998-01-01

    Recent studies have indicated that muscular disorders may be of importance for the development of increased pain sensitivity in patients with chronic tension-type headache. The objective of the present study was to investigate this hypothesis by examining the pain perception in tension-type headache with and without muscular disorders defined as increased tenderness. We examined 28 patients with episodic tension-type headache, 28 patients with chronic tension-type headache, and 30 healthy controls. Pericranial myofascial tenderness was recorded with manual palpation, and pressure pain detection and tolerances in cephalic and extracephalic locations with an electronic pressure algometer. In addition, thermal pain sensitivity and electromyographic activity were recorded. The main result was significantly lower pressure pain detection thresholds and tolerances in all the examined locations in patients with chronic tension-type headache with a muscular disorder compared to those without a muscular disorder. There were no such differences in any of the examined locations when the two subgroups of patients with episodic tension-type headache were compared. Thermal pain sensitivity did not differ between patients with and without a muscular disorder, while electromyographic activity levels were significantly higher in patients with chronic tension-type headache with than in those without a muscular disorder. Our results strongly indicate that prolonged nociceptive stimuli from the pericranial myofascial tissue sensitize the central nervous system and, thereby, lead to an increased general pain sensitivity. Muscular factors may, therefore, be of major importance for the conversion of episodic into chronic tension-type headache. The present study complements the understanding of the important interactions between peripheral and central factors in tension-type headache and may lead to a better prevention and treatment of the most prevalent type of headache.

  5. Spinal and intravenous midazolan anesthetic effects on fentanyl/ ligdocaine regional anesthesia following back minor orthopedic surgery Midazolan por vía espinal o endovenosa como coadyuvante de la anestesia regional con lidocaína/fentanil en pacientes sometidos a procedimientos quirúrgicos lumbares de pequeño porte Midazolan por via espinal ou endovenosa como coadjuvante da anestesia regional com lidocaína/fentanil em pacientes submetidos a procedimentos cirúrgicos lombares de pequeno porte

    Directory of Open Access Journals (Sweden)

    Gabriela Rocha Lauretti

    2010-03-01

    Full Text Available OBJECTIVES: the present study was designed to evaluate the usefulness of intravenous and intrathecal midazolan as an adjunct to intrathecal ligdocaine, with or without intrathecal fentanyl. METHODS: double-blind study, institutional approval and informed consent; 40 patients scheduled for minor lumbar orthopedic surgery were randomly assigned to one of five groups (n=8. Patients were premedicated with a 4 mL final intravenous volume (saline or midazolan. Spinal anaesthesia was administered to a 3 mL final volume - 75 mg of lidocaina plus either 33 mg fentanyl or 500 mg midazolan diluted in saline (0,9% - with the patient in sitting position. The latency time for onset of the block (LT, time to progress to T10 sensory level (TT10, duration of the block (Bl, duration of effective analgesia (An, the subjective degree of intraoperative sedation, level of alertness, concentration level and degree of anxiety were specifically measured. P0,05. Both intrathecal fentanyl and midazolan increased the duration of analgesia (pOBJETIVOS: el presente estudio visa evaluar la utilidad de la administración del benzodiazepínico midazolan por vía venosa o espinal en pacientes sometidos a procedimientos quirúrgicos de pequeño porte sobre anestesia regional con lidocaína y fentanil. MÉTODOS: después de la aprobación del Comité de Ética en Investigación Formal, 40 pacientes fueron evaluados de forma doble-ciego y prospectivo, siendo divididos de forma aleatoria uno de los cinco grupos del estudio (n=8. Los pacientes fueron pre-medicados con midazolan o solución fisiológica (volumen final 4 mL por vía venosa. La anestesia espinal fue administrada con el paciente sentado, utilizándose 75 mg de lidocaína, 33 mg de fentanil o 500 mg de midazolan diluidos en solución fisiológica (0.9%, siendo el volumen final administrado por vía intratecal 3 mL. Fueron evaluados: el tiempo de latencia, el de bloqueo motor, el de analgesia, lo grado de sedación y de

  6. Neuropsychological profile of duchenne muscular dystrophy.

    Science.gov (United States)

    Perumal, Anna Roshini; Rajeswaran, Jamuna; Nalini, Atchayaram

    2015-01-01

    Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder characterized by progressive muscle wasting. DMD is a fatal X-linked recessive disorder with an estimated prevalence of 1 in 3,500 male live births. This disease has long been associated with intellectual impairment. Research has shown that boys with DMD have variable intellectual performance, indicating the presence of specific cognitive deficits. The aim of the study was to use a battery of intelligence, learning, and memory tests to identify a neuropsychological profile in boys with DMD. A total of 22 boys diagnosed with DMD in the age range of 6 to 10 years old were evaluated using the Wechsler Intelligence Scale for Children-Third Edition, Rey's Auditory Verbal Learning Test, and the Memory for Designs Test. The data were interpreted using means, standard deviations, percentages, and percentiles. Normative data were also used for further interpretation. The results showed that boys with DMD had a significantly lower IQ (88.5). Verbal IQ (86.59) was found to be lower than Performance IQ (92.64). There was evidence of impaired performance on the Processing Speed, Freedom From Distractibility, and Verbal Comprehension Indexes. Specific deficits in information processing, complex attention, immediate verbal memory span, verbal working memory, verbal comprehension, vocabulary, visuoconstruction ability, and verbal learning and encoding were observed. However, perceptional organization, general fund of information, abstract reasoning, visual discrimination and acuity, visual learning and memory, and verbal memory were adequate. The neuropsychological findings support the hypothesis that these children have specific cognitive deficits as opposed to a global intellectual deficit.

  7. Recent advances in Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Perkins KJ

    2012-10-01

    Full Text Available Kelly J Perkins,1,2 Kay E Davies21Sir William Dunn School of Pathology, 2MRC Functional Genomics Unit, University of Oxford, Oxford, UKAbstract: Duchenne muscular dystrophy (DMD, an allelic X-linked progressive muscle-wasting disease, is one of the most common single-gene disorders in the developed world. Despite knowledge of the underlying genetic causation and resultant pathophysiology from lack of dystrophin protein at the muscle sarcolemma, clinical intervention is currently restricted to symptom management. In recent years, however, unprecedented advances in strategies devised to correct the primary defect through gene- and cell-based therapeutics hold particular promise for treating dystrophic muscle. Conventional gene replacement and endogenous modification strategies have greatly benefited from continued improvements in encapsidation capacity, transduction efficiency, and systemic delivery. In particular, RNA-based modifying approaches such as exon skipping enable expression of a shorter but functional dystrophin protein and rapid progress toward clinical application. Emerging combined gene- and cell-therapy strategies also illustrate particular promise in enabling ex vivo genetic correction and autologous transplantation to circumvent a number of immune challenges. These approaches are complemented by a vast array of pharmacological approaches, in particular the successful identification of molecules that enable functional replacement or ameliorate secondary DMD pathology. Animal models have been instrumental in providing proof of principle for many of these strategies, leading to several recent trials that have investigated their efficacy in DMD patients. Although none has reached the point of clinical use, rapid improvements in experimental technology and design draw this goal ever closer. Here, we review therapeutic approaches to DMD, with particular emphasis on recent progress in strategic development, preclinical evaluation and

  8. Gastrointestinal manifestations in myotonic muscular dystrophy

    Institute of Scientific and Technical Information of China (English)

    Massimo Bellini; Sonia Biagi; Cristina Stasi; Francesco Costa; Maria Gloria Mumolo; Angelo Ricchiuti; Santino Marchi

    2006-01-01

    Myotonic dystrophy (MD) is characterized by myotonic phenomena and progressive muscular weakness.Involvement of the gastrointestinal tract is frequent and may occur at any level. The clinical manifestations have previously been attributed to motility disorders caused by smooth muscle damage, but histologic evidence of alterations has been scarce and conflicting.A neural factor has also been hypothesized. In the upper digestive tract, dysphagia, heartburn, regurgitation and dyspepsia are the most common complaints, while in the lower tract, abdominal pain, bloating and changes in bowel habits are often reported. Digestive symptoms may be the first sign of dystrophic disease and may precede the musculo-skeletal features. The impairment of gastrointestinal function may be sometimes so gradual that the patients adapt to it with little awareness of symptoms. In such cases routine endoscopic and ultrasonographic evaluations are not sufficient and targeted techniques (electrogastrography, manometry,electromyography, functional ultrasonography,scintigraphy, etc.) are needed. There is a low correlation between the degree of skeletal muscle involvement and the presence and severity of gastrointestinal disturbances whereas a positive correlation with the duration of the skeletal muscle disease has been reported.The drugs recommended for treating the gastrointestinal complaints such as prokinetic, antidyspeptic drugs and laxatives, are mainly aimed at correcting the motility disorders.Gastrointestinal involvement in MD remains a complex and intriguing condition since many important problems are still unsolved. Further studies concentrating on genetic aspects, early diagnostic techniques and the development of new therapeutic strategies are needed to improve our management of the gastrointestinal manifestations of MD.

  9. Muscular activity and its relationship to biomechanics and human performance

    Science.gov (United States)

    Ariel, Gideon

    1994-01-01

    The purpose of this manuscript is to address the issue of muscular activity, human motion, fitness, and exercise. Human activity is reviewed from the historical perspective as well as from the basics of muscular contraction, nervous system controls, mechanics, and biomechanical considerations. In addition, attention has been given to some of the principles involved in developing muscular adaptations through strength development. Brief descriptions and findings from a few studies are included. These experiments were conducted in order to investigate muscular adaptation to various exercise regimens. Different theories of strength development were studied and correlated to daily human movements. All measurement tools used represent state of the art exercise equipment and movement analysis. The information presented here is only a small attempt to understand the effects of exercise and conditioning on Earth with the objective of leading to greater knowledge concerning human responses during spaceflight. What makes life from nonliving objects is movement which is generated and controlled by biochemical substances. In mammals. the controlled activators are skeletal muscles and this muscular action is an integral process composed of mechanical, chemical, and neurological processes resulting in voluntary and involuntary motions. The scope of this discussion is limited to voluntary motion.

  10. Muscular, skeletal, and neural adaptations following spinal cord injury.

    Science.gov (United States)

    Shields, Richard K

    2002-02-01

    Spinal cord injury is associated with adaptations to the muscular, skeletal, and spinal systems. Experimental data are lacking regarding the extent to which rehabilitative methods may influence these adaptations. An understanding of the plasticity of the muscular, skeletal, and spinal systems after paralysis may be important as new rehabilitative technologies emerge in the 21st century. Moreover, individuals injured today may become poor candidates for future scientific advancements (cure) if their neuromusculoskeletal systems are irreversibly impaired. The primary purpose of this paper is to explore the physiological properties of skeletal muscle as a result of spinal cord injury; secondarily, to consider associated changes at the skeletal and spinal levels. Muscular adaptations include a transformation to faster myosin, increased contractile speeds, shift to the right on the torque-frequency curve, increased fatigue, and enhanced doublet potentiation. These muscular adaptations may be prevented in individuals with acute paralysis and partially reversed in individuals with chronic paralysis. Moreover, the muscular changes may be coordinated with motor unit and spinal circuitry adaptations. Concurrently, skeletal adaptations, as measured by bone mineral density, show extensive loss within the first six months after paralysis. The underlying science governing neuromusculoskeletal adaptations after paralysis will help guide professionals as new rehabilitation strategies evolve in the future.

  11. Muscular hydrostat mechanism for lip protrusion in speech

    Science.gov (United States)

    Murano, Emi Z.; Stone, Maureen; Honda, Kiyoshi

    2005-09-01

    The lip is an organ consisting mostly of muscle similar to the tongue. While the tongue is known as a muscular hydrostat, it is unclear whether the lip is also. In this paper the muscular hydrostat issue was explored from the anatomical and functional point of view using high-resolution static MRI (hr-MRI 0.125 mm/pixel) and tagged-cineMRI (t-MRI). A 3-D reconstruction of the lips and its muscles was obtained from hr-MRI during sustained vowels /i/ and /u/. The muscular geometry of the orbicularis oris, mentalis, and depressor labii inferior muscles were superimposed onto the principal strains that depicts compression and expansion of the internal tissue obtained from t-MRI. It is shown that (1) orbicularis oris muscle shape can predict both the borderline of glabrous and hairy skin and the manner in which the lips are protruded; (2) the lips volume is almost identical for both speech tasks; and (3) direction and intensity of compression of orbicularis oris and mentalis muscle bundles imply the role of these muscles in the protrusion appearance. These results indicate that the muscular architecture and volume preserving characteristics of the lips are consistent with a muscular hydrostat. [This work was supported by NIH (USA) and NiCT (Japan).

  12. Congenital segmental spinal muscular atrophy: a case report.

    Science.gov (United States)

    Savaş, Tülin; Erol, Ilknur; Özkale, Yasemin; Saygi, Semra

    2015-03-01

    Spinal muscular atrophies are genetic disorders in which anterior horn cells in the spinal cord and motor nuclei of the brainstem are progressively lost. We present a patient with arthrogryposis due to congenital spinal muscular atrophy predominantly affecting the upper limbs. Spinal muscular atrophies with onset at birth may be a cause of arthrogryposis. Localized forms of neurogenic arthrogryposis have been divided into cervical and caudal forms. Our case is similar to the cases described by Hageman et al (J Neurol Neurosurg Psychiatry 1993;56:365-368): severe symmetric lower motor neuron deficit in the upper extremities at the time of birth, no history of injury to the cervical spinal cord or the brachial plexus during delivery, and severe muscle wasting suggesting chronic denervation in utero. Because there was improvement of our patient's situation, her disease was also possibly nonprogressive and sporadic. To our knowledge, this is the first reported case of a Turkish patient with congenital cervical spinal muscular atrophy. Congenital cervical spinal muscular atrophy affecting predominantly the upper limbs is a relatively rare form of motor neuron disease and should be considered in the differential diagnosis of infants with congenital contractures and severe muscle weakness by wasting mainly confined to the upper limbs.

  13. Differential astroglial responses in the spinal cord of rats submitted to a sciatic nerve double crush treated with local injection of cultured Schwann cell suspension or lesioned spinal cord extract: implications on cell therapy for nerve repair Respostas astrocitárias na medula espinal do rato submetido ao esmagamento duplo do nervo ciático e tratado com injeção local de suspensão de células de Schwann cultivadas ou de extrato de medula espinal lesada: implicações na terapia celular para o reparo do nervo

    Directory of Open Access Journals (Sweden)

    João Gabriel Martins Dallo

    2007-12-01

    ático poder alterar o padrão da ativação astrocitária nos cornos anterior e posterior da medula espinal do rato. MÉTODOS: Suspensão de CS cultivadas ou extrato homogeneizado de medula espinal lesada de rato foram inoculados num reservatório feito a partir de dois esmagamentos aplicados no nervo ciático do rato distantes 0,5mm entre si. Injeção local de salina tamponada serviu como controle. Os ratos foram mortos uma semana após e os astrócitos da medula espinal marcados por método imunohistoquímico e quantificados por análise de imagem. RESULTADOS: No corno anterior da medula, ipsilateral à lesão, ativação astrocitária leve foi vista após as injeções de tampão ou CS, entretanto, ativação celular intensa foi observada nesta região com a inoculação neural do extrato homogeneizado de tecido medular lesado. Adicionalmente, as inoculações de CS e de extrato homogeneizado de tecido medular promoveram forte reação astrocitária no corno dorsal da medula espinal, bilateralmente. CONCLUSÕES: Os astrócitos da medula espinal reagem em função do processo de reparo do nervo lesado, o que pode influenciar o resultado funcional esperado, algo que deve ser considerado durante o planejamento da estratégia neurocirúrgica.

  14. Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair.

    Science.gov (United States)

    Swaggart, Kayleigh A; Demonbreun, Alexis R; Vo, Andy H; Swanson, Kaitlin E; Kim, Ellis Y; Fahrenbach, John P; Holley-Cuthrell, Jenan; Eskin, Ascia; Chen, Zugen; Squire, Kevin; Heydemann, Ahlke; Palmer, Abraham A; Nelson, Stanley F; McNally, Elizabeth M

    2014-04-22

    Many monogenic disorders, including the muscular dystrophies, display phenotypic variability despite the same disease-causing mutation. To identify genetic modifiers of muscular dystrophy and its associated cardiomyopathy, we used quantitative trait locus mapping and whole genome sequencing in a mouse model. This approach uncovered a modifier locus on chromosome 11 associated with sarcolemmal membrane damage and heart mass. Whole genome and RNA sequencing identified Anxa6, encoding annexin A6, as a modifier gene. A synonymous variant in exon 11 creates a cryptic splice donor, resulting in a truncated annexin A6 protein called ANXA6N32. Live cell imaging showed that annexin A6 orchestrates a repair zone and cap at the site of membrane disruption. In contrast, ANXA6N32 dramatically disrupted the annexin A6-rich cap and the associated repair zone, permitting membrane leak. Anxa6 is a modifier of muscular dystrophy and membrane repair after injury.

  15. Recapitulation of Developing Artery Muscularization in Pulmonary Hypertension

    Directory of Open Access Journals (Sweden)

    Abdul Q. Sheikh

    2014-03-01

    Full Text Available Excess smooth muscle accumulation is a key component of many vascular disorders, including atherosclerosis, restenosis, and pulmonary artery hypertension, but the underlying cell biological processes are not well defined. In pulmonary artery hypertension, reduced pulmonary artery compliance is a strong independent predictor of mortality, and pathological distal arteriole muscularization contributes to this reduced compliance. We recently demonstrated that embryonic pulmonary artery wall morphogenesis consists of discrete developmentally regulated steps. In contrast, poor understanding of distal arteriole muscularization in pulmonary artery hypertension severely limits existing therapies that aim to dilate the pulmonary vasculature but have modest clinical benefit and do not prevent hypermuscularization. Here, we show that most pathological distal arteriole smooth muscle cells, but not alveolar myofibroblasts, derive from pre-existing smooth muscle. Furthermore, the program of distal arteriole muscularization encompasses smooth muscle cell dedifferentiation, distal migration, proliferation, and then redifferentiation, thereby recapitulating many facets of arterial wall development.

  16. Evaluation of muscular stabilization ability during a static workout.

    Science.gov (United States)

    Staniszewski, Michał; Urbanik, Czesław; Staniszewski, Tadeusz

    2010-01-01

    The aim of this research was to determine the moving and stabilizing functions of selected groups of muscles during the process of static workout. 15 students of the Academy of Physical Education were tested in non-competitive training. Muscular torques achieved during flexing and extending big limb joints were used as the determinant of force. Comparative analysis of torque values achieved in passive stabilization (with support) and muscular stabilization (without support) in elbow and knee joints was carried out. The value of the force applied to the passively stabilizing element in a given measurement during the flexion of elbow and the extension of knee joint was tested. The results of these tests allowed us to learn the value of muscular torques and - after statistical analysis - the relationship between them in particular functions.

  17. Idiopathic intracranial hypertension in a child with Duchenne muscular dystrophy.

    Science.gov (United States)

    Weig, Spencer G; Zinn, Matthias M; Howard, James F

    2011-12-01

    Duchenne muscular dystrophy is an X-linked, recessively inherited disorder characterized by progressive weakness attributable to the absence of dystrophin expression in muscle. In multiple studies, the chronic administration of corticosteroids slowed the loss of ambulation that develops in mid to late childhood. Corticosteroids, however, frequently produce unacceptable side effects, including Cushingoid appearance and weight gain. Deflazacort, an oxazoline analogue of prednisolone, produces equivalent benefits on muscle with fewer reported Cushingoid side effects. We present a 9-year-old boy with Duchenne muscular dystrophy who developed morbid obesity and subsequent idiopathic intracranial hypertension after 2 years of receiving deflazacort. Although deflazacort is typically thought to produce less obesity than prednisone, severe Cushingoid side effects may occur in some individuals. To our knowledge, this description is the first of idiopathic intracranial hypertension complicating chronic corticosteroid treatment of Duchenne muscular dystrophy.

  18. Effects of yoga practice on muscular endurance in young women.

    Science.gov (United States)

    Shiraishi, Juliana Costa; Bezerra, Lídia Mara Aguiar

    2016-02-01

    The aim of this study was to verify the effects of a systematized yoga practice on muscular endurance in young women. Twenty six women (24 ± 3.5 years old) participated in six weeks of yoga classes, and twenty one women (25 ± 5.1 years old) participated as the control group. The yoga intervention was composed of eighteen sessions, three times per week, at 1 h per session. The muscular endurance of upper limbs (push-up) and abdominal (sit-up) was assessed through the protocol suggested by Gettman (1989) [1] and Golding, Myers and Sinning (1989) [2] to the maximum repetitions performed in 1 min. To verify the significant differences intra groups and between groups a SPANOVA was performed, and the level of significance was p ≤ 0.05. The findings suggest that yoga provides improvement in upper limb and in abdominal muscular endurance.

  19. "The sixth sense": towards a history of muscular sensation.

    Science.gov (United States)

    Smith, Roger

    2011-01-01

    This paper outlines the history of knowledge about the muscular sense and provides a bibliographic resource for further research. A range of different topics, questions and approaches have interrelated throughout this history, and the discussion clarifies this rather than presenting detailed research in any one area. Part I relates the origin of belief in a muscular sense to empiricist accounts of the contribution of the senses to knowledge from Locke, via the iddologues and other authors, to the second half of the nineteenth century. Analysis paid much attention to touch, first in the context of the theory of vision and then in its own right, which led to naming a distinct muscular sense. From 1800 to the present, there was much debate, the main lines of which this paper introduces, about the nature and function of what turned out to be a complex sense. A number of influential psycho-physiologists, notably Alexander Bain and Herbert Spencer, thought this sense the most primitive and primary of all, the origin of knowledge of world, causation and self as an active subject. Part II relates accounts of the muscular sense to the development of nervous physiology and of psychology. In the decades before 1900, the developing separation of philosophy, psychology and physiology as specialised disciplines divided up questions which earlier writers had discussed under the umbrella heading of muscular sensation. The term'kinaesthesia' came in 1880 and 'proprio-ception' in 1906. There was, all the same, a lasting interest in the argument that touch and muscular sensation are intrinsic to the existence of embodied being in the way the other senses are not. In the wider culture--the arts, sport, the psychophysiology of labour and so on--there were many ways in which people expressed appreciation of the importance of what the anatomist Charles Bell had called 'the sixth sense'.

  20. Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy

    DEFF Research Database (Denmark)

    Andersen, Søren P; Sveen, Marie-Louise; Hansen, Regitze S;

    2013-01-01

    We investigated the effect of high-intensity exercise on plasma creatine kinase (CK) in patients with muscular dystrophies.......We investigated the effect of high-intensity exercise on plasma creatine kinase (CK) in patients with muscular dystrophies....

  1. Genetics Home Reference: spinal muscular atrophy with respiratory distress type 1

    Science.gov (United States)

    ... Home Health Conditions SMARD1 spinal muscular atrophy with respiratory distress type 1 Enable Javascript to view the expand/ ... All Close All Description Spinal muscular atrophy with respiratory distress type 1 ( SMARD1 ) is an inherited condition that ...

  2. NIH study shows increased risk for two types of myotonic muscular dystrophy

    Science.gov (United States)

    Adults with a form of muscular dystrophy called myotonic muscular dystrophy (MMD) may be at increased risk of developing cancer, according to a study by investigators at the National Cancer Institute (NCI), part of the National Institutes of Health.

  3. Mecanismo da contração muscular

    Directory of Open Access Journals (Sweden)

    José Antonio Levy

    1960-09-01

    Full Text Available Os autores apresentam uma síntese dos conceitos atuais sôbre o mecanismo da contração muscular. Inicialmente estabelecem o conceito de membrana polarizada e despolarizada. Salientam a importância da substância contrátil (actomiosina e da energia fornecida pelo ácido adenosintrifosfórico. São discutidas também as reações químicas que se processam para a formação dessas substâncias, bem como o papel da mioglobina na contração muscular.

  4. The paradox of muscle hypertrophy in muscular dystrophy.

    Science.gov (United States)

    Kornegay, Joe N; Childers, Martin K; Bogan, Daniel J; Bogan, Janet R; Nghiem, Peter; Wang, Jiahui; Fan, Zheng; Howard, James F; Schatzberg, Scott J; Dow, Jennifer L; Grange, Robert W; Styner, Martin A; Hoffman, Eric P; Wagner, Kathryn R

    2012-02-01

    Mutations in the dystrophin gene cause Duchenne and Becker muscular dystrophy in humans and syndromes in mice, dogs, and cats. Affected humans and dogs have progressive disease that leads primarily to muscle atrophy. Mdx mice progress through an initial phase of muscle hypertrophy followed by atrophy. Cats have persistent muscle hypertrophy. Hypertrophy in humans has been attributed to deposition of fat and connective tissue (pseudohypertrophy). Increased muscle mass (true hypertrophy) has been documented in animal models. Muscle hypertrophy can exaggerate postural instability and joint contractures. Deleterious consequences of muscle hypertrophy should be considered when developing treatments for muscular dystrophy.

  5. Muscle dysmorphia: A quest for the hyper muscular body

    OpenAIRE

    Andréa Pires Azevedo; Alan Carvalho Ferreira; Priscila Pinto Da Silva; Iraquitan de Oliveira Caminha; Clara Monteiro de Freitas

    2012-01-01

    A dismorfia muscular tem sido identificada tanto em homens quanto em mulheres, provocando alterações da perceção da autoimagem e prejuízos socioculturais, e na saúde e bem-estar dos indivíduos. Nesse sentido, o objetivo deste estudo é analisar os aspetos socioculturais, psicológicos e o uso de recursos ergogênicos relacionados à dismorfia muscular, bem como, identificar os riscos promovidos pelo transtorno. Participaram 20 indivíduos, inscritos na rede mundial de computadores. Utilizou-se um ...

  6. Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy

    DEFF Research Database (Denmark)

    Hauerslev, S; Ørngreen, Mette Cathrine; Hertz, Jens Michael;

    2013-01-01

    The aim of this study was to investigate whether inflammation and regeneration are prominent in mildly affected muscles of patients with facioscapulohumeral muscular dystrophy type 1A (FSHD1A). Inflammation in muscle has been suggested by MRI studies in patients with FSHD1A.......The aim of this study was to investigate whether inflammation and regeneration are prominent in mildly affected muscles of patients with facioscapulohumeral muscular dystrophy type 1A (FSHD1A). Inflammation in muscle has been suggested by MRI studies in patients with FSHD1A....

  7. PLASTICIDADE MUSCULAR NO EXERCÍCIO FÍSICO

    OpenAIRE

    Andreo Fernando Aguiar; UNESP, IBB; Danilo Henrique Aguiar; Departamento de Biologia - UEPB/ João Pessoa

    2011-01-01

    O objetivo deste estudo foi elaborar uma revisão dos principais mecanismos celulares e moleculares envolvidos no processo de hipertrofia e modulação fenotípica do músculo esquelético, em resposta ao exercício/treinamento físico. Inicialmente, apresentamos uma visão geral do músculo esquelético, com ênfase nas características gerais das fibras musculares e na plasticidade muscular. Em seguida, descrevemos a morfologia e a participação dos mionúcleos e das células satélites durante a hipertrofi...

  8. Imaging of muscular denervation secondary to motor cranial nerve dysfunction

    Energy Technology Data Exchange (ETDEWEB)

    Connor, S.E.J. [Neuroradiology Department, Kings College Hospital, Denmark Hill, London SE5 9RS (United Kingdom)]. E-mail: sejconnor@tiscali.co.uk; Chaudhary, N. [Neuroradiology Department, Kings College Hospital, Denmark Hill, London SE5 9RS (United Kingdom); Fareedi, S. [Neuroradiology Department, Kings College Hospital, Denmark Hill, London SE5 9RS (United Kingdom); Woo, E.K. [Neuroradiology Department, Kings College Hospital, Denmark Hill, London SE5 9RS (United Kingdom)

    2006-08-15

    The effects of motor cranial nerve dysfunction on the computed tomography (CT) and magnetic resonance imaging (MRI) appearances of head and neck muscles are reviewed. Patterns of denervation changes are described and illustrated for V, VII, X, XI and XII cranial nerves. Recognition of the range of imaging manifestations, including the temporal changes in muscular appearances and associated muscular grafting or compensatory hypertrophy, will avoid misinterpretation as local disease. It will also prompt the radiologist to search for underlying cranial nerve pathology, which may be clinically occult. The relevant cranial nerve motor division anatomy will be described to enable a focussed search for such a structural abnormality.

  9. Abordagens terapêuticas em modelo experimental de distrofia muscular

    OpenAIRE

    Carlos Roberto Bueno Júnior

    2012-01-01

    As distrofias musculares são doenças genéticas causadas por mutações em diferentes genes caracterizadas por degeneração muscular, prejuízos locomotores e, geralmente, morte precoce. Dentre elas, a de Duchenne, causada por mutações no gene que codifica para a proteína distrofina, é a mais comum e grave, tendo os camundongos MDX como modelo experimental mais utilizado. O objetivo do presente estudo foi testar quatro abordagens terapêuticas potencias neste modelo animal, divididas em dois experi...

  10. Congenital muscular dystrophy: case report and review of the literature

    OpenAIRE

    2010-01-01

    Las distrofias musculares congénitas son entidades con herencia autosómica recesiva. Se clasifican en las que comprometen el sistema nervioso central y las que no lo hacen (forma clásica). Este último grupo se subdivide en distrofias sin déficit de merosina y con déficit de merosina.Se reporta el caso de un paciente con hipotonía grave, contracturas articulares y compromiso de la sustancia blanca del sistema nervioso central. Se considera el diagnóstico de distrofia muscular congénita con pos...

  11. Progress study of the cardiac damage in Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    ZHANG Yao

    2013-05-01

    Full Text Available Duchenne muscular dystrophy (DMD is a fatal muscular disease with rapid progression in children. Most patients die of respiratory and circulatory failure before the age of 20 if there is no systematic treatment. Now the heart problem in this disease has become increasingly prominent, and is thought to be closely associated with certain dystrophin exon deletion. We would like to review the epidemiology, relevance of dystrophin, pathogenesis, clinical manifestations and pathological features, as well as early prevention and treatment of DMD.

  12. O retardo mental na distrofia muscular de Duchenne

    OpenAIRE

    Flávia Nardes; Alexandra P.Q.C. Araújo; Márcia Gonçalves Ribeiro

    2012-01-01

    OBJETIVO: Fazer um levantamento da literatura médica destinada ao estudo das disfunções cognitivas nos pacientes com distrofia muscular de Duchenne, através da descrição dos marcos do desenvolvimento neuropsicomotor e dos testes psicométricos para quantificação da inteligência. FONTES DOS DADOS: Revisão não sistemática sobre os aspectos da cognição na distrofia muscular de Duchenne nas principais bases médicas científicas: MEDLINE, LILACS, Biblioteca Cochrane e SciELO. SÍNTESE DOS DADOS: Os p...

  13. Structural deterioration of tendon collagen in genetic muscular dystrophy.

    Science.gov (United States)

    Stinson, R H

    1975-08-19

    The structure of gastrocnemius tendons from chickens with genetically induced muscular dystrophy has been studied by low-angle X-ray diffraction. Compared with normal samples there is poor alignment of collagen within the tendons. This difference is quite pronounced at eight weeks when the affected birds are still in comparatively good physical condition. Similar changes have been reported for birds with nutritionally induced muscular dystrophy (Bartlett, M. W., Egelstaff, P. A., Holden, T. M., Stinson, R. H. and Sweeny, P. R. (1973) Biochim. Biophys. Acta 328, 213-220).

  14. Hematoma subdural de medula espinhal associada ao uso de anticoagulante oral Hematoma subdural de la médula espinal asociado al uso de anticoagulante oral Spine subdural hematoma: a rare complication associated with vitamin K antagonist (VKA

    Directory of Open Access Journals (Sweden)

    Uri Adrian Prync Flato

    2009-01-01

    Full Text Available O hematoma subdural de medula espinhal (HSDME é uma complicação rara decorrente do uso de antagonistas de vitamina K (AVK e de diagnostico difícil. Este artigo apresenta um caso com complicação ameaçadora à vida: um paciente octogenário portador de fibrilação atrial de início recente em uso de AVK. A história e o exame físico inicialmente se apresentavam normais, associados com a elevação dos valores de coagulograma supraterapêuticos (INR > 10. Após 24 horas da admissão hospitalar, o paciente apresentou tetraparesia progressiva, evidenciando na ressonância nuclear magnética (RNM de medula espinhal um HSDME (Figura 1. Após reversão completa da hipocoagulação e intervenção neurocirúrgica o paciente obteve melhora do quadro neurológico.El hematoma subdural espinal (HSE es una complicación rara proveniente del uso de antagonistas de vitamina K (AVK y de diagnostico difícil. Este artículo presenta un caso con complicación amenazadora para la vida: un paciente octogenario portador de fibrilación auricular de inicio reciente, en uso de AVK. Inicialmente, la historia y el examen físico se presentaban normales, asociados a la elevación de los valores de coagulograma supra terapéuticos (INR > 10. Tras 24 horas del ingreso hospitalario, el paciente presentó tetraparesia progresiva. Al realizarse una resonancia nuclear magnética (RNM de médula espinal, se evidenció un HSE (Figura 1. Tras reversión completa de la hipocoagulación e intervención neuroquirúrgica el paciente obtuvo mejora del cuadro neurológico.Spinal subdural hematoma (SSDH is a rare condition, which is difficult to diagnose, related to Vitamin K Antagonist. This a case report of a life-threatening situation in a octogenarian patient with a history of recent atrial fibrillation that received K-Vitamin Antagonist (KVA therapy. The history and the clinical assessment were normal at the admission, associated with increase in the coagulation parameters

  15. Avaliação catalítica dos espinélios ZnAl2O4 e ZnAl1,9Eu0,1O4 na transesterificação metílica do óleo de soja

    Directory of Open Access Journals (Sweden)

    P. T. A. Santos

    2015-03-01

    Full Text Available Este estudo objetivou avaliar o efeito da dopagem de európio na estrutura e na morfologia do espinélio ZnAl1,9Eu0,1O4 e seu desempenho como catalisador na transesterificação metílica do óleo de soja. Os pós do espinélio ZnAl1,9Eu0,1O4 foram sintetizados por meio da reação de combustão e caracterizados por difração de raios X (DRX, espectroscopia de absorção óptica na região do infravermelho com transformada de Fourier (FTIR, microscopia eletrônica de varredura e análise termogravimétrica. As reações de transesterificação foram conduzidas a 160 e 180 ºC, razão molar óleo/álcool 1:15, 2% de catalisador e tempo de reação 3 h. Os resultados das caracterizações por DRX e FTIR indicaram a fase espinélio do aluminato e duas bandas de absorção entre 450 e 700 cm-1, características da estrutura de espinélio. Os resultados das reações de transesterificação mostraram que a dopagem de ZnAl2O4 com 0,1 mol de európio favoreceu um aumento na conversão catalítica de 15,8% para 68,7%, indicando que os íons európio tornam o catalisador mais ativo. Aumentando a temperatura da reação de 120 para 180 ºC promoveu um aumento considerável na conversão catalítica de 18,4 para 68,7%, utilizando o catalisador dopado com európio. A conversão do catalisador reutilizado ZnAl1,9Eu0,1O4 mostrou uma redução em cerca de 31% quando foi utilizado pela terceira vez.

  16. Protocolo del estudio comparación de etilefrina y fenilefrina en la profilaxis y tratamiento de la hipotensión secundaria a anestesia espinal para cesárea segmentaria categoría nice 3-4: estudio aleatorizado, doble ciego, de no inferioridad

    OpenAIRE

    Troncoso Prada, Efrain

    2014-01-01

    Antecedentes: Durante la administración de anestesia espinal en cesárea se observa en un 90% de los casos la presencia de hipotensión arterial, la cual puede generar morbilidad fetal y materna. Como medidas para la prevención y manejo están los vasopresores fenilefrina y efedrina. En Colombia existe mayor disponibilidad de otros vasopresores como la etilefrina, de la cual la evidencia sobre su efectividad y seguridad es pobre. Objetivo: Establecer la no inferioridad de etilefrina, comparad...

  17. Diagnóstico de alterações neurológicas compressivas da medula espinal de cães com o uso da Tomografia Computadorizada (TC Helicoidal

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    Roberto R. Borges-dos-Santos

    2014-06-01

    Full Text Available Alterações neurológicas em cães são comuns na rotina da clínica médica, sendo necessário identificar o sítio de lesão quando da ocorrência de neuropatias por compressão em estruturas do Sistema Nervoso Central (SNC. O objetivo deste trabalho foi realizar um estudo epidemiológico das alterações neurológicas compressivas em medula espinal de cães domiciliados em Salvador e região metropolitana: Discopatias, Neoplasias e Traumas identificadas através da Tomografia Computadorizada (TC. Foram avaliados 17 cães de diversas raças com idade entre 2 e 10 anos e de ambos os sexos, atendidos na rotina de dois serviços médicos-veterinários e encaminhados para realização do exame conforme indicação clínica. Imagens em cortes com espessura variando de 0,5 a 2mm em rotação foram produzidas com o Tomógrafo. Dos animais que apresentaram discopatia 12/17 (70,58%, por mielopatia extradural 6/12 (50 %, foram da raça Dachshund com idade média 7,33±1,97 anos e para todos os outros a ocorrência foi pontual; 23,53 % de osteopatias vertebrais, neoplasias ósseas e fraturas, e 5,89% correspondente a neoplasia de medula. Houve uma maior frequência de lesões nos segmentos C4-C6 3/12 (25%, T12-T13 (25 % e L2-L3 (25 % dos casos.

  18. Manejo de las atrofias del maxilar superior clase V de Cawood y Howell mediante la adopción de la cirugía piezoeléctrica The management of atrophies classified as V class according to Cawood & Howell by piezo-electric surgery

    Directory of Open Access Journals (Sweden)

    F. Carini

    2009-08-01

    Full Text Available Introducción: Los casos analizados presentaban atrofias severas (V clase según Cawood y Howell (1, que se caracterizan por presentar una densidad de la cresta transversal inferior a 4 mm y vertical inferior a 6 mm; ello hace pensar en la posibilidad de una rehabilitación implanto-soportada. Objetivo: Evaluación de la rehabilitación de pacientes afectados por severa atrofia del maxilar superior clase V según Cawood y Howell (1 rehabilitados con elevación del seno maxilar e injerto de hueso autólogo. Materiales y métodos: Estudio longitudinal a partir de una muestra de 32 pacientes, con atrofia maxilar severa y edentulismo parcial o total. En todos los pacientes se ha colocado un injerto con técnica de reconstrucción onlay mono o bicortical y se ha adoptado la cirugía piezoeléctrica para realizar el elevación del seno, el cual podía ser mono o bilateral, de hueso autólogo procedente de la cresta ilíaca anterior. Seguimiento realizado durante 2 años. Resultados: A los dos años del control final, el 94,05% de todos los implantes colocados tras la intervención de elevación se presentan osteointegrados y cargados protésicamente. La cresta ilíaca anterior resulta ser la zona idónea para la extracción medular, necesaria para la elevación del seno. Las posibilidades de supervivencia del implante son realmente elevadas si se espera el tiempo clínico necesario para la recuperación y la integración del injerto. El éxito de todas las intervenciones de elevación del seno maxilar se debe a la adopción de la cirugía piezoeléctrica, que permite efectuar la incisión de entrada y realizar el desprendimiento de los tejidos con un traumatismo mínimo para la membrana de Schneider. La integridad de la membrana y la utilización de bone-chips de origen autólogo no ha hecho necesario recurrir a la utilización de membranas reabsorbibles, simplificando así el procedimiento quirúrgico. La utilización de la cresta ilíaca anterior

  19. LAMA2-related myopathy; frequency among congenital and limb-girdle muscular dystrophies

    DEFF Research Database (Denmark)

    Løkken, Nicoline; Born, Alfred Peter; Duno, Morten;

    2015-01-01

    Introduction: Muscular dystrophy caused by LAMA2-gene mutations is an autosomal recessive disease typically presenting as a severe, early-onset congenital muscular dystrophy (CMD). However, milder cases with a limb-girdle type muscular dystrophy (LGMD) have been described. Methods: In this study...

  20. ALTERACIONES EN LA SEÑALIZACION POR ATP Y DEGENERACION MUSCULAR EN FIBRAS DE UN MODELO DE DISTROFIA MUSCULAR DUCHENNE

    OpenAIRE

    VALLADARES IDE, DENISSE MAYARA

    2013-01-01

    La Distrofia Muscular de Duchenne (DMD) es un trastorno neuromuscular hereditario generado por una mutación en el gen que expresa la proteína distrofina. Esta proteína forma parte de un complejo multiprotéico que acopla el citoesqueleto a la matriz extracelular, garantizando una distribución homogénea del estrés mecánico en la membrana sarcoplasmática durante la actividad muscular. La ausencia de esta proteína se asocia a alteraciones de la señalización intracelular, aumento...

  1. Retinal nerve fiber layer atrophy as relevant feature for diffuse unilateral subacute neuroretinitis (DUSN: case series Atrofia das camadas de fibras nervosas da retina como característica relevante na neurorretinite subaguda difusa unilateral (DUSN: série de casos

    Directory of Open Access Journals (Sweden)

    Antonio Marcelo Barbante Casella

    2010-04-01

    Full Text Available PURPOSE: To report the findings of optical coherence tomography (OCT in three cases of diffuse unilateral subacute neuroretinitis (DUSN. METHODS: Three young patients with confirmed diagnosis of diffuse unilateral subacute neuroretinitis were followed-up using Stratus® OCT. RESULTS: Optical coherence tomography findings included retinal nerve fiber layer atrophy and focal edema where the worm was initially lodged. In two patients we could identify the worm by optical coherence tomography as an area of hiper-reflectivity. The worms were laser photocoagulated and post-treatment optical coherence tomography scanning revealed improvement of edema, nerve fiber layer thinning and a retinal hyper-reflectivity where laser had been applied. CONCLUSION: The main finding reported here is the potential of optical coherence tomography in detecting the presence of retinal nerve fiber layer atrophy and focal retinal edema in areas affected by the worm. Optical coherence tomography can be used to distinguish diffuse unilateral subacute neuroretinitis from other mimicking diseases like punctate outer retinitis, when there are no retinal fiber layer atrophy.OBJETIVO: Demonstrar os achados da tomografia de coerência óptica em três casos de neurorretinite subaguda difusa unilateral (DUSN. MÉTODOS: Os pacientes com diagnóstico confirmado de neurorretinite subaguda difusa unilateral realizaram seguimento pré e pós-tratamento por meio da tomografia de coerência óptica, Stratus® OCT. RESULTADOS: Os achados marcantes da tomografia de coerência óptica foram a atrofia das camadas de fibras nervosas da retina e edema da retina localizado em áreas nas quais a larva esteve. Em dois pacientes pôde-se localizar a larva no espaço sub-retiniano por meio da tomografia de coerência óptica, que se traduziu por pequena área densa (hiperrefletividade. As larvas foram fotocoaguladas a laser e os achados da tomografia de coerência óptica após o tratamento

  2. Estruturas elásticas e fadiga muscular

    Directory of Open Access Journals (Sweden)

    Gláucia Andreza Kronbauer

    2013-06-01

    Full Text Available A fadiga muscular pode ser definida pela incapacidade de manter certa tarefa ao longo do tempo; os mecanismos neuromusculares e metabólicos envolvidos na contração muscular estão diretamente associados a esse fenômeno. Este estudo bibliográfico busca descrever as alterações nos elementos contráteis e elásticos envolvidos na contração muscular e sua relação com o desempenho na locomoção. As estruturas contráteis são aquelas que desenvolvem força ativa com gasto de energia metabólica - mecanismo de pontes cruzadas; as elásticas são aquelas que oferecem resistência mecânica ao alongamento sem custo energético - força passiva - e conservam energia elástica para uma nova contração. Após a análise de ambas, é possível afirmar que a fadiga muscular está associada à função das estruturas contráteis e elásticas.

  3. Modifying muscular dystrophy through transforming growth factor-β.

    Science.gov (United States)

    Ceco, Ermelinda; McNally, Elizabeth M

    2013-09-01

    Muscular dystrophy arises from ongoing muscle degeneration and insufficient regeneration. This imbalance leads to loss of muscle, with replacement by scar or fibrotic tissue, resulting in muscle weakness and, eventually, loss of muscle function. Human muscular dystrophy is characterized by a wide range of disease severity, even when the same genetic mutation is present. This variability implies that other factors, both genetic and environmental, modify the disease outcome. There has been an ongoing effort to define the genetic and molecular bases that influence muscular dystrophy onset and progression. Modifier genes for muscle disease have been identified through both candidate gene approaches and genome-wide surveys. Multiple lines of experimental evidence have now converged on the transforming growth factor-β (TGF-β) pathway as a modifier for muscular dystrophy. TGF-β signaling is upregulated in dystrophic muscle as a result of a destabilized plasma membrane and/or an altered extracellular matrix. Given the important biological role of the TGF-β pathway, and its role beyond muscle homeostasis, we review modifier genes that alter the TGF-β pathway and approaches to modulate TGF-β activity to ameliorate muscle disease.

  4. The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Babak Soltani

    2011-06-01

    Full Text Available ObjectiveA 4-month-old female with osteogenesis imperfecta (OI type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. Due to severe hypotonia, NCV and EMG were performed, and spinal muscular atrophy (SMA type I was diagnosed.

  5. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Hoogerwaard, EM; van der Wouw, PA; Wilde, AAM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; van Essen, AJ; Leschot, NJ; de Visser, M

    1999-01-01

    A cross-sectional study in a cohort of DNA proven carriers of Duchenne (DMD) and Becker (BMD) muscular dystrophy was undertaken with the following objectives: (1) to estimate the frequency of electrocardiographic (ECG) and echocardiographic abnormalities; (2) to establish the proportion of carriers

  6. Dismorfia muscular: A busca pelo corpo hiper musculoso

    Directory of Open Access Journals (Sweden)

    Andréa Pires Azevedo

    2012-03-01

    Full Text Available A dismorfia muscular tem sido identificada tanto em homens quanto em mulheres, provocando alterações da perceção da autoimagem e prejuízos socioculturais, e na saúde e bem-estar dos indivíduos. Nesse sentido, o objetivo deste estudo é analisar os aspetos socioculturais, psicológicos e o uso de recursos ergogênicos relacionados à dismorfia muscular, bem como, identificar os riscos promovidos pelo transtorno. Participaram 20 indivíduos, inscritos na rede mundial de computadores. Utilizou-se um questionário para coleta de dados e a análise documental para interpretação das respostas. Os resultados demonstram que as preocupações com a imagem corporal geram insegurança social, baixa autoestima e sentimentos de inferioridade, que seriam resolvidos se a pessoa tivesse corpos belos e fortes. A dismorfia muscular pode aumentar o risco de uso dos esteroides anabolizantes e o uso indiscriminado de suplementos alimentares. Conclui-se que a dismorfia muscular causa sofrimentos e prejuízos psicológicos, socioculturais e, desse modo, compromete a saúde das pessoas.

  7. The role of stem cells in muscular dystrophies.

    Science.gov (United States)

    Meregalli, Mirella; Farini, Andrea; Colleoni, Federica; Cassinelli, Letizia; Torrente, Yvan

    2012-06-01

    Muscular dystrophies are heterogeneous neuromuscular disorders of inherited origin, including Duchenne muscular dystrophy (DMD). Cell-based therapies were used to promote muscle regeneration with the hope that the host cells repopulated the muscle and improved muscle function and pathology. Stem cells were preferable for therapeutic applications, due to their capacity of self-renewal and differentiative potential. In the last years, encouraging results were obtained with adult stem cells to treat muscular dystrophies. Adult stem cells were found into various tissues of the body and they were able to maintain, generate, and replace terminally differentiated cells within their own specific tissue because of cell turnover or tissue injury. Moreover, it became clear that these cells could participate into regeneration of more than just their resident organ. Here, we described multiple types of muscle and non muscle-derived myogenic stem cells, their characterization and their possible use to treat muscular dystrophies. We also underlined that most promising possibility for the management and therapy of DMD is a combination of different approaches, such as gene and stem cell therapy.

  8. Functional protein networks unifying limb girdle muscular dystrophy

    NARCIS (Netherlands)

    Morrée, Antoine de

    2011-01-01

    Limb Girdle Muscular Dystrophy (LGMD) is a rare progressive heterogeneous disorder that can be caused by mutations in at least 21 different genes. These genes are often widely expressed and encode proteins with highly differing functions. And yet mutations in all of them give rise to a similar clini

  9. Occupational Potential in a Population with Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Schkade, Janette K.; And Others

    1987-01-01

    Twenty-five males with Duchenne muscular dystrophy were tested to assess their potential for occupational activity. Tests measured possible sensory deficits, strength, endurance, and fatigue in response to sustained fine motor activity. Results indicate that, within limitations, persons with this diagnosis can engage in activity leading to skill…

  10. Therapeutic Potential of Immunoproteasome Inhibition in Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Farini, Andrea; Sitzia, Clementina; Cassani, Barbara; Cassinelli, Letizia; Rigoni, Rosita; Colleoni, Federica; Fusco, Nicola; Gatti, Stefano; Bella, Pamela; Villa, Chiara; Napolitano, Filomena; Maiavacca, Rita; Bosari, Silvano; Villa, Anna; Torrente, Yvan

    2016-11-01

    Duchenne muscular dystrophy is an inherited fatal genetic disease characterized by mutations in dystrophin gene, causing membrane fragility leading to myofiber necrosis and inflammatory cell recruitment in dystrophic muscles. The resulting environment enriched in proinflammatory cytokines, like IFN-γ and TNF-α, determines the transformation of myofiber constitutive proteasome into the immunoproteasome, a multisubunit complex involved in the activation of cell-mediate immunity. This event has a fundamental role in producing peptides for antigen presentation by MHC class I, for the immune response and also for cytokine production and T-cell differentiation. Here, we characterized for the first time the presence of T-lymphocytes activated against revertant dystrophin epitopes, in the animal model of Duchenne muscular dystrophy, the mdx mice. Moreover, we specifically blocked i-proteasome subunit LMP7, which was up-regulated in dystrophic skeletal muscles, and we demonstrated the rescue of the dystrophin expression and the amelioration of the dystrophic phenotype. The i-proteasome blocking lowered myofiber MHC class I expression and self-antigen presentation to T cells, thus reducing the specific antidystrophin T cell response, the muscular cell infiltrate, and proinflammatory cytokine production, together with muscle force recovery. We suggest that i-proteasome inhibition should be considered as new promising therapeutic approach for Duchenne muscular dystrophy pathology.

  11. Skeletal muscle training for spinal muscular atrophy type 3

    NARCIS (Netherlands)

    Bartels, Bart; Montes, Jacqueline; van der Pol, W. Ludo; de Groot, Janke F.

    2016-01-01

    This is the protocol for a review and there is no abstract. The objectives are as follows: To assess the effects of skeletal muscle training on functional performance in people with spinal muscular atrophy (SMA) type 3 and to identify any adverse effects.

  12. Skeletal muscle training for spinal muscular atrophy type 3 (Protocol).

    NARCIS (Netherlands)

    Bartels, B.; Montes, J.; Pol, W.L. van der; Groot, J.F. de

    2016-01-01

    Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by a genetic mutation in the survival motor neuron 1 (SMN1) gene (5q11.2-q13.3) (Lefebvre 1995). With an incidence of one in 10,000 live births, it is the leading genetic cause of infant death (Lunn 2008; Mercur

  13. Poor Facial Affect Recognition among Boys with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Hinton, V. J.; Fee, R. J.; De Vivo, D. C.; Goldstein, E.

    2007-01-01

    Children with Duchenne or Becker muscular dystrophy (MD) have delayed language and poor social skills and some meet criteria for Pervasive Developmental Disorder, yet they are identified by molecular, rather than behavioral, characteristics. To determine whether comprehension of facial affect is compromised in boys with MD, children were given a…

  14. Primary muscular hydatidosis. US, CT and MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Alexiadis, G.; Deftereos, S.; Manavis, J. [Democritus Univ. of Thrace, Alexandroupolis (Greece). Dept. of Radiology; Lambropoulou, M.; Papadopoulos, N. [Democritus Univ. of Thrace, Alexandroupolis (Greece). Dept. of Pathology

    2002-07-01

    We present a rare case of primary muscular hydatidosis in the left thigh of a 40-year-old female patient. US, CT and MR imaging showed a typical multilocular hydatid cyst deep in the vastus intermedius and vastus medialis muscles. Histopathological examination, which followed surgical excision, established the diagnosis of echinococcus cyst.

  15. P21 deficiency delays regeneration of skeletal muscular tissue.

    Directory of Open Access Journals (Sweden)

    Nobuaki Chinzei

    Full Text Available The potential relationship between cell cycle checkpoint control and tissue regeneration has been indicated. Despite considerable research being focused on the relationship between p21 and myogenesis, p21 function in skeletal muscle regeneration remains unclear. To clarify this, muscle injury model was recreated by intramuscular injection of bupivacaine hydrochloride in the soleus of p21 knockout (KO mice and wild type (WT mice. The mice were sacrificed at 3, 14, and 28 days post-operation. The results of hematoxylin-eosin staining and immunofluorescence of muscle membrane indicated that muscle regeneration was delayed in p21 KO mice. Cyclin D1 mRNA expression and both Ki-67 and PCNA immunohistochemistry suggested that p21 deficiency increased cell cycle and muscle cell proliferation. F4/80 immunohistochemistry also suggested the increase of immune response in p21 KO mice. On the other hand, both the mRNA expression and western blot analysis of MyoD, myogenin, and Pax7 indicated that muscular differentiation was delayed in p21KO mice. Considering these results, we confirmed that muscle injury causes an increase in cell proliferation. However, muscle differentiation in p21 KO mice was inhibited due to the low expression of muscular synthesis genes, leading to a delay in the muscular regeneration. Thus, we conclude that p21 plays an important role in the in vivo healing process in muscular injury.

  16. Local muscular fatigue and attentional processes in a fencing task.

    Science.gov (United States)

    Devienne, M F; Audiffren, M; Ripoll, H; Stein, J F

    2000-02-01

    Study of the effects of brief exercise on mental processes by Tomporowski and Ellis (1986) has shown that moderate muscular tension improves cognitive performance while low or high tension does not. Improvements in performance induced by exercise are commonly associated with increase in arousal, while impairments are generally attributed to the effects of muscular or central fatigue. To test two hypotheses, that (1) submaximal muscular exercise would decrease premotor time and increase would increase the attentional and preparatory effects observed in premotor time 9 men, aged 20 to 30 years, performed an isometric test at 50% of their maximum voluntary contraction between blocks of a 3-choice reaction-time fencing task. Analysis showed (1) physical exercise did not improve postexercise premotor time, (2) muscular fatigue induced by isometric contractions did not increase motor time, (3) there was no effect of exercise on attentional and preparatory processes involved in the postexercise choice-RT task. The invalidation of hypotheses was mainly explained by disparity in directional effects across subjects and by use of an exercise that was not really fatiguing.

  17. Swallow Characteristics in Patients with Oculopharyngeal Muscular Dystrophy

    Science.gov (United States)

    Palmer, Phyllis M.; Neel, Amy T.; Sprouls, Gwyneth; Morrison, Leslie

    2010-01-01

    Purpose: This prospective investigation evaluates oral weakness and its impact on swallow function, weight, and quality of life in patients with oculopharyngeal muscular dystrophy (OPMD). Method: Intraoral pressure, swallow pressure, and endurance were measured using an Iowa Oral Performance Instrument in participants with OPMD and matched…

  18. Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

    NARCIS (Netherlands)

    Raaphorst, Joost; van Tol, Marie-José; Groot, Paul F C; Altena, Ellemarije; van der Werf, Ysbrand D; Majoie, Charles B; van der Kooi, Anneke J; van den Berg, Leonard H; Schmand, Ben; de Visser, Marianne; Veltman, Dick J

    2014-01-01

    OBJECTIVE: To examine brain activation patterns during verbal fluency performance in patients with progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS). METHODS: fMRI was used to examine the blood oxygen level-dependent response during letter and category fluency performance in

  19. Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

    NARCIS (Netherlands)

    J. Raaphorst; M.J. van Tol; P.F.C. Groot; E. Altena; Y.D. van der Werf; C.B. Majoie; A.J. van der Kooi; L.H. van den Berg; B. Schmand; M. de Visser; D.J. Veltman

    2014-01-01

    Objective: To examine brain activation patterns during verbal fluency performance in patients with progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS). Methods: fMRI was used to examine the blood oxygen level-dependent response during letter and category fluency performance in

  20. Epidural anaesthesia in a child with possible spinal muscular atrophy

    NARCIS (Netherlands)

    Veen, A; Molenbuur, B; Richardson, FJ

    2002-01-01

    Spinal muscular atrophy (SMA) is a rare lower motor neurone disease in which anaesthetic management is often difficult as a result of muscle weakness and hypersensitivity to neuromuscular blocking agents. Neuraxial anaesthesia is controversial in these patients; however, some cases have been reporte

  1. Becker′s Muscular Dystrophy-A Case Report

    Directory of Open Access Journals (Sweden)

    Rajendran P

    1998-01-01

    Full Text Available A case of Becker′s Muscular dystrophy (BMD in a 26-year-old male is reported. Muscle biopsy immunohistochemical staining showed absence of labelling for dystrophin along the sacrolemmal membrane in majority of the fibres. Antibodies to adhalin and merosin showed normal localisation along the sacrolemma.

  2. Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.

    NARCIS (Netherlands)

    Sluijs, B.M. van der; Hoefsloot, L.H.; Padberg, G.W.A.M.; Maarel, S.M. van der; Engelen, B.G.M. van

    2003-01-01

    This first description of the oculopharyngeal muscular dystrophy (OPMD) phenotype in Dutch patients shows that limb girdle weakness can occur early in the course of disease and can give the first and major complaint in OPMD patients. The aim of this study was to examine clinically, histologically an

  3. Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?

    NARCIS (Netherlands)

    Hazenberg, A.; Alfen, N. van; Voet, N.B.M.; Kerstjens, H.A.; Wijkstra, P.J.

    2015-01-01

    INTRODUCTION: We present a case of facioscapulohumeral muscular dystrophy (FSHD) with a diaphragm paralysis as the primary cause of ventilatory failure. FSHD is an autosomal dominant inherited disorder with a restricted pattern of weakness. Although respiratory weakness is a relatively unknown in FS

  4. Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

    Directory of Open Access Journals (Sweden)

    Oriana del Rocío Cruz Guzmán

    2012-01-01

    Full Text Available Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways. Therefore, its damage may lead to different metabolic disruptions. Two of the most important metabolic alterations in muscular dystrophies may be insulin resistance and obesity. However, only insulin resistance has been demonstrated in myotonic dystrophy. In addition, endocrine disturbances such as hypogonadism, low levels of testosterone, and growth hormone have been reported. This eventually will result in consequences such as growth failure and delayed puberty in the case of childhood dystrophies. Other consequences may be reduced male fertility, reduced spermatogenesis, and oligospermia, both in childhood as well as in adult muscular dystrophies. These facts all suggest that there is a need for better comprehension of metabolic and endocrine implications for muscular dystrophies with the purpose of developing improved clinical treatments and/or improvements in the quality of life of patients with dystrophy. Therefore, the aim of this paper is to describe the current knowledge about of metabolic and endocrine alterations in diverse types of dystrophinopathies, which will be divided into two groups: childhood and adult dystrophies which have different age of onset.

  5. Antimyosin scintigraphy in patients with acquired and hereditary muscular disorders

    Energy Technology Data Exchange (ETDEWEB)

    Loefberg, M. (Dept. of Neurology, Helsinki Univ. Central Hospital (Finland)); Liewendahl, K. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Savolainen, S. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Nikkinen, P. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Lamminen, A. (Dept. of Radiology, Helsinki Univ. Central Hospital (Finland)); Tiula, E. (First Dept. of Internal Medicine, Helsinki Univ. Central Hospital (Finland)); Somer, H. (Dept. of Neurology, Helsinki Univ. Central Hospital (Finland))

    1994-10-01

    Scintigraphy with indium-111 labelled antimyosin has an established role in the evaluation of cardiac muscle damage. This antibody has been shown to cross-react with myosin in skeletal muscle. We therefore studied the usefulness of this method for the detection of skeletal muscle lesions in rhabdomyolysis, myositis and hereditary muscular dystrophies. All nine patients with rhabdomyolysis had focal uptake of antimyosin antibody which correlated with the clinical findings of soft tissue damage. However, a number of symptomless lesions were also detected by immunoscintigraphy. In rhabdomyolysis the target to non-target uptake ratios varied from 1.3 to 7.6. Diffuse uptake of antibody in skeletal muscle was observed in all three patients with polymyositis-dermatomyositis and in 12 out of 13 patients with muscular dystrophies. In myositis the intensity of antibody accumulation correlated reasonably well with the magnitude of oedema detected by magnetic resonance imaging (MRI). Most patients with Becker type or non-X-chromosomal muscular dystrophies showed slight or moderate uptake of antibody, mainly in the lower extremities. In these patients more antibody accumulated in the calves than in the thighs, whereas the findings on MRI were more prominent in the thighs than in the calves, presumably because of the better preserved muscle bulk in the calves. We conclude that antimyosin scintigraphy can be used for the detection of muscle lesions not only in acquired muscle diseases but also in hereditary muscular disorders, and that immunoscintigraphy provides information on muscle disease activity not obtainable with MRI. (orig.)

  6. Muscular responses and movement strategies during stumbling over obstacles

    NARCIS (Netherlands)

    Schillings, AM; Van Wezel, BMH; Mulder, T; Duysens, J

    2000-01-01

    Muscular responses and movement strategies during stumbling over obstacles. J. Neurophysiol. 83: 2093-2102, 2000. Although many studies have investigated reflexes after stimulation of either cutaneous or proprioceptive afferents, much less is known about responses after more natural perturbations, s

  7. Strength training and albuterol in facioscapulohumeral muscular dystrophy

    NARCIS (Netherlands)

    van der Kooi, EL; Vogels, OJM; van Asseldonk, RJGP; Lindeman, E; Hendriks, JCM; Wohlgemuth, M; van der Maarel, SM; Padberg, GW

    2004-01-01

    Background: In animals and healthy volunteers beta2-adrenergic agonists increase muscle strength and mass, in particular when combined with strength training. In patients with facioscapulohumeral muscular dystrophy (FSHD) albuterol may exert anabolic effects. The authors evaluated the effect of stre

  8. Strength training and albuterol in facioscapulohumeral muscular dystrophy.

    NARCIS (Netherlands)

    Kooi, E.L. van der; Vogels, O.J.M.; Asseldonk, R.J. van; Lindeman, E.J.M.; Hendriks, J.C.M.; Wohlgemuth, M.; Maarel, S.M. van der; Padberg, G.W.A.M.

    2004-01-01

    BACKGROUND: In animals and healthy volunteers beta2-adrenergic agonists increase muscle strength and mass, in particular when combined with strength training. In patients with facioscapulohumeral muscular dystrophy (FSHD) albuterol may exert anabolic effects. The authors evaluated the effect of stre

  9. Phonological Awareness Skills in Young Boys with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Waring, Phoebe; Woodyatt, Gail

    2011-01-01

    Substantial research has detailed the reading deficits experienced by children with Duchenne muscular dystrophy (DMD). Although phonological awareness (PA) is vital in reading development, little is known about PA in the DMD population. This pilot study describes the PA abilities of a group of five young children with DMD, comparing the results…

  10. Dasatinib as a treatment for Duchenne muscular dystrophy.

    Science.gov (United States)

    Lipscomb, Leanne; Piggott, Robert W; Emmerson, Tracy; Winder, Steve J

    2016-01-15

    Identification of a systemically acting and universal small molecule therapy for Duchenne muscular dystrophy would be an enormous advance for this condition. Based on evidence gained from studies on mouse genetic models, we have identified tyrosine phosphorylation and degradation of β-dystroglycan as a key event in the aetiology of Duchenne muscular dystrophy. Thus, preventing tyrosine phosphorylation and degradation of β-dystroglycan presents itself as a potential therapeutic strategy. Using the dystrophic sapje zebrafish, we have investigated the use of tyrosine kinase and other inhibitors to treat the dystrophic symptoms in this model of Duchenne muscular dystrophy. Dasatinib, a potent and specific Src tyrosine kinase inhibitor, was found to decrease the levels of β-dystroglycan phosphorylation on tyrosine and to increase the relative levels of non-phosphorylated β-dystroglycan in sapje zebrafish. Furthermore, dasatinib treatment resulted in the improved physical appearance of the sapje zebrafish musculature and increased swimming ability as measured by both duration and distance of swimming of dasatinib-treated fish compared with control animals. These data suggest great promise for pharmacological agents that prevent the phosphorylation of β-dystroglycan on tyrosine and subsequent steps in the degradation pathway as therapeutic targets for the treatment of Duchenne muscular dystrophy.

  11. Instructions to Adopt an External Focus Enhance Muscular Endurance

    Science.gov (United States)

    Marchant, David C.; Greig, Matt; Bullough, Jonathan; Hitchen, Daniel

    2011-01-01

    The influence of internal (movement focus) and external (outcome focus) attentional-focusing instructions on muscular endurance were investigated using three exercise protocols with experienced exercisers. Twenty-three participants completed a maximal repetition, assisted bench-press test on a Smith's machine. An external focus of attention…

  12. A lesão do trato de Lissauer e do corno posterior da substância cinzenta da medula espinal e a estimulação elétrica do sistema nervoso central para o tratamento da dor por avulsão de raízes do plexo braquial DREZ lesions and electrical stimulation of the central nervous system for treatment of brachial plexus avulsion pain

    OpenAIRE

    MANOEL JACOBSON TEIXEIRA; EVANDRO CÉSAR DE SOUZA; LIN TCHIA YENG; WALTER CARLOS PEREIRA

    1999-01-01

    Descrevemos os resultados do tratamento operatório de 10 doentes com dor resultante de avulsão de raízes do plexo braquial. Sete foram tratados pela técnica de lesão do trato de Lissauer (TL) e do corno posterior da medula espinal (CPME), 4 pela técnica de estimulação elétrica da medula espinal (EM) e 2 pela técnica de estimulação talâmica (ET). Três doentes foram tratados por ambos os procedimentos. Foi observada melhora imediata em 50% dos doentes com a técnica de estimulação medular e em a...

  13. Study on cartilaginous and muscular strains of rat trachea

    Institute of Scientific and Technical Information of China (English)

    TENG Zhongzhao; LIU Zhaorong; LIN Yihan; WANG Yiqin; LI Fufeng; GONG Keqin

    2004-01-01

    This paper introduces a new method, termed Twice Cutting, for obtaining the zero-stress states of cartilage and muscle of trachea. The method applied cuts at the two junctions of tracheal cartilage and muscle perpendicular to the tangent lines of cartilage at its tips. The cartilaginous and muscular opening angles are defined for the first time in Twice Cutting methods. Based on the analysis of cartilaginous and muscular geometric information in no-load and zero-stress states, it is found that there are compressive and tensile residual strains in the inner and outer walls of the cartilage respectively. Residual strains at the muscular inner wall of tracheal rings near bifurcation are negative, whereas those of other rings are positive, and residual strains at outer wall of all rings are positive. This phenomenon of tracheal muscle residual strains is different from those of vessel etc. The results also show that the absolute values of cartilaginous strains are considerably smaller than that of muscular ones, with the ratio being around 0.05. The values of all the tracheal parameters, including residual strains and opening angles, are reducing with the increasing value of tracheal rings' position. So the consequences obtained in this paper not only indicate that the trachea is a non-uniform tissue along the circumferential and axial directions, but also reveal the differences between the trachea and other living tissues, such as vessel, esophagus. This is a basic research for further work, such as determining stress in trachea, to which the cartilaginous and muscular zero-stress states should be referred.

  14. BIOCHEMICAL MECHANISM OF AUTOLYTIC PROCESSES OF MUSCULAR TISSUE OF FISHES

    Directory of Open Access Journals (Sweden)

    L. V. Antipova

    2015-01-01

    Full Text Available The conducted researches allowed to establish that intensive disintegration of a muscular glycogen leads to sharp decrease in size рН muscular tissue in the sour party that in turn affects a chemical composition and physic-colloidal structure of proteins therefore: resistance of meat of fish to action of putrefactive microorganisms increases; solubility of muscle proteins, level of their hydration which is water connecting abilities decreases; there is a swelling of collagen of connecting fabric; activity of the cathepsin (an optimum рН 5,3 causing hydrolysis of proteins at later stages of an autolysis increases; the bicarbonate system of muscular tissue with release of carbon dioxide collapses; predecessors of taste and aroma of meat are formed; process of oxidation of lipids becomes more active. As a result of accumulation dairy, phosphoric and other acids in meat of fish concentration of hydrogen ions of that decrease рН is result increases. Sharply shown sour environment and availability of inorganic phosphorus is considered the reason of disintegration of an actin-myosin complex on actin and a myosin which begins after 8 hours of storage, i.e. there comes the period of relaxation of muscle fibers and the period of permission of an numbness, and then the last stage of maturing of meat – deep autolysis. Thus, on the basis of classical ideas of biochemical changes of meat of land animals and summarizing the obtained data on posthumous changes in muscular tissue of fishes, it is possible to draw a conclusion that they have similar nature of regularity in comparison with muscular tissue of land animals, but their main difference is higher speed of course of autolytic transformations. It in turn leads to faster change of FTS of meat of fishes who are the defining indicators when developing assortment groups of products taking into account stages of an autolysis in meat.

  15. Importância do camundongo mdx na fisiopatologia da distrofia muscular de Duchenne The importance of mdx mouse in the pathophysiology of Duchenne's muscular distrophy

    OpenAIRE

    Sandra Lopes Seixas; Jussara Lagrota-Cândido; Wilson Savino; Thereza Quirico-Santos

    1997-01-01

    O camundongo mdx desenvolve distrofia muscular recessiva ligada ao cromossoma X (locus Xp21.1) e não expressa distrofina. Embora não apresente intensa fibrose do tecido muscular e acúmulo de tecido adiposo, é considerado o modelo animal mais adequado da distrofia muscular de Duchenne. As alterações estruturais no tecido muscular associadas à mionecrose e presença do infiltrado inflamatório com predomínio de linfócitos e monócitos/macrófagos sugerem uma participação do sistema imunológico nest...

  16. THE INFLUENCE OF HANDEDNESS ON THE DISTRIBUTION OF MUSCULAR WEAKNESS OF THE ARM IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY

    NARCIS (Netherlands)

    BROUWER, OF; PADBERG, GW; VANDERPLOEG, RJO; RUYS, CJM; BRAND, R

    1992-01-01

    The strength of 10 muscle groups in both arms was measured using hand-held myometry to determine the influence of handedness on left-right differences of muscle strength in facioscapulohumeral muscular dystrophy (FSHD). Two groups of subjects were studied: 24 healthy volunteers (19 right-handed), an

  17. Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans

    Energy Technology Data Exchange (ETDEWEB)

    Guillet, G.; Guillet, J.; Sanciaume, C.; Maleville, J.; Geniaux, M.; Morin, P.

    1988-04-01

    We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results.

  18. Distrofia muscular progressiva: avaliação do grau de déficit motor pelos testes musculares manuais

    Directory of Open Access Journals (Sweden)

    Abrão Anghinah

    1960-09-01

    Full Text Available O autor assinala alguns aspectos interessantes observados em 17 pacientes portadores de distrofia muscular progressiva nos quais foi feita a avaliação da fôrça muscular pelos testes manuais. Os resultados foram reunidos em quadro que permitiu observar o acometimento muscular simétrico, afetando de preferência os músculos que movimentam as grandes articulações. Por outro lado, êstes déficits atingem de forma diversa os agonistas e antagonistas dentro da mesma unidade sinérgica, resultando daí as retrações músculo-tendíneas e as atitudes viciosas. São mais deficitários os músculos flexores da cabeça e tronco, os adutores e abaixadores da omoplata, os adutores e rotadores externos das coxas, os flexores e extensores das pernas e os flexores dorsais dos pés. Êste último fato contraria a opinião de autores, que admitem serem os músculos das panturrilhas (gastrocnêmios os mais afetados. O autor é contrário à opinião de que o diagnóstico de distrofia muscular progressiva implica na inutilidade de qualquer procedimento de reabilitação, sendo favorável ao emprêgo de programas de exercícios para evitar atitudes viciosas e para desenvolver as capacidades restantes. Considera o emprêgo de testes musculares manuais como método de escolha para a avaliação de incapacidades motoras, para acompanhar a evolução após ser instituído um programa de exercícios e quando se deseja estudar as respostas ao tratamento por drogas medicamentosas.

  19. Comparison of Deflazacort and Prednisone in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Parvaneh KARIMZADEH

    2012-03-01

    Full Text Available How to Cite this Article: Karimzadeh P, Ghazavi A. Comparison of Deflazacort and Prednisone in Duchenne Muscular Dystrophy. IranianJournal of Child Neurology 2012;6(1:5-12.ObjectiveDuchenne muscular dystrophy (DMD is a degenerative disease that usually becomes clinically detectable in childhood as progressive proximal weakness. No cure is yet available for DMD, but the use of steroids improves muscle strength and function. This study has been carried out to select the best steroid for the management of DMD.Materials & MethodsThis study is a single-blind, randomized clinical trial with a sample volume of 34 DMD patients. Half of these patients were treated with deflazacort (0.9 mg/kg daily and the other half with prednisone (0.75 mg/kg daily for a period of 18 months. The motor function score and excess body weight were registered one year after the start and also at the end of the study and compared between the two groups.ResultsDeflazacort was more effective in the improvement of motor function after one year, but there was no significant difference between the two drugs at the end of the study (18 months after start. Weight gain after one year and at the end of the study was higher in prednisone group and steroid treatment with deflazacort appears to cause fewer side effects than prednisone regarding weight gain.ConclusionDeflazacort seems to be more effective than prednisone in the improvement of motor function causing fewer side effects, particularly weight gain. This medication may be important for the improvement of motor function and could be used as the best steroidal treatment for Duchenne muscular dystrophy. References Lankester BJA, Whitehouse MR, Gargan MF. Duchenne muscular dystrophy. Current Orthopedics 2007;21:298- 300. Wenger DR, Rang M. The art and practice of children’s orthopedics. Philadelphia, PA: Lippincott; Baltimore: Williams and Wilkins; 1993. Sussman M. Duchenne muscular dystrophy. J Am Acad Orthop Surg 2002 Mar

  20. Análisis de la densidad de receptores tipo NMDA R1 en el núcleo espinal de trigémino humano Analysis of the density of NMDA R1 receptors in the spinal nucleus of human trigeminal nucleus

    Directory of Open Access Journals (Sweden)

    I. C. Suazo

    2008-09-01

    Full Text Available El sistema trigeminal es encargado de la sensibilidad dolorosa de la mayor parte de los territorios orales y maxilofaciales, en esta función participan los receptores glutamatérgicos tipo NMDA que se encuentran en el núcleo espinal de trigémino. El núcleo espinal de trigémino se encuentra subdividido en tres subnúcleos en sentido rostrocaudal, denominados subnúcleo oral, interpolar y caudal. Clásicamente el subnúcleo caudal se ha considerado el sitio de relevo de la información dolorosa trigeminal. Objetivos. El objetivo del presente estudio fue analizar la distribución del receptor glutamatérgico NMDA en el núcleo espinal de trigémino en humanos. Material y Métodos. En este estudio se utilizaron 10 troncos encefálicos humanos obtenidos de cadáveres con una data postmortem de 8,7 horas en promedio (devesta 2,75, los cuales fueron sometidos a secciones transversales seriadas, obteniéndose 120 controles anatómicos teñidos con tinción de Mulligan y 120 placas sometidas a inmunohistoquímica con anticuerpos monoclonales anti-NMDA R1 (SigmaR en dilución 1:500 en 0,3% de Triton X-100 a ph 7,3 0,1 M. Resultados. Los resultados comprobaron la existencia de receptores glutamatérgicos tipo NMDA R1 en el núcleo espinal de trigémino humano, con un leve predominio en el subnúcleo caudal, sin encontrar una diferencia estadísticamente significativa. Debido a la importante presencia de estos receptores en los subnúcleos oral e interpolar. Conclusiones. Los resultados sugieren que todos los niveles del núcleo espinal de trigémino participarían en la transmisión dolorosa originada en los territorios orales y maxilofaciales.The trigeminal system is in charge of the painful sensibility of most the oral and maxilofaciales territory, in this function take part the NMDA type receptors that are in the spinal nucleus of trigeminal nerve. The spinal nucleus of trigéminal is subdivided in three subnucleuses in rostrocaudal orientation

  1. Muscular activity may improve in edentulous patients after implant treatment.

    Science.gov (United States)

    Afrashtehfar, Kelvin I; Schimmel, Martin

    2016-12-01

    Data sourcesMedline via Pubmed and the Cochrane Library were searched from January 1980 to September 2013. This was complemented by a manual search of the magazines Deutsche Zahnaerztliche Zeitung, Quintessenz, Zeitschrift für Zahnärztliche Implantologie, Schweizerische Monatszeitschrift and Implantologie. Additionally, the list of reference s of all selected full-text articles and related reviews were further scrutinised for potential included studies in English or German.Study selectionThree review authors independently searched for clinical trials that assessed the muscular activity in the intervention groups: edentulous patients treated with implant-overdentures (IODs) and implant-supported fixed dental prostheses (ISFDPs) and the comparison groups: dentates and edentulous patients treated with mucosa-borne complete removable dental prostheses (CRDPs).Data extraction and synthesisThe primary outcome was the muscular activity (measured by electromyography [EMG]) in masseter or temporalis muscle of the participants during clenching and chewing. The data extraction of each included study consisted of author, year, age range, treatment, number of participants, number of implants inserted, arch treated, opposite jaw, kind and side of the muscles that were measured. EMG gain or loss (unit measured: volt) was considered by using the effect size. For the meta-analyses only the studies that included masseter muscle measured separately from temporalis were considered. Concerning the side of measurement (right and left side measured together or right and left side measured separately), only the dominant type in each category was included.ResultsSixteen articles, out of the initial 646 retrieved abstracts, were analysed. The muscular activity of edentulous subjects increased after implant support therapy during clenching (effect size [ES]: 2.18 [95% confidence interval [CI]: 1.14, 3.23]) and during chewing (ES: 1.45 [95 % CI: 1.21, 1.69]). In addition, the pooled EMG

  2. Dolor de origen muscular: dolor miofascial y fibromialgia Muscular pain: myofascial pain syndrome and fibromyalgia

    Directory of Open Access Journals (Sweden)

    M. Ruiz

    2007-01-01

    Full Text Available El dolor miofascial es una importante fuente de alteraciones para todos los sujetos que la padecen. Su prevalencia es muy elevada en atención primaria, aunque es aún mayor en los centros de atención especializada, siendo muy variables las cifras que se encuentran en la literatura. Para el estudio de esta entidad es necesario conocer dos conceptos básicos: tensión muscular y "trigger points". No existe ninguna teoría totalmente aceptada en la actualidad, aunque parece que existe un componente autonómico y otro de sensibilización central. Un minucioso examen físico y una completa historia clínica son los dos elementos fundamentales para llegar al diagnóstico. El dolor miofascial comprende un heterogéneo grupo de enfermedades que requiere un tratamiento multidisciplinar. El tratamiento de elección es la terapia física, en especial los ejercicios de estiramiento diseñados para recuperar la longitud del músculo. La fibromialgia es una entidad que se caracteriza por dolor crónico generalizado y la presencia de puntos sensibles o "tender points". El origen de esta enfermedad continúa, aún hoy día por dilucidarse. Se han elaborado múltiples teorías, pero en la actualidad no hay ninguna completamente aceptada. Los pacientes presentan rigidez matutina y dolores articulares generalizados, aunque esta enfermedad no es articular. También aparece cefalea crónica, fatiga, trastornos del sueño, parestesias, ansiedad y colon irritable. El diagnóstico se apoya en los criterios de clasificación del Colegio Americano de Reumatología de 1990. Hay que comentar con los enfermos que el tratamiento se instaurará para mejorar la funcionalidad y la calidad de vida, aunque lo más probable es que se consiga sólo de forma parcial. La terapia con antidepresivos tricíclicos mejorará el estado de ánimo y los trastornos del sueño, ambos factores de vital importancia en esta patología. El tratamiento no farmacológico con programas de

  3. A influência da mobilização articular nas tendinopatias dos músculos bíceps braquial e supra-espinal The influence of joint mobilization on tendinopathy of the biceps brachii and supraspinatus muscles

    Directory of Open Access Journals (Sweden)

    RI Barbosa

    2008-08-01

    Full Text Available As causas mais comuns de dor no ombro estão relacionadas às degenerações dos tendões da musculatura do manguito rotador. OBJETIVO: Verificar a influência da mobilização articular por meio dos movimentos acessórios do ombro na recuperação inicial de 14 pacientes com tendinopatia crônica dos mm. supra-espinal e/ou bíceps braquial. MÉTODOS: Foram comparados dois protocolos de tratamento, compostos da aplicação de ultra-som terapêutico na área do tendão afetado e de treinamento excêntrico na musculatura envolvida, acompanhados ou não de manobras de mobilização articular. Como métodos de avaliação foram utilizados os questionários de Constant e Disabilities of the Arm, Shoulder and Hand (DASH, no início e ao final do tratamento. RESULTADOS: Os resultados encontrados demonstraram que ambos os protocolos de tratamento foram eficazes na reabilitação dos pacientes, pois se obtiveram melhores resultados funcionais na aplicação dos questionários quando comparados o final com o início do tratamento para os pacientes (pThe most common causes of shoulder pain are related to degeneration of the tendons of the rotator cuff muscles. OBJECTIVE: To investigate the influence of joint mobilization by means of accessory movements of the shoulder during the early rehabilitation of 14 patients with chronic tendinopathy of the supraspinatus and/or biceps brachii muscles. METHODS: Two treatment protocols were compared: application of therapeutic ultrasound over the affected tendon area and eccentric training of the musculature involved, with or without joint mobilization maneuvers. The Constant and DASH (Disabilities of the Arm, Shoulder and Hand questionnaires were used as the assessment method, before and after the treatment. RESULTS: The results showed that both treatment protocols were effective for patient rehabilitation, since better functional results were obtained at the end of the treatment, in comparison with the beginning (p<0

  4. Biomechanical analysis of the muscular power of martial arts athletes.

    Science.gov (United States)

    Machado, S M; Osório, R A L; Silva, N S; Magini, M

    2010-06-01

    This study analyzes the performance of knee extension and flexion of Taekwondo and Kickboxing athletes. The power values were extracted through electromyography obtained by an isokinetic dynamometer at 60 degrees per second. These values are resulted from the square of the electromyography signal. The analysis of kick power was made using a modified wavelet algorithm considering values with 95% significance. Both groups presented equivalent power and torque capacity with different training times and experience, on the other hand, the wavelet analysis showed better results in muscular recruitment performance in athletes with more experience, in other words, power is not only performance but also power plus recruitment produces better results. This study uniquely showed that muscular enhancement capacity is not only related to the power capacity of contraction but also to motor coordination.

  5. Spinal muscular atrophy: development and implementation of potential treatments.

    Science.gov (United States)

    Arnold, W David; Burghes, Arthur H M

    2013-09-01

    In neurodegenerative disorders, effective treatments are urgently needed, along with methods to determine whether treatment worked. In this review, we discuss the rapid progress in the understanding of recessive proximal spinal muscular atrophy and how this is leading to exciting potential treatments of the disease. Spinal muscular atrophy is caused by loss of the survival motor neuron 1 (SMN1) gene and reduced levels of SMN protein. The critical downstream targets of SMN deficiency that result in motor neuron loss are not known. However, increasing SMN levels has a marked impact in mouse models, and these therapeutics are rapidly moving toward clinical trials. Promising preclinical therapies, the varying degree of impact on the mouse models, and potential measures of treatment effect are reviewed. One key issue discussed is the variable outcome of increasing SMN at different stages of disease progression.

  6. Muscular dystrophies: key elements for everyday diagnosis and management

    Directory of Open Access Journals (Sweden)

    Alberto Palladino

    2013-12-01

    Full Text Available Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life. In recent years, cardiac involvement has been observed in a growing number of genetic muscle diseases, and considerable progress has been made in understanding the relationships between disease skeletal muscle and cardiac muscle disease. This review will focus on the skeletal muscle diseases most commonly associated with cardiac complications that can be diagnosed by echocardiography, such as dystrophinopathies including Duchenne (DMD and Becker (BMD muscular dystrophies, cardiomyopathy of DMD/BMD carriers and X-L dilated cardiomyopathy.

  7. Palpation for muscular tenderness in the anterior chest wall

    DEFF Research Database (Denmark)

    Christensen, Henrik Wulff; Vach, Werner; Manniche, Claus;

    2003-01-01

    OBJECTIVE: To asses the interobserver and intraobserver reliability (in terms of day-to-day and hour-to-hour reliability) of palpation for muscular tenderness in the anterior chest wall. DESIGN: A repeated measures designs was used. SETTING: Department of Nuclear Medicine, Odense University...... Hospital, Denmark. PARTICIPANTS: Two experienced chiropractors examined 29 patients and 27 subjects in the interobserver part, and 1 of the 2 chiropractors examined 14 patients and 15 subjects in the intraobserver studies. INTERVENTION: Palpation for muscular tenderness was done in 14 predetermined areas...... palpating for intercostal tenderness or tenderness in the minor and major pectoral muscles in a population of patients with and without chest pain. This may hamper the ability of clinicians to diagnose and classify the musculoskeletal component of chest pain if based exclusively on palpation of the anterior...

  8. Muscular dystrophy meets protein biochemistry, the mother of invention.

    Science.gov (United States)

    Funk, Steven D; Miner, Jeffrey H

    2017-03-01

    Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ability to polymerize within the muscle fiber BM. Defects in this BM lead to muscle fiber damage from the force of contraction. In this issue of the JCI, McKee and colleagues use a laminin polymerization-competent, designer chimeric BM protein in vivo to restore function of a polymerization-defective laminin, leading to normalized muscle structure and strength in a mouse model of MDC1A. Delivery of such a protein to patients could ameliorate many aspects of their disease.

  9. Fibrogenic Cell Plasticity Blunts Tissue Regeneration and Aggravates Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Patrizia Pessina

    2015-06-01

    Full Text Available Preservation of cell identity is necessary for homeostasis of most adult tissues. This process is challenged every time a tissue undergoes regeneration after stress or injury. In the lethal Duchenne muscular dystrophy (DMD, skeletal muscle regenerative capacity declines gradually as fibrosis increases. Using genetically engineered tracing mice, we demonstrate that, in dystrophic muscle, specialized cells of muscular, endothelial, and hematopoietic origins gain plasticity toward a fibrogenic fate via a TGFβ-mediated pathway. This results in loss of cellular identity and normal function, with deleterious consequences for regeneration. Furthermore, this fibrogenic process involves acquisition of a mesenchymal progenitor multipotent status, illustrating a link between fibrogenesis and gain of progenitor cell functions. As this plasticity also was observed in DMD patients, we propose that mesenchymal transitions impair regeneration and worsen diseases with a fibrotic component.

  10. Satellite Cells in Muscular Dystrophy - Lost in Polarity.

    Science.gov (United States)

    Chang, Natasha C; Chevalier, Fabien P; Rudnicki, Michael A

    2016-06-01

    Recent findings employing the mdx mouse model for Duchenne muscular dystrophy (DMD) have revealed that muscle satellite stem cells play a direct role in contributing to disease etiology and progression of DMD, the most common and severe form of muscular dystrophy. Lack of dystrophin expression in DMD has critical consequences in satellite cells including an inability to establish cell polarity, abrogation of asymmetric satellite stem-cell divisions, and failure to enter the myogenic program. Thus, muscle wasting in dystrophic mice is not only caused by myofiber fragility but is exacerbated by intrinsic satellite cell dysfunction leading to impaired regeneration. Despite intense research and clinical efforts, there is still no effective cure for DMD. In this review we highlight recent research advances in DMD and discuss the current state of treatment and, importantly, how we can incorporate satellite cell-targeted therapeutic strategies to correct satellite cell dysfunction in DMD.

  11. Eyeball pseudo-muscular actuators for an android face

    Science.gov (United States)

    Carpi, Federico; De Rossi, Danilo

    2005-05-01

    The human attention system is based on the capability of the eye of focusing and tracking. These actions are performed by the eyeball muscle system, as a consequence of visual stimuli. The F.A.C.E. (Facial Automaton for Conveying Emotions) project at our lab concerns the development of an android face endowed with dynamic expressiveness and artificial vision. Aimed at realising an artificial attention system for such an automaton, we present here a study for the development of pseudo-muscular polymer actuators for its eyeballs. The system is based on the mimicry of the muscular architecture of the human eye. In particular, linear actuators made of dielectric elastomers have been designed to replicate actions exerted by the main ocular muscles.

  12. Fibrogenic Cell Plasticity Blunts Tissue Regeneration and Aggravates Muscular Dystrophy.

    Science.gov (United States)

    Pessina, Patrizia; Kharraz, Yacine; Jardí, Mercè; Fukada, So-ichiro; Serrano, Antonio L; Perdiguero, Eusebio; Muñoz-Cánoves, Pura

    2015-06-09

    Preservation of cell identity is necessary for homeostasis of most adult tissues. This process is challenged every time a tissue undergoes regeneration after stress or injury. In the lethal Duchenne muscular dystrophy (DMD), skeletal muscle regenerative capacity declines gradually as fibrosis increases. Using genetically engineered tracing mice, we demonstrate that, in dystrophic muscle, specialized cells of muscular, endothelial, and hematopoietic origins gain plasticity toward a fibrogenic fate via a TGFβ-mediated pathway. This results in loss of cellular identity and normal function, with deleterious consequences for regeneration. Furthermore, this fibrogenic process involves acquisition of a mesenchymal progenitor multipotent status, illustrating a link between fibrogenesis and gain of progenitor cell functions. As this plasticity also was observed in DMD patients, we propose that mesenchymal transitions impair regeneration and worsen diseases with a fibrotic component.

  13. Systemic Vascular Function Is Associated with Muscular Power in Older Adults

    Directory of Open Access Journals (Sweden)

    Kevin S. Heffernan

    2012-01-01

    Full Text Available Age-associated loss of muscular strength and muscular power is a critical determinant of loss of physical function and progression to disability in older adults. In this study, we examined the association of systemic vascular function and measures of muscle strength and power in older adults. Measures of vascular endothelial function included brachial artery flow-mediated dilation (FMD and the pulse wave amplitude reactive hyperemia index (PWA-RHI. Augmentation index (AIx was taken as a measure of systemic vascular function related to arterial stiffness and wave reflection. Measures of muscular strength included one repetition maximum (1RM for a bilateral leg press. Peak muscular power was measured during 5 repetitions performed as fast as possible for bilateral leg press at 40% 1RM. Muscular power was associated with brachial FMD (r=0.43, P<0.05, PWA-RHI (r=0.42, P<0.05, and AIx (r=−0.54, P<0.05. Muscular strength was not associated with any measure of vascular function. In conclusion, systemic vascular function is associated with lower-limb muscular power but not muscular strength in older adults. Whether loss of muscular power with aging contributes to systemic vascular deconditioning or vascular dysfunction contributes to decrements in muscular power remains to be determined.

  14. Sarcopenia and sarcopenic obesity in patients with muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Luciano eMerlini

    2014-10-01

    Full Text Available Aging sarcopenia and muscular dystrophy are two conditions characterized by lower skeletal muscle quantity, lower muscle strength, and lower physical performance. Aging is associated with a peculiar alteration in body composition called sarcopenic obesity characterized by a decrease in lean body mass and increase in fat mass. To evaluate the presence of sarcopenia and obesity in a cohort of adult patients with muscular dystrophy we have used the measurement techniques considered golden standard for sarcopenia that is for muscle mass dual energy X-ray absorptiometry (DXA, for muscle strength hand held dynamometry, and for physical performance gait speed. The study involved 14 adult patients with different types of muscular dystrophy. We were able to demonstrate that all patient were sarcopenic-obese. We showed in fact that all were sarcopenic based on appendicular lean, fat & bone free, mass index (ALMI. In addition all resulted obese according to the % of body fat determined by DXA in contrast with their body mass index ranging from underweight to obese. Skeletal muscle mass determined by DXA was markedly reduced in all patients and correlated with residual muscle strength determined by hand held dynamometry, and physical performances determined by gait speed and respiratory function. Finally we showed that ALMI was the best linear explicator of muscle strength and physical function. Altogether, our study suggest the relevance of a proper evaluation of body composition in muscular dystrophy and we propose to use, both in research and practice, the measurement techniques that has already been demonstrated effective in aging sarcopenia.

  15. Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy

    DEFF Research Database (Denmark)

    Andersen, Grete; Prahm, Kira P; Dahlqvist, Julia R;

    2015-01-01

    OBJECTIVE: To investigate the effect of regular aerobic training and postexercise protein-carbohydrate supplementation in patients with facioscapulohumeral muscular dystrophy (FSHD). METHODS: In this randomized, double-blind, placebo-controlled parallel study, we randomized untrained men (n = 21...... not add any further improvement to training effects alone. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that regular aerobic training with or without postexercise protein-carbohydrate supplementation improves fitness and workload in patients with FSHD....

  16. Torn apart: membrane rupture in muscular dystrophies and associated cardiomyopathies

    OpenAIRE

    2007-01-01

    Muscular dystrophies are often caused by mutations in cytoskeletal proteins that render cells more susceptible to strain-induced injury in mechanically active tissues such as skeletal or cardiac muscle. In this issue of the JCI, Han et al. report that dysferlin participates in membrane resealing in cardiomyocytes and that exercise results in increased membrane damage and disturbed cardiac function in dysferlin-deficient mice (see the related article beginning on page 1805). Thus, in addition ...

  17. Pathophysiology of Acute Exercise-Induced Muscular Injury: Clinical Implications

    OpenAIRE

    1995-01-01

    Acute muscular injury is the most common injury affecting athletes and those participating in exercise. Nearly everyone has experienced soreness after unaccustomed or intense exercise. Clinically, acute strains and delayed-onset muscle soreness are very similar. The purpose of this paper is to review the predisposing factors, mechanisms of injury, structural changes, and biochemical changes associated with these injuries. Laboratory and clinical findings are discussed to help athletic trainer...

  18. Muscular activation patterns of the bow arm in recurve archery.

    Science.gov (United States)

    Ertan, Hayri

    2009-05-01

    In archery shooting, the archer should hold the bow in place using only the pressure produced through drawing back the bowstring. Most coaches discourage the archer from gripping the bow as this is believed to produce a sideways deflecting torque on the bow and arrow during the release. The purpose of this study was to compare the bow hand forearm muscular activation patterns of elite archers with beginners to define the muscular contraction-relaxation strategies in the bow hand forearm muscles during archery shooting and investigate the effects of performance level on these strategies. Electromyographic activity of the M. flexor digitorum superficialis and the M. extensor digitorum of 10 elite and 10 beginner archers were recorded together with a pulse synchronized with the clicker snap. Raw electromyographic records as 1s before and after the clicker pulse were rectified, integrated, and normalized. The data was then averaged for successive shots of each subject and later for both groups of archers. The main difference between the elite and beginner archers was that the elite archers had a greater activation of the M. extensor digitorum, which indicates that they avoid gripping the bow-handle not only relaxing the flexor muscles, but also contracting the extensor muscle groups. This muscular contraction strategy secures the archer to not interfere with the forward movement of the bow, which is the forward acceleration of the bow caused by the pushing power of the bowstring.

  19. Muscular dystrophy in PTFR/cavin-1 null mice

    Science.gov (United States)

    Ding, Shi-Ying; Pilch, Paul F.

    2017-01-01

    ice and humans lacking the caveolae component polymerase I transcription release factor (PTRF, also known as cavin-1) exhibit lipo- and muscular dystrophy. Here we describe the molecular features underlying the muscle phenotype for PTRF/cavin-1 null mice. These animals had a decreased ability to exercise, and exhibited muscle hypertrophy with increased muscle fiber size and muscle mass due, in part, to constitutive activation of the Akt pathway. Their muscles were fibrotic and exhibited impaired membrane integrity accompanied by an apparent compensatory activation of the dystrophin-glycoprotein complex along with elevated expression of proteins involved in muscle repair function. Ptrf deletion also caused decreased mitochondrial function, oxygen consumption, and altered myofiber composition. Thus, in addition to compromised adipocyte-related physiology, the absence of PTRF/cavin-1 in mice caused a unique form of muscular dystrophy with a phenotype similar or identical to that seen in humans lacking this protein. Further understanding of this muscular dystrophy model will provide information relevant to the human situation and guidance for potential therapies.

  20. Muscular endurance training and motor unit firing patterns during fatigue.

    Science.gov (United States)

    Mettler, Joni A; Griffin, Lisa

    2016-01-01

    With muscular training, the central nervous system may regulate motor unit firing rates to sustain force output and delay fatigue. The aims of this study were to investigate motor unit firing rates and patterns of the adductor pollicis (AdP) muscle in young, able-bodied adults throughout a sustained submaximal isometric fatiguing contraction and postactivation potentiation pre-post 4 weeks of muscular endurance training. Fifteen participants (training group: N = 10; control group: N = 5) performed maximal voluntary contractions (MVCs) and a sustained isometric 20 % MVC fatigue task pre-post training. Single-motor-unit potentials were recorded from the AdP during the fatigue task with intramuscular fine-wire electrodes. Twitch force potentiation was measured during single-pulse electrical stimulation of the ulnar nerve before and after MVCs. The training group endurance trained their AdP muscle at 20 % MVC for 4 weeks. Mean motor unit firing rates were calculated every 5 % of endurance time (ET). ET increased by 45.2 ± 8.7 % (p pattern consisted of an initial slowing followed by an increase in firing rate late in fatigue and remained consistent pre-post training. Potentiation did not change following training. These data suggest that the ability of the neuromuscular system to sustain motor unit firing rate may serve as a mechanism to augment the duration of submaximal muscle performance and delay muscular fatigue.

  1. O retardo mental na distrofia muscular de Duchenne

    Directory of Open Access Journals (Sweden)

    Flávia Nardes

    2012-02-01

    Full Text Available OBJETIVO: Fazer um levantamento da literatura médica destinada ao estudo das disfunções cognitivas nos pacientes com distrofia muscular de Duchenne, através da descrição dos marcos do desenvolvimento neuropsicomotor e dos testes psicométricos para quantificação da inteligência. FONTES DOS DADOS: Revisão não sistemática sobre os aspectos da cognição na distrofia muscular de Duchenne nas principais bases médicas científicas: MEDLINE, LILACS, Biblioteca Cochrane e SciELO. SÍNTESE DOS DADOS: Os pacientes com distrofia muscular de Duchenne apresentaram atraso para marcha e desenvolvimento da linguagem, os quais se correlacionaram a menores pontuações nos testes de inteligência no futuro. Há marcante disfunção nos subtestes das habilidades verbais. CONCLUSÕES: A média do coeficiente de inteligência encontra-se com um desvio padrão abaixo da média populacional. Quanto maior a disfunção cognitiva, piores serão os aspectos relacionados à morbidade e mortalidade na doença.

  2. Lipogenesis mitigates dysregulated sarcoplasmic reticulum calcium uptake in muscular dystrophy.

    Science.gov (United States)

    Paran, Christopher W; Zou, Kai; Ferrara, Patrick J; Song, Haowei; Turk, John; Funai, Katsuhiko

    2015-12-01

    Muscular dystrophy is accompanied by a reduction in activity of sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA) that contributes to abnormal Ca(2+) homeostasis in sarco/endoplasmic reticulum (SR/ER). Recent findings suggest that skeletal muscle fatty acid synthase (FAS) modulates SERCA activity and muscle function via its effects on SR membrane phospholipids. In this study, we examined muscle's lipid metabolism in mdx mice, a mouse model for Duchenne muscular dystrophy (DMD). De novo lipogenesis was ~50% reduced in mdx muscles compared to wildtype (WT) muscles. Gene expressions of lipogenic and other ER lipid-modifying enzymes were found to be differentially expressed between wildtype (WT) and mdx muscles. A comprehensive examination of muscles' SR phospholipidome revealed elevated phosphatidylcholine (PC) and PC/phosphatidylethanolamine (PE) ratio in mdx compared to WT mice. Studies in primary myocytes suggested that defects in key lipogenic enzymes including FAS, stearoyl-CoA desaturase-1 (SCD1), and Lipin1 are likely contributing to reduced SERCA activity in mdx mice. Triple transgenic expression of FAS, SCD1, and Lipin1 (3TG) in mdx myocytes partly rescued SERCA activity, which coincided with an increase in SR PE that normalized PC/PE ratio. These findings implicate a defect in lipogenesis to be a contributing factor for SERCA dysfunction in muscular dystrophy. Restoration of muscle's lipogenic pathway appears to mitigate SERCA function through its effects on SR membrane composition.

  3. Molecular Signatures of Membrane Protein Complexes Underlying Muscular Dystrophy*

    Science.gov (United States)

    Turk, Rolf; Hsiao, Jordy J.; Smits, Melinda M.; Ng, Brandon H.; Pospisil, Tyler C.; Jones, Kayla S.; Campbell, Kevin P.; Wright, Michael E.

    2016-01-01

    Mutations in genes encoding components of the sarcolemmal dystrophin-glycoprotein complex (DGC) are responsible for a large number of muscular dystrophies. As such, molecular dissection of the DGC is expected to both reveal pathological mechanisms, and provides a biological framework for validating new DGC components. Establishment of the molecular composition of plasma-membrane protein complexes has been hampered by a lack of suitable biochemical approaches. Here we present an analytical workflow based upon the principles of protein correlation profiling that has enabled us to model the molecular composition of the DGC in mouse skeletal muscle. We also report our analysis of protein complexes in mice harboring mutations in DGC components. Bioinformatic analyses suggested that cell-adhesion pathways were under the transcriptional control of NFκB in DGC mutant mice, which is a finding that is supported by previous studies that showed NFκB-regulated pathways underlie the pathophysiology of DGC-related muscular dystrophies. Moreover, the bioinformatic analyses suggested that inflammatory and compensatory mechanisms were activated in skeletal muscle of DGC mutant mice. Additionally, this proteomic study provides a molecular framework to refine our understanding of the DGC, identification of protein biomarkers of neuromuscular disease, and pharmacological interrogation of the DGC in adult skeletal muscle https://www.mda.org/disease/congenital-muscular-dystrophy/research. PMID:27099343

  4. Computational modeling of muscular thin films for cardiac repair

    Science.gov (United States)

    Böl, Markus; Reese, Stefanie; Parker, Kevin Kit; Kuhl, Ellen

    2009-03-01

    Motivated by recent success in growing biohybrid material from engineered tissues on synthetic polymer films, we derive a computational simulation tool for muscular thin films in cardiac repair. In this model, the polydimethylsiloxane base layer is simulated in terms of microscopically motivated tetrahedral elements. Their behavior is characterized through a volumetric contribution and a chain contribution that explicitly accounts for the polymeric microstructure of networks of long chain molecules. Neonatal rat ventricular cardiomyocytes cultured on these polymeric films are modeled with actively contracting truss elements located on top of the sheet. The force stretch response of these trusses is motivated by the cardiomyocyte force generated during active contraction as suggested by the filament sliding theory. In contrast to existing phenomenological models, all material parameters of this novel model have a clear biophyisical interpretation. The predictive features of the model will be demonstrated through the simulation of muscular thin films. First, the set of parameters will be fitted for one particular experiment documented in the literature. This parameter set is then used to validate the model for various different experiments. Last, we give an outlook of how the proposed simulation tool could be used to virtually predict the response of multi-layered muscular thin films. These three-dimensional constructs show a tremendous regenerative potential in repair of damaged cardiac tissue. The ability to understand, tune and optimize their structural response is thus of great interest in cardiovascular tissue engineering.

  5. Diagnosis delay of Duchenne Muscular Dystrophy Demora no diagnóstico da Distrofia Muscular de Duchenne

    Directory of Open Access Journals (Sweden)

    Alexandra Prufer de Queiroz Campos Araújo

    2004-06-01

    Full Text Available OBJECTIVES: to study the clinical features of Duchenne Muscular Dystrophy with emphasis on diagnosis delay. METHODS: an observational descriptive retrospective study was performed using medical records of patients with diagnosis of Duchenne Muscular Dystrophy given in the period from 1989 to 2000 at the neuropediatric out-patient clinic of a University Hospital. RESULTS: immunohistochemical results or deletion on the dystrophin gene confirmed the diagnosis of the 78 boys included in this study. Parents had noticed the first symptoms since the median age of two years. The final diagnosis was reached at a median age of seven. CONCLUSIONS: diagnosis age is closer to the age of ambulation loss than that of the first symptoms. There is a marked delay for the diagnosis of this disease in our setting.OBJETIVOS: estudar as características clínicas da Distrofia Muscular de Duchenne, com especial enfoque no tempo decorrido para o diagnóstico. MÉTODOS: realizou-se um estudo observacional descritivo e retrospectivo de pacientes com diagnóstico de distrofia muscular atendidos nos ambulatórios de neuropediatria de um Hospital Universitário no período de 1989 a 2000. RESULTADOS: foram incluídos 78 meninos com confirmação diagnóstica por imunohistoquímica ou deleção no gene da distrofina. A idade mediana da percepção dos primeiros sintomas pela família foi de dois anos e a idade mediana do diagnóstico definitivo de sete anos. CONCLUSÕES: a época do diagnóstico se aproxima mais da idade da perda da marcha do que do início dos sintomas. É grande a demora para o diagnóstico desta doença em nosso meio.

  6. Nuevos conceptos sobre el sistema muscular peribucal News concepts on the peribucal muscular system

    Directory of Open Access Journals (Sweden)

    J.D. Giacomotti

    2009-06-01

    Full Text Available Realizamos una revisión de la musculatura perioral considerándola como un verdadero sistema y analizamos la participación muscular en las distintas funciones de los labios, introduciendo aquí la noción de un músculo buccinador compuesto por dos sectores: uno superior y otro inferior, con acciones e inervación diferentes. A partir de este enfoque, investigamos la dinámica comisural, a saber: acercamiento (oclusión-proyección labial y separación de las comisuras, así como también su elevación y descenso. En este aspecto enfatizamos sobre la intervención del sector superior del buccinador (junto a la columna canino-triangular en la oclusión-proyección labial y la del sector inferior del músculo como integrante del sistema de contención de la saliva al mantener aplicada la mejilla contra la arcada dentaria. Finalmente remarcamos la presencia de las ramas temporal y cervical del nervio facial señalando los límites de cada una y la importancia que esto representa en el normal funcionamiento del aparato labial.A review of perioral muscles is made considering theme as a real system. We analyze the muscle involvement in the various functions of the lips, introducing the notion of a buccinator muscle composed by two parts: an upper one and a lower one, with different functions and innervation. Therefore, the comisural dynamic is investigated, determining the approchement (lip occlusion-projection and commissure separation as well as its elevation and descend. It's emphasized that the buccinator upper sector (together with the caninotriangular column takes part in the lip occlusion -projection and that the buccinator lower sector is a salival containment system which applies the cheek against the dentary arcade. Finally, it's been highlighted the distribution of the facial nerve branches (cervical and temporal ones in order to denote their importance in the normal function of the lip complex.

  7. Large deletions within the spinal muscular atrophy gene region in a patient with spinal muscular atrophy type 3

    Institute of Scientific and Technical Information of China (English)

    Wei Wei; Chunyue Chen; Wenting Liu; Zhenfang Du; Xiaoling Chen; Xianning Zhang

    2011-01-01

    Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration and loss of anterior horn cells in the spinal cord and brain stem nuclei, leading to progressive limb and trunk paralysis and muscular atrophy. Depending on the age of onset and maximum muscular function achieved, SMA is recognized as SMA1, SMA2, SMA3 or SMA4, and most patients have a deletion or truncation of the survival motor neuron 1 (SMN1) gene. In this report, we present a patient with a mild SMA phenotype, SMA3, and define his genetic abnormality. Tetra-primer amplification refractory mutation system PCR combined with restriction fragment length polymorphism analysis and array comparative genomic hybridization were used to determine the genetic variations in this patient. A 500 kb deletion in chromosome 5q13.2, including homozygous deletion of neuronal apoptosis inhibitory protein, and heterozygous deletion of occludin and B-double prime 1 was identified. This SMA region deletion did not involve SMN, indicating that SMN was likely to function normally. The phenotype was dependent of the large deletion and neuronal apoptosis inhibitory protein, occludin and B-double prime 1 may be candidate genes for SMA3.

  8. Tratamento da distrofia muscular progressiva com lactato de sódio Treatment of progressive muscular dystrophy with sodium lactate

    Directory of Open Access Journals (Sweden)

    José Antonio Levy

    1969-12-01

    Full Text Available Com base em trabalhos anteriores, 13 casos de distrofia muscular progressiva foram tratados com lactato de sódio 1/6 molar associado a ATP e complexo B. O exame da força muscular, realizado antes e após o tratamento — salvo em dois casos nos quais ocorreram melhoras muito discretas — não mostrou qualquer efeito favorável da medicação. Os autores sugerem a verificação de possíveis alterações enzimáticas provocadas pelo lactato de sódio, o que serviria para melhor avaliação do efeito terapêutico.Thirteen cases of progressive muscular dystrophy were treated with 1/6 M. sodium lactate plus ATP and B complex. Examinations of muscle strength, before and after the treatment, did not show any favourable effects, except in two of the cases which showed slight improvement. The authors suggest that possible enzimatic alterations caused by the sodium lactate be checked up on, since this checking could be employed in the evaluation of the therapeutic effects.

  9. Aerobic interval exercise with an eccentric contraction induces muscular hypertrophy and augmentation of muscular strength in rats.

    Science.gov (United States)

    Tsumiyama, Wakako; Oki, Sadaaki; Takamiya, Naomi; Umei, Namiko; Shimizu, Michele Eisemann; Ono, Takeya; Otsuka, Akira

    2015-04-01

    [Purpose] The purpose of this study was to examine whether an aerobic interval exercise using an eccentric contraction would result in skeletal muscular hypertrophy and augmentation of muscular strength in rats. [Subjects and Methods] Twenty-one female Wistar rats were used in this study. The rats were randomly divided into three groups. The control group performed no exercise. The aerobic endurance exercise group ran for 90 min. The aerobic interval exercise group ran for a total of 90 minutes in 5 minute bouts separated by 2 minute rest periods. The exercise groups ran on a downhill treadmill incline, once every three days, for a total of twenty sessions. [Results] The muscle wet weights, the muscle fiber cross-section minor axes, and the tetanus tension results of the aerobic endurance and aerobic interval exercise groups were significantly larger than those of the control group. [Conclusion] These results indicate that aerobic interval exercise may be an effective method of inducing hypertrophy and augmenting muscular strength in skeletal muscle.

  10. Sex differences in muscular load among house painters performing identical work tasks

    DEFF Research Database (Denmark)

    Meyland, Jacob; Heilskov-Hansen, Thomas; Alkjær, Tine

    2014-01-01

    PURPOSE: The present study aimed to estimate possible differences in upper body muscular load between male and female house painters performing identical work tasks. Sex-related differences in muscular load may help explain why women, in general, have more musculoskeletal complaints than men...... radialis muscles by surface electrodes. Relative muscular loads in %EMGmax as well as exerted force in Newton, based on ramp calibrations, were assessed. Sex differences were tested using a mixed model approach. RESULTS: Women worked at about 50% higher relative muscular loads than men in the supraspinatus...... and forearm muscles at all percentiles and in all tasks. Women exerted about 30% less force in the trapezius muscle at the 50th percentile. CONCLUSIONS: Female house painters had a higher relative muscular load than their male colleagues without exerting more force. The effects of a higher relative muscular...

  11. Anestesia em paciente com Distrofia Muscular de Duchenne: relato de caso Anestesia en paciente con Distrofia Muscular de Duchenne: relato de caso Anesthesia in Duchenne’s Muscular Dystrophy patient: case report

    OpenAIRE

    Deoclécio Tonelli; Iglair Pinho; Paula de Camargo Neves Sacco; Eduardo Piccinini Vianna; José Correia de Vasconcellos; Raquel Vasconcelos de Souza; Sidney Umakoshi

    2003-01-01

    JUSTIFICATIVA E OBJETIVOS: A distrofia muscular de Duchenne é uma afecção recessiva ligada ao cromossomo X, geralmente diagnosticada na infância, acentuando-se progressivamente até agravar a função respiratória. O objetivo deste relato é apresentar um caso de um paciente com distrofia muscular de Duchenne diagnosticada há 2 anos, submetido à postectomia, sob anestesia geral com cetamina S. RELATO DO CASO: Paciente com 9 anos de idade com Distrofia Muscular de Duchenne diagnosticada há 2 anos,...

  12. Effects of systemic hypoxia on human muscular adaptations to resistance exercise training

    OpenAIRE

    Kon, Michihiro; Ohiwa, Nao; Honda, Akiko; Matsubayashi, Takeo; Ikeda, Tatsuaki; Akimoto, Takayuki; Suzuki, Yasuhiro; Hirano, Yuichi; Russell, Aaron P.

    2015-01-01

    This study investigated the effect of resistance exercise training performed under systemic hypoxia or normoxia on biochemical and molecular muscular adaptations in healthy male subjects. Our findings demonstrate that resistance training under systemic hypoxia led not only to muscle hypertrophy, but most interestingly, to a greater increase in muscular endurance. This increase in muscular endurance was potentially caused by the increased angiogenesis as determined by capillary‐to‐fiber ratio....

  13. Animal Models for Muscular Dystrophy Show Different Patterns of Sarcolemmal Disruption

    OpenAIRE

    1997-01-01

    Genetic defects in a number of components of the dystrophin–glycoprotein complex (DGC) lead to distinct forms of muscular dystrophy. However, little is known about how alterations in the DGC are manifested in the pathophysiology present in dystrophic muscle tissue. One hypothesis is that the DGC protects the sarcolemma from contraction-induced damage. Using tracer molecules, we compared sarcolemmal integrity in animal models for muscular dystrophy and in muscular dystrophy patient samples. Ev...

  14. Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish

    OpenAIRE

    2006-01-01

    The muscular dystrophies are a heterogeneous group of genetically caused muscle degenerative disorders. The Kunkel laboratory has had a longstanding research program into the pathogenesis and treatment of these diseases. Starting with our identification of dystrophin as the defective protein in Duchenne muscular dystrophy (DMD), we have continued our work on normal dystrophin function and how it is altered in muscular dystrophy. Our work has led to the identification of the defective genes in...

  15. The Effect of Aging on Muscular Dynamics Underlying Movement Patterns Changes

    Science.gov (United States)

    Vernooij, Carlijn A.; Rao, Guillaume; Berton, Eric; Retornaz, Frédérique; Temprado, Jean-Jacques

    2016-01-01

    Introduction: Aging leads to alterations not only within the complex subsystems of the neuro-musculo-skeletal system, but also in the coupling between them. Here, we studied how aging affects functional reorganizations that occur both within and between the behavioral and muscular levels, which must be coordinated to produce goal-directed movements. Using unimanual reciprocal Fitts' task, we examined the behavioral and muscular dynamics of older adults (74.4 ± 3.7 years) and compared them to those found for younger adults (23.2 ± 2.0 years). Methods: To achieve this objective, we manipulated the target size to trigger a phase transition in the behavioral regime and searched for concomitant signatures of a phase transition in the muscular coordination. Here, muscular coordination was derived by using the method of muscular synergy extraction. With this technique, we obtained functional muscular patterns through non-negative matrix factorization of the muscular signals followed by clustering the resulting synergies. Results: Older adults showed a phase transition in behavioral regime, although, in contrast to young participants, their kinematic profiles did not show a discontinuity. In parallel, muscular coordination displayed two typical signatures of a phase transition, that is, increased variability of coordination patterns and a reorganization of muscular synergies. Both signatures confirmed the existence of muscular reorganization in older adults, which is coupled with change in dynamical regime at behavioral level. However, relative to young adults, transition occurred at lower index of difficulty (ID) in older participants and the reorganization of muscular patterns lasted longer (over multiple IDs). Discussion: This implies that consistent changes occur in coordination processes across behavior and muscle. Furthermore, the repertoire of muscular patterns was reduced and somewhat modified for older adults, relative to young participants. This suggests that

  16. Translational Studies of GALGT2 Gene Therapy for Duchenne Muscular Dystrophy

    Science.gov (United States)

    2014-10-01

    Therapy for Duchenne Muscular Dystrophy PRINCIPAL INVESTIGATOR: Paul T. Martin, PhD CONTRACTING ORGANIZATION: The Research Institute...for Duchenne Muscular Dystrophy 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-12-1-0416 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Paul T. Martin...translational studies in support of developing GALGT2 gene therapy for use in Duchenne Muscular dystrophy patients. In year 2, we have completed

  17. Atrofia de neurônios do plexo mientérico do íleo de ratos submetidos à intensa carência de proteínas=Atrophy of myenteric neurons in the ileum of rats submitted to severe protein deficiency

    Directory of Open Access Journals (Sweden)

    Débora de Mello Goncales Sant'Ana

    2012-04-01

    Full Text Available Objetivou-se avaliar os efeitos da oferta de uma dieta contendo 4% de proteínas para ratos adultos, quanto aos aspectos morfométricos do plexo mientérico do íleo. Vinte animais foram distribuídos aleatoriamente em dois grupos: Controle (n = 10 que receberam ração comercial com 26% de proteína e Experimental (n = 10 alimentados com ração com teor proteico reduzido para 4%, durante 90 dias. Neurônios do plexo mientérico do íleo presentes em preparados totais foram evidenciados por intermédio da técnica de Giemsa e da NADH-diaforase. Tanto a população neuronal total, assim como a subpopulação NADH-diaforase positiva sofreram atrofia com redução da área do pericário, do núcleo e do citoplasma.The effects of a 4%-protein diet in adult rats with respect to the morphometric aspects of the myenteric plexus in the ileum were assessed. Twenty animals were randomly divided into two groups: Control Group (n = 10, which received 26%-protein chow, and Experimental Group (n = 10, which received 4%-protein chow for 90 days. Neurons in the myenteric plexus in the ileum in whole mount were evidenced through Giemsa and NADH-diaphorase techniques. The overall neuronal population as well as the subpopulation positive for NADH diaphorase presented atrophy, with a reduction of the perikaryon, nucleus and cytoplasm.

  18. A case of hybrid closure of a muscular ventricular septal defect: anatomical complexity and surgical management.

    Science.gov (United States)

    Karimi, Mohsen; Hulsebus, Elise; Murdison, Kenneth; Wiles, Henry

    2012-06-01

    Complex muscular ventricular septal defect poses difficult surgical management and is associated with high morbidity and mortality despite advancements in surgical therapy. Device closure of muscular ventricular septal defect has been encouraging and has been used in hybrid approach at a few centres. However, device closure has some limitations in patients with complex muscular ventricular septal defect. We report a case of perventricular device closure of a complex muscular ventricular septal defect in a beating heart with entrapped right ventricular disc and its surgical management.

  19. Importância do camundongo mdx na fisiopatologia da distrofia muscular de Duchenne

    OpenAIRE

    Seixas,Sandra Lopes; Lagrota-Cândido,Jussara; Savino, Wilson; Quirico-Santos,Thereza

    1997-01-01

    O camundongo mdx desenvolve distrofia muscular recessiva ligada ao cromossoma X (locus Xp21.1) e não expressa distrofina. Embora não apresente intensa fibrose do tecido muscular e acúmulo de tecido adiposo, é considerado o modelo animal mais adequado da distrofia muscular de Duchenne. As alterações estruturais no tecido muscular associadas à mionecrose e presença do infiltrado inflamatório com predomínio de linfócitos e monócitos/macrófagos sugerem uma participação do sistema imunológico nest...

  20. Ullrich Congenital Muscular Dystrophy (UCMD: Clinical and Genetic Correlations

    Directory of Open Access Journals (Sweden)

    Bita BOZORGMEHR

    2013-08-01

    Full Text Available How to Cite This Article: Bozorgmehr B, Kariminejad A, Nafissi Sh, Jebelli B, Andoni U, Gartioux C, Ledeuil C, Allamand Y, Richard P, Kariminejad MH. Ullrich Congenital Muscular Dystrophy (UCMD:Clinical and Genetic Correlations. Iran J Child Neurol. 2013 Summer; 7(3: 15-22.  Objective:Ullrich congenital muscular dystrophy (UCMD corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI. We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance.Materials & MethodsFour unrelated Iranian families with six affected children with typical UCMD were analyzed for COLVI secretion in skin fibroblast culture and the secretion of COLVI in skin fibroblast culture using quantitative RT–PCR (Q-RT-PCR, and mutation identification was performed by sequencing of complementary DNA.ResultsCOL VI secretion was altered in all studied fibroblast cultures. Two affected sibs carried a homozygous nonsense mutation in exon 12 of COL6A2, while another patient had a large heterozygous deletion in exon 5-8 of COL6A2. The two other affected sibs had homozygote mutation in exon 24 of COL6A2, and the last one was homozygote in COL6A1.ConclusionIn this study, we found out variability in clinical findings and genetic inheritance among UCMD patients, so that the patient with complete absence of COLVI was severely affected and had a large heterozygous deletion in COL6A2. In contrast, the patients with homozygous deletion had mild to moderate decrease in the secretion of COL VI and were mildly tomoderately affected.References1. Voit T. Congenital Muscular Dystrophies Brain Dev 1998;20(2: 65-74.2. Ullrich OZ Ges. Scleroatonic Muscular Dystrophy. NeurolPsychiatr 1930;126:171-201.3. Ullrich O. Monatsschr. Kinderheilkd 1930;47:502-10.4. Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, et al. Collagen VI involvement in

  1. Importância do camundongo mdx na fisiopatologia da distrofia muscular de Duchenne The importance of mdx mouse in the pathophysiology of Duchenne's muscular distrophy

    Directory of Open Access Journals (Sweden)

    Sandra Lopes Seixas

    1997-09-01

    Full Text Available O camundongo mdx desenvolve distrofia muscular recessiva ligada ao cromossoma X (locus Xp21.1 e não expressa distrofina. Embora não apresente intensa fibrose do tecido muscular e acúmulo de tecido adiposo, é considerado o modelo animal mais adequado da distrofia muscular de Duchenne. As alterações estruturais no tecido muscular associadas à mionecrose e presença do infiltrado inflamatório com predomínio de linfócitos e monócitos/macrófagos sugerem uma participação do sistema imunológico nesta miopatia. Além disso a modulação na expressão dos componentes da matriz extracelular no microambiente muscular nas várias fases da doença (início, mionecrose, regeneração indicam um papel importante do conjuntivo no direcionamento das células inflamatórias para o foco da lesão muscular. O camundongo mdx coloca-se como um excelente modelo para o estudo dos mecanismos patogenéticos da mionecrose e regeneração na distrofia muscular de Duchenne, possibilitando inclusive o desenvolvimento de estratégias terapêuticas mais adequadas.The mdx mouse develop an X-linked recessive muscular dystrophy (locus Xp21.1 and lack dystrophin expression. Despite showing less intense myofibrosis and scarce deposition of fatty tissue, mdx mice are considered an adequate animal model for studies on the pathogenesis of Duchenne-type muscular dystrophy. Marked histological alterations in the muscular tissues associated to myonecrosis and inflammatory mononuclear cell infiltrate (lymphocytes, monocytes/macrophages suggest a participation of the immune system in this myopathy. Modulation of the extracellular matrix (ECM components in the muscular tissue during all phases (onset, myonecrosis and regeneration of disease, indicate an important role for the ECM driving inflammatory cells to the foci of lesion. Therefore mdx mice should be regarded as an important tool for studies on pathogenetic mechanisms of Duchenne-type muscular dystrophy. Such

  2. "Quantificação da força muscular e habilidades motoras de pacientes com distrofia muscular de Duchenne, em tratamento com corticoterapia"

    OpenAIRE

    Samara Lamounier Santana Parreira

    2005-01-01

    Em 32 pacientes com Distrofia Muscular de Duchenne, em corticoterapia, avaliou-se a evolução da força muscular, ao longo de 14 meses, mensalmente no primeiro semestre e a cada dois meses no segundo e terceiro semestre. Testes empregados: escala "Medical Research Council", Hammersmith "motor ability score", levantamento de peso cronometragem do tempo para manobra de Gowers e para percorrer 9 metros. O estudo revelou tendência de estabilidade da força muscular durante o acompanhamento e que par...

  3. Esclerodermia associada a atividade elétrica muscular continua

    Directory of Open Access Journals (Sweden)

    José Antonio Levy

    1965-12-01

    Full Text Available É relatado o caso de um paciente do sexo masculino, de 15 anos de idade, que apresentava dificuldade para movimentar os braços e para abrir a bôca, além de dispnéia, evoluindo lentamente há dois anos. O exame neurológico revelou hipertonia em todo o corpo, predominando em alguns grupos musculares que se achavam fortemente contraturados, obrigando o paciente a assumir atitudes anormais, impossibilitando-o, ainda, de abrir a bôca e de respirar livremente, dada a grande diminuição da expansibilidade torácica. O exame eletromiográfico revelou a presença de atividade muscular contínua, mesmo durante o repouso, caracterizada por descargas de alta freqüência, as quais persistiram após bloqueio anestésico de nervo periférico e após anestesia geral, sõmente sendo eliminados pelo curare. Com o diagnóstico de esclerodermia e de miosite, embora só a primeira dessas moléstias pudesse ser comprovada anátomo-patològicamente, o paciente foi tratado com corti-costeróides, tendo havido discreta melhora do quadro clínico, sobretudo em relação aos movimentos respiratórios e à abertura da bôca. Tendo, então, o conhecimento de dois casos semelhantes estudados por Isaacs em 1961, com o nome de síndrome da atividade contínua da fibra muscular, os quais haviam sido curados com o uso de hidantoinato de sódio, os autores empregaram esta mesma medicação, tendo verificado, após alguns dias, a diminuição acentuada da atividade anormal pelo exame eletromiográfico.

  4. Distrofia muscular congênita de Ullrich moderadamente progressiva

    Directory of Open Access Journals (Sweden)

    Gerson Carakushansky

    2012-02-01

    Full Text Available OBJETIVOS: Descrever características clínicas e genéticas da distrofia muscular congênita de Ullrich (DMCU, e relatar o caso de um paciente diagnosticado com DMCU após uma exaustiva investigação, que incluiu análise imuno-histoquímica e genômica do colágeno tipo VI. DESCRIÇÃO: Este estudo baseou-se na avaliação clínica e imuno-histoquímica do tecido muscular e na análise genômica dos fibroblastos dérmicos de um menino de 7 anos e meio, e do DNA dos seus pais. São discutidos aspectos clínicos e o diagnóstico diferencial com outras doenças. COMENTÁRIOS: O melhor conhecimento das distrofias musculares congênitas aumentará o número de diagnósticos corretos e abrirá novos horizontes para o tratamento dessas doenças. A avaliação genética dos pacientes com DMCU tem implicações relevantes para o prognóstico e o aconselhamento genético da família. É aconselhável divulgar essa doença na comunidade pediátrica, devido ao início precoce das manifestações clínicas e o fato de ser frequentemente mal diagnosticada ou não ser diagnosticada.

  5. Inspiratory flow reserve in boys with Duchenne muscular dystrophy.

    Science.gov (United States)

    De Bruin, P F; Ueki, J; Bush, A; Y Manzur, A; Watson, A; Pride, N B

    2001-06-01

    Patients with advanced muscular dystrophy frequently develop ventilatory failure. Currently respiratory impairment usually is assessed by measuring vital capacity and the mouth pressure generated during a maximal inspiratory maneuver (PI,max), neither of which directly measures ventilatory capacity. We assessed inspiratory flow reserve in 26 boys [mean (SD) age 12.8 (3.8) years] with Duchenne muscular dystrophy (DMD) without ventilatory failure and in 28 normal boys [mean (SD) age 12.6 (1.9) years] by analyzing the ratio between the largest inspiratory flow during tidal breathing (V'I,max(t)) and during a forced vital capacity maneuver (V'I,max(FVC), (V'I,max(t)/V'I,maxFVC). We have compared this ratio with the forced vital capacity FVC and PI,max measured at functional residual capacity. Mean PI,max was -90(30)cmH2O, average 112% (range 57-179%) of predicted values in control boys and -31(11)cmH2O, average 40% predicted values in DMD boys (control vs DMD, P ratio was higher in DMD 0.22 (0.08) than in controls 0.12 (0.03) (P reserve in DMD. Inspiratory flow reserve was within the normal range in 8 of 19 DMD patients with PI,max less than 50% of predicted values. We conclude that measurement of inspiratory flow reserve (V'I,max(t)/V'I,maxFVC ratio) provides a simple and direct assessment of dynamic inspiratory muscle function which is not replicated by static measurement of PI,max or vital capacity and might be useful in assessment of respiratory impairment in boys with Duchenne muscular dystrophy. Follow-up studies are required to establish whether measures of inspiratory flow reserve are of clinical value in predicting subsequent ventilatory failure.

  6. The electromyographic DC potential as a correlate of muscular activity.

    Science.gov (United States)

    Trimmel, M; Streicher, F; Groll-Knapp, E; Haider, M

    1989-01-01

    The present experiment was undertaken to demonstrate the effect of muscular force as well as duration of muscular work on the electromyographic (EMG) DC potential. Thirty subjects had to lift different weights by flexing the right forearm within a defined and constant setting for 20 s. The experimental variables were weight (0.5, 1, 2, and 3 kg) and time. The EMG was recorded from the belly of the right biceps brachii muscle in a quasi-unipolar manner and split into an integrated ac channel (IEMG) and a dc channel (DC-EMG). The average IEMG showed a ramp-like shape. Analysis showed a positive relationship for weight (p less than 0.0001) and time (p less than 0.0001) with the IEMG. The average shape of the DC-EMG showed a negative initiation potential, a monotonically increasing negative potential during contraction (contraction potential), a positively peaking off potential and a slow return to baseline (after potential). Analyses of variance demonstrated a significant (p less than 0.001) relationship of weight to the magnitude of the initiation and the termination potential. Regression analyses displayed an inverse relationship of time to the termination (p less than 0.01) and to the resolution potential (p less than 0.001). The DC-EMG showed higher peaks (initiation and termination potential) for heavier weights. For the termination and after potential less positive deflections were found with increasing time (fatigue). A control condition (isometric contraction) indicated that the initiation, contraction, and termination potential of the DC-EMG may also be related to aspects of the movement. Results suggest that the DC-EMG is a more complex measure of muscular activity than the IEMG.

  7. Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages.

    Science.gov (United States)

    Siciliano, Gabriele; Simoncini, Costanza; Giannotti, Stefano; Zampa, Virna; Angelini, Corrado; Ricci, Giulia

    2015-05-01

    Different genetic mutations underlying distinct pathogenic mechanisms have been identified as cause of muscle fibers degeneration and strength loss in limb girdle muscular dystrophies (LGMD). As a consequence, exercise tolerance is affected in patients with LGMD, either as a direct consequence of the loss of muscle fibers or secondary to the sedentary lifestyle due to the motor impairment. It has been debated for many years whether or not muscle exercise is beneficial or harmful for patients with myopathic disorders. In fact, muscular exercise would be considered in helping to hinder the loss of muscle tissue and strength. On the other hand, muscle structural defects in LGMD can result in instability of the sarcolemma, making it more likely to induce muscle damage as a consequence of intense muscle contraction, such as that performed during eccentric training. Several reports have suggested that supervised aerobic exercise training is safe and may be considered effective in improving oxidative capacity and muscle function in patients with LGMD, such as LGMD2I, LGMD2L, LGMD2A. More or less comfortable investigation methods applied to assess muscle function and structure can be useful to detect the beneficial effects of supervised training in LGMD. However, it is important to note that the available trials assessing muscle exercise in patients with LGMD have often involved a small number of patients, with a wide clinical heterogeneity and a different experimental design. Based on these considerations, resistance training can be considered part of the rehabilitation program for patients with a limb-girdle type of muscular dystrophy, but it should be strictly supervised to assess its effects and prevent possible development of muscle damage.

  8. Estudo da resistência do tendão do supra-espinal com pontos simples, duplos e Mason Allen Study on the resistance of the supraspinous tendon using simple, matress and mason allen stitches

    Directory of Open Access Journals (Sweden)

    Roberto Yukio Ikemoto

    2010-01-01

    Full Text Available OBJETIVO: O objetivo do trabalho foi comparar a resistência entre os pontos simples, duplo e Mason-Allen modificado, utilizados para o reparo do manguito rotador, e verificar se há diferença significativa que justifique a utilização do ponto do tipo Mason-Allen modificado ao invés dos pontos simples ou duplo. MÉTODO: Retiramos tendões do músculo supra-espinal de 15 cadáveres humanos frescos (30 ombros, com a média de idade de 45 anos. Os testes foram realizados na máquina universal de ensaio mecânico Kratos® 500/2000 e os resultados submetidos aos testes estatísticos de t-student, análise de variância (ANOVA, comparação múltipla de Bonferroni e calculadas as correlações de Pearson. Os testes foram realizados ao nível de significância de 5%. RESULTADOS: Não houve diferença significativa com relação à idade, ao tamanho das amostras e deslocamento do tendão. A resistência variou com média de 127,50 N com o ponto simples, 163,95 N com o duplo e com o ponto de Mason-Allen modificado esta foi de 198,45 N. CONCLUSÃO: não existe diferença da resistência no tendão quanto à falha na interface sutura - tendão comparando-se o ponto duplo com o Mason-Allen modificado e os pontos simples e duplo, porém há diferença quando comparados os pontos simples e Mason-Allen modificado.OBJECTIVE: The purpose of this study was to compare the rotator cuff tendon resistance at the interface tendon-suture using three different sorts of stitches (simple, mattress and modified Mason-Allen. METHODS: To do this, 30 rotator cuffs were totally dissected from 15 specimens, which were 45 years old on average. The tests were done using a Kratos® 500/2000 machine and the statistical analyses applied were the Student t-test, ANOVA test, Multiple Bonferroni Comparison, and Pearson's correlation coefficients; all the analyses used a significance level of 5%. RESULTS: No significant difference was observed regarding the age, sample sizes and

  9. Cellular Therapies for Muscular Dystrophies: Frustrations and Clinical Successes.

    Science.gov (United States)

    Negroni, Elisa; Bigot, Anne; Butler-Browne, Gillian S; Trollet, Capucine; Mouly, Vincent

    2016-02-01

    Cell-based therapy for muscular dystrophies was initiated in humans after promising results obtained in murine models. Early trials failed to show substantial clinical benefit, sending researchers back to the bench, which led to the discovery of many hurdles as well as many new venues to optimize this therapeutic strategy. In this review we summarize progress in preclinical cell therapy approaches, with a special emphasis on human cells potentially attractive for human clinical trials. Future perspectives for cell therapy in skeletal muscle are discussed, including the perspective of combined therapeutic approaches.

  10. Antisense mediated exon skipping therapy for duchenne muscular dystrophy (DMD)

    DEFF Research Database (Denmark)

    Brolin, Camilla; Shiraishi, Takehiko

    2011-01-01

    Duchenne Muscular Dystrophy (DMD) is a lethal disease caused by mutations in the dystrophin gene (DMD) that result in the absence of essential muscle protein dystrophin. Among many different approaches for DMD treatment, exon skipping, mediated by antisense oligonucleotides, is one of the most...... promising methods for restoration of dystrophin expression. This approach has been tested extensively targeting different exons in numerous models both in vitro and in vivo. During the past 10 years, there has been a considerable progress by using DMD animal models involving three types of antisense...

  11. Roturas tendinosas y musculares en el hombro del deportista

    OpenAIRE

    Sanchis, V.; Gastaldi Orquin, E.; Ferrando, F; Diago, T.; Deltoro López, A.

    1991-01-01

    El complejo articular del hombro está sometido a solicitaciones mecánicas en la mayoría de las modalidades deportivas; así el 10-15% de los traumatismos sufridos por los atletas afectan a esta articulación (1). La "patología reina" del hombro del deportista es la inestabilidad, por su frecuencia, importantes implicaciones funcionales y tratamiento problemático. Por el contrario, las roturas musculares y tendinosas del hombro son lesiones poco frecuentes en el dep...

  12. Neuropathology and Therapeutic Intervention in Spinal and Bulbar Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Haruhiko Banno

    2009-03-01

    Full Text Available Spinal and bulbar muscular atrophy (SBMA is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR. The histopathological finding in SBMA is loss of lower motor neurons in the anterior horn of the spinal cord as well as in the brainstem motor nuclei. Animal studies have revealed that the pathogenesis of SBMA depends on the level of serum testosterone, and that androgen deprivation mitigates neurodegeneration through inhibition of nuclear accumulation of the pathogenic AR. Heat shock proteins, ubiquitin-proteasome system and transcriptional regulation are also potential targets of therapy development for SBMA.

  13. El lactato como posible factor del mecanismo de fatiga muscular.

    OpenAIRE

    José Carlos Giraldo T.; María Elena Sánchez

    2009-01-01

    Se revisa el papel del lactato en la función muscular. Se destacan los siguientes conceptos: el lactato es un intermediario metabólico que aumenta durante el ejercicio de alta intensidad, como consecuencia de la elevada actividad glicolítica. En esas condiciones la formación de ATP se asocia con generación de iones lactato e H+ y se reduce el pH de la célula activa. Si hay fatiga, el aumento en los niveles de lactato se correlaciona con la magnitud en la caída de la fuerza y los niveles de la...

  14. El lactato como posible factor del mecanismo de fatiga muscular.

    Directory of Open Access Journals (Sweden)

    José Carlos Giraldo T.

    2009-10-01

    Full Text Available Se revisa el papel del lactato en la función muscular. Se destacan los siguientes conceptos: el lactato es un intermediario metabólico que aumenta durante el ejercicio de alta intensidad, como consecuencia de la elevada actividad glicolítica. En esas condiciones la formación de ATP se asocia con generación de iones lactato e H+ y se reduce el pH de la célula activa. Si hay fatiga, el aumento en los niveles de lactato se correlaciona con la magnitud en la caída de la fuerza y los niveles de lactato alcanzados a un determinado nivel de actividad dependen del tipo de la fibra muscular. La salida de lactato de la fibra ocurre principalmente por 3 mecanismos de los cuales el más importante es el cotransporte acoplado de lactato-H+, cuya actividad depende del tipo de fibra y del patrón de activación así como del pH y de la concentración del amortiguador (buffer externos. De los varios factores responsables de la fatiga muscular, la disminución de pH se ha señalado como uno de los más importantes. No obstante, a pesar de la relación entre fatiga muscular y disminución de pHi, ésta no parece ser suficiente para explicar el grado de reducción de la fuerza durante la fatiga. Recientemente se han realizado experimentos que muestran un efecto inhibidor del lactato sobre el canal de liberación de calcio del retículo sarcoplásmico, lo que sugiere fuertemente que el lactato per se, y no necesariamente el cambio de pHi asociado, puede jugar un papel importante en el mecanismo de la fatiga. Por otra parte, el lactato podría tener efecto benéfico en la recuperación de la fuerza tetánica y de la capacidad de mantener la fase de meseta durante el tétanos, que se reducen por efecto de la fatiga. Asimismo, el aumento de lactato podría jugar un papel protector de la fibra durante la fatiga, mediante la activación de los canales de K+ sensibles a ATP. El músculo produce y consume lactato y al aumentar sus niveles en la sangre, este ion lo

  15. Evaluacion del factor central y periferico en fatiga muscular

    OpenAIRE

    Marcela E. Panizza; Cohen, L.G.; Olga P. Sanz; R. Rey; Schutz, C

    1983-01-01

    Se estúdio la fatiga muscular en 13 sujetos normales; para ello, fueron sometidos a un esfuerzo sostenido durante 10 minutos previo y posterior, al cual se realizo la medición de la onda M máxima. Durante el esfuerzo y cada 2 minutos, se obtuvieron cuantificaciones de la frecuencia y duración de las ondas positivas y negativas del EMG. Los resultados, mostraron diferencias significativas de estos valores, en función del tiempo de esfuerzo realizado, mientras que las mediciones de la onda M má...

  16. Distrofia muscular oculofaríngea: Tratamiento quirúrgico

    OpenAIRE

    DÍAZ DE LIAÑO A,ALVARO; FERNÁNDEZ R,LORANS; YÁRNOZ I,CONCEPCIÓN; ARTIEDA S,CRISTINA; GONZÁLEZ A,GREGORIO; ARTAJONA R,ALICIA; ORTIZ H,HÉCTOR

    2009-01-01

    La distrofia muscular oculofaríngea (DMOF) es una enfermedad de carácter hereditario, que cursa con disfagia, ptosis palpebral y debilidad proximal de las extremidades. Para su valoración la realización de manometría y estudio radiológico contrastado pueden ser de gran utilidad a pesar de que el diagnóstico de seguridad se obtiene por el estudio genético del gen PABPN1 del cromosoma 14. La enfermedad se desarrolla al sufrir este gen pequeñas expansiones en el triplete (GCG)7-13. Presentamos d...

  17. Aportaciones de la biopsia muscular al entrenamiento deportivo

    OpenAIRE

    Subiela, J.V.; Torres, S.H.

    2010-01-01

    La biopsia muscular por aguja es una técnica bastante asequible, que ha permitido conocer las características de los diferentes tipos de fibras del músculo esquelético, su potencial metabólico y su gran capacidad de adaptación a los distintos estímulos de entrenamiento. Aunque el modelo de distribución de las fibras en los distintos músculos parece estar determinado genéticamente, se ha observado la transformación reversible de los tipos de fibras pertenecientes a un mismo músculo, inducida por ...

  18. Desirability of early identification of Duchenne Muscular Dystrophy (DMD): parent’s experiences of the period prior to diagnosis.

    NARCIS (Netherlands)

    Eilers, R.; Kleinveld, J.H.; Vroom, E.; Westerman, M.J.; Plass, A.M.C.

    2012-01-01

    Duchenne Muscular Dystrophy (DMD), X-linked recessively inherited, is the most common progressive muscular disorder in children. Early diagnosis could offer opportunities for timely initiation of treatment possibilities, genetic counselling, and prevent a long diagnostic quest. Despite the availabil

  19. Effect of sildenafil on skeletal and cardiac muscle in Becker muscular dystrophy

    DEFF Research Database (Denmark)

    Witting, Nanna; Kruuse, Christina; Nyhuus, Bo

    2014-01-01

    OBJECTIVE: Patients with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy lack neuronal nitric oxide synthase (nNOS). nNOS mediates physiological sympatholysis, thus ensuring adequate blood supply to working muscle. In mice lacking dystrophin, restoration of nNOS effects by a phosp...

  20. Effects of Three Resistance Training Programs on Muscular Strength and Absolute and Relative Endurance.

    Science.gov (United States)

    Anderson, Tim; Kearney, Jay T.

    1982-01-01

    The effects of three resistance training programs on male college students' muscular strength and absolute and relative muscular endurance were investigated. Results show that human skeletal muscle makes both general and specific adaptations to a training stimulus, and that the balance of these adaptations is to some extent dependent upon the…

  1. Miyoshi-type distal muscular dystrophy - Clinical spectrum in 24 Dutch patients

    NARCIS (Netherlands)

    Linssen, WHJP; Notermans, NC; VanderGraaf, Y; Wokke, JHJ; VanDoorn, PA; Howeler, CJ; Busch, HFM; DeJager, AEJ; DeVisser, M

    1997-01-01

    Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings. Ou

  2. Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic calves

    NARCIS (Netherlands)

    Groen, R J; Sie, O G; van Weerden, T W

    1993-01-01

    The clinical, electrophysiological, radiological and morphological data of 3 members of a family with autosomal dominant distal spinal muscular atrophy (DSMA) are reported. One patient has the clinical picture of peroneal muscular atrophy with atrophic calves. His father and sister suffer from cramp

  3. Investigation of Poor Academic Achievement in Children with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Hinton, V. J.; De Vivo, D. C.; Fee, R.; Goldstein, E.; Stern, Y.

    2004-01-01

    Duchenne Muscular Dystrophy (DMD) is a neurogenetic developmental disorder that presents with progressive muscular weakness. It is caused by a mutation in a gene that results in the absence of specific products that normally localize to muscle cells and the central nervous system (CNS). The majority of affected individuals have IQs within the…

  4. The Relationship between Selected Body Composition Variables and Muscular Endurance in Women

    Science.gov (United States)

    Esco, Michael R.; Olson, Michele S.; Williford, Henry N.

    2010-01-01

    The primary purpose of this study was to determine if muscular endurance is affected by referenced waist circumference groupings, independent of body mass and subcutaneous abdominal fat, in women. This study also explored whether selected body composition measures were associated with muscular endurance. Eighty-four women were measured for height,…

  5. Structure and function of masticatory muscles in a case of muscular dystrophy

    DEFF Research Database (Denmark)

    Bakke, M; Kirkeby, S; Jensen, B L

    1990-01-01

    depressor strength corresponded more to reference values. This difference of muscular wasting might be caused by protective enzymes in the digastric muscle and/or functionally induced damage of the masseter. As affection from muscular dystrophy may vary greatly between the masticatory muscles, structural...

  6. Clinical genetic aspects of Duchenne and Becker muscular dystrophy in the Netherlands

    NARCIS (Netherlands)

    Helderman-van den Enden, Apollonia Theodora Josina Maria

    2012-01-01

    Dystrophinopathies include the well known Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). This thesis is a collection of several clinical and genetic studies on dystrophinopathies with implications for genetic counselling of patients and their families and for future therapy (

  7. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

    DEFF Research Database (Denmark)

    Gavassini, Bruno F; Carboni, Nicola; Nielsen, Jørgen E;

    2011-01-01

    In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations.......In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations....

  8. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    van Westrum, S. M. Schade; Hoogerwaard, E. M.; Dekker, L.; Standaar, T. S.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; van Essen, A. J.; Leschot, N. J.; Wilde, A. A. M.; de Haan, R. J.; de Visser, M.; van der Kooi, A. J.

    2011-01-01

    Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated cardio

  9. Meeting the Assistive Technology Needs of Students with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Heller, Kathryn Wolff; Mezei, Peter J.; Avant, Mary Jane Thompson

    2009-01-01

    Students with Duchenne muscular dystrophy (DMD) have a degenerative disease that requires ongoing changes in assistive technology (AT). The AT team needs to be knowledgeable about the disease and its progression in order to meet these students' changing needs in a timely manner. The unique needs of students with Duchenne muscular dystrophy in…

  10. Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles

    NARCIS (Netherlands)

    G. Tasca (Giorgio); M. Pescatori (Mario); M. Monforte (Mauro); M. Mirabella (Massimiliano); E. Iannaccone (Elisabetta); R. Frusciante (Roberto); T. Cubeddu (Tiziana); F. Laschena (Francesco); P. Ottaviani (Pierfrancesco); E. Ricci (Enzo)

    2012-01-01

    textabstractBackground: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions. By muscle Magnetic Resonance Imaging (MRI) we observed that T2-short tau

  11. Cortico-muscular coupling in a patient with postural myoclonus.

    Science.gov (United States)

    Kristeva, Rumyana; Popa, Traian; Chakarov, Vihren; Hummel, Sibylla

    2004-08-19

    We investigated the cortico-muscular coherence in a patient with posturally induced cortically originating negative myoclonus. We recorded simultaneously 50 channels EEG and EMG from quadriceps and biceps femoris muscles of the left upper leg. Three experimental conditions were investigated with the patient in a seated position: (i) recording during rest (Rest), (ii) recording while the patient had to hold his left leg horizontally stretched out (Postural), and (iii) recording while the patient had to hold his left leg horizontally stretched out against a vertical force (Postural against force). Coherence, phase difference and cumulant density were computed as indicators for cortico-muscular coupling. The cortical component preceding the silent period was shown by averaging and was reconstructed. During postural and postural against force conditions, the EEG over the vertex was significantly coherent with EMG, in alpha (7-15 Hz) and beta range (15-30 Hz). The strongest coherence peak was at 21 Hz. No high-frequency coherence was observed. The phase difference and the cumulant density estimate corresponded to a 32 ms time lag between motor cortex and muscles, with EEG leading. The broadening of the coherence spectrum at which the motor cortex drives the muscles together with the excessive coherence levels and the giant SEP could reflect the hyperexcitability of the sensorimotor cortex. The frequency content of the coherence may be characteristic for this type of myoclonus. The results lend support to the view that the frequency analysis may have some diagnostic potential in cortical myoclonus.

  12. Neurotrophins, cytokines, oxidative parameters and funcionality in Progressive Muscular Dystrophies

    Directory of Open Access Journals (Sweden)

    CLARISSA M. COMIM

    2015-09-01

    Full Text Available We investigated the levels of brain derived-neurotrophic factor (BDNF, cytokines and oxidative parameters in serum and tried to correlate them with the age and functionality of patients with Progressive Muscle Dystrophies (PMD. The patients were separated into six groups (case and controls pared by age and gender, as follows: Duchenne Muscular Dystrophy (DMD; Steinert Myotonic Dystrophy (SMD; and Limb-girdle Muscular Dystrophy type-2A (LGMD2A. DMD patients (±17.9 years old had a decrease of functionality, an increase in the IL-1β and TNF-α levels and a decrease of IL-10 levels and superoxide dismutase activity in serum. SMD patients (±25.8 years old had a decrease of BDNF and IL-10 levels and superoxide dismutase activity and an increase of IL-1β levels in serum. LGMD2A patients (±27.7 years old had an decrease only in serum levels of IL-10. This research showed the first evidence of BDNF involvement in the SMD patients and a possible unbalance between pro-inflammatory and anti-inflammatory cytokine levels, along with decreased superoxide dismutase activity in serum of DMD and SMD patients.

  13. Muscular condition monitoring system using fiber bragg grating sensors

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Heon Young; Lee, Jin Hyuk; Kim, Dae Hyun [Seoul National University of Technology, Seoul (Korea, Republic of)

    2014-10-15

    Fiber optic sensors (FOS) have advantages such as electromagnetic interference (EMI) immunity, corrosion resistance and multiplexing capability. For these reasons, they are widely used in various condition monitoring systems (CMS). This study investigated a muscular condition monitoring system using fiber optic sensors (FOS). Generally, sensors for monitoring the condition of the human body are based on electro-magnetic devices. However, such an electrical system has several weaknesses, including the potential for electro-magnetic interference and distortion. Fiber Bragg grating (FBG) sensors overcome these weaknesses, along with simplifying the devices and increasing user convenience. To measure the level of muscle contraction and relaxation, which indicates the muscle condition, a belt-shaped FBG sensor module that makes it possible to monitor the movement of muscles in the radial and circumferential directions was fabricated in this study. In addition, a uniaxial tensile test was carried out in order to evaluate the applicability of this FBG sensor module. Based on the experimental results, a relationship was observed between the tensile stress and Bragg wavelength of the FBG sensors, which revealed the possibility of fabricating a muscular condition monitoring system based on FBG sensors.

  14. Motor assessment in patients with Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Gabriela Palhares Campolina Diniz

    2012-06-01

    Full Text Available OBJECTIVE: Evaluate muscle force and motor function in patients with Duchenne muscular dystrophy (DMD in a period of six months. METHOD: Twenty children and adolescents with diagnosis of DMD were evaluated trough: measurement of the strength of the flexors and extensors of the shoulder, elbow, wrist, knee and ankle through the Medical Research Council (MRC, and application of the Motor Function Measure (MFM. The patients were evaluated twice within a six-month interval. RESULTS: Loss of muscle strength was identified in the MRC score for upper proximal members (t=-2.17, p=0.04. In the MFM, it was noted significant loss in the dimension 1 (t=-3.06, p=0.006. Moderate and strong correlations were found between the scores for muscular strength and the MFM dimensions. CONCLUSION: The MFM scale was a useful instrument in the follow up of patients with DMD. Moreover, it is a more comprehensive scale to assess patients and very good for conducting trials to evaluate treatment.

  15. Numerical modelling of crural fascia mechanical interaction with muscular compartments.

    Science.gov (United States)

    Pavan, Piero G; Pachera, Paola; Natali, Arturo N

    2015-05-01

    The interaction of the crural fascia with muscular compartments and surrounding tissues can be at the origin of different pathologies, such as compartment syndrome. This pathology consists in the onset of excessive intracompartmental pressure, which can have serious consequences for the patient, compromising blood circulation. The investigation of compartment syndrome etiology also takes into account the alteration of crural fascia mechanical properties as a cause of the syndrome, where the fascial stiffening would result in the rise of intracompartmental pressure. This work presents a computational approach toward evaluating some biomechanical aspects of the problem, within the context of a more global viewpoint. Finite element analyses of the interaction phenomena of the crural fascia with adjacent regions are reported here. This study includes the effects of a fascial stiffness increase along the proximal-distal direction and their possible clinical implications. Furthermore, the relationship between different pre-strain levels of the crural fascia in the proximal-distal direction and the rise of internal pressure in muscular compartments are considered. The numerical analyses can clarify which aspects could be directly implied in the rise of compartment syndrome, leading to greater insight into muscle-fascia mechanical phenomena, as well as promoting experimental investigation and clinical analysis of the syndrome.

  16. Dystrophin in frameshift deletion patients with Becker Muscular Dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Gangopadhyay, S.B.; Ray, P.N.; Worton, R.G.; Sherratt, T.G.; Heckmatt, J.Z.; Dubowitz, V.; Strong, P.N.; Miller, G. (Penn State College of Medicine, Hershey, PA (United States)); Shokeir, M. (Univ. Hospital, Saskatchewan (Canada))

    1992-09-01

    In a previous study the authors identified 14 cases with Duchenne muscular dystrophy (DMD) or its milder variant, Becker muscular dystrophy (BMD), with a deletion of exons 3-7, a deletion that would be expected to shift the translational reading frame of the mRNA and give a severe phenotype. They have examined dystrophin and its mRNA from muscle biopsies of seven cases with either mild or intermediate phenotypes. In all cases they detected slightly lower-molecular-weight dystrophin in 12%-15% abundance relative to the normal. By sequencing amplified mRNA they have found that exon 2 is spliced to exon 8, a splice that produces a frameshifted mRNA, and have found no evidence for alternate splicing that might be involved in restoration of dystrophin mRNA reading frame in the patients with a mild phenotype. Other transcriptional and posttranscriptional mechanisms such as cryptic promoter, ribosomal frameshifting, and reinitiation are suggested that might play some role in restoring the reading frame. 34 refs., 5 figs. 1 tab.

  17. Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Melinda F. Davis

    2010-10-01

    Full Text Available Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy, respiratory equipment (assisted ventilation, cough assist devices, and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds. The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI: 10.2458/azu_jmmss.v1i1.76

  18. Drugs in development and dietary approach for Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Angelini C

    2015-08-01

    Full Text Available Corrado Angelini, Elisabetta Tasca Neuromuscular Laboratory, Fondazione San Camillo Hospital IRCCS, Venice, Italy Abstract: Therapeutic trials studying Duchenne muscular dystrophy (DMD in Europe and the USA have been done using a protocol that includes manual muscle testing and functional testing, and have shown the efficacy of steroid drugs in various doses and regimens. Further, drisapersen and eteplirsen (exon skipping drugs and ataluren (a drug to overcome stop codon mutations have achieved some clinical improvement. Cardioprotective drugs are efficacious in DMD, and eplerenone, an aldosterone inhibitor and diuretic, is now being used to treat the disease. The dietary approach should be used in wheelchair-bound DMD children in combination with respiratory assistance. The importance of some of the treatments proposed is that they might also be useful in other genetic disorders where stop codon mutations are present; moreover, it is possible that these new treatments will improve quality of life for many patients. Keywords: Duchenne muscular dystrophy, steroids, ataluren, drisapersen, eplerenone, eteplirsen

  19. Reassessing the improbability of a muscular crinoid stem

    Science.gov (United States)

    Gorzelak, Przemysław; Głuchowski, Edward; Salamon, Mariusz A.

    2014-08-01

    Muscular articulations in modern stalked crinoids are only present in the arms. Although it has been suggested that certain coiled-stemmed fossil taxa may have been functionally adapted to utilize muscles, evidence supporting this interpretation is lacking. Here, we use cathodoluminescence and SEM to reveal the skeletal microstructure of the enigmatic coiled-stemmed taxon Ammonicrinus (Flexibilia). Based on the well-established link between skeletal microstructure and the nature of infilling soft tissues in modern echinoderms, we reconstructed the palaeoanatomy of the Middle Devonian ammonicrinids. We show that their median columnals with elongated lateral columnal enclosure extensions (LCEE) have stereom microstructure unexpectedly resembling that in the crinoid muscular arm plates. In particular, large ligamentary facets, that are present on each side of a transverse ridge, are mainly comprised of fine galleried stereom that is indicative of the mutable collagenous tissues. In contrast, fine labyrinthic stereom, commonly associated with muscles, is situated in the periphery on each side of the surface of elongated LCEE. Our findings thus strongly suggest that the muscles may have also been present in the stem of ammonicrinids. These results reassess the previous hypotheses about evolution of muscles in crinoids and provide new insights into the mode of life of Ammonicrinus.

  20. Identification of muscle-specific microRNAs in serum of muscular dystrophy animal models: promising novel blood-based markers for muscular dystrophy.

    Directory of Open Access Journals (Sweden)

    Hideya Mizuno

    Full Text Available Duchenne muscular dystrophy (DMD is a lethal X-linked disorder caused by mutations in the dystrophin gene, which encodes a cytoskeletal protein, dystrophin. Creatine kinase (CK is generally used as a blood-based biomarker for muscular disease including DMD, but it is not always reliable since it is easily affected by stress to the body, such as exercise. Therefore, more reliable biomarkers of muscular dystrophy have long been desired. MicroRNAs (miRNAs are small, ∼22 nucleotide, noncoding RNAs which play important roles in the regulation of gene expression at the post-transcriptional level. Recently, it has been reported that miRNAs exist in blood. In this study, we hypothesized that the expression levels of specific serum circulating miRNAs may be useful to monitor the pathological progression of muscular diseases, and therefore explored the possibility of these miRNAs as new biomarkers for muscular diseases. To confirm this hypothesis, we quantified the expression levels of miRNAs in serum of the dystrophin-deficient muscular dystrophy mouse model, mdx, and the canine X-linked muscular dystrophy in Japan dog model (CXMD(J, by real-time PCR. We found that the serum levels of several muscle-specific miRNAs (miR-1, miR-133a and miR-206 are increased in both mdx and CXMD(J. Interestingly, unlike CK levels, expression levels of these miRNAs in mdx serum are little influenced by exercise using treadmill. These results suggest that serum miRNAs are useful and reliable biomarkers for muscular dystrophy.

  1. Biological, Psychological, and Sociocultural Factors Contributing to the Drive for Muscularity in Weight-Training Men

    Science.gov (United States)

    Schneider, Catharina; Rollitz, Laura; Voracek, Martin; Hennig-Fast, Kristina

    2016-01-01

    The drive for muscularity and associated behaviors (e.g., exercising and dieting) are of growing importance for men in Western societies. In its extreme form, it can lead to body image concerns and harmful behaviors like over-exercising and the misuse of performance-enhancing substances. Therefore, investigating factors associated with the drive for muscularity, especially in vulnerable populations like bodybuilders and weight trainers can help identify potential risk and protective factors for body image problems. Using a biopsychosocial framework, the aim of the current study was to explore different factors associated with drive for muscularity in weight-training men. To this purpose, German-speaking male weight trainers (N = 248) completed an online survey to determine the extent to which biological, psychological, and sociocultural factors contribute to drive for muscularity and its related attitudes and behaviors. Using multiple regression models, findings showed that media ideal body internalization was the strongest positive predictor for drive for muscularity, while age (M = 25.9, SD = 7.4) held the strongest negative association with drive for muscularity. Dissatisfaction with muscularity, but not with body fat, was related to drive for muscularity. The fat-free mass index, a quantification of the actual degree of muscularity of a person, significantly predicted drive for muscularity-related behavior but not attitudes. Body-related aspects of self-esteem, but not global self-esteem, were significant negative predictors of drive for muscularity. Since internalization of media body ideals presented the highest predictive value for drive for muscularity, these findings suggest that media body ideal internalizations may be a risk factor for body image concerns in men, leading, in its most extreme form to disordered eating or muscle dysmorphia. Future research should investigate the relations between drive for muscularity, age, body composition

  2. Gaming magazines and the drive for muscularity in preadolescent boys: a longitudinal examination.

    Science.gov (United States)

    Harrison, Kristen; Bond, Bradley J

    2007-09-01

    The development of a drive for muscularity among boys has been linked to various cultural influences, one of which is exposure to mass media depicting the muscular male body ideal. We sought to determine whether self-reported exposure to four ideal-body magazine genres (health/fitness, fashion, sports, and gaming) predicted an increased drive for muscularity 1 year later. A sample of 104 Black and 77 White preadolescent boys (mean age 8.77) participated in a 2-wave longitudinal panel study. Controlling Wave 1 grade, perceived thinness/adiposity, and drive for muscularity, exposure to video gaming magazines predicted a significant increase in Wave 2 drive for muscularity, but only for White boys. Discussion calls for the inclusion of video gaming magazine exposure measures in future research on print media and male body ideals, along with empirical exploration of racial themes in gaming magazines.

  3. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

    Directory of Open Access Journals (Sweden)

    Ana Cotta

    2014-09-01

    Full Text Available Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.

  4. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

    Science.gov (United States)

    Cotta, Ana; Carvalho, Elmano; da-Cunha-Júnior, Antonio Lopes; Paim, Júlia Filardi; Navarro, Monica M; Valicek, Jaquelin; Menezes, Miriam Melo; Nunes, Simone Vilela; Xavier Neto, Rafael; Takata, Reinaldo Issao; Vargas, Antonio Pedro

    2014-09-01

    Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.

  5. Developmental Defects in a Zebrafish Model for Muscular Dystrophies Associated with the Loss of Fukutin-Related Protein (FKRP)

    Science.gov (United States)

    Thornhill, Paul; Bassett, David; Lochmuller, Hanns; Bushby, Kate; Straub, Volker

    2008-01-01

    A number of muscular dystrophies are associated with the defective glycosylation of [alpha]-dystroglycan and many are now known to result from mutations in a number of genes encoding putative or known glycosyltransferases. These diseases include severe forms of congenital muscular dystrophy (CMD) such as Fukuyama type congenital muscular dystrophy…

  6. Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy*,**

    Science.gov (United States)

    Marques, Tanyse Bahia Carvalho; Neves, Juliana de Carvalho; Portes, Leslie Andrews; Salge, João Marcos; Zanoteli, Edmar; Reed, Umbertina Conti

    2014-01-01

    OBJECTIVE: Respiratory complications are the main causes of morbidity and mortality in patients with neuromuscular disease (NMD). The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy (SMA) and in patients with congenital muscular dystrophy (CMD), as well as to identify associations between spinal deformities and the effects of the maneuvers. METHODS: Eighteen NMD patients (ten with CMD and eight with SMA) were submitted to routine daily air-stacking maneuvers at home with manual resuscitators for four to six months, undergoing pulmonary function tests before and after that period. The pulmonary function tests included measurements of FVC; PEF; maximum insufflation capacity (MIC); and assisted and unassisted peak cough flow (APCF and UPCF, respectively) with insufflations. RESULTS: After the use of home air-stacking maneuvers, there were improvements in the APCF and UPCF. In the patients without scoliosis, there was also a significant increase in FVC. When comparing patients with and without scoliosis, the increases in APCF and UPCF were more pronounced in those without scoliosis. CONCLUSIONS: Routine daily air-stacking maneuvers with a manual resuscitator appear to increase UPCF and APCF in patients with NMD, especially in those without scoliosis. PMID:25410841

  7. Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy,

    Directory of Open Access Journals (Sweden)

    Tanyse Bahia Carvalho Marques

    2014-10-01

    Full Text Available OBJECTIVE: Respiratory complications are the main causes of morbidity and mortality in patients with neuromuscular disease (NMD. The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy (SMA and in patients with congenital muscular dystrophy (CMD, as well as to identify associations between spinal deformities and the effects of the maneuvers. METHODS: Eighteen NMD patients (ten with CMD and eight with SMA were submitted to routine daily air-stacking maneuvers at home with manual resuscitators for four to six months, undergoing pulmonary function tests before and after that period. The pulmonary function tests included measurements of FVC; PEF; maximum insufflation capacity (MIC; and assisted and unassisted peak cough flow (APCF and UPCF, respectively with insufflations. RESULTS: After the use of home air-stacking maneuvers, there were improvements in the APCF and UPCF. In the patients without scoliosis, there was also a significant increase in FVC. When comparing patients with and without scoliosis, the increases in APCF and UPCF were more pronounced in those without scoliosis. CONCLUSIONS: Routine daily air-stacking maneuvers with a manual resuscitator appear to increase UPCF and APCF in patients with NMD, especially in those without scoliosis.

  8. Distrofia muscular congênita e deficiência de merosina Congenital muscular dystrophy and merosin deficiency

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    Lineu Cesar Werneck

    1997-01-01

    Full Text Available Uma proporção variável de pacientes com distrofia muscular congênita (DMC da forma clássica ou ocidental apresenta deficiência da cadeia α2 da merosina, uma proteína da matriz extracelular. Foi realizado estudo das características clínicas, laboratoriais e histopatológicas de 18 pacientes com DMC, relacionadas com o padrão de merosina encontrado na biópsia muscular. Estudo imuno-histoquímico demonstrou que 11 pacientes eram merosina-deficiente (MD e sete pacientes eram merosina-positiva (MP. Nenhum dos nove pacientes MD com idade suficiente para serem avaliados alcançaram a capacidade de deambulação, enquanto quatro dos sete pacientes MP atingiram deambulação sem auxílio. Os níveis de creatinoquinase estavam mais aumentados nos pacientes MD, mas a diferença entre os dois grupos não foi estatisticamente significativa. Estudo da condução nervosa motora foi realizado em 12 pacientes. Todos os quatro pacientes MP apresentaram exames normais, enquanto dois de oito pacientes MD apresentaram diminuição da velocidade de condução nervosa motora. Entre 69 parâmetros de biópsia muscular avaliados, não foi encontrada diferença estatisticamente significativa entre os grupos MP e MD. Esses resultados sugerem que a diferenciação entre os casos MP e MD serve para fins de prognóstico, pois os pacientes MP chegam a deambular. Além disso, este estudo indica que não existe relação entre a ausência de merosina e as alterações histológicas encontradas na biópsia muscular.Merosin α2 chain, an extracellular matrix protein, is deficient in a proportion of patients with classical congenital muscular dystrophy (CMD. A study of clinical, laboratory and histopathological features of 18 patients with CMD was performed in relation to the merosin expression in muscle biopsy. Immunohistochemistry study showed that merosin was deficient in 11 patients and present in 7. None of the 9 merosin-deficient patient: evaluated achieved

  9. Clinical features of adult spinal muscular atrophy:46 cases

    Institute of Scientific and Technical Information of China (English)

    Xiaojun He; Ping Zhang; Guanghui Chen

    2006-01-01

    BACKGROUND: Spinal muscular atrophy (SMA) is a kind of degenerative disease of nervous system. There are 4 types in clinic, especially types Ⅰ, Ⅱ and Ⅲ are common, and the researches on those 3 types are relative mature. Type Ⅳ is a kind of adult spinal muscular atrophy (ASMA), which has low incidence rate and is often misdiagnosed as amyotrophic lateral sclerosis, muscular dystrophy, cervical syndrome, or others.OBJECTIVE: To observe the clinical features of 46 ASMA patients and analyze the relationship between course and activity of daily living.DESIGN: Case analysis.SETTING: Departments of Neurology of the 81 Hospital of Chinese PLA, the Second Affiliated Hospital of Nanjing Medical College and General Hospital of Nanjing Military Area Command of Chinese PLA.PARTICIPANTS: A total of 46 ASMA patients were selected from the Departments of Neurology of the 81Hospital of Chinese PLA, the Second Affiliated Hospital of Nanjing Medical College and General Hospital of Nanjing Military Area Command of Chinese PLA between April 1998 and January 2002. All patients were consentient. Among 46 cases, there were 37 males and 9 females with the mean age of 42 years. The patients' courses in all ranged from 6 months to 23 years, concretely, courses of 37 cases were less than or equal to 5 years, and those of 9 cases were more than or equal to 6 years.METHODS : ① All the 46 ASMA patients were asked to check blood sedimentation, anti O, serum creatinine,creatine, blood creatine phosphokinase (CPK) and muscular biopsy as early as possible. ② X-ray was used to measure plain film of cervical vertebra borderline film of cranium and neck at proximal end of upper limb of 25 cases and plain film of abdominal vertebra at proximal end of lower limb of 17 cases.③ Cerebrospinal fluid of lumbar puncture was checked on 42 cases, for routine examination, biochemical examination, and immunoglobulin examination. Electromyogram (EMG) was also examined to 42 cases. ④ Barthel index

  10. Current and emerging treatment strategies for Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Mah JK

    2016-07-01

    Full Text Available Jean K Mah Department of Pediatrics and Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada Abstract: Duchenne muscular dystrophy (DMD is the most common form of muscular dystrophy in childhood. It is caused by mutations of the DMD gene, leading to progressive muscle weakness, loss of independent ambulation by early teens, and premature death due to cardiorespiratory complications. The diagnosis can usually be made after careful review of the history and examination of affected boys presenting with developmental delay, proximal weakness, and elevated serum creatine kinase, plus confirmation by muscle biopsy or genetic testing. Precise characterization of the DMD mutation is important for genetic counseling and individualized treatment. Current standard of care includes the use of corticosteroids to prolong ambulation and to delay the onset of secondary complications. Early use of cardioprotective agents, noninvasive positive pressure ventilation, and other supportive strategies has improved the life expectancy and health-related quality of life for many young adults with DMD. New emerging treatment includes viral-mediated microdystrophin gene replacement, exon skipping to restore the reading frame, and nonsense suppression therapy to allow translation and production of a modified dystrophin protein. Other potential therapeutic targets involve upregulation of compensatory proteins, reduction of the inflammatory cascade, and enhancement of muscle regeneration. So far, data from DMD clinical trials have shown limited success in delaying disease progression; unforeseen obstacles included immune response against the generated mini-dystrophin, inconsistent evidence of dystrophin production in muscle biopsies, and failure to demonstrate a significant improvement in the primary outcome measure, as defined by the 6-minute walk test in some studies. The long-term safety and efficacy of emerging treatments

  11. Botulinum toxin for treating muscular temporomandibular disorders: a systematic review

    Directory of Open Access Journals (Sweden)

    Eduardo Machado

    2012-12-01

    Full Text Available OBJECTIVE: This study, through a systematic literature review, aims to analyze the effectiveness of Botulinum Toxin as a treatment for masticatory myofascial pain and muscles temporomandibular disorders (TMD. METHODS: Survey in research bases: MEDLINE, Cochrane, EMBASE, Pubmed, Lilacs and BBO, between the years of 1966 and April 2011, with focus in randomized or quasi-randomized controlled clinical trials, blind or double-blind. RESULTS: After applying the inclusion criteria, 4 articles comprised the final sample: 3 were double-blind randomized controlled clinical trials and 1 was single-blind randomized controlled clinical trial. CONCLUSIONS: According to the literature, there is lack of evidence about the real effectiveness of botulinum toxin in the treatment of masticatory myofascial pain and muscular TMD. Thus, further randomized controlled clinical trials, with representative samples and longer follow-up time, to assess the real effectiveness of the technique are needed.OBJETIVO: este trabalho, por meio de uma revisão sistemática da literatura, teve como objetivo analisar a efetividade da toxina botulínica como tratamento para dor miofascial mastigatória e disfunções temporomandibulares (DTM musculares. MÉTODOS: pesquisa nas bases de dados Medline, Cochrane, Embase, Pubmed, Lilacs e BBO, no período entre 1966 e abril de 2011, com enfoque em estudos clínicos controlados randomizados ou quase-randomizados, cegos ou duplo-cegos. RESULTADOS: após a aplicação dos critérios de inclusão, chegou-se a 4 artigos, sendo que 3 eram estudos clínicos controlados randomizados duplo-cego e 1 era estudo clínico controlado randomizado simples-cego. CONCLUSÕES: pela análise da literatura, verificou-se um número reduzido de evidências significativas sobre a real efetividade da toxina botulínica no tratamento da dor miofascial e de DTM musculares. Assim, são necessários novos estudos clínicos controlados randomizados, com amostras

  12. Efeitos de concentrações crescentes de lidocaína hiperbárica, administradas no espaço subaracnóideo, sobre a medula espinhal e as meninges: estudo experimental em cães Efectos de concentraciones crecientes de lidocaína hiperbara, administradas en el espacio subaracnoideo, sobre la médula espinal y las meninges: estudio experimental en perros Effects of increasing spinal hyperbaric lidocaine concentrations on spinal cord and meninges: experimental study in dogs

    Directory of Open Access Journals (Sweden)

    Silvânia R.O. Pires

    2006-06-01

    qual foram notados focos de necrose, em área inferior a 5% do campo histológico não foram encontradas alterações clínicas. Sete animais do Grupo 4 apresentaram alterações clínicas (paralisia ou diminuição de força muscular nas patas posteriores, relaxamento do esfíncter anal e histológicas (necrose na faixa da superfície medular ou focos de necrose de tecido nervoso. CONCLUSÕES: Neste estudo, a lidocaína em concentrações superiores a 7,5%, em injeção única, administrada no espaço subaracnóideo por meio de agulha de Quincke, determinou alterações histológicas sobre a medula espinhal, mas não sobre as meninges.JUSTIFICATIVA Y OBJETIVOS: Todavía no ha quedado bien establecida la concentración de lidocaína que es potencialmente capaz de determinar lesión en el tejido nervioso. El objetivo de esta pesquisa fue el de estudiar los efectos sobre la médula espinal y las meninges, de concentraciones crecientes de lidocaína administrada por vía subaracnoidea, en inyección única a través de aguja de Quincke. MÉTODO: Después de la aprobación de la Comisión de Ética en Experimentación Animal, 40 perros adultos fueron anestesiados con fentanil y etomidato y sometidos a punción subaracnoidea con aguja de Quincke 22G 21/2 para introducción de 1 mL, en 10 segundos, de solución glicosada a 7,5% - Grupo 1; lidocaína a 5% en solución glicosada a 7,5 % - Grupo 2; lidocaína a 7,5% en solución glicosada a 7,5% - Grupo 3; lidocaína a 10% en solución glicosada a 7,5% - Grupo 4. Después de la recuperación de la anestesia venosa, se observó, durante el período en que los animales estaban bajo los efectos del bloqueo subaracnoideo, la presencia de bloqueo motor, el tono del esfínter anal (normal o relajado y el nivel de bloqueo sensitivo en los diferentes dermátomos de las regiones cervical, torácica, lumbar y sacral. Los animales permanecieron en cautiverio por 72 horas. Se evaluaron el tono del esfínter anal, la motricidad de las patas

  13. Strategies for treating scoliosis in children with spinal muscular atrophy.

    Science.gov (United States)

    Tobert, Daniel G; Vitale, Michael G

    2013-11-01

    Progressive pulmonary dysfunction is a major complication of spinal muscular atrophy (SMA). Growing constructs are a well-established alternative to spinal arthrodesis to maximize pulmonary growth. We describe patients who demonstrated sustained pulmonary function and improved quality of life following hybrid growing construct implantation. The purpose of this article is to demonstrate a range of approaches for managing scoliosis in children with SMA by utilizing vertical expandable prosthetic titanium rib implantation or growing rods with lateral rib fixation to improve clinical and patient-reported outcomes. Pulmonary compromise and quality of life decline are leading concerns in the SMA population. This case series highlights important surgical strategies that can be utilized to treat scoliosis in patients with SMA.

  14. Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders

    DEFF Research Database (Denmark)

    Dahlqvist, Julia Rebecka; Vissing, John

    2016-01-01

    There is no curative treatment for most neuromuscular disorders. Exercise, as a treatment for these diseases, has therefore received growing attention. When executed properly, exercise can maintain and improve health and reduce the risk of cardiovascular disease, obesity, and diabetes. In persons...... in patients with neuromuscular diseases associated with weakness and wasting. We review studies that have investigated different types of exercise in both myopathies and motor neuron diseases, with particular emphasis on training of persons affected by spinobulbar muscular atrophy (SBMA). Finally, we provide...... with muscle wasting due to neuromuscular conditions, however, a common belief has been that physical activity could accelerate degeneration of the diseased muscle and a careful approach to training has therefore been suggested. In this review, we describe the current knowledge about physical training...

  15. Laminins in peripheral nerve development and muscular dystrophy.

    Science.gov (United States)

    Yu, Wei-Ming; Yu, Huaxu; Chen, Zu-Lin

    2007-06-01

    Laminins are extracellular matrix (ECM) proteins that play an important role in cellular function and tissue morphogenesis. In the peripheral nervous system (PNS), laminins are expressed in Schwann cells and participate in their development. Mutations in laminin subunits expressed in the PNS and in skeleton muscle may cause peripheral neuropathies and muscular dystrophy in both humans and mice. Recent studies using gene knockout technology, such as cell-type specific gene targeting techniques, revealed that laminins and their receptors mediate Schwann cell and axon interactions. Schwann cells with disrupted laminin expression exhibit impaired proliferation and differentiation and also undergo apoptosis. In this review, we focus on the potential molecular mechanisms by which laminins participate in the development of Schwann cells.

  16. Study of muscular deformation based on surface slope estimation

    Science.gov (United States)

    Carli, M.; Goffredo, M.; Schmid, M.; Neri, A.

    2006-02-01

    During contraction and stretching, muscles change shape and size, and produce a deformation of skin tissues and a modification of the body segment shape. In human motion analysis, it is very important to take into account these phenomena. The aim of this work is the evaluation of skin and muscular deformation, and the modeling of body segment elastic behavior obtained by analysing video sequences that capture a muscle contraction. The soft tissue modeling is accomplished by using triangular meshes that automatically adapt to the body segment during the execution of a static muscle contraction. The adaptive triangular mesh is built on reference points whose motion is estimated by using non linear operators. Experimental results, obtained by applying the proposed method to several video sequences, where biceps brachial isometric contraction was present, show the effectiveness of this technique.

  17. Morphometric analysis of cryofixed muscular tissue for intraoperative consultation.

    Science.gov (United States)

    Bianciardi, Giorgio; Pontenani, Francesca; Vassallo, Loretta; Tacchini, Damiana; Buonsanti, Michele; Tripodi, Sergio

    2016-03-01

    For diagnostic purposes, cryofixation of tissues is a daily routine technique to investigate rapidly about the presence of tumours during a surgical procedure in patients. We performed morphometric analysis of cryofixed muscular tissues according to different techniques. About 1,000 muscle fibers and 1,493 nuclei, were automatically examined. After freezing, ice tissue interfaces shrinkage of the cells were present. Liquid isopentane or liquid nitrogen produced a statistical increase of fractal dimension, D, of the ice-tissue interfaces, P damage inside the muscle cells was absent in the samples cryofixed inside the cryostat, it was present after cryofixation by liquid nitrogen or isopentane. Subcellular components like the nuclei were preserved by isopentane. This paper present, for the first time, an objective method able to quantify and characterize the damages produced by cryofixation in biological sample for intraoperative consultation.

  18. Distrofias musculares congénitas e LMNA

    OpenAIRE

    Santos, Manuela

    2012-01-01

    As distrofias musculares congénitas (CMD) são doenças com início no primeiro ano de vida, sendo os grupos mais comuns as merosinopatias, as doenças do colagénio e as distroglicanopatias. O diagnóstico etiológico passa pela caraterização clinica e investigação com estudo bioquímico (Ck), imagem cerebral e pela histologia do músculo. Após uma avaliação global, na maioria dos casos, é possível uma orientação concreta para estudo genética molecular. Apresentamos um caso dum doente com uma forma ...

  19. [Development of therapeutics for spinal and bulbar muscular atrophy (SBMA)].

    Science.gov (United States)

    Sobue, Gen

    2003-11-01

    Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a hereditary motor neuron disease that affects males, caused by the expansion of a polyglutamine (polyQ) tract in androgen receptor (AR). Female carriers are usually asymptomatic. The transgenic mouse (Tg) model carrying a full-length human AR with expanded polyQ has significant gender-related motor impairment. This phenotype is inhibited by castration, which prevents nuclear translocation of mutant AR. Leuprorelin, an LHRH agonist that reduces testosterone release from the testis, also rescues motor dysfunction and nuclear accumulation of mutant AR in the male Tg. Over-expression of a molecular chaperone HSP70, which renatures misfolded mutant AR, ameliorates neuromuscular phenotypes of the Tg by reducing nuclear-localized mutant AR. HSP70 appears to enhance the degradation of mutant AR via ubiquitin-proteasome pathway. These experimental approaches indicate the possibility of clinical application of drugs, such as leuprorelin, for SBMA patients.

  20. [Potential of the zebrafish model to study congenital muscular dystrophies].

    Science.gov (United States)

    Ryckebüsch, Lucile

    2015-10-01

    In order to better understand the complexity of congenital muscular dystrophies (CMD) and develop new strategies to cure them, it is important to establish new disease models. Due to its numerous helpful attributes, the zebrafish has recently become a very powerful animal model for the study of CMD. For some CMD, this vertebrate model is phenotypically closer to human pathology than the murine model. Over the last few years, researchers have developed innovative techniques to screen rapidly and on a large scale for muscle defects in zebrafish. Furthermore, new genome editing techniques in zebrafish make possible the identification of new disease models. In this review, the major attributes of zebrafish for CMD studies are discussed and the principal models of CMD in zebrafish are highlighted.

  1. Response to Cardiac Resynchronization Therapy: The Muscular Metabolic Pathway

    Directory of Open Access Journals (Sweden)

    Jérémie Jaussaud

    2011-01-01

    245±140 seconds (=.01. Peak VO2, VE/VCO2, peak circulatory power and NYHA were improved after CRT (13±4 to16±5 ml/kg/min (<.05, 45±16 to 39±13 (<.01, 1805±844 to 2225±1171 mmHg.ml/kg/min (<.01 and 3±0.35 to 1.88±0.4 (=.01. In addition, left ventricular ejection fraction and end-systolic volumes were improved from 24±8 to 29±7% (<.01 and from 157±69 to 122±55 ml (<.01. Conclusion. We suggest that CRT leads to an increase in oxidative muscular metabolism and postponed anaerobic threshold reducing exaggerated hyperventilation during exercise.

  2. Evaluacion del factor central y periferico en fatiga muscular

    Directory of Open Access Journals (Sweden)

    Marcela E. Panizza

    1983-09-01

    Full Text Available Se estúdio la fatiga muscular en 13 sujetos normales; para ello, fueron sometidos a un esfuerzo sostenido durante 10 minutos previo y posterior, al cual se realizo la medición de la onda M máxima. Durante el esfuerzo y cada 2 minutos, se obtuvieron cuantificaciones de la frecuencia y duración de las ondas positivas y negativas del EMG. Los resultados, mostraron diferencias significativas de estos valores, en función del tiempo de esfuerzo realizado, mientras que las mediciones de la onda M máxima inicial y final, no fueron diferentes, todo lo cual lleva a jerarquizar el factor central como el más importante en el desarrollo de fatiga, bajo nuestras condiciones de estudio, que son además de sencilla aplicación clínica.

  3. Spinal muscular atrophy: Factors that modulate motor neurone vulnerability.

    Science.gov (United States)

    Tu, Wen-Yo; Simpson, Julie E; Highley, J Robin; Heath, Paul R

    2017-02-02

    Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To date, no effective treatment is available, however, there are ongoing clinical trials are in place which promise much for the future. However, there remains an ongoing problem in trying to link a single gene loss to motor neurone degeneration. Fortunately, given successful disease models that have been established and intensive studies on SMN functions in the past ten years, we are fast approaching the stage of identifying the underlying mechanisms of SMA pathogenesis Here we discuss potential disease modifying factors on motor neurone vulnerability, in the belief that these factors give insight into the pathological mechanisms of SMA and therefore possible therapeutic targets.

  4. Treatment of Duchenne muscular dystrophy with growth hormone inhibitors.

    Science.gov (United States)

    Zatz, M; Betti, R T; Frota-Pessoa, O

    1986-07-01

    A controlled, double-blind therapeutic trial with the drug mazindol, a growth hormone inhibitor, was performed in a pair of 7 1/2 year-old monozygotic twins, with Duchenne muscular dystrophy (DMD). The rationale for this trial was based on a patient (reported previously) affected simultaneously with DMD and growth hormone (GH) deficiency, who is showing a benign course of the dystrophic process and is still walking at 18 years. One of the twins received 2 mg of mazindol daily, while the other received a placebo. The assessment, repeated every 2 months, included weight and height measurements, functional and motor ability tests, ergometry and determinations of serum enzymes and GH levels. After one year of trial the code was broken and it was seen that the twin under placebo treatment was strikingly worse than his brother, the progression of whose condition was practically arrested. These results strongly suggest that treatment with a GH inhibitor is beneficial for DMD patients.

  5. Duchenne muscular dystrophy drugs face tough path to approval.

    Science.gov (United States)

    Hodgkinson, L; Sorbera, L; Graul, A I

    2016-03-01

    Highly anticipated as new disease-modifying treatments for Duchenne muscular dystrophy (DMD), therapeutics by BioMarin Pharmaceutical (Kyndrisa™; drisapersen) and Sarepta Therapeutics (eteplirsen; AVI-4658) both recently received negative FDA reviews and are now facing battles for approval in the U.S. At present, BioMarin is committed to working with the FDA to forge a pathway to approval following the failure of its NDA, while Sarepta awaits the formal decision on its NDA, which is expected by late May 2016. Despite the critical nature of both reviews, analysts consider that there is still a narrow possibility of approval of both drugs. According to Consensus forecasts from Thomson Reuters Cortellis for Competitive Intelligence, Kyndrisa is forecast to achieve sales of USD 533.71 million in 2021.

  6. Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation

    Directory of Open Access Journals (Sweden)

    Humberto Perera Navarro

    2007-05-01

    Full Text Available The Duchenne muscular dystrophy is one of the most frequent hereditary myopathies that exist. It is characterized by degeneration of the muscle skeletal fibers which produce handicap in the first decade of life bringing about death due to cardiac or respiratory failure. The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. An indirect molecular study was performed with the STR-50 polymorphic marker. After the analysis of the results in which the lab methodology was applied, the fetus was found to be sick and the family decided to interrupt the pregnancy.

  7. Bioelectrical Impedance Vector Analysis and Muscular Fitness in Healthy Men

    Science.gov (United States)

    Rodríguez-Rodríguez, Fernando; Cristi-Montero, Carlos; González-Ruíz, Katherine; Correa-Bautista, Jorge Enrique; Ramírez-Vélez, Robinson

    2016-01-01

    Muscle strength can define the general muscular fitness (MF) measurable through hand-grip strength (HG), which is a factor that relates to the health of people of different ages. In this study we evaluated the muscle strength together with a bioimpedance electric analysis in 223 healthy Colombian adult subjects. The bioelectrical impedance vector analysis (BIVA) was conducted to determine the resistance (R), reactance (Xc) and phase angle (PhA). We classified the subjects into three groups (for tertiles), obtaining lower values of R and Xc in subjects with lower HG, plus a high correlation between PhA and HG. An increase in the level of PhA is associated with a high level of MF in a sample of healthy Latin American adult men. The BIVA’s parameters and PhA are a potentially effective preventive measure to be integrated into routine screening in the clinical setting. PMID:27384579

  8. Bioelectrical Impedance Vector Analysis and Muscular Fitness in Healthy Men

    Directory of Open Access Journals (Sweden)

    Fernando Rodríguez-Rodríguez

    2016-07-01

    Full Text Available Muscle strength can define the general muscular fitness (MF measurable through hand-grip strength (HG, which is a factor that relates to the health of people of different ages. In this study we evaluated the muscle strength together with a bioimpedance electric analysis in 223 healthy Colombian adult subjects. The bioelectrical impedance vector analysis (BIVA was conducted to determine the resistance (R, reactance (Xc and phase angle (PhA. We classified the subjects into three groups (for tertiles, obtaining lower values of R and Xc in subjects with lower HG, plus a high correlation between PhA and HG. An increase in the level of PhA is associated with a high level of MF in a sample of healthy Latin American adult men. The BIVA’s parameters and PhA are a potentially effective preventive measure to be integrated into routine screening in the clinical setting.

  9. The Impact of Obesity on Back and Core Muscular Endurance in Firefighters

    Directory of Open Access Journals (Sweden)

    John M. Mayer

    2012-01-01

    Full Text Available The purpose of this study was to assess the relationships between obesity and measures of back and core muscular endurance in firefighters. Methods. A cross-sectional study was conducted in career firefighters without low back pain. Obesity measures included body mass index (BMI and body fat percentage assessed with air displacement plethysmography. Muscular endurance was assessed with the Modified Biering Sorensen (back and Plank (core tests. Relationships were explored using t-tests and regression analyses. Results. Of the 83 participants enrolled, 24 (29% were obese (BMI ≥ 30. Back and core muscular endurance was 27% lower for obese participants. Significant negative correlations were observed for BMI and body fat percentage with back and core endurance (r = −0.42 to −0.52. Stepwise regression models including one obesity measure (BMI, body fat percentage, and fat mass/fat-free mass, along with age and self-reported physical exercise, accounted for 17–19% of the variance in back muscular endurance and 29–37% of the variance in core muscular endurance. Conclusions. Obesity is associated with reduced back and core muscular endurance in firefighters, which may increase the risk of musculoskeletal injuries. Obesity should be considered along with back and core muscular endurance when designing exercise programs for back pain prevention in firefighters.

  10. Drive for muscularity and social physique anxiety mediate the perceived ideal physique muscle dysmorphia relationship.

    Science.gov (United States)

    Thomas, Adam; Tod, David A; Edwards, Christian J; McGuigan, Michael R

    2014-12-01

    This study examined the mediating role of drive for muscularity and social physique anxiety (SPA) in the perceived muscular male ideal physique and muscle dysmorphia relationship in weight training men. Men (N = 146, mean ± SD; age, 22.8 ± 5.0 years; weight, 82.0 ± 11.1 kg; height, 1.80 ± 0.07 m; body mass index, 25.1 ± 3.0) who participated in weight training completed validated questionnaires measuring drive for muscularity, SPA, perceived muscular male ideal physique, global muscle dysmorphia, and several characteristics of muscle dysmorphia (exercise dependence, diet manipulation, concerns about size/symmetry, physique protection behavior, and supplementation). Perceived ideal physique was an independent predictor of muscle dysmorphia measures except physique protection (coefficients = 0.113-0.149, p ≤ 0.05). Perceived ideal physique also predicted muscle dysmorphia characteristics (except physique protection and diet) through the indirect drive for muscularity pathway (coefficients = 0.055-0.116, p ≤ 0.05). Perceived ideal physique also predicted size/symmetry concerns and physique protection through the indirect drive for muscularity and SPA pathway (coefficients = 0.080-0.025, p ≤ 0.05). These results extend current research by providing insights into the way correlates of muscle dysmorphia interact to predict the condition. The results also highlight signs (e.g., anxiety about muscularity) that strength and conditioning coaches can use to identify at-risk people who may benefit from being referred for psychological assistance.

  11. Progressive muscular dystrophy: Duchenne type. Controversies of the kinesitherapy treatment

    Directory of Open Access Journals (Sweden)

    Ana Valéria de Araujo Leitão

    Full Text Available The authors carried out a study of children with progressive muscular dystrophy of Duchenne type (DMD, giving special attention to physiatrical follow-up, having in mind that the practice of exercises has been debated very much in the specialized literature. The goal of this study is to try to settle the limits for the utilization of kinesitherapy which should be applied only in specific situations, such as: after skeletal muscular trauma or when the respiratory system is at risk. In this situation the physiatrical procedure would be to restrict physical activity, with early use of wheelchairs and the exclusion of the use of orthoses for orthostatism. DMD, at present, has been considered a result of duplication (60%, deletion (5 to 6% or point mutations at gen Xp21 (Zatz, 1994, that codifies a protein called Dystrophin ( Hoffman et al., 1987. Dystrophin is a cytoskeletal sarcolemmic protein that constitutes about .002% of the total protein of the muscle, present in skeletal fibers concentrated in muscle tendinous joints, which supplies mechanical reinforcement to the surface of the membrane during stretching and shortening physical activity. This protein is absent in DMD cases, wherefore, the sarcolemma undergoes a segmentary necrosis losing its contractile property during eccentric and concentric physical activity. The importance of physiatrical follow-up for DMD patients is to avoid deformities and tendon shortening, to ameliorate the patient's quality of life, to provide respiratory assistance and general couseling to members of the patient's family. The objective of this study is to try to clarify the risks and possibilities of kinesitherapy applied to DMD cases.

  12. Motor unit reorganization in progressive muscular dystrophies and congenital myopathies.

    Science.gov (United States)

    Szmidt-Sałkowska, Elżbieta; Gaweł, Małgorzata; Lipowska, Marta

    2015-01-01

    The aim of this study was to analyze motor unit reorganization in different types of progressive muscular dystrophies and congenital myopathies. The study population consisted of patients with genetically verified progressive muscular dystrophies: Duchenne (DMD) (n=54), Becker (BMD) (n=30), facio-scapulo-humeral (FSHD) (n=37), and Emery-Dreifuss (E-DD) (n=26). Patients with probable limb-girdle dystrophy (L-GD) (n=58) and congenital myopathies (n=35) were also included in the study. Quantitative EMG recordings were obtained from 469 muscles. Muscle activity at rest and during slight voluntary and maximal muscle contraction was analyzed. The motor unit activity potential (MUAP) duration, amplitude, area, size index (SI), polyphasicity, and the presence of "outliers" were evaluated. Diminished values of MUAP parameters and decreased maximal amplitude of maximal muscle contraction were recorded most frequently in DMD and mainly in the biceps brachii muscles. SI was the most frequently changed EMG parameter. "Outliers" with amplitude below the normal range were recorded more frequently then a decreased mean MUAP amplitude (what could indicate a very high sensitivity of this EMG parameter). Pathological interference pattern was recorded in 34.7% of biceps brachii and in 21.2% of rectus femoris muscles. In FSHD, decreased MUAP duration and SI and pathological interference pattern with low amplitude were recorded most frequently in the tibial anterior and deltoid muscles. The presence of potentials with reduced parameters is a result of decreasing motor unit area (reduced number and size of muscle fibers), while high amplitude potentials recorded in BMD and E-DD could indicate a slow and mild course of disease and muscle regeneration.

  13. Distrofia muscular congênita estudo clinico de 17 pacientes

    Directory of Open Access Journals (Sweden)

    A. S. B. Oliveira

    1991-09-01

    Full Text Available Descrevemos 17 pacientes (12m, 5f com idades que variaram de 1 a 24 anos (mediana 6 anos com distrofia muscular congênita (DMC, que foram estudados do ponto de vista genético, clínico, laboratorial, eletrofisiológico e anátomo-patológico. A apresentação segundo a herança foi da forma esporádica (76,5% ou possivelmente autossômica recessiva (23,5%. A diminuição da movimentação fetal intra-uterina foi referida em 57% dos casos, hipotonia neonatal em 82% e retardo no desenvolvimento motor em 88,2%. Fraqueza muscular, diminuição dos reflexos profundos e contraturas articulares estavam presentes em todos os casos. A piora na função motora estava muito relacionada ao aumento ou aparecimento de novas retrações articulares. A CK nunca ultrapassou valores acima de 8 vezes o normal. O ENMG foi de padrão miopático em 73,3%, neuropático em 13,3% e normal em 13,3% dos casos. Aspectos tomográficos com hipodensidade da substância branca subcortical foram vistos em 8 casos. Ao tratamento impôs-se fisioterapia adequada e cirurgia corretiva das deformidades articulares. Novas contraturas desenvolveram-se mais tarde e estavam relacionadas freqüentemente a fisioterapia insuficiente.

  14. Differences of muscular performance between professional and young basketball players

    Directory of Open Access Journals (Sweden)

    Carlos Balsalobre-Fernández

    2016-01-01

    Full Text Available El alto rendimiento en el salto vertical, la capacidad de repetir sprints (RSA y la potencia muscular son 3 de las variables más importantes para los jugadores de ba- loncesto profesionales. Sin embargo, hay pocos estudios que analicen las diferencias en estas variables entre ju- gadores jóvenes de alto nivel y sujetos profesionales. El objetivo de este estudio es analizar las diferencias en el salto vertical (CMJ, la RSA y la potencia muscular entre jugadores de baloncesto profesionales y jóvenes talen- tos. Para ello, un test de RSA, el CMJ antes y después del test de RSA, el sprint de 35 m y la potencia en dichas variables fueron medidas a 11 jugadores de baloncesto profesionales ( n = 11, edad = 24.3 ± 5.5 años, altura = 200 ± 10.4 cm, peso = 98.4 ± 8.7 kg y a 9 jugadores jóve- nes de élite ( n = 9, edad = 15.2 ± 0.4 años, altura = 190 ± 6.5 cm, peso = 78.2 ± 5.2 kg. Los resultados muestran que no hay diferencias significativas entre grupos en la fatiga en el test de RSA, la altura alcanzada en el CMJ o el sprint de 35 m. Sin embargo, los jugadores profe- sionales produjeron significativamente más potencia en estas variables que los jóvenes ( p < 0.05 - 0.001. Estos hallazgos pueden tener relevancia práctica en el diseño de los programas de entrenamiento para jugadores jó- venes de baloncesto.

  15. Neuroimaging study of Fukuyama type congenital muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Murasugi, Hiroko (Tokyo Women' s Medical Coll. (Japan))

    1992-11-01

    Fukuyama type congenital muscular dystrophy (FCMD) has been attracting attention in recent years because of its brain malformation and progressive muscular dystrophy. The intravitam recognition of brain malformation has been remarkably enhanced by the advent of noninvasive neuroimaging techniques such as CT and MRI. In this study, 87 cranial CT scans and 22 MRIs of the brain, carried out on 60 patients with FCMD, were systematically surveyed, and the correlation between neuroradiological findings and clinical disabilities, and, in two autopsy cases, neuropathological findings was evaluated. Four cases of lissencephalic, 29 of pachygyric, and one of polymicrogyric (suspected) brain surface, and 2 normal brain surfaces were recognized. The patients with lissencephalic brain surface were compared using Dobyns' criteria. Grading of pachygyria was judged as bilateral II in 52% of cases and bilateral I in 48%. The surface of the occipital lobe could not be confirmed with either CT or MRI. Polymicrogyria was suspected using MRI but could not confirmed with CT. Five caces of lissencephaly had never learned any meaningful words and all but one were bedridden because of poor head control. The abilities of patients were better when the grading of pachygyria was milder. Mental disability and peak motor function correlate more closely with the degree and extent of brain malformation than with muscle degeneration. The decrease in radiodensity in the white matter was remarkable in 12 out of 19 cases (63%), and was usually bilaterally symmetrical. An increase in radiodensity in the white matter with age was observed in 3 patients. The rate of myelination was slower than normal in 3 out of the 6 cases. (author).

  16. Comparison of Deflazacort and Prednisone in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Parvaneh KARIMZADEH

    2012-03-01

    Full Text Available ObjectiveDuchenne muscular dystrophy (DMD is a degenerative disease that usually becomes clinically detectable in childhood as progressive proximal weakness. No cure is yet available for DMD, but the use of steroids improves muscle strength and function. This study has been carried out to select the best steroid for the management of DMD.Materials & MethodsThis study is a single-blind, randomized clinical trial with a sample volume of 34 DMD patients. Half of these patients were treated with deflazacort (0.9 mg/kg daily and the other half with prednisone (0.75 mg/kg daily for a period of 18 months. The motor function score and excess body weight were registered one year after the start and also at the end of the study and compared between the two groups.ResultsDeflazacort was more effective in the improvement of motor function after one year, but there was no significant difference between the two drugs at the end of the study (18 months after start. Weight gain after one year and at the end of the study was higher in prednisone group and steroid treatment with deflazacort appears to cause fewer side effects than prednisone regarding weight gain.ConclusionDeflazacort seems to be more effective than prednisone in the improvement of motor function causing fewer side effects, particularly weight gain. This medication may be important for the improvement of motor function and could be used as the best steroidal treatment for Duchenne muscular dystrophy.

  17. NAD+ biosynthesis ameliorates a zebrafish model of muscular dystrophy.

    Directory of Open Access Journals (Sweden)

    Michelle F Goody

    Full Text Available Muscular dystrophies are common, currently incurable diseases. A subset of dystrophies result from genetic disruptions in complexes that attach muscle fibers to their surrounding extracellular matrix microenvironment. Cell-matrix adhesions are exquisite sensors of physiological conditions and mediate responses that allow cells to adapt to changing conditions. Thus, one approach towards finding targets for future therapeutic applications is to identify cell adhesion pathways that mediate these dynamic, adaptive responses in vivo. We find that nicotinamide riboside kinase 2b-mediated NAD+ biosynthesis, which functions as a small molecule agonist of muscle fiber-extracellular matrix adhesion, corrects dystrophic phenotypes in zebrafish lacking either a primary component of the dystrophin-glycoprotein complex or integrin alpha7. Exogenous NAD+ or a vitamin precursor to NAD+ reduces muscle fiber degeneration and results in significantly faster escape responses in dystrophic embryos. Overexpression of paxillin, a cell adhesion protein downstream of NAD+ in this novel cell adhesion pathway, reduces muscle degeneration in zebrafish with intact integrin receptors but does not improve motility. Activation of this pathway significantly increases organization of laminin, a major component of the extracellular matrix basement membrane. Our results indicate that the primary protective effects of NAD+ result from changes to the basement membrane, as a wild-type basement membrane is sufficient to increase resilience of dystrophic muscle fibers to damage. The surprising result that NAD+ supplementation ameliorates dystrophy in dystrophin-glycoprotein complex- or integrin alpha7-deficient zebrafish suggests the existence of an additional laminin receptor complex that anchors muscle fibers to the basement membrane. We find that integrin alpha6 participates in this pathway, but either integrin alpha7 or the dystrophin-glycoprotein complex is required in conjunction

  18. Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.

    Science.gov (United States)

    Mahmood, Omar Abdulmonem; Jiang, Xinmei; Zhang, Qi

    2013-07-15

    The relative frequencies of different subtypes of limb-girdle muscular dystrophies vary widely among different populations. We estimated the percentage of limb-girdle muscular dystrophy subtypes in Chinese people based on 68 patients with limb-girdle muscular dystrophy from the Myology Clinic, Neurology Department, First Hospital of Jilin University, China. A diagnosis of calpainopathy was made in 12 cases (17%), and dysferlin deficiency in 10 cases (15%). Two biopsies revealed α-sarcoglycan deficiency (3%), and two others revealed a lack of caveolin-3 (3%). A diagnosis of unclassified limb-girdle muscular dystrophy was made in the remaining patients (62%). The appearances of calpain 3- and dysferlin-deficient biopsies were similar, though rimmed vacuoles were unique to dysferlinopathy, while inflammatory infiltrates were present in both these limb-girdle muscular dystrophy type 2D biopsies. Macrophages were detected in seven dysferlinopathy biopsies. The results of this study suggest that the distribution of limb-girdle muscular dystrophy subtypes in the Han Chinese population is similar to that reported in the West. The less necrotic, regenerating and inflammatory appearance of limb-girdle muscular dystrophy type 2A, but with more lobulated fibers, supports the idea that calpainopathy is a less active, but more chronic disease than dysferlinopathy. Unusual features indicated an extended limb-girdle muscular dystrophy disease spectrum. The use of acid phosphatase stain should be considered in suspected dysferlinopathies. To the best of our knowledge, this is the first report to define the relative proportions of the various forms of limb-girdle muscular dystrophy in China, based on protein testing.

  19. Limb-girdle muscular dystrophy subtypes First-reported cohort from northeastern China*

    Institute of Scientific and Technical Information of China (English)

    Omar Abdulmonem Mahmood; Xinmei Jiang; Qi Zhang

    2013-01-01

    The relative frequencies of different subtypes of limb-girdle muscular dystrophies vary widely among different populations. We estimated the percentage of limb-girdle muscular dystrophy sub-types in Chinese people based on 68 patients with limb-girdle muscular dystrophy from the Myology Clinic, Neurology Department, First Hospital of Jilin University, China. A diagnosis of calpainopathy was made in 12 cases (17%), and dysferlin deficiency in 10 cases (15%). Two biopsies revealedα-sarcoglycan deficiency (3%), and two others revealed a lack of caveolin-3 (3%). A diagnosis of unclassified limb-girdle muscular dystrophy was made in the remaining patients (62%). The ap-pearances of calpain 3-and dysferlin-deficient biopsies were similar, though rimmed vacuoles were unique to dysferlinopathy, while inflammatory infiltrates were present in both these limb-girdle muscular dystrophy type 2D biopsies. Macrophages were detected in seven dysferlinopathy biop-sies. The results of this study suggest that the distribution of limb-girdle muscular dystrophy sub-types in the Han Chinese population is similar to that reported in the West. The less necrotic, re-generating and inflammatory appearance of limb-girdle muscular dystrophy type 2A, but with more lobulated fibers, supports the idea that calpainopathy is a less active, but more chronic disease than dysferlinopathy. Unusual features indicated an extended limb-girdle muscular dystrophy disease spectrum. The use of acid phosphatase stain should be considered in suspected dysferlinopathies. To the best of our knowledge, this is the first report to define the relative proportions of the various forms of limb-girdle muscular dystrophy in China, based on protein testing.

  20. An importance of the muscular imbalance in the context of functional disorders of the spine

    OpenAIRE

    JOZOVÁ, Kateřina

    2010-01-01

    ABSTRACT A topic of my thesis is an importance of the muscular imbalance in the context of functional disorders of the spine. The topic has been very up-to-date, because a large proportion of the population suffers from vertebral disorders of functional nature, which are just caused by muscular imbalances. A goal of the first part of the thesis was a theoretic analysis of the problem of muscular imbalances and functional disorders of the spine. A content of that chapter is an introduction to ...

  1. [The ultrasound assessment of neuro-muscular apparatus by the radial nerve injuries].

    Science.gov (United States)

    Golubev, V G; Kkhir Bek, M; Iulov, V V; Goncharov, N G

    2011-01-01

    The use of ultrasound (US) scanning to assess the muscular function during the reinnervation is a new concept in medicine. The US signs of muscle denervation were thoroughly described in the article. The US muscle monitoring was performed by the complete and partial radial nerve injury in various follow-up periods. Absolute and relative indications for surgery were determined. The comparative characteristics of structural muscular changes, together with the US test for the assessment of the treatment efficacy and nerval and muscular recovery were suggested.

  2. Dismorfia muscular e o uso de suplementos ergogênicos em desportistas

    OpenAIRE

    Litiane Dorneles de Lima; Cristina Machado Bragança de Moraes; Vanessa Ramos Kirsten

    2010-01-01

    A dismorfia muscular (DM) é um transtorno da imagem corporal que acomete principalmente homens que, apesar da grande hipertrofia muscular, consideram-se pequenos e fracos. Tendo em vista o crescente uso de substâncias ergogênicas para o aumento de massa muscular e o elevado número de indivíduos com transtornos corporais, o objetivo deste trabalho foi avaliar a presença de DM e o uso de suplementos ergogênicos em desportistas frequentadores de academia. Foram avaliados 23 indivíduos do sexo ma...

  3. Maximal muscular vascular conductances during whole body upright exercise in humans

    DEFF Research Database (Denmark)

    Calbet, J A L; Jensen-Urstad, M; Van Hall, Gerrit;

    2004-01-01

    That muscular blood flow may reach 2.5 l kg(-1) min(-1) in the quadriceps muscle has led to the suggestion that muscular vascular conductance must be restrained during whole body exercise to avoid hypotension. The main aim of this study was to determine the maximal arm and leg muscle vascular...... conductances (VC) during leg and arm exercise, to find out if the maximal muscular vasodilatory response is restrained during maximal combined arm and leg exercise. Six Swedish elite cross-country skiers, age (mean +/-s.e.m.) 24 +/- 2 years, height 180 +/- 2 cm, weight 74 +/- 2 kg, and maximal oxygen uptake...

  4. BETA-SARCOGLICANOPATIA- uma distrofia muscular das cinturas com diferentes prognósticos

    OpenAIRE

    Dias, Andreia; Taipa, Ricardo; Pires, Melo; Vieira, Emília; Santos, Rosário; Santos, Manuela

    2012-01-01

    As sarcoglicanopatias são um sub grupo das distrofias musculares das cinturas (LGMD) com transmissão autossómica recessiva, que resultam de mutações em uma das subunidades do complexo proteico dos sarcoglicanos (α,β,γ,δ). Este grupo proteico é fundamental para o normal funcionamento da célula muscular, uma vez que pela ligação à distrofina e aos distroglicanos assegura a integridade da membrana durante a contracção muscular e fornece suporte a moléculas sinalizadoras. As β sarcoglicanopatias ...

  5. Evaluacion del componente central y periferico de fatiga muscular en pacientes neuropaticos y miopaticos

    OpenAIRE

    Cohen, L.G.; Marcela E. Panizza; Olga P. Sanz; Schutz,Carlos G.; R. Rey

    1983-01-01

    Utilizando un método de cuantificación del electromiograma, se investigaron parte de los mecanismos centrales y periféricos responsables de la fatiga muscular en enfermos crónicamente denervados y en pacientes con compromiso muscular primitivo. Se observó en los denervados que los mecanismos de fatiga muscular, no difieren mayormente de los observados en el grupo de sujetos sanos, por el contrario, en los miopáticos a más del componente central, existen otros de orden periférico, tales como l...

  6. Amiloidose manifestando-se com pseudo-hipertrofia muscular Amyloidosis presenting as muscle pseudohypertrophy

    OpenAIRE

    Rodrigo Bortoli; Isabella Vargas de Souza Lima; Aristides Cheto de Queiroz; Mittermayer Barreto Santiago

    2007-01-01

    Amiloidose tipo AL é uma doença rara causada pela deposição extracelular de fragmentos de cadeias leves monoclonais em órgãos e tecidos. Pode apresentar-se com uma ampla variedade de sinais e sintomas, e o acometimento cutâneo-muscular, simulando pseudo-hipertrofia muscular, é um achado muito raro. São descritos dois casos que apresentaram tal manifestação. CASO 1 - Mulher, 61 anos, há quatro meses com história de mialgia e aumento da massa muscular nas cinturas pélvica, escapular e região ce...

  7. Anestesia em paciente com Distrofia Muscular de Duchenne: relato de caso

    OpenAIRE

    Tonelli Deoclécio; Pinho Iglair; Sacco Paula de Camargo Neves; Vianna Eduardo Piccinini; Vasconcellos José Correia de; Souza Raquel Vasconcelos de; Umakoshi Sidney

    2003-01-01

    JUSTIFICATIVA E OBJETIVOS: A distrofia muscular de Duchenne é uma afecção recessiva ligada ao cromossomo X, geralmente diagnosticada na infância, acentuando-se progressivamente até agravar a função respiratória. O objetivo deste relato é apresentar um caso de um paciente com distrofia muscular de Duchenne diagnosticada há 2 anos, submetido à postectomia, sob anestesia geral com cetamina S. RELATO DO CASO: Paciente com 9 anos de idade com Distrofia Muscular de Duchenne diagnosticada há 2 anos,...

  8. Qualidade de vida de crianças com distrofia muscular: estudo de dois casos

    OpenAIRE

    Oliveira, Sonia da Silva; Blascovi-Assis,Silvana Maria; Caromano, Fátima Aparecida

    2013-01-01

    RESUMO: A Distrofia Muscular Congênita (DMC) é uma afecção muscular com manifestações clínicas evidentes desde o nascimento ou nos primeiros meses de vida, caracterizada por hipotonia, hipotrofia muscular, retrações fibrotendíneas e deformidades, com aquisições motoras limitadas e raramente alcance da marcha. Por essa característica incapacitante surgem questionamentos acerca da qualidade de vida (QV) destas crianças. Esse estudo objetivou avaliar a qualidade de vida de duas crianças portador...

  9. Formação in-situ ou adição de espinélio pré-formado: o que é melhor para concretos refratários aluminosos? In-situ formation or pre-formed spinel addition: which one is better for high alumina refractory castable?

    Directory of Open Access Journals (Sweden)

    E. Y Sako

    2010-03-01

    Full Text Available O desenvolvimento do setor siderúrgico está intimamente relacionado aos progressos obtidos na produção de refratários. Nas panelas de siderurgia, uma das principais exigências são revestimentos que apresentem excelentes propriedades termomecânicas para suportar os ciclos térmicos, além de uma boa resistência à corrosão e à penetração de escórias básicas. Em concretos refratários aluminosos, essas características são obtidas pela incorporação de espinélio pré-formado ou pela espinelização in-situ, onde nesta segunda rota os óxidos de alumínio e de magnésio reagem entre si em temperaturas elevadas durante o uso do revestimento. O objetivo do presente trabalho foi a análise comparativa e sistêmica destas duas classes de concretos aluminosos espinelizados, visando-se avaliar as diferenças em suas propriedades principalmente após sinterização. Foi observado que os concretos contendo espinélio in-situ apresentaram propriedades mecânicas superiores após queima a 1500 ºC, além de maior variação dimensional. Adicionalmente, o efeito da adição de frações grosseiras de espinélio pré-formado indicou a influência dos agregados sob a estabilidade volumétrica de concretos espinelizados in-situ.Considering that developments on refractories performance are of utmost importance to the steel industry advances, thermo-mechanical properties and the corrosion and slag penetration resistance of the lining material are constantly being improved to extend steel ladle working life. These benefits could be attained in high alumina refractory castable by adding pre-formed spinel or magnesia, in order to result in the latter condition in in-situ spinel during the first use of the lining. The objective of the present work was to compare between high alumina castables with pre-formed or in situ spinel in order to verify their main properties differences. In addition, pre-formed spinel was used as aggregate replacing tabular

  10. Efeitos da fadiga muscular induzida por exercícios no tempo de reação muscular dos fibulares em indivíduos sadios Efectos de la fatiga muscular inducida por ejercicios sobre el tiempo de reacción muscular peronea en individuos sanos Effects of the exercise-induced muscular fatigue on the time of muscular reaction of the fibularis in healthy individuals

    Directory of Open Access Journals (Sweden)

    Bruno Araújo Rego Santos Silva

    2006-04-01

    Full Text Available A fadiga muscular (FM é um fenômeno comum nas atividades esportivas e diárias, resultando numa piora da performance motora. Ela é considerada um dos fatores causadores de lesões músculo-esqueléticas. A entorse de tornozelo é um exemplo: a FM afetaria tanto o sistema aferente quanto o eferente. Vários estudos têm analisado a influência da FM no controle neuromuscular (CNM; entretanto, existe pouca pesquisa sobre essa influência na velocidade de reação dos músculos. O objetivo deste estudo foi verificar os efeitos da FM no tempo de reação muscular (TRM dos músculos fibulares, que são os primeiros a responder a um estresse em inversão do tornozelo. Foram estudados 14 indivíduos saudáveis masculinos (idade: 20-35 anos, que tiveram seus TRM avaliados por meio de eletromiografia (EMG de superfície. O início da atividade muscular foi definido como a média de repouso + 3x o desvio-padrão (DP. O TRM dos fibulares foi mensurado após uma inversão súbita de 20º realizada numa plataforma. A inversão súbita foi realizada antes e depois da fadiga muscular, que foi induzida por exercícios localizados dos fibulares até a exaustão. Os resultados mostraram que houve um aumento significativo do tempo de reação muscular após a fadiga (p La fatiga muscular (FM es un fenómeno común en las actividades diarias, produciendo un empeoramiento de la actuación. Se la considera una de las causas de factores lesionantes musculares de esqueleto. El esguince del tobillo es un ejemplo: La FM afectaría tanto el sistema aferente cuanto el eferente. Varios estudios han estado analizando la influencia de FM en el comando neuromuscular (CNM, sin embargo, la existen pocas investigaciones sobre la influencia en la velocidad de reacción de los músculos. El objetivo de ese estudio era verificar los efectos de FM en el tiempo de reacción muscular (TRM de los músculos peroneos, que son los primeros en responder a una tensión en la inversi

  11. Predicting muscularity-related behavior, emotions, and cognitions in men: The role of psychological need thwarting, drive for muscularity, and mesomorphic internalization.

    Science.gov (United States)

    Edwards, Christian; Tod, David; Molnar, Gyozo; Markland, David

    2016-09-01

    We examine the relationships that internalization, need thwarting (NT), and drive for muscularity (DFM), along with their interactions, had with weightlifting, muscle dissatisfaction (MD), and muscle-related-worry (MRW). A sample of 552 men (MAge=20.5 years, SD=3.1) completed the Psychological Need Thwarting Scale, the Internalization subscale of the male version of the Sociocultural Attitudes Towards Appearance Questionnaire, the Drive for Muscularity Scale-Attitudes subscale, the Male Body Attitudes Scale-Muscularity subscale, the Body Change Inventory-Worry subscale, and an inventory assessing weightlifting behavior. DFM significantly predicted weightlifting, MRW, and MD. Internalization significantly predicted weightlifting and MRW. NT significantly predicted weightlifting and MD, and its relationship with MRW approached significance. The interaction terms did not predict weightlifting or MRW. The NT/DFM and NT/Internalization interaction terms predicted MD. These results highlight the role of NT in predicting appearance variables in men.

  12. Avaliação da força muscular (torque muscular) de flexores e extensores de joelho em indivíduos idosos socialmente ativos

    OpenAIRE

    Wibelinger, Lia Mara

    2007-01-01

    Introdução: O envelhecimento traz consigo várias manifestações fisiológicas, dentre estas a perda de força muscular, assim como a habilidade do músculo para exercer força rapidamente. A partir dos 60 anos de idade esta perda se torna mais severa e é responsável por limitações na funcionalidade, déficits de equilíbrio e risco de quedas. Objetivo: esta pesquisa teve como objetivo avaliar a força muscular (torque muscular) de flexores e extensores de joelho em indivíduos idosos socialmente ativo...

  13. Glycosaminoglycan modifications in Duchenne muscular dystrophy: specific remodeling of chondroitin sulfate/dermatan sulfate

    NARCIS (Netherlands)

    Negroni, E.; Henault, E.; Chevalier, F.; Gilbert-Sirieix, M.; Kuppevelt, T.H. van; Papy-Garcia, D.; Uzan, G.; Albanese, P.

    2014-01-01

    Widespread skeletal muscle degeneration and impaired regeneration lead to progressive muscle weakness and premature death in patients with Duchenne muscular dystrophy (DMD). Dystrophic muscles are progressively replaced by nonfunctional tissue because of exhaustion of muscle precursor cells and exce

  14. Care to child with muscular dystrophies dependent of home technology: mothers´ conception

    Directory of Open Access Journals (Sweden)

    Fabíola Sousa de Oliveira

    2013-05-01

    Full Text Available It was aimed to understand the mother's conception on care to child with muscular dystrophies dependent on technology. Descriptive study with qualitative approach carried out in a children's hospital of the tertiary net in Fortaleza-Ceará, Brazil, as well as in homes of children with muscular dystrophy assisted by the Home Ventilation Assistance Program. The informants were mothers of children with dystrophy aged between zero and four years old, admitted in the Special Patients Unit and assisted by this program. We performed semi-structured interviews and after analysis, the following categories emerged: Care of children with muscular dystrophy and Feelings and expectations of mothers of children with muscular dystrophy. We identified that some mothers consider the child's daily life within the normal patterns, and others report difficulties, creating anxiety and fear of death. Thus, we verify the importance of nurses in the training of these mothers for directed care enabling to overcome stressful moments.

  15. Effect of preseason concurrent muscular strength and high-intensity interval training in professional soccer players.

    Science.gov (United States)

    Wong, Pui-lam; Chaouachi, Anis; Chamari, Karim; Dellal, Alexandre; Wisloff, Ulrik

    2010-03-01

    This study examined the effect of concurrent muscular strength and high-intensity running interval training on professional soccer players' explosive performances and aerobic endurance. Thirty-nine players participated in the study, where both the experimental group (EG, n = 20) and control group (CG, n = 19) participated in 8 weeks of regular soccer training, with the EG receiving additional muscular strength and high-intensity interval training twice per week throughout. Muscular strength training consisted of 4 sets of 6RM (repetition maximum) of high-pull, jump squat, bench press, back half squat, and chin-up exercises. The high-intensity interval training consisted of 16 intervals each of 15-second sprints at 120% of individual maximal aerobic speed interspersed with 15 seconds of rest. EG significantly increased (p aerobic speed test, and maximal aerobic speed. High-intensity interval running can be concurrently performed with high load muscular strength training to enhance soccer players' explosive performances and aerobic endurance.

  16. Umbilical cord mesenchymal stem cell transplantation for the treatment of Duchenne muscular dystrophy

    Institute of Scientific and Technical Information of China (English)

    Xiaofeng Yang; Yanxiang Wu; Xinping Liu; Yifeng Xu; Naiwu Lü; Yibin Zhang; Hongmei Wang; Xin Lü; Jiping Cui; Jinxu Zhou; Hong Shan

    2011-01-01

    Due to their relative abundance, stable biological properties and excellent reproductive activity,umbilical cord mesenchymal stem cells have previously been utilized for the treatment of Duchenne muscular dystrophy, which is a muscular atrophy disease. Three patients who were clinically and pathologically diagnosed with Duchenne muscular dystrophy were transplanted with umbilical cord mesenchymal stem cells by intravenous infusion, in combination with multi-point intramuscular injection. They were followed up for 12 months after cell transplantation. Results showed that clinical symptoms significantly improved, daily living activity and muscle strength were enhanced,the sero-enzyme, electromyogram, and MRI scans showed improvement, and dystrophin was expressed in the muscle cell membrane. Hematoxylin-eosin staining of a muscle biopsy revealed that muscle fibers were well arranged, fibrous degeneration was alleviated, and fat infiltration was improved. These pieces of evidence suggest that umbilical cord mesenchymal stem cell transplantation can be considered as a new regimen for Duchenne muscular dystrophy.

  17. The muscular organization of the stomach of capybara (Hydrochoerus hydrochaeris): an architectural view.

    Science.gov (United States)

    Moraes, Priscilla Teixeira de Barros; de Souza, Wilson Machado; da Silva Neto, Paulo Bezerra; Barretto, Carla Siqueira de Figueiredo; Ribeiro, Antonio Augusto Coppi Maciel

    2005-03-01

    Twenty-two stomachs from adult capybaras were used in this study, and an acid digestion mesoscopic technique was pursued using different concentrations of nitric acid to observe the muscular organization of the stomach. The capybara's stomach possessed a muscular coat composed of four layers or strata: external longitudinal, external oblique, circular and internal oblique. Also, the cardiac and pyloric sphincter muscles were comprised of three or two different layers, respectively. Furthermore, the internal oblique fibres were observed extending from the cardiac portion of the stomach to the smaller curvature, where they participated in the formation of the Ansa cardiaca together with the external longitudinal fibres. This muscular architectural arrangement was compared to that in small rodents (rat, hamster, guinea pig), as well as in rabbits and pigs. In conclusion, the stomach of the capybara has a very particular, complex and defined muscular organization that differs from that in other rodents, or domestic animals, in particular, pigs.

  18. Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity

    NARCIS (Netherlands)

    Longmuir, Susannah Q.; Mathews, Katherine D.; Longmuir, Reid A.; Joshi, Vinayak; Olson, Richard J.; Abramoff, M.D.

    2010-01-01

    Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease beginning with facial and shoulder girdle weakness with variable progression. Exudative retinal detachment, retinal vessel irregularities on fluorescein angiography, and retinal vessel tortuosity have been foun

  19. Reconstruction Approach to a Rare Case of Acquired Scrotal Giant Muscular Hamartoma

    Science.gov (United States)

    Bogetti, Paolo; Rolle, Luigi; Baglioni, Elisabetta Adelaide; Parisi, Andrea; Spaziante, Luca; Rivarossa, Filippo; Ceruti, Carlo; Preto, Mirko; Bocchiotti, Maria Alessandra

    2016-01-01

    Summary: Acquired scrotal giant muscular hamartoma is an uncommon benign lesion with fewer than 10 documented cases all over the world. It is characterized by a proliferation of dermal smooth muscle bundles of scrotum dartos fascia. The authors report a rare case of acquired scrotal giant muscular hamartoma, which occurred in a 70-year-old severely obese and diabetic man presenting with a progressive scrotal enlargement and swelling in the last year, causing marked reduction in quality of life and cosmetic problems. The patient underwent a wide excision of the hamartomatous lesion, and then, a reductive scrotoplasty and autologous skin grafting of penis were performed. Anatomopathological examination showed an acquired scrotal giant muscular hamartoma arising from muscular fascia of dartos. This surgical technique is a valid, safe, effective, and minimally invasive option to treat this pathology, achieving both excellent functional and aesthetic results, with a marked improvement of the patient’s quality of life.

  20. Intermittent prednisone therapy in Duchenne muscular dystrophy : A randomized controlled trial

    NARCIS (Netherlands)

    Beenakker, EAC; Fock, JM; Van Tol, M; Maurits, NM; Koopman, HM; Brouwer, OF; Van der Hoeven, JH

    2005-01-01

    Background: Prednisone treatment is used to prolong ambulation in patients with Duchenne muscular dystrophy (DMD). However, since severe adverse effects often accompany prednisone treatment, it is debatable whether the benefits of prednisone treatment outweigh its adverse effects. Objectives: To stu

  1. Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

    Directory of Open Access Journals (Sweden)

    Kazunari Momma

    Full Text Available Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene.

  2. The effects of exposure to slender and muscular images on male body dissatisfaction.

    Science.gov (United States)

    Galioto, Rachel; Crowther, Janis H

    2013-09-01

    This research examined the effects of appearance-based comparisons to muscular and slender idealized male bodies and the contribution of internalization and social comparison to change in body dissatisfaction. Participants were 111 male undergraduates who completed measures of body dissatisfaction, internalization, and social comparison and viewed images of either muscular or slender men in advertisements or product-only advertisements. Results indicated that exposure to both muscular and slender images was associated with an increase in body dissatisfaction, with no significant differences in the change in body dissatisfaction between the two image conditions. Internalization and trait social comparison were each associated with an increase in body dissatisfaction; however, upward social comparison was only a significant predictor of a change in body dissatisfaction for the males who viewed muscular images. These results highlight the impact of slender models on young men's body dissatisfaction and support the examination of media literacy interventions with this population.

  3. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

    DEFF Research Database (Denmark)

    Vissing, John; Barresi, Rita; Witting, Nanna;

    2016-01-01

    Limb girdle muscular dystrophy type 2A is the most common limb girdle muscular dystrophy form worldwide. Although strict recessive inheritance is assumed, patients carrying a single mutation in the calpain 3 gene (CAPN3) are reported. Such findings are commonly attributed to incomplete mutation...... creatine kinase or myoglobin. Muscle weakness was generally milder than observed in limb girdle muscular dystrophy type 2A, but affected the same muscle groups (proximal leg, lumbar paraspinal and medial gastrocnemius muscles). In some cases, the weakness was severely disabling. The 21-bp deletion did...... affecting the calpain 3 homodimer. This renders patients deficient in calpain 3 as in limb girdle muscular dystrophy type 2A, albeit in a milder form in most cases. Based on findings in 10 families, our study indicates that a dominantly inherited pattern of calpainopathy exists, and should be considered...

  4. Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

    Science.gov (United States)

    Momma, Kazunari; Noguchi, Satoru; Malicdan, May Christine V; Hayashi, Yukiko K; Minami, Narihiro; Kamakura, Keiko; Nonaka, Ikuya; Nishino, Ichizo

    2012-01-01

    Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene.

  5. Drive for muscularity and drive for thinness: the impact of pro-anorexia websites.

    Science.gov (United States)

    Juarez, Lilia; Soto, Ernesto; Pritchard, Mary E

    2012-01-01

    In recent years, websites that stress the message of thinness as the ideal and only choice have surfaced on the internet. The possibility that pro-anorexia websites may reinforce restrictive eating and exercise behaviors is an area of concern. In addition, friends may be influencing one another to view these websites, further contributing to drive for thinness in women and drive for muscularity in men. Three hundred male and female undergraduate psychology students responded to questionnaires assessing: internalization of pro-anorexia website content, internalization of general media content, influence of friends to view pro-anorexia websites, peer influence, drive for muscularity, and drive for thinness. Results showed internalization of pro-anorexia website content was positively correlated with drive for thinness in women, and negatively correlated with drive for muscularity in men. Internalization of pro-anorexia website content was found to be related to both drive for thinness in women and drive for muscularity in men.

  6. Measures of Muscular Strength in U.S. Children and Adolescents, 2012

    Science.gov (United States)

    ... Measures of Muscular Strength in U.S. Children and Adolescents, 2012 Recommend on Facebook Tweet Share Compartir NCHS ... by sex and age group among children and adolescents? There were no significant differences between younger girls ...

  7. Prejunctional Muscarinic Receptors in the Deep Muscular Plexus of Canine Ileum: Comparison with Smooth Muscle Receptors

    Science.gov (United States)

    1992-01-01

    myenteric and submucosal plexuses. activity with axonal varicosities of deep muscular plexus was that is, the negative control of neurotransmitter...from synaptosomes of the myenteric plextis. .J. Neuriochem. 38: MAN. TF. WV.: Interaction of agonists aInd selective antagonists with gastric 501-508...population associated with the deep muscular plexus synaptosomal fraction was linked to the inhibition of adenylate cyclase activity , as demonstrated by a

  8. Effects of systemic hypoxia on human muscular adaptations to resistance exercise training

    OpenAIRE

    Kon, Michihiro; Ohiwa, Nao; Honda, Akiko; Matsubayashi, Takeo; Ikeda, Tatsuaki; Akimoto, Takayuki; Suzuki, Yasuhiro; Hirano, Yuichi; Russell, Aaron P.

    2014-01-01

    Abstract Hypoxia is an important modulator of endurance exercise‐induced oxidative adaptations in skeletal muscle. However, whether hypoxia affects resistance exercise‐induced muscle adaptations remains unknown. Here, we determined the effect of resistance exercise training under systemic hypoxia on muscular adaptations known to occur following both resistance and endurance exercise training, including muscle cross‐sectional area (CSA), one‐repetition maximum (1RM), muscular endurance, and ma...

  9. DNA Damage, Somatic Aneuploidy, and Malignant Sarcoma Susceptibility in Muscular Dystrophies

    OpenAIRE

    2011-01-01

    Albeit genetically highly heterogeneous, muscular dystrophies (MDs) share a convergent pathology leading to muscle wasting accompanied by proliferation of fibrous and fatty tissue, suggesting a common MD-pathomechanism. Here we show that mutations in muscular dystrophy genes (Dmd, Dysf, Capn3, Large) lead to the spontaneous formation of skeletal muscle-derived malignant tumors in mice, presenting as mixed rhabdomyo-, fibro-, and liposarcomas. Primary MD-gene defects and strain background stro...

  10. Advances in gene therapy for muscular dystrophies [version 1; referees: 2 approved

    OpenAIRE

    Hayder Abdul-Razak; Alberto Malerba; George Dickson

    2016-01-01

    Duchenne muscular dystrophy (DMD) is a recessive lethal inherited muscular dystrophy caused by mutations in the gene encoding dystrophin, a protein required for muscle fibre integrity. So far, many approaches have been tested from the traditional gene addition to newer advanced approaches based on manipulation of the cellular machinery either at the gene transcription, mRNA processing or translation levels. Unfortunately, despite all these efforts, no efficient treatments for DMD are currentl...

  11. The Intriguing Regulators of Muscle Mass in Sarcopenia and Muscular Dystrophy

    OpenAIRE

    Sakuma, Kunihiro; Aoi, Wataru; Yamaguchi, Akihiko

    2014-01-01

    Recent advances in our understanding of the biology of muscle have led to new interest in the pharmacological treatment of muscle wasting. Loss of muscle mass and increased intramuscular fibrosis occur in both sarcopenia and muscular dystrophy. Several regulators (mammalian target of rapamycin, serum response factor, atrogin-1, myostatin, etc.) seem to modulate protein synthesis and degradation or transcription of muscle-specific genes during both sarcopenia and muscular dystrophy. This revie...

  12. [A benign variant of the course of Duchenne muscular dystrophy in a child with short stature].

    Science.gov (United States)

    Badalian, L O; Temin, P A; Kamennykh, L N; Zavadenko, N N; Nikanorova, M Iu; Arkhipov, B A; Malygina, N A

    1991-01-01

    The authors describe a case of a benign variety of progressive Duchenne type muscular dystrophy in a 8-year-old short-stature boy. Provide the electromyographic and electroneuromyographic data, measurements of the growth hormone in blood serum and osseous age. Make suggestions about coupled inheritance of progressive Duchenne type muscular dystrophy and short stature . The latter one is likely to be attended by a decrease of anabolic processes, which may determine a more benign course of the myodystrophic process.

  13. Assessment of nervous-muscular system’s potentials of cyclic kinds of sports sportsmen

    OpenAIRE

    Skladanivska I.V.

    2016-01-01

    Purpose: to work out and substantiate methodic of assessment of nervous-muscular system’s potentials of elite sportsmen, representatives of cyclic kinds of sports. Material: in the research sportsmen of cyclic kinds of sports (n = 28) participated. Testing was conducted with the help of ergometer of bicycle type. Results: we present methodic of assessment of nervous-muscular system’s potentials of elite sportsmen with the help of surface electromyography. It was found that sportsmen with high...

  14. Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy.

    Science.gov (United States)

    Schottlaender, Lucia V; Petzold, Axel; Wood, Nicholas; Houlden, Henry

    2015-01-15

    Mutations in the fukutin-related protein (FKRP) gene are a known cause of autosomal recessive limb-girdle muscular dystrophy. Clinically, patients resemble Becker's muscular dystrophy and generally present in the first two decades of life with a mild, progressive phenotype. Cardiac involvement is variable. Heterozygous carriers are usually clinically unaffected. We report a patient presenting later in life with life-threatening cardiac failure and we describe for the first time clinically manifesting carriers in the family.

  15. Nutritional muscular dystrophy in a four-day-old Connemara foal

    Directory of Open Access Journals (Sweden)

    Katz LM

    2009-02-01

    Full Text Available Abstract This report describes a four-day-old, full-term Connemara colt, presented for the evaluation of a progressive inability to rise unassisted. A diagnosis of nutritional muscular dystrophy was made based on muscular weakness, elevated muscle enzymes and low vitamin E, selenium and glutathione peroxidase activity. The foal was treated with intramuscular vitamin E-selenium and made a full recovery.

  16. Influence of the Level of Muscular Redundancy on the Validity of a Musculoskeletal Model.

    Science.gov (United States)

    Moissenet, Florent; Chèze, Laurence; Dumas, Raphaël

    2016-02-01

    While recent literature has clearly demonstrated that an extensive personalization of the musculoskeletal models was necessary to reach high accuracy, several components of the generic models may be further investigated before defining subject-specific parameters. Among others, the choice in muscular geometry and thus the level of muscular redundancy in the model may have a noticeable influence on the predicted musculotendon and joint contact forces. In this context, the aim of this study was to investigate if the level of muscular redundancy can contribute or not to reduce inaccuracies in tibiofemoral contact forces predictions. For that, the dataset disseminated through the Sixth Grand Challenge Competition to Predict In Vivo Knee Loads was applied to a versatile 3D lower limb musculoskeletal model in which two muscular geometries (i.e., two different levels of muscular redundancy) were implemented. This dataset provides tibiofemoral implant measurements for both medial and lateral compartments and thus allows evaluation of the validity of the model predictions. The results suggest that an increase of the level of muscular redundancy corresponds to a better accuracy of total tibiofemoral contact force whatever the gait pattern investigated. However, the medial and lateral contact forces ratio and accuracy were not necessarily improved when increasing the level of muscular redundancy and may thus be attributed to other parameters such as the location of contact points. To conclude, the muscular geometry, among other components of the generic model, has a noticeable impact on joint contact forces predictions and may thus be correctly chosen even before trying to personalize the model.

  17. EFFECTS OF RELAXATION THERAPY IN MANAGEMENT OF MUSCULAR CONTRACTION HEADACHE IN EXECUTIVES

    OpenAIRE

    Mehta, Manju

    1983-01-01

    SUMMARY Five executives suffering from muscular contractions (tension) headache were treated by deep muscular relaxation therapy. Individual sessions were supplemented by practice of relaxation at home, brief relaxation, and cue relaxation during office hours. The effect of therapy, was assessed, by comparing the baseline, pretreatment individual assessment of their behavioral state and self report, with the similar assessment done during and after the successful completion of therapy. The ad...

  18. Computer task performance by subjects with Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Malheiros SRP

    2015-12-01

    Full Text Available Silvia Regina Pinheiro Malheiros,1 Talita Dias da Silva,2 Francis Meire Favero,2 Luiz Carlos de Abreu,1 Felipe Fregni,3 Denise Cardoso Ribeiro,4 Carlos Bandeira de Mello Monteiro1,4,5 1School of Medicine of ABC, Santo Andre, Brazil; 2Department of Medicine, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil; 3Center for Neurosciences, University of São Paulo, São Paulo, Brazil; 4Post-graduate Program in Rehabilitation Sciences, Faculty of Medicine, University of São Paulo, São Paulo, Brazil; 5School of Arts, Sciences and Humanities, University of São Paulo, São Paulo, Brazil Aims: Two specific objectives were established to quantify computer task performance among people with Duchenne muscular dystrophy (DMD. First, we compared simple computational task performance between subjects with DMD and age-matched typically developing (TD subjects. Second, we examined correlations between the ability of subjects with DMD to learn the computational task and their motor functionality, age, and initial task performance.Method: The study included 84 individuals (42 with DMD, mean age of 18±5.5 years, and 42 age-matched controls. They executed a computer maze task; all participants performed the acquisition (20 attempts and retention (five attempts phases, repeating the same maze. A different maze was used to verify transfer performance (five attempts. The Motor Function Measure Scale was applied, and the results were compared with maze task performance.Results: In the acquisition phase, a significant decrease was found in movement time (MT between the first and last acquisition block, but only for the DMD group. For the DMD group, MT during transfer was shorter than during the first acquisition block, indicating improvement from the first acquisition block to transfer. In addition, the TD group showed shorter MT than the DMD group across the study.Conclusion: DMD participants improved their performance after practicing

  19. Effects of stretching on upper-body muscular performance.

    Science.gov (United States)

    Torres, Earlando M; Kraemer, William J; Vingren, Jakob L; Volek, Jeff S; Hatfield, Disa L; Spiering, Barry A; Ho, Jen Yu; Fragala, Maren S; Thomas, Gwendolyn A; Anderson, Jeffrey M; Häkkinen, Keijo; Maresh, Carl M

    2008-07-01

    The purpose of this investigation was to examine the influence of upper-body static stretching and dynamic stretching on upper-body muscular performance. Eleven healthy men, who were National Collegiate Athletic Association Division I track and field athletes (age, 19.6 +/- 1.7 years; body mass, 93.7 +/- 13.8 kg; height, 183.6 +/- 4.6 cm; bench press 1 repetition maximum [1RM], 106.2 +/- 23.0 kg), participated in this study. Over 4 sessions, subjects participated in 4 different stretching protocols (i.e., no stretching, static stretching, dynamic stretching, and combined static and dynamic stretching) in a balanced randomized order followed by 4 tests: 30% of 1 RM bench throw, isometric bench press, overhead medicine ball throw, and lateral medicine ball throw. Depending on the exercise, test peak power (Pmax), peak force (Fmax), peak acceleration (Amax), peak velocity (Vmax), and peak displacement (Dmax) were measured. There were no differences among stretch trials for Pmax, Fmax, Amax, Vmax, or Dmax for the bench throw or for Fmax for the isometric bench press. For the overhead medicine ball throw, there were no differences among stretch trials for Vmax or Dmax. For the lateral medicine ball throw, there was no difference in Vmax among stretch trials; however, Dmax was significantly larger (p static and dynamic condition compared to the static-only condition. In general, there was no short-term effect of stretching on upper-body muscular performance in young adult male athletes, regardless of stretch mode, potentially due to the amount of rest used after stretching before the performances. Since throwing performance was largely unaffected by static or dynamic upper-body stretching, athletes competing in the field events could perform upper-body stretching, if enough time were allowed before the performance. However, prior studies on lower-body musculature have demonstrated dramatic negative effects on speed and power. Therefore, it is recommended that a dynamic

  20. Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach Distrofia muscular de Duchenne e Becker: abordagem molecular e imuno-histoquímica

    OpenAIRE

    Aline Andrade Freund; Rosana Herminia Scola; Raquel Cristina Arndt; Paulo José Lorenzoni; Claudia Kamoy Kay; Lineu Cesar Werneck

    2007-01-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3' region. Deletions were found in 81.5% of t...

  1. Influência da fisioterapia na função motora e histopatologia da fibra muscular esquelética no modelo Golden Retriever Muscular Dystrophy (GRMD)

    OpenAIRE

    Thaís Peixoto Gaiad

    2006-01-01

    Esta pesquisa teve como objetivo investigar a influência da Fisioterapia como coadjuvante no tratamento da Distrofia Muscular de Duchenne. Utilizou-se um protocolo de atividades físicas direcionadas para as alterações músculo-esqueléticas características da patologia, no modelo Golden Retriever Muscular Dystrophy (GRMD), através de uma analogia entre as duas espécies. Foram selecionados seis animais machos e distróficos, do grupo do Canil GRMD / USP. A confirmação da patologia foi realizada p...

  2. Adaptability and Prediction of Anticipatory Muscular Activity Parameters to Different Movements in the Sitting Position.

    Science.gov (United States)

    Chikh, Soufien; Watelain, Eric; Faupin, Arnaud; Pinti, Antonio; Jarraya, Mohamed; Garnier, Cyril

    2016-08-01

    Voluntary movement often causes postural perturbation that requires an anticipatory postural adjustment to minimize perturbation and increase the efficiency and coordination during execution. This systematic review focuses specifically on the relationship between the parameters of anticipatory muscular activities and movement finality in sitting position among adults, to study the adaptability and predictability of anticipatory muscular activities parameters to different movements and conditions in sitting position in adults. A systematic literature search was performed using PubMed, Science Direct, Web of Science, Springer-Link, Engineering Village, and EbscoHost. Inclusion and exclusion criteria were applied to retain the most rigorous and specific studies, yielding 76 articles, Seventeen articles were excluded at first reading, and after the application of inclusion and exclusion criteria, 23 were retained. In a sitting position, central nervous system activity precedes movement by diverse anticipatory muscular activities and shows the ability to adapt anticipatory muscular activity parameters to the movement direction, postural stability, or charge weight. In addition, these parameters could be adapted to the speed of execution, as found for the standing position. Parameters of anticipatory muscular activities (duration, order, and amplitude of muscle contractions constituting the anticipatory muscular activity) could be used as a predictive indicator of forthcoming movement. In addition, this systematic review may improve methodology in empirical studies and assistive technology for people with disabilities.

  3. Muscular forearm activation in hand-grip tasks with superimposition of mechanical vibrations.

    Science.gov (United States)

    Fattorini, L; Tirabasso, A; Lunghi, A; Di Giovanni, R; Sacco, F; Marchetti, E

    2016-02-01

    The purpose of this paper is to evaluate the muscular activation of the forearm, with or without vibration stimuli at different frequencies while performing a grip tasks of 45s at various level of exerted force. In 16 individuals, 9 females and 7 males, the surface electromyogram (EMG) of extensor carpi radialis longus and the flexor carpi ulnari muscles were assessed. At a short latency from onset EMG, RMS and the level of MU synchronization were assessed to evaluate the muscular adaptations. Whilst a trend of decay of EMG Median frequency (MDFd) was employed as an index of muscular fatigue. Muscular tasks consists of the grip of an instrumented handle at a force level of 20%, 30%, 40%, 60% of the maximum voluntary force. Vibration was supplied by a shaker to the hand in mono-frequential waves at 20, 30, 33 and 40Hz. In relation to EMG, RMS and MU synchronization, the muscular activation does not seem to change with the superimposition of the mechanical vibrations, on the contrary a lower MDFd was observed at 33Hz than in absence of vibration. This suggests an early muscular fatigue induced by vibration due to the fact that 33Hz is a resonance frequency for the hand-arm system.

  4. Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies.

    Science.gov (United States)

    Terrill, Jessica R; Radley-Crabb, Hannah G; Iwasaki, Tomohito; Lemckert, Frances A; Arthur, Peter G; Grounds, Miranda D

    2013-09-01

    The muscular dystrophies comprise more than 30 clinical disorders that are characterized by progressive skeletal muscle wasting and degeneration. Although the genetic basis for many of these disorders has been identified, the exact mechanism for pathogenesis generally remains unknown. It is considered that disturbed levels of reactive oxygen species (ROS) contribute to the pathology of many muscular dystrophies. Reactive oxygen species and oxidative stress may cause cellular damage by directly and irreversibly damaging macromolecules such as proteins, membrane lipids and DNA; another major cellular consequence of reactive oxygen species is the reversible modification of protein thiol side chains that may affect many aspects of molecular function. Irreversible oxidative damage of protein and lipids has been widely studied in Duchenne muscular dystrophy, and we have recently identified increased protein thiol oxidation in dystrophic muscles of the mdx mouse model for Duchenne muscular dystrophy. This review evaluates the role of elevated oxidative stress in Duchenne muscular dystrophy and other forms of muscular dystrophies, and presents new data that show significantly increased protein thiol oxidation and high levels of lipofuscin (a measure of cumulative oxidative damage) in dysferlin-deficient muscles of A/J mice at various ages. The significance of this elevated oxidative stress and high levels of reversible thiol oxidation, but minimal myofibre necrosis, is discussed in the context of the disease mechanism for dysferlinopathies, and compared with the situation for dystrophin-deficient mdx mice.

  5. The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy.

    Science.gov (United States)

    Nelson, Leslie; Owens, Hollis; Hynan, Linda S; Iannaccone, Susan T

    2006-06-01

    Spinal muscular atrophy is a genetic disease of the anterior horn cell with high morbidity rate in childhood. Certain drugs may be of benefit and are in or under consideration for Phase II trials. Outcome measures that are age appropriate and representative of disease activity remain under study. Several have not yet been validated for spinal muscular atrophy. The Gross Motor Function Measure is a measure of motor function. We showed previously that the Gross Motor Function Measure is a reliable outcome measure to assess motor function in children with spinal muscular atrophy. By collating our data from 40 spinal muscular atrophy patients, ages 5 through 17 years, we now show the validity of the Gross Motor Function Measure when compared to Quantitative Muscle Testing and ambulatory status in children with spinal muscular atrophy. The median for Gross Motor Function Measure total scores for walkers was 237 (range: 197-261) and for non-walkers, 64 (range: 4-177; PGross Motor Function Measure is valid and sensitive as an outcome measure for clinical trials in pediatric spinal muscular atrophy.

  6. Connective tissue growth factor is overexpressed in muscles of human muscular dystrophy.

    Science.gov (United States)

    Sun, Guilian; Haginoya, Kazuhiro; Wu, Yanling; Chiba, Yoko; Nakanishi, Tohru; Onuma, Akira; Sato, Yuko; Takigawa, Masaharu; Iinuma, Kazuie; Tsuchiya, Shigeru

    2008-04-15

    The detailed process of how dystrophic muscles are replaced by fibrotic tissues is unknown. In the present study, the immunolocalization and mRNA expression of connective tissue growth factor (CTGF) in muscles from normal and dystrophic human muscles were examined with the goal of elucidating the pathophysiological function of CTGF in muscular dystrophy. Biopsies of frozen muscle from patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, congenital muscular dystrophy, spinal muscular atrophy, congenital myopathy were analyzed using anti-CTGF polyclonal antibody. Reverse transcription-polymerase chain reaction (RT-PCR) was also performed to evaluate the expression of CTGF mRNA in dystrophic muscles. In normal muscle, neuromuscular junctions and vessels were CTGF-immunopositive, which suggests a physiological role for CTGF in these sites. In dystrophic muscle, CTGF immunoreactivity was localized to muscle fiber basal lamina, regenerating fibers, and the interstitium. Triple immunolabeling revealed that activated fibroblasts were immunopositive for CTGF and transforming growth factor-beta1 (TGF-beta1). RT-PCR analysis revealed increased levels of CTGF mRNA in the muscles of DMD patients. Co-localization of TGF-beta1 and CTGF in activated fibroblasts suggests that CTGF expression is regulated by TGF-beta1 through a paracrine/autocrine mechanism. In conclusion, TGF-beta1-CTGF pathway may play a role in the fibrosis that is commonly observed in muscular dystrophy.

  7. Muscular subunits transplantation for facial reanimation Transplantes de sub-unidades musculares na reanimação facial

    Directory of Open Access Journals (Sweden)

    André Salo Buslik Hazan

    2006-04-01

    Full Text Available PURPOSE: To present an alternative technique for reconstruction of musculocutaneous damages in the face transferring innervated subsegments(subunits of the latissimus dorsi flap for replacement of various facial mimetic muscles. METHODS: One clinical case of trauma with skin and mimetic muscles damage is described as an example of the technique. The treatment was performed with microsurgical transfer of latissimus dorsi muscle subunits. Each subunit present shape and dimensions of the respective mimetic muscles replaced. The origin, insertions and force vectors for the mimicmuscle lost were considered. Each subsegment has its own arterial and venous supply with a motor nerve component for the muscular unit. RESULTS: Pre and one year postoperative photos registration of static and dynamic mimic aspects, as well as digital electromyography digital data of the patients were compared. The transplanted muscular units presented myoeletric activity, fulfilling both the functional and cosmetic aspect. CONCLUSION: This technique seems to be a promising way to deal with the complex musculocutaneous losses of the face as well as facial palsy.OBJETIVO: Apresentar uma alternativa técnica para reconstrução de perdas músculo-cutâneas na face com a transferência de sub-segmentos(sub-unidades inervados do músculo grande dorsal para a substituição dos diversos músculos da mímica facial. MÉTODOS: É descrito um caso de trauma com perda de pele e músculo da mímica. Foi corrigido com a transferência microcirúrgica de uma sub-unidade de músculo grande dorsal que apresenta, forma, tamanho e peso similares aos dos músculos da mímica. Respeitou-se as origens e inserções e vetores de ação para a mímica desejada. Cada um dos sub-segmentos têm artéria e veia que irrigam a unidade muscular e também um nervo com componente motor. RESULTADOS: O paciente foi avaliado comparando-se o pré e pós-operatório de um ano com foto e vídeo com mímica em

  8. [Muscular fitness and cardiometabolic risk factors among Colombian young adults].

    Science.gov (United States)

    Ramírez-Vélez, Robinson; Meneses-Echavez, José F; González-Ruíz, Katherine; Correa, Jorge Enrique

    2014-10-01

    Objetivo: Determinar la relación entre el fitness muscular (FM) con marcadores de riesgo cardio-metabólico en adultos jóvenes de Colombia. Métodos: Un total de 172 hombres (edad 19,7±2,4 años; peso 65,5±10,7 kg; IMC 22,6±2,8 kg•m-1) sin enfermedad cardiovascular previa fueron invitados a participar en el estudio. El FM se determinó mediante el test de dinamometría prensil y los resultados fueron divididos en cuartiles según los valores de FM y FM/peso corporal. Se calculó el índice lipídico-metabólico según las concentraciones de triglicéridos, c-LDL, c-HDL y glucosa. La circunferencia de cintura (CC), porcentaje de grasa, índice de adiposidad corporal (IAC) e índice de masa corporal (IMC) fueron usados como indicadores de adiposidad. Resultados: Después de ajustar por edad, IMC y CC, se observaron relaciones inversas entre el porcentaje de grasa, la CC, los niveles colesterol, HDL-c y LDL-c, con los valores de FM y FM/peso corporal (p.

  9. Calcium and the damage pathways in muscular dystrophy.

    Science.gov (United States)

    Allen, David G; Gervasio, Othon L; Yeung, Ella W; Whitehead, Nicholas P

    2010-02-01

    Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disease caused by the absence of the cytoskeletal protein dystrophin. Experiments on the mdx mouse, a model of DMD, have shown that mdx muscles are particularly susceptible to stretch-induced damage. In this review, we discuss evidence showing that a series of stretched contractions of mdx muscle fibres causes a prolonged increase in resting intracellular calcium concentration ([Ca2+]i). The rise in [Ca2+]i is caused by Ca2+ entry through a class of stretch-activated channels (SACNSC) for which one candidate gene is TRPC1. We review the evidence for activation of SACNSC in muscle by reactive oxygen species (ROS) and suggest that stretch-induced ROS production is part of the pathway that triggers increased channel activity. When the TRPC1 gene was transfected into C2 myoblasts, expression occurred throughout the cell. Only when the TRPC1 gene was coexpressed with caveolin-3 did the TRPC1 protein express in the membrane. When TRPC1 was expressed in the membrane, it could be activated by ROS to produce Ca2+ entry and this entry was inhibited by PP2, an inhibitor of src kinase. These results suggest that stretched contractions activate ROS production, which activates src kinase. Activity of this kinase causes opening of SACNSC and allows Ca2+ entry. This pathway appears to be a significant cause of muscle damage in DMD.

  10. Muscular metastasis heralding medullary carcinoma of the thyroid

    Directory of Open Access Journals (Sweden)

    Rawdha Tekaya

    2013-09-01

    Full Text Available Medullary thyroid carcinoma (MTC commonly metastasizes locally to the cervical lymph nodes and distantly to the liver, lungs and bones. Metastatic involvement of the muscles is extremely rare. We reported an unusual case of undiagnosed MTC presenting with symptoms related to metastatic lesions of the brachoradialis and the gluteus medius muscles. A 53-year-old man consulted for a painful mass of the right forearm and atrophy of the quadriceps. Ultrasonography revealed a heterogeneous collection in the forearm. Computed tomographic scan showed a mass in the right lung, an enlargement of mediastinal lymph nodes and solid masses in the right gluteus medius and the left iliopoas muscle extending to the left iliac bone. Pulmonary biopsies displayed findings consistent with metastatic MTC. Fine needle aspiration cytology from the right arm swelling revealed a lesion with the same calcitonin immunostaining patterns as the lung metastasis. The diagnosis of multiple metastases (lung, muscle and bone of MTC is established. The patient has received local radiation therapy and was planned for chemotherapy. Muscular metastases from MTC are rare and although their prognosis is poor, local treatment may be worthwhile.

  11. Calcium influx determines the muscular response to electrotransfer

    DEFF Research Database (Denmark)

    Møller, Pernille Højman; Brolin, Camilla; Gissel, Hanne

    2012-01-01

    Cell membrane permeabilization by electric pulses (electropermeabilization), results in free exchange of ions across the cell membrane. The role of electrotransfer-mediated Ca(2+)-influx on muscle signaling pathways involved in degeneration (β-actin and MurF), inflammation (IL-6 and TNF-α), and r......Cell membrane permeabilization by electric pulses (electropermeabilization), results in free exchange of ions across the cell membrane. The role of electrotransfer-mediated Ca(2+)-influx on muscle signaling pathways involved in degeneration (β-actin and MurF), inflammation (IL-6 and TNF...... low-voltage pulse (HVLV), either alone or in combination with injection of DNA. Mice and rats were anesthetized before pulsing. At the times given, animals were killed, and intact tibialis cranialis muscles were excised for analysis. Uptake of Ca(2+) was assessed using (45)Ca as a tracer. Using gene...... expression analyses and histology, we showed a clear association between Ca(2+) influx and muscular response. Moderate Ca(2+) influx induced by HVLV pulses results in activation of pathways involved in immediate repair and hypertrophy. This response could be attenuated by intramuscular injection of EGTA...

  12. Inflammatory response to strenuous muscular exercise in man

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    G. Camus

    1993-01-01

    Full Text Available Based on the humoral and cellular changes occurring during strenuous muscular work in humans, the concept of inflammatory response to exercise (IRE is developed. The main indices of IRE consist of signs of an acute phase response, leucocytosis and leucocyte activation, release of inflammatory mediators, tissue damage and cellular infiltrates, production of free radicals, activation of complement, and coagulation and fibrinolytic pathways. Depending on exercise intensity and duration, it seems likely that muscle and/or associated connective tissue damage, contact system activation due to shear stress on endothelium and endotoxaemia could be the triggering mechanisms of IRE. Although this phenomenon can be considered in most cases as a physiological process associated with tissue repair, exaggerated IRE could have physiopathological consequences. On the other hand, the influence of several factors such as age, sex, training, hormonal status, nutrition, anti-inflammatory drugs, and the extent to which IRE could be a potential risk for subjects undergoing intense physical training require further study.

  13. Current Status of Treatment of Spinal and Bulbar Muscular Atrophy

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    Fumiaki Tanaka

    2012-01-01

    Full Text Available Spinal and bulbar muscular atrophy (SBMA is the first member identified among polyglutamine diseases characterized by slowly progressive muscle weakness and atrophy of the bulbar, facial, and limb muscles pathologically associated with motor neuron loss in the spinal cord and brainstem. Androgen receptor (AR, a disease-causing protein of SBMA, is a well-characterized ligand-activated transcription factor, and androgen binding induces nuclear translocation, conformational change and recruitment of coregulators for transactivation of AR target genes. Some therapeutic strategies for SBMA are based on these native functions of AR. Since ligand-induced nuclear translocation of mutant AR has been shown to be a critical step in motor neuron degeneration in SBMA, androgen deprivation therapies using leuprorelin and dutasteride have been developed and translated into clinical trials. Although the results of these trials are inconclusive, renewed clinical trials with more sophisticated design might prove the effectiveness of hormonal intervention in the near future. Furthermore, based on the normal function of AR, therapies targeted for conformational changes of AR including amino-terminal (N and carboxy-terminal (C (N/C interaction and transcriptional coregulators might be promising. Other treatments targeted for mitochondrial function, ubiquitin-proteasome system (UPS, and autophagy could be applicable for all types of polyglutamine diseases.

  14. Founder effect in spinal and bulbar muscular atrophy (SBMA).

    Science.gov (United States)

    Tanaka, F; Doyu, M; Ito, Y; Matsumoto, M; Mitsuma, T; Abe, K; Aoki, M; Itoyama, Y; Fischbeck, K H; Sobue, G

    1996-09-01

    We analyzed the polymorphic (CAG)n and (GGC)n repeats of the androgen receptor gene in 113 unrelated X-linked spinal and bulbar muscular atrophy (SBMA) X chromosomes and 173 control X chromosomes in Japanese males. The control chromosomes had an average CAG repeat number of 21 +/- 3 with a range from 14-32 repeat units, and SBMA chromosomes had a range from 40-55 with a median of 47 +/- 3 copies. The control chromosomes had seven different alleles of the (GGC)n repeat with the range of 11 to 17; the most frequent size of (GGC)n was 16 (79%), while (GGC)17 was very rare (1%). However, in SBMA chromosomes only two alleles were seen; the most frequent size of (GGC)n was 16 (61%) followed by 17 (39%). (GGC)n size distribution was significantly different between SBMA and control chromosomes (P SBMA patients, which suggests that a founder effect makes a more significant contribution to generation of Japanese SBMA chromosomes than new mutations.

  15. Transgenic mouse models of spinal and bulbar muscular atrophy (SBMA).

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    Katsuno, M; Adachi, H; Inukai, A; Sobue, G

    2003-01-01

    Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by proximal muscle atrophy, weakness, contraction fasciculations, and bulbar involvement. Only males develop symptoms, while female carriers usually are asymptomatic. A specific treatment for SBMA has not been established. The molecular basis of SBMA is the expansion of a trinucleotide CAG repeat, which encodes the polyglutamine (polyQ) tract, in the first exon of the androgen receptor (AR) gene. The pathologic hallmark is nuclear inclusions (NIs) containing the mutant and truncated AR with expanded polyQ in the residual motor neurons in the brainstem and spinal cord as well as in some other visceral organs. Several transgenic (Tg) mouse models have been created for studying the pathogenesis of SBMA. The Tg mouse model carrying pure 239 CAGs under human AR promoter and another model carrying truncated AR with expanded CAGs show motor impairment and nuclear NIs in spinal motor neurons. Interestingly, Tg mice carrying full-length human AR with expanded polyQ demonstrate progressive motor impairment and neurogenic pathology as well as sexual difference of phenotypes. These models recapitulate the phenotypic expression observed in SBMA. The ligand-dependent nuclear localization of the mutant AR is found to be involved in the disease mechanism, and hormonal therapy is suggested to be a therapeutic approach applicable to SBMA.

  16. Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA).

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    Katsuno, Masahisa; Tanaka, Fumiaki; Adachi, Hiroaki; Banno, Haruhiko; Suzuki, Keisuke; Watanabe, Hirohisa; Sobue, Gen

    2012-12-01

    Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by slowly progressive muscle weakness and atrophy. During the last two decades, basic and clinical research has provided important insights into the disease phenotype and pathophysiology. The cause of SBMA is the expansion of a trinucleotide CAG repeat encoding a polyglutamine tract within the first exon of the androgen receptor (AR) gene. SBMA exclusively affects adult males, whereas females homozygous for the AR mutation do not manifest neurological symptoms. The ligand-dependent nuclear accumulation of the polyglutamine-expanded AR protein is central to the gender-specific pathogenesis of SBMA, although additional steps, e.g., DNA binding, inter-domain interactions, and post-translational modification of AR, modify toxicity. The interactions with co-regulators are another requisite for the toxic properties of the polyglutamine-expanded AR. It is also shown that the polyglutamine-expanded AR induces diverse molecular events, such as transcriptional dysregulation, axonal transport disruption, and mitochondrial dysfunction, which play causative roles in the neurodegeneration in SBMA. The pathogenic AR-induced myopathy also contributes to the non-cell autonomous degeneration of motor neurons. Pre-clinical studies using animal models show that the pathogenic AR-mediated neurodegeneration is suppressed by androgen inactivation, the efficacy of which has been tested in clinical trials. Pharmacological activation of cellular defense machineries, such as molecular chaperones, ubiquitin-proteasome system, and autophagy, also exerts neuroprotective effects in experimental models of SBMA.

  17. Inflammation and cardiac dysfunction during sepsis, muscular dystrophy, and myocarditis

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    Ying Li

    2013-12-01

    Full Text Available Inflammation plays an important role in cardiac dysfunction under different situations. Acute systemic inflammation occurring in patients with severe burns, trauma, and inflammatory diseases causes cardiac dysfunction, which is one of the leading causes of mortality in these patients. Acute sepsis decreases cardiac contractility and impairs myocardial compliance. Chronic inflammation such as that occurring in Duchenne muscular dystropshy and myocarditis may cause adverse cardiac remodeling including myocyte hypertrophy and death, fibrosis, and altered myocyte function. However, the underlying cellular and molecular mechanisms for inflammatory cardiomyopathy are still controversial probably due to multiple factors involved. Potential mechanisms include the change in circulating blood volume; a direct inhibition of myocyte contractility by cytokines (tumor necrosis factor (TNF-a, interleukin (IL-1b; abnormal nitric oxide and reactive oxygen species (ROS signaling; mitochondrial dysfunction; abnormal excitation-contraction coupling; and reduced calcium sensitivity at the myofibrillar level and blunted b-adrenergic signaling. This review will summarize recent advances in diagnostic technology, mechanisms, and potential therapeutic strategies for inflammation-induced cardiac dysfunction.

  18. Development and Translation of Therapies for Spinal Muscular Atrophy

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    Hannah K. Shorrock

    2016-07-01

    Full Text Available Spinal muscular atrophy (SMA is an autosomal recessive neuromuscular disorder characterised by widespread loss of lower motor neurons from the spinal cord, leading to progressive weakness and muscle atrophy. SMA is largely caused by homozygous loss of the survival motor neuron (SMN 1 gene, resulting in reduced levels of full-length SMN protein. Although no approved treatment is currently available for SMA, several clinical trials investigating different approaches to increase SMN levels are showing promising early results. Trials investigating the use of therapies targeting muscle strength and neuroprotective pathways are also in progress, generating the possibility of delivering combination therapies utilising both SMN-dependent and SMN-independent targets. Due to an increased understanding of the cellular and molecular consequences of SMN depletion, a second wave of therapies targeted at pathways downstream of SMN are currently undergoing preclinical development. As these therapies move forward towards the clinic, new treatment options are likely to become available, raising the potential to generate an effective ‘cure’ for SMA.

  19. Biomarkers in Rare Disorders: The Experience with Spinal Muscular Atrophy

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    Christina Brahe

    2010-12-01

    Full Text Available Spinal muscular atrophy (SMA is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Based on clinical severity, three forms of SMA are recognized (type I–III. All patients have at least one (usually 2–4 copies of a highly homologous gene (SMN2 which produces insufficient levels of functional SMN protein, due to alternative splicing of exon7. Recently, evidence has been provided that SMN2 expression can be enhanced by different strategies. The availability of potential candidates to treat SMA has raised a number of issues, including the availability of data on the natural history of the disease, the reliability and sensitivity of outcome measures, the duration of the studies, and the number and clinical homogeneity of participating patients. Equally critical is the availability of reliable biomarkers. So far, different tools have been proposed as biomarkers in SMA, classifiable into two groups: instrumental (the Compound Motor Action Potential, the Motor Unit Number Estimation, and the Dual-energy X-ray absorptiometry and molecular (SMN gene products dosage, either transcripts or protein. However, none of the biomarkers available so far can be considered the gold standard. Preclinical studies on SMA animal models and double-blind, placebo-controlled studies are crucial to evaluate the appropriateness of biomarkers, on the basis of correlations with clinical outcome.

  20. Laminin-111: a potential therapeutic agent for Duchenne muscular dystrophy.

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    Goudenege, Sébastien; Lamarre, Yann; Dumont, Nicolas; Rousseau, Joël; Frenette, Jérôme; Skuk, Daniel; Tremblay, Jacques P

    2010-12-01

    Duchenne muscular dystrophy (DMD) still needs effective treatments, and myoblast transplantation (MT) is considered as an approach to repair damaged skeletal muscles. DMD is due to the complete loss of dystrophin from muscles. The lack of link between the contracting apparatus and the extracellular matrix leads to frequent damage to the sarcolemma triggering muscle fiber necrosis. Laminins are major proteins in the extracellular matrix. Laminin-111 is normally present in skeletal and cardiac muscles in mice and humans but only during embryonic development. In this study, we showed that intramuscular injection of laminin-111 increased muscle strength and resistance in mdx mice. We also used laminin-111 as a coadjuvant in MT, and we showed this protein decreased considerably the repetitive cycles of degeneration, inflammatory reaction, and regeneration. Moreover, MT is significantly improved. To explain the improvement, we confirmed with the same myoblast cell batch that laminin-111 improves proliferation and drastically increases migration in vitro. These results are extremely important because DMD could be treated only by the injection of a recombinant protein, a simple and safe therapy to prevent loss of muscle function. Moreover, the improvement in MT would be significant to treat the muscles of DMD patients who are already weak.