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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

    BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration and loss of spinal cord motor neurons leading to denervation and muscular atrophy. It is caused by defects in the Survival Motor Neuron 1 gene (SMN1) and it is classified by age of onset and motor milestones into three main types which strongly correlate with the copy number of its homologous gene, SMN2. SMN2 expresses markedly less full‐length protein than SMN1, provoking disease manifestations...

  2. 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

  3. 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

  4. [Fractures in spinal muscular atrophy].

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    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.

  5. Atrofia muscular progressiva: estudo clínico e laboratorial em onze pacientes Progressive muscular atrophy: clinical and laboratory study in eleven patients

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    Maria Elisabeth Matta de Rezende Ferraz

    2004-03-01

    Full Text Available A atrofia muscular progressiva (AMP é um tipo raro de doença do neurônio motor (DNM com acometimento exclusivo do neurônio motor inferior (NMI e com características clínicas bem definidas. A eletroneuromiografia é o principal exame subsidiário para a realização do diagnóstico, com demonstração de alterações neurogênicas generalizadas, agudas e crônicas. Outras doenças que mimetizam comprometimento do NMI devem ser excluídas através de investigação laboratorial ampla. Neste estudo são apresentados 11 casos de AMP (5,9% de todos os nossos casos de DNM, sendo 9 homens e 2 mulheres. O início dos sintomas ocorreu preferencialmente abaixo dos 50 anos, com média de idade de 45,5 anos. A cãibra foi o sintoma que mais comumente precedeu a fraqueza muscular. Outras queixas preliminares foram dor, fadiga muscular e fasciculações. O padrão mais freqüente de inauguração dos sintomas foi fraqueza muscular assimétrica, preferencialmente nos membros superiores. Com a evolução da doença, todos os pacientes apresentaram comprometimento bulbar. Não foi identificado nenhum fator predisponente para a doença, nem tampouco as evoluções foram distintas entre os casos. Oftalmoparesia e acometimento dos esfíncteres, sinais pouco comuns nas DNMs, foram observados em dois pacientes que se mantiveram por longo tempo em respiração artificial. As terapêuticas imunossupressoras / imunomodulatórias utilizadas (ciclofosfamida, gamaglobulina hiperimune, plasmaferese não tiveram resultado favorável. A doença teve caráter progressivo em todos os casos. Todos os pacientes faleceram, com tempo médio de sobrevida de 44 meses.Progressive muscular atrophy (PMA, an infrequent type of motor neuron disease (MND, is a predominantly lower motor neuron degeneration, causing muscle wasting and weakness with loss of weight and fasciculations. The diagnosis is based on rigid criteria, considering clinical aspects and eletroneuromyography findings

  6. Caracterització fenotípica i assaig terapèutic en models murins transgènics d'atròfia muscular espinal

    OpenAIRE

    Dachs i Cabanas, Elisabet

    2012-01-01

    L’atròfia muscular espinal (AME) és una malaltia d’origen genètic que afecta, majoritàriament a la població infantil. La malaltia cursa amb una mort de les motoneurones  i atròfia muscular. El gen implicat és el survival motor neuron (SMN) que està delecionat en un 95% dels casos. El nostre estudi està dividit en dues parts: 1- l’aprofundiment de les alteracions musculars en dos models animals murins transgènics que pateixen les formes més greus d’AME (Tipus 1-2) i 2- estudi dels possibles e...

  7. 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

  8. La inhibición de las E3 ubiquitin-ligasas, a través de NF-кB y p38, previene la atrofia muscular. Utilidad de la indometacina y el alopurinol

    OpenAIRE

    Ferrando Forés, Beatriz

    2014-01-01

    La atrofia del músculo esquelético se produce como consecuencia de múltiples enfermedades y condiciones crónicas. Así mismo, reduce las opciones de tratamiento y los resultados clínicos positivos, comprometiendo la calidad de vida por un aumento de la morbilidad y la mortalidad. La producción de unos niveles mínimos de fuerza muscular es un requisito para la realización de actividades de la vida diaria tales como levantarse de una silla o subir escaleras. Una persona joven sana es capaz de de...

  9. 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

  10. [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.

  11. 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

  12. 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

  13. 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.

  14. [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].

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    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.

  15. 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.

  16. [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.

  17. Meningitis tras anestesia y analgesia espinal

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    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

  18. 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.

  19. Duchenne muscular dystrophy

    Science.gov (United States)

    Pseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne type ... Duchenne muscular dystrophy is a form of muscular dystrophy . It worsens quickly. Other muscular dystrophies (including Becker's muscular dystrophy ) ...

  20. Muscular dystrophy

    Science.gov (United States)

    ... CPK level Genetic testing for some forms of muscular dystrophy Treatment There are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms. Physical therapy may help ...

  1. 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.

  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

    OpenAIRE

    Flávio R. Alves; Matheus L.T. Feitosa; André Gatti; Leandro Fadel; Silvana M. Unruh; Carlos E. Ambrósio; Franklin A. Sterman; Ana C.B.C.F. Pinto; Miglino, Maria A

    2009-01-01

    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 afe...

  3. 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.

  4. Aplicación de las células madre inducidas al estudio de las enfermedades neurodegenerativas

    OpenAIRE

    Martín Muñiz, Marta

    2013-01-01

    La atrofia muscular espinal es una enfermedad causada por una mutación en el gen SMN1 que conduce a la pérdida de neuronas motoras. Mediante la utilización de células inducidas pluripotenciales se estudiará el papel neuroprotector del GDNF sobre las neuronas motorasen pacientes con esta enfermedad.

  5. 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.

  6. Muscular Dystrophy

    Science.gov (United States)

    ... 1 (DM1) . The International Myotonic Dystrophy Consortium (IDMC). Neurology. Mar 28 2000;54(6):1218-1221. 5. ... Udd B. Distal muscular dystrophies. Handbook of clinical neurology. 2011;101:239-262. 4. Nonaka I. Distal ...

  7. 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.

  8. 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.

  9. 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 ...

  10. 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...

  11. 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-

  12. Muscular dystrophy - resources

    Science.gov (United States)

    Resources - muscular dystrophy ... The following organizations are good resources for information on muscular dystrophy : Muscular Dystrophy Association -- www.mdausa.org National Institute of Neurological Disorders and Stroke -- www.ninds.nih. ...

  13. Myotonic Muscular Dystrophy

    Science.gov (United States)

    ... a Difference How to Get Involved Donate Myotonic Muscular Dystrophy (MMD) Share print email share facebook twitter google plus linkedin Myotonic Muscular Dystrophy (MMD) What is myotonic muscular dystrophy (MMD)? Myotonic ...

  14. Becker muscular dystrophy

    Science.gov (United States)

    ... other family members have been diagnosed with Becker muscular dystrophy Prevention Genetic counseling may be advised if there is a family history of Becker muscular dystrophy. Alternative Names Benign pseudohypertrophic muscular dystrophy; Becker's dystrophy ...

  15. 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.

  16. Estudio sobre la evolución de la atrofia retiniana en pacientes con coriorretinopatía serosa central tratados con terapia fotodinámica

    OpenAIRE

    Sierra Rodríguez, María Ángeles

    2015-01-01

    Estudio sobre la evolución de la atrofia retiniana en pacientes con coriorretinopatía serosa central tratados con terapia fotodinámica. Quermos demostrar la correlación entre la atrofia retiniana posterior al tratamiento de la coriorretinopatía serosa central (CSC) con terapia fotodinámica (TFD) con verteporfina y los distintos factores asociados: edad del paciente, tiempo transcurrido desde el diagnóstico, dosis de verteporfina empleada, número de sesiones necesarias para la completa reab...

  17. Uso de Polietigel® intra-orbitário em paciente com atrofia hemifacial progressiva: relato de caso

    OpenAIRE

    Sampaio Junior Amilton de Almeida; Kafuri Fabrício; Schellini Silvana Artioli; Rossa Romualdo

    2004-01-01

    O objetivo é relatar o caso de portadora de atrofia hemifacial progressiva, atendida na Faculdade de Medicina de Botucatu-UNESP: A paciente do sexo feminino, 43 anos, branca, queixava-se de "afundamento" progressivo do olho esquerdo e região orbitária há aproximadamente 10 anos, com dor na região periorbitária ipsilateral e diminuição da acuidade visual. O exame tomográfico confirmou a hipótese e o tratamento foi feito com injeção de Polietigel® na órbita, com bom resultado estético e melhora...

  18. Muscular Dystrophy (MD)

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Muscular Dystrophy Information Page Clinical Trials Finding the Optimum Regimen ... en Español Additional resources from MedlinePlus What is Muscular Dystrophy? The muscular dystrophies (MD) are a group of ...

  19. 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.

  20. 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...

  1. Development of the Korean Spine Database and Automatic Surface Mesh Intersection Algorithm for Constructing e-Spine Simulator

    OpenAIRE

    Dongmin Seo; Hanmin Jung; Won-Kyung Sung; Dukyun Nam

    2014-01-01

    By 2026, Korea is expected to surpass the UN’s definition of an aged society and reach the level of a superaged society. With an aging population come increased disorders involving the spine. To prevent unnecessary spinal surgery and support scientific diagnosis of spinal disease and systematic prediction of treatment outcomes, we have been developing e-Spine, which is a computer simulation model of the human spine. In this paper, we present the Korean spine database and automatic surface mes...

  2. Los insectos galícolas en Schinus fasciculata (Anacardiaceae en el Espinal del centro de Argentina

    Directory of Open Access Journals (Sweden)

    Melisa Malcolm

    2015-03-01

    Full Text Available La más compleja de las interacciones que plantas e insectos han desarrollado durante el transcurso de su evolución, son las agallas. Las especies de insectos galícolas se encuentran en la mayoría de las regiones biogeográficas, principalmente en ambientes xéricos, de los cuales un ejemplo lo constituye la ecorregión del Espinal, ubicada en la Provincia Biogeográfica de la Pampa, Subregión Chaqueña. Schinus fasciculata (Griseb. I.M. Johnst. (Anacardiaceae es una especie arbórea o arbustiva representativa de la ecorregión del Espinal que presenta diversas agallas entomógenas. Los objetivos del presente trabajo son identificar las especies de insectos que producen agallas en hojas y tallos de Schinus fasciculata en un relicto de Espinal de la provincia de Córdoba y caracterizar exomorfológicamente las agallas. Se seleccionaron 18 ejemplares de S. fasciculata distribuidos en cuatro transectas de 100 m2. Se caracterizaron cinco morfotipos de agallas, tres en hojas, inducidas por insectos del orden Hemiptera y dos en tallos, originadas por insectos del orden Lepidoptera. Los insectos productores de las mismas fueron identificados a nivel de especie y los distintos morfotipos de agallas fueron únicos para cada especie de insecto inductor.

  3. 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

  4. 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

  5. Meaning of Muscular Dystrophy

    Science.gov (United States)

    ... telethon on TV. Every year on this show, celebrities raise money for research and treatment of muscular ... muscle problems start when the person is very young. With other types, symptoms of MD start later, ...

  6. Facioscapulohumeral muscular dystrophy

    Science.gov (United States)

    ... of cases, the parents do not carry the gene. Facioscapulohumeral muscular dystrophy affects about 5 out of 100,000 people. ... Treatment There is no ... worse. Physical therapy may help maintain muscle strength. Other possible treatments ...

  7. 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 ...

  8. 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 ...

  9. FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

    OpenAIRE

    van der Maarel, Silvère M.; Frants, Rune R; Padberg, George W.

    2008-01-01

    Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the development of targeted therapeutic interventions. The genetic defect is a loss of a critical number of a repetitive element (D4Z4) in the 4q subtelomeric region. The loss of the repeats results in ...

  10. Facioscapulohumeral Muscular Dystrophy

    OpenAIRE

    Statland, Jeffrey M; Tawil, Rabi

    2014-01-01

    Facioscapulohumeral muscular dystrophy (FSHSD) is one of the most common adult muscular dystrophies and is divided into types 1 and 2 based on genetic mutation. Clinically both FSHD types 1 and 2 demonstrate often asymmetric and progressive muscle weakness affecting initially the face, shoulder, and arms, followed by the distal and then proximal lower extremities later in the disease course. Approximately 95% of patients, termed FSHD1, have a deletion of a key number of repetitive elements on...

  11. Duchenne muscular dystrophy

    OpenAIRE

    Yiu Eppie; Kornberg Andrew

    2008-01-01

    Duchenne muscular dystrophy (DMD), an X-linked disorder, is the most common muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. Patients usually become wheelchair-bound by the age of 12 years, and die of cardiorespiratory complications in their late teens to early twenties. Advances in the management of DMD, including treatment with corticosteroids and the use of intermittent positive pressure venti...

  12. Atrofia de la grasa facial en los pacientes VIH+. Tratamiento mediante inyección de tejido adiposo autólogo.

    OpenAIRE

    Fontdevila Font, Joan

    2008-01-01

    [spa] La atrofia facial (AF) en pacientes infectados por el VIH es la manifestación más visible de la lipoatrofia (LA) asociada al trastorno de lipodistrofia (LD). Su prevalencia se ha estimado en un 50% de pacientes bajo tratamiento antirretroviral y la etiología es desconocida aunque el tratamiento antirretroviral de gran actividad parece jugar un papel relevante en su patogénesis. El cambio de la fisonomía facial inducido por la LA en los pacientes VIH+ los delata, sintiéndose estigmatizad...

  13. 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

  14. 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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  16. 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.

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

    Directory of Open Access Journals (Sweden)

    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

  18. 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)

  19. How Is Muscular Dystrophy Diagnosed?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications How is muscular dystrophy diagnosed? Skip sharing on social media links Share this: Page Content The first step in diagnosing muscular dystrophy (MD) is a visit with a health care ...

  20. 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...

  1. 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.

  2. 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.

  3. Therapeutic advances in muscular dystrophy

    OpenAIRE

    Leung, Doris G.; Wagner, Kathryn R.

    2013-01-01

    The muscular dystrophies comprise a heterogeneous group of genetic disorders that produce progressive skeletal muscle weakness and wasting. There has been rapid growth and change in our understanding of these disorders in recent years, and advances in basic science are being translated into increasing numbers of clinical trials. This review will discuss therapeutic developments in 3 of the most common forms of muscular dystrophy: Duchenne muscular dystrophy, facioscapulohumeral muscular dystr...

  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. Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Yiu Eppie

    2008-01-01

    Full Text Available Duchenne muscular dystrophy (DMD, an X-linked disorder, is the most common muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. Patients usually become wheelchair-bound by the age of 12 years, and die of cardiorespiratory complications in their late teens to early twenties. Advances in the management of DMD, including treatment with corticosteroids and the use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. The clinical features, investigations, and management of DMD are reviewed, as well as the latest in some of the novel therapies.

  6. Duchenne muscular dystrophy carriers

    International Nuclear Information System (INIS)

    By means of magnetic resonance imaging (MRI), the proton spin-lattice relaxation times (T1 values) of the skeletal muscles were measured in Duchenne muscular dystrophy (DMD) carriers and normal controls. The bound water fraction (BWF) was calculated from the T1 values obtained, according to the fast proton diffusion model. In the DMD carriers, T1 values of the gluteus maximus and quadriceps femoris muscles were significantly higher, and BWFs of these muscles were significantly lower than in normal control. Degenerative muscular changes accompanied by interstitial edema were presumed responsible for this abnormality. No correlation was observed between the muscle T1 and serum creatine kinase values. The present study showed that MRI could be a useful method for studying the dynamic state of water in both normal and pathological skeletal muscles. Its possible utility for DMD carrier detection was discussed briefly. (orig.)

  7. Halofuginone and muscular dystrophy

    OpenAIRE

    Pines, Mark; Halevy, Orna

    2011-01-01

    Muscular dystrophies (MDs) include different inherited diseases that all result in progressive muscle degeneration, impaired locomotion and often premature death. The major focus of MD research has been on alleviating the primary genetic deficit - using gene therapy and myoblast-transfer approaches to promote expression of the deficient or mutated genes in the muscle fibers. Although promising, these approaches have not yet entered into clinical practice and unfortu...

  8. Therapeutic approaches to muscular dystrophy

    OpenAIRE

    Goyenvalle, Aurélie; Seto, Jane T.; Davies, Kay E.; Chamberlain, Jeffrey

    2011-01-01

    Muscular dystrophies are a heterogeneous group of genetic disorders characterized by muscle weakness and wasting. Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy, and although the molecular mechanisms of the disease have been extensively investigated since the discovery of the gene in 1986, there is currently no effective treatment. However, new gene-based therapies have recently emerged with particular noted advances in using conventional gene repla...

  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. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the ...

  12. Genetics Home Reference: tibial muscular dystrophy

    Science.gov (United States)

    ... Names for This Condition tardive tibial muscular dystrophy TMD Udd distal myopathy Udd-Markesbery muscular dystrophy Udd ... titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord. 2008 Dec;18(12):922-8. ...

  13. Limb-girdle muscular dystrophies

    Science.gov (United States)

    ... it may involve other muscles. Causes Limb-girdle muscular dystrophies are a large group of genetic diseases in which there is muscle weakness and ... or a family member has been diagnosed with muscular dystrophy and you are planning a pregnancy. ... Genetic counseling may help some couples and families learn ...

  14. A1 and A2A Adenosine receptors expression in ALS transgenic mice for the human gene SOD1

    OpenAIRE

    Ramos, Gonçalo Luis Monteiro, 1988-

    2012-01-01

    Tese de mestrado. Biologia (Biologia Molecular e Genética). Universidade de Lisboa, Faculdade de Ciências, 2012 A Esclerose Lateral Amiotrópica (ELA) é uma doença progressiva e fatal caracterizada pela degeneração selectiva dos neurónios motores do córtex motor, tronco cerebral e medula espinal, que provoca atrofia muscular, paralesia e morte por falha respiratória. A etiologia da doença continua desconhecida, mas com um consenso de que o dano dos neurónios motores é causado por uma rede d...

  15. 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.

  16. 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.

  17. 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

  18. 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.

  19. Orocaecal transit time in Duchenne muscular dystrophy.

    OpenAIRE

    Korman, S H; Bar-Oz, B.; E. Granot; Meyer, S

    1991-01-01

    Smooth muscle degeneration may occur in Duchenne muscular dystrophy. We measured fasting orocaecal transit time in patients with advanced Duchenne muscular dystrophy and other muscular dystrophies and in healthy controls. No significant differences were found. In contrast to reports of gastric hypomotility in Duchenne muscular dystrophy, we found no evidence of impaired small intestinal motility.

  20. 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...

  1. 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

  2. ¿GOZAN DE TRABAJO DECENTE LAS MUJERES DE LOS SECTORES PÚBLICO Y PRIVADO DE EL ESPINAL-TOLIMA?

    OpenAIRE

    Caballero, Lucas

    2014-01-01

    En el presente documento se procede a analizar de manera específica y concreta las condiciones laborales de la mujer, tanto en el sector público como en el privado, desde una perspectiva local, como lo es el municipiode El Espinal-Tolima. Esta investigación presenta datos del escenario en que las mujeres desempeñan sus actividades de trabajo, referentes a remuneración, nivel de escolaridad, profesiones, cargos, afiliación al sistema de seguridad social integral, entre otras.El artículo expone...

  3. Caracterizacion fisiológica del crecimiento y desarrollo del fruto de mango (mangifera indica l.) variedad van dyke en el municipio de el espinal

    OpenAIRE

    2011-01-01

    El estudio se realizó en la finca Frutol del Municipio de El Espinal, departamento del Tolima, situado a una altura de 431 m.s.n.m., con precipitación, temperatura y Humedad Relativa promedio anual de 1.368 mm / año, 29°C y 70%.   Se realizó el seguimiento de los cambios ocurridos durante el crecimiento y desarrollo del mango Variedad Van Dyke, desde la antesis hasta la madurez fisiológica: Diámetros longitudinal, transversal, el volumen, la gravedad específica, el peso fresco y seco, color ...

  4. 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.

  5. What Are the Types of Muscular Dystrophy?

    Science.gov (United States)

    ... Resources and Publications What are the types of muscular dystrophy? Skip sharing on social media links Share this: ... Content There are more than 30 forms of muscular dystrophy (MD), with information on the primary types included ...

  6. How Do People Cope with Muscular Dystrophy?

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Muscular Dystrophy: Other FAQs Skip sharing on social media links ... in this section. How do people cope with muscular dystrophy (MD)? Although MD presents many challenges in many ...

  7. 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...

  8. Treatment of facioscapulohumeral muscular dystrophy with Denosumab

    OpenAIRE

    Lefkowitz, Stanley S; Doris L. Lefkowitz; Kethley, Jeremy

    2012-01-01

    Summary Background: Facioscapulohumeral muscular dystrophy (FSHD) is the 3rd most common form of muscular dystrophy. Effective treatments for any of the muscular dystrophies have yet to be realized. This report describes such a treatment. Case Report: A 66 year old female was diagnosed with osteoporosis. She had been diagnosed with FSHD muscular dystrophy a number of years previously by both genetic and clinical studies. Following a 2 year course with Forteo for osteoporosis, she was given an...

  9. 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.

  10. Glucocorticoids for Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-07-01

    Full Text Available Investigators at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, and other centers in the UK, conducted a prospective longitudinal study across 17 neuromuscular centers in the UK of 360 boys aged 3-15 years with Duchenne muscular dystrophy who were treated with daily or intermittent (10 days on/10 days off prednisolone for a mean duration of 4 years.

  11. Wasting Mechanisms in Muscular Dystrophy

    OpenAIRE

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

    2013-01-01

    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 ...

  12. 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...

  13. Muscular Dystrophy: Data and Statistics

    Science.gov (United States)

    ... duration and time to loss of ambulation. J Child Neurol. 2015 Sept;30(10):1275-80. Fox DJ, Kumar A, West N, DiRienzo AG, James KA, Oleszek J; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net ). Trends with corticosteroid use in males with ...

  14. 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

  15. Multiple system atrophy: clinical-radiological correlation. Report of two cases Atrofia de múltiplos sistemas: correlação clínico-radiológica. Estudo de dois casos

    Directory of Open Access Journals (Sweden)

    Adolfo V. de Albuquerque

    2007-06-01

    Full Text Available Multiple system atrophy (MSA is a sporadic, neurodegenerative disorder, clinically characterized by parkinsonian, autonomic, cerebellar and pyramidal signs. We describe two patients showing different presentations of the same disease. The patient on case 1 presents features of MSA-C or olivopontocerebellar atrophy with the pontine "cross sign" on brain MRI. The second case reports a patient presenting MSA-P or striatonigral degeneration and the brain MRI shows lenticular nucleus sign alteration. We think that brain MRI might increase the accuracy diagnostic of MSA.A atrofia de múltiplos sistemas (AMS é uma doença neurodegenerativa esporádica caracterizada clinicamente por diferentes combinações de sinais parkinsonianos, autonômicos, cerebelares e piramidais. Descrevemos dois pacientes apresentando diferentes formas clínicas da mesma afecção. O caso 1 tem características da AMS-C ou atrofia olivopontocerebelar, apresentando na ressonância magnética (RM o "sinal da cruz" na ponte. Já o caso 2 tem AMS-P ou degeneração nigro-estriatal, a RM mostra alteração do sinal no núcleo lentiforme entre outras alterações. Acreditamos que a RM cerebral possa contribuir para o melhor diagnóstico da AMS.

  16. 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

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

    Science.gov (United States)

    2014-10-15

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

  18. CT findings of muscular dystrophy

    International Nuclear Information System (INIS)

    CT scans of muscles in patients with limb girdle type (LG), myotonic type (MYD) and Duchenne type (DMD) dystrophies were obtained at five different body levels: the neck, L3 vertebral body, pelvic girdle, thigh and lower leg. CT numbers, cross sectional areas (CSA) and %CSA of muscle or fat were evaluated in each muscle. The characteristic CT patterns for each type of muscular dystrophy were obtained. Compared with DMD, the gracilis and soleus were more severely damaged in LG and the biceps femoris remained relatively preserved among the hamstrings. In addition, the multifidus of the neck and sternocleidomastoid also were more severely damaged in MYD. This study suggests that CT scan will be useful in the differential diagnosis of these types of muscular dystrophy as well as in planning appropriate rehabilitation and detecting damaged muscles. (author)

  19. Arrhythmias in the Muscular Dystrophies

    OpenAIRE

    Rajdev, Archana; William J Groh

    2015-01-01

    In patients with muscular dystrophies, cardiac involvement leading to cardiomyopathy and arrhythmias occur with variable prevalence mirroring the phenotypic variability seen among and within the various hereditary myopathies. These patients are at risk for development for bradyarrhythmias and tachyarrhythmias including sudden cardiac death. Knowledge of the incidence of arrhythmias and predictors of sudden death in the various hereditary myopathies can help guide screening and appropriate man...

  20. 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.

  1. The Muscular Dystrophies: From Genes to Therapies

    OpenAIRE

    Richard M. Lovering; Porter, Neil C; Bloch, Robert J.

    2005-01-01

    The genetic basis of many muscular disorders, including many of the more common muscular dystrophies, is now known. Clinically, the recent genetic advances have improved diagnostic capabilities, but they have not yet provided clues about treatment or management. Thanks to better management strategies and therapeutic interventions, however, many patients with a muscular dystrophy are more active and are living longer. Physical therapists, therefore, are more likely to see a patient with a musc...

  2. Zebrafish orthologs of human muscular dystrophy genes

    OpenAIRE

    Zon Leonard I; Zhou Yi; Pusack Timothy J; Beltre Rosanna; Vogel Emily D; Guyon Jeffrey R; Steffen Leta S; Kunkel Louis M

    2007-01-01

    Abstract Background Human muscular dystrophies are a heterogeneous group of genetic disorders which cause decreased muscle strength and often result in premature death. There is no known cure for muscular dystrophy, nor have all causative genes been identified. Recent work in the small vertebrate zebrafish Danio rerio suggests that mutation or misregulation of zebrafish dystrophy orthologs can also cause muscular degeneration phenotypes in fish. To aid in the identification of new causative g...

  3. 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

  4. Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy

    OpenAIRE

    Garg Ajay; Gulati Sheffali; Gupta Vipul; Kalra Veena

    2004-01-01

    Fukuyama congenital muscular dystrophy (FCMD) is the most common congenital muscular dystrophy in Japan and there are isolated reports of non-Japanese patients with FCMD. We report an Indian patient with congenital muscular dystrophy and characteristic radiological findings similar to those with FCMD.

  5. Uso de Polietigel® intra-orbitário em paciente com atrofia hemifacial progressiva: relato de caso Use of intraorbital Polietigel® in a patient with progressive hemifacial atrophy: case report

    OpenAIRE

    Amilton de Almeida Sampaio Junior; Fabrício Kafuri; Silvana Artioli Schellini; Romualdo Rossa

    2004-01-01

    O objetivo é relatar o caso de portadora de atrofia hemifacial progressiva, atendida na Faculdade de Medicina de Botucatu-UNESP: A paciente do sexo feminino, 43 anos, branca, queixava-se de "afundamento" progressivo do olho esquerdo e região orbitária há aproximadamente 10 anos, com dor na região periorbitária ipsilateral e diminuição da acuidade visual. O exame tomográfico confirmou a hipótese e o tratamento foi feito com injeção de Polietigel® na órbita, com bom resultado estético e melhora...

  6. 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.

  7. 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

  8. Genetics Home Reference: Emery-Dreifuss muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used ...

  9. Genetics Home Reference: limb-girdle muscular dystrophy

    Science.gov (United States)

    ... Health Conditions limb-girdle muscular dystrophy limb-girdle muscular dystrophy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Limb-girdle muscular dystrophy is a term for a group of diseases ...

  10. Genetics Home Reference: LAMA2-related muscular dystrophy

    Science.gov (United States)

    ... Health Conditions LAMA2-related muscular dystrophy LAMA2-related muscular dystrophy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description LAMA2 -related muscular dystrophy is a disorder that causes weakness and wasting ( ...

  11. Genetics Home Reference: Duchenne and Becker muscular dystrophy

    Science.gov (United States)

    ... Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Muscular dystrophies are a group of genetic conditions characterized by ...

  12. Arrhythmias in the muscular dystrophies.

    Science.gov (United States)

    Rajdev, Archana; Groh, William J

    2015-06-01

    In patients with muscular dystrophies, cardiac involvement leading to cardiomyopathy and arrhythmias occurs with variable prevalence, mirroring the phenotypic variability seen among and within the various hereditary myopathies. Knowledge of the incidence of arrhythmias and predictors of sudden death in the various hereditary myopathies can help guide screening and appropriate management of these patients, thereby improving survival. The noncardiac manifestations can lead to delayed recognition of symptoms, affect the decision to implant a prophylactic device, and once a decision is made to proceed with device implant, increase peri-procedural respiratory and anesthesia-related complications. PMID:26002394

  13. 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

  14. Genetics Home Reference: spinal muscular atrophy

    Science.gov (United States)

    ... accumulate and impair the normal function of motor neurons. Other types of spinal muscular atrophy that primarily affect the lower legs and feet and the lower arms and hands are caused by the dysfunction of neurons in the spinal cord. When spinal muscular atrophy ...

  15. Becker muscular dystrophy: an unusual presentation.

    OpenAIRE

    Bush, A; Dubowitz, V

    1993-01-01

    A 15 year old boy who presented with passing painless dark urine was found to have myoglobinuria. His creatine phosphokinase was raised, and a muscle biopsy specimen showed non-specific dystrophic changes. Subsequent DNA analysis led to the diagnosis of Becker muscular dystrophy. Myoglobinuria may be a presenting symptom of Becker muscular dystrophy.

  16. 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.

  17. 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

    OpenAIRE

    Vicente Ballesteros Plaza; Bartolomé Marré Pacheco; Celmira Martínez Aguilar; José Fleiderman Valenzuela; Juan José Zamorano Pérez

    2012-01-01

    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 radi...

  18. 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.

  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. 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.

  1. 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... PARTS § 311.35 Muscular inflammation, degeneration, or infiltration. (a) If muscular lesions are found... carcass shall be condemned. (b) If muscular lesions are found to be distributed in such a manner or to...

  2. 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.

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

    OpenAIRE

    Pradhan Sunil

    2004-01-01

    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 abo...

  5. Limb-Girdle Muscular Dystrophy (LGMD)

    Science.gov (United States)

    ... supported scientists are pursuing several exciting strategies in muscular dystrophy research that have implications for LGMD. These strategies include gene therapy, exon skipping, stop codon-read through and myostatin ...

  6. 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. PMID:23523084

  7. Brain MRI Findings in Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-03-01

    Full Text Available Brain magnetic resonance imaging (MRI findings in 13 patients with congenital muscular dystrophy (MDCIC and Fukutin-related protein (FKRP gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers.

  8. 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...

  9. [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.

  10. Pathophysiology of duchenne muscular dystrophy: current hypotheses.

    OpenAIRE

    Deconinck, Nicolas; Dan, Bernard

    2007-01-01

    Duchenne muscular dystrophy is a devastating inherited neuromuscular disorder that affects one in 3300 live male births. Although the responsible gene and its product, dystrophin, have been characterized for more than 15 years, and a mouse model (mdx) has been developed, comprehensive understanding of the mechanism leading from the absence of dystrophin to the muscular degeneration is still debated. First, dystrophin is considered a key structural element in the muscle fiber, and the primary ...

  11. 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.

  12. Cellular and molecular mechanisms underlying muscular dystrophy

    OpenAIRE

    Rahimov, Fedik; Kunkel, Louis M

    2013-01-01

    The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have been identified that are involved in various muscle-wasting and neuromuscular disorders. Human genetic studies complemented by animal model systems have substantially contributed to our understanding of the molecular pathomechanisms underlying ...

  13. Obstructive apnoeas in Duchenne muscular dystrophy.

    OpenAIRE

    Khan, Y.; Heckmatt, J Z

    1994-01-01

    BACKGROUND--In order to clarify the treatment of sleep hypoxaemias in Duchenne muscular dystrophy polysomnographic studies were performed on patients at home with the purpose of recruiting them into two clinical therapeutic trials. Observations concerning the nature of sleep hypoxaemia in these patients are presented. METHODS--Twenty one non-ambulant patients with Duchenne muscular dystrophy aged 13-23 years with no symptoms of sleep hypoventilation or apnoea were studied for two consecutive ...

  14. Lipoenxertia autóloga no tratamento da atrofia hemifacial progressiva (síndrome de Parry-Romberg: relato de caso e revisão da literatura Autologous fat transplantation for the treatment of progressive hemifacial atrophy (Parry-Romberg syndrome: case report and review of medical literatute

    Directory of Open Access Journals (Sweden)

    Júlio César Garcia de Alencar

    2011-08-01

    Full Text Available A Síndrome de Parry-Romberg, também conhecida como atrofia hemifacial progressiva, é uma doença rara caracterizada por lenta e progressiva atrofia de hemiface. O tratamento ofertado para a síndrome, geralmente, visa melhorar o aspecto estético. Os enxertos gordurosos, as injeções de silicone ou as próteses de acrílico são alternativas sugeridas para correção da atrofia facial. Atualmente, a técnica recomendada para correção da atrofia facial é cirurgia dermatológica cosmética com lipoenxertia autóloga. O objetivo deste estudo é relatar um caso de SPR e demonstrar que a cirurgia dermatológica pode aliviar danos sérios à anatomia do paciente, a partir da discussão dos aspectos terapêuticos da síndrome, com ênfase na lipoenxertia autólogaParry-Romberg syndrome, also known as progressive hemifacial atrophy, is a rare disorder characterized by slow and progressive hemifacial atrophy. The treatment offered for the syndrome generally aims at improving aesthetics. Fat grafts, silicone injections or acrylic prosthesis are alternatives suggested for correction of facial atrophy. Currently, the recommended technique for correction of facial atrophy is cosmetic dermatologic surgery with autologous fat grafting. This study reports a case of Parry-Romberg syndrome and demonstrates that dermatologic surgery can relieve serious damage to the patient's anatomy, starting from the discussion of the therapeutic aspects of the syndrome with emphasis on autologous fat grafting

  15. [The heartache of muscular dystrophy].

    Science.gov (United States)

    Hoogerwaard, E M; Ginjaar, H B; Wilde, A A; Leschot, N J; de Voogt, W G; de Visser, M

    2000-11-11

    Duchenne and Becker muscular dystrophy are caused by a mutation in the dystrophin gene, located on the short arm of the X chromosome. Three so called dystrophinopathy patients, a women aged 54 and two men aged 23 and 21 years, suffered from a severe dilated cardiomyopathy. Such a cardiomyopathy can develop in both carriers and patients. In addition, it is often more important for prognosis than muscle weakness. For these two reasons it is important to screen both groups for (early) cardiological abnormalities. If these are present, regular follow-up is necessary to start timely therapy. When cardiological investigations yield normal results, it is advised to screen carriers with a five-year interval. Dystrophinopathy patients should be checked every year, because the cardiomyopathy sometimes develops and deteriorates over a short period of time. Patients with dilated cardiomyopathy and with a positive family history for dilated cardiomyopathy, muscle weakness or high serum creatine kinase activity should be screened for a mutation in the dystrophin gene. PMID:11103252

  16. 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

  17. 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.

  18. 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

  19. 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

  20. 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.

  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)

    ... myoclonic epilepsy spinal muscular atrophy with progressive myoclonic epilepsy Enable Javascript to view the expand/collapse boxes. ... All Description Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes ...

  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. 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. PMID:27594988

  5. 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.

  6. Cardiac involvement in Duchenne and Becker muscular dystrophy

    OpenAIRE

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

    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 invol...

  7. Muscle biopsy in Pompe disease Biópsia muscular na doença de Pompe

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    2013-05-01

    Full Text Available Pompe disease (PD can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases. Methods: A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases. Results: Vacuoles with or without glycogen storage were found in 18 cases. All cases had increased acid phosphatase activity. The vacuole frequency varied (almost all fibers in the infantile form to only a few in the juvenile/adult form. Atrophy of type 1 and 2 fibers was frequent in all forms. Atrophic angular fibers in the NADH-tetrazolium reductase and nonspecific esterase activity were observed in 4/9 of the juvenile/adult cases. Conclusion: Increased acid phosphatase activity and vacuoles were the primary findings. Most vacuoles were filled with glycogen, and the adult form of the disease had fewer fibers with vacuoles than the infantile or childhood forms.O diagnóstico da doença de Pompe (PD pode ser feito pela dosagem da enzima alfa-glicosidase ou pela mutação do seu gene codificador. A biópsia muscular pode ajudar em casos duvidosos. Métodos: Revisão das biópsias musculares de 19 casos de PD (forma infantil, 6 casos; infantil tardia, 4; e juvenil/adulto, 9. Resultados: Encontrados vacúolos em 18 casos, com ou sem depósito de glicogênio. Todos mostraram aumento da fosfatase ácida. Os vacúolos estavam presentes na maioria das fibras nas formas infantis, menos frequentes nas formas juvenil e mais raros nas formas do adulto. A atrofia de fibras dos tipos 1 e 2 ocorreram em todas as formas. Fibras atróficas na NADH-tetrazolium redutase e esterase não específica foram observadas em 4/9 das formas infantil tardia/adulta. Conclusões: Os dados mais frequentes foram vacúolos, preenchidos por glicogênio com atividade aumentada da fosfatase ácida. A forma adulta apresenta menor número de vacúolos que as formas infantil e infantil

  8. 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.

  9. Dystrophin analysis in the diagnosis of muscular dystrophy.

    OpenAIRE

    Norman, A M; Hughes, H E; Gardner-Medwin, D; Nicholson, L V

    1989-01-01

    We present a family in which the differential diagnosis between X linked Duchenne muscular dystrophy and autosomal recessive Duchenne-like muscular dystrophy was resolved in favour of the latter by analysis of dystrophin, which is the protein product of the Duchenne muscular dystrophy locus.

  10. 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

  11. 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

  12. Muscular and non-muscular contributions to maximum power cycling in children and adults: implications for developmental motor control

    OpenAIRE

    Korff, T; Hunter, EL; Martin, JC

    2009-01-01

    This article is available open access through the publisher’s website at the link below. During submaximal cycling, children demonstrate a different distribution between muscular and non-muscular (gravitational and motion-dependent) forces when compared with adults. This is partly due to anthropometric differences. In this study, we tested the hypothesis that during maximum power cycling, children would construct the task (in terms of the distribution between muscular and non-muscular peda...

  13. Cardiomyopathy in becker muscular dystrophy: Overview

    Science.gov (United States)

    Ho, Rady; Nguyen, My-Le; Mather, Paul

    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. PMID:27354892

  14. 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.

  15. Cardiomyopathy in becker muscular dystrophy: Overview.

    Science.gov (United States)

    Ho, Rady; Nguyen, My-Le; Mather, Paul

    2016-06-26

    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. PMID:27354892

  16. Swivel walkers in Duchenne muscular dystrophy.

    OpenAIRE

    Sibert, J R; Williams, V; Burkinshaw, R; Sibert, S

    1987-01-01

    Swivel walkers were used to provide low energy ambulation in 11 boys with Duchenne muscular dystrophy in schools for the physically handicapped in South Glamorgan. Our preliminary experience suggests that these walkers improve the quality of life and provide a useful part of the physical treatment of the condition.

  17. Genetics Home Reference: facioscapulohumeral muscular dystrophy

    Science.gov (United States)

    ... Padberg GW, Lunt PW, van der Maarel SM. Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: ... Reviewed : August 2014 Published : August 30, 2016 The resources on this site should not be used as a ... of Health & Human Services National Institutes of Health National Library of ...

  18. Hereditary muscular dystrophies and the heart

    NARCIS (Netherlands)

    M.C.E. Hermans; Y.M. Pinto; I.S.J. Merkies; C.E.M. de Die-Smulders; H.J.G.M. Crijns; C.G. Faber

    2010-01-01

    Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial fibres may be affected by the dystrophic process. The incidence and nature of cardiac involvement vary with different t

  19. Merosin/laminin-2 and muscular dystrophy

    DEFF Research Database (Denmark)

    Wewer, U M; Engvall, E

    1996-01-01

    and skin. Merosin is the collective name for laminins that share a common subunit, the laminin alpha 2 chain. Merosin-deficient congenital muscular dystrophy (CMD) is caused by mutations in the laminin alpha 2 chain gene. The skin disease Herlitz junctional epidermolysis bullosa is caused by mutations...

  20. 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…

  1. 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...

  2. Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

    OpenAIRE

    Liew, Wendy K. M.; Kang, Peter B.

    2013-01-01

    Pediatric neuromuscular disorders comprise a large variety of disorders that can be classified based on their neuroanatomical localization, patterns of weakness, and laboratory test results. Over the last decade, the field of translational research has been active with many ongoing clinical trials. This is particularly so in two common pediatric neuromuscular disorders: Duchenne muscular dystrophy and spinal muscular atrophy. Although no definitive therapy has yet been found, numerous active ...

  3. 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

  4. 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.

  5. 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

  6. 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

  7. A study of atriphos (ATP) action on muscular circulation in progressive muscular dystrophy by the radioactive xenon clearance technique

    International Nuclear Information System (INIS)

    The effect of intramuscularly and intravenously adminostered atriphos on the muscular circulation was studied with radioactive xenon in 12 children with progressive muscular dystrophy. After combined local intramuscular injection of ATP (atriphos) with the radioactive marker a 12-fold increment of muscular circulation ensues, lasting about 15 minutes. No vasodilatating effect on the muscular flow was oberved after intravenous injection of 20-40 mg of atriphos. It is believed that intramuscular administration of atriphos produced dilatation of capillaries and of the venous part of the muscular circulation. (author)

  8. 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

  9. [Spinal muscular atrophy in Braunvieh calves].

    Science.gov (United States)

    Stocker, H; Ossent, P; Heckmann, R; Oertle, C

    1992-01-01

    Clinical, neurophysiological and histopathological findings of sixteen cases of spinal muscular atrophy in calves are described. The first clinical signs usually were noticed at 2-6 weeks of age. The animals showed weakness in the hindquarters, trembling and ultimate recumbency. There was a marked muscular atrophy in all four extremities. In addition, secondary bronchopneumonia was evident in 11 cases. Histopathological lesions consisted of degenerative changes in the neurons of the ventral horns and the axons of the spinal cord as well as degeneration of nerve axons in the extremities. Neurophysiological measurements revealed spontaneous activity in the muscles of the limbs. The conditions is autosomal recessive. So far 11 bulls have been identified and excluded from breeding.

  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. RENAL AND MUSCULAR DYSFUNCTION IN SUBCLINICAL HYPOTHYROIDISM

    OpenAIRE

    Mohammed Ali; Sushith; Prathima; Reshma; Madan Gopal; Francis. N. P.

    2015-01-01

    BACKGROUND: Hypothyroidism may result in alteration in renal and muscular functioning resulting in renal failure and myopathies. This study adds to existing literature emphasizing the utility of periodic assessment of renal parameters and creatine kinase in hypothyroid patients. AIM: The aims of this study were to compare parameters of serum creatinine, creatinine clearance and serum creatine kinase in subclinical hypothyroid cases. MATERIALS AND METHODS: This case control...

  12. Targeting Fibrosis in Duchenne Muscular Dystrophy

    OpenAIRE

    Zhou, Lan; Lu, Haiyan

    2010-01-01

    Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease affecting 1 in 3,500 live male births. It is an X-linked recessive disease caused by a defective dystrophin gene. The disease is characterized by progressive limb weakness, respiratory and cardiac failure and premature death. Fibrosis is a prominent pathological feature of muscle biopsies from patients with DMD. It directly causes muscle dysfunction and contributes to the lethal DMD phenotype. Although gene therapy an...

  13. Recent advances in Duchenne muscular dystrophy

    OpenAIRE

    Perkins KJ; Davies KE

    2012-01-01

    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 t...

  14. New therapies for muscular dystrophy: cautious optimism

    OpenAIRE

    Cossu, G.; Sampaolesi, Maurilio

    2004-01-01

    The quest for a therapy for muscular dystrophy has been the driving force behind the past 40 years of advances in this field. Numerous results, such as the identification of satellite cells and gene mutations that are responsible for most forms of dystrophies, advances in gene transfer and modification technology and, more recently, stem cells, have fueled hopes. However, administering cortical-steroids still remains the only effective treatment available. Several recent advances have uncover...

  15. Molecular Therapeutic Strategies Targeting Duchenne Muscular Dystrophy

    OpenAIRE

    Mendell, Jerry R.; Rodino-Klapac, Louise R.; Malik, Vinod

    2010-01-01

    Since discovery of the gene for Duchenne muscular dystrophy more than 20 years ago, scientists have worked to apply molecular principles for restoration of the dystrophin protein and correction of the underlying physiologic defect that predisposes muscle fibers to injury. Recent studies provide realistic hope that molecular therapies may help patients who have this disorder. At present only corticosteroids can improve walking ability and increase quality of life for boys with this disease. Th...

  16. Epigenetic Mechanisms of Facioscapulohumeral Muscular Dystrophy

    OpenAIRE

    de Greef, Jessica C; Frants, Rune R; van der Maarel, Silvère M.

    2008-01-01

    Facioscapulohumeral muscular dystrophy (FSHD) seems to be caused by a complex epigenetic disease mechanism as a result of contraction of the polymorphic macrosatellite repeat D4Z4 on chromosome 4qter. Currently, the exact mechanism causing the FSHD phenotype is still not elucidated. In this review, we discuss the genetic and epigenetic changes observed in patients with FSHD and the possible disease mechanisms that may be associated with FSHD pathogenesis.

  17. Targeting Latent TGFβ release in muscular dystrophy

    OpenAIRE

    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.

    2014-01-01

    Latent 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 proteolyzed, and that proteolysis could be blocked by an antibody to the hinge region. Transgenic mice were generated to carry a bacterial artificial chromos...

  18. Genetic counselling in facioscapulohumeral muscular dystrophy.

    OpenAIRE

    Lunt, P W; Harper, P S

    1991-01-01

    Clinical data are presented from a survey of 41 families with dominantly inherited facioscapulohumeral muscular dystrophy (FSHD) in which over 500 family members were examined, including 168 affected subjects. New mutation could account for six isolated cases. Results suggest that 33% of heterozygotes over 40 years are mildly affected and a majority develop significant lower limb weakness; 19% over 40 years require wheelchairs. Presymptomatic testing of serum creatine kinase level (CK) is lim...

  19. Natural history of Duchenne muscular dystrophy

    OpenAIRE

    KE, QING; ZHANG Li

    2015-01-01

    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 diagnosi...

  20. Optimizing Bone Health in Duchenne Muscular Dystrophy

    OpenAIRE

    Buckner, Jason L.; Bowden, Sasigarn A.; Mahan, John D

    2015-01-01

    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 serio...

  1. Duchenne Muscular Dystrophy: From Diagnosis to Therapy

    OpenAIRE

    Maria Sofia Falzarano; Chiara Scotton; Chiara Passarelli; Alessandra Ferlini

    2015-01-01

    Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. The molecular diagnostic of DMD involves a deletions/duplications analysis performed by quantitative technique such as microarray-based comparative genomic hybridization (array-CGH), Multiple Ligation Probe Assay ...

  2. Management of myocardial damage in muscular dystrophy

    International Nuclear Information System (INIS)

    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. (author)

  3. 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

  4. Threatened masculinity and muscularity: an experimental examination of multiple aspects of muscularity in men.

    Science.gov (United States)

    Hunt, Christopher John; Gonsalkorale, Karen; Murray, Stuart B

    2013-06-01

    Two studies examined the threatened masculinity theory of male body dissatisfaction, which posits that threats to masculinity result in increased muscle dissatisfaction. In Study 1, a masculinity threat was followed by tasks examining confidence in physical ability and perceptions of current and ideal body shapes. Results showed that men who experienced a masculinity threat reported lower confidence in their physical ability and perceived themselves as less muscular than men who experienced an affirmation of their masculinity. In Study 2, men were asked to report their intention to increase muscularity and their appearance anxiety following a threat to masculinity. Results showed that men reported lower appearance anxiety and drive for muscularity when their masculinity was threatened than when their masculinity was affirmed. This apparent contradiction can be explained by noting that men may be motivated to deny appearance concerns following a threat to masculinity, as such concerns are equated with femininity.

  5. 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.

  6. 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. PMID:24183132

  7. 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

  8. Stem cell transplantation for treating Duchenne muscular dystrophy

    OpenAIRE

    Yang, Xiaofeng

    2012-01-01

    OBJECTIVE: To identify global research trends in stem cell transplantation for treating Duchenne muscular dystrophy using a bibliometric analysis of Web of Science. DATA RETRIEVAL: We performed a bibliometric analysis of studies on stem cell transplantation for treating Duchenne muscular dystrophy from 2002 to 2011 retrieved from Web of Science. SELECTION CRITERIA: Inclusion criteria: (a) peer-reviewed published articles on stem cell transplantation for treating Duchenne muscular dystrophy in...

  9. Gene Therapy for Muscular Dystrophy: Moving the Field Forward

    OpenAIRE

    Al-Zaidy, Samiah; Rodino-Klapac, Louise; Mendell, Jerry R.

    2014-01-01

    Gene therapy for the muscular dystrophies has evolved as a promising treatment for this progressive group of disorders. While corticosteroids and/or supportive treatments remain standard of care for Duchenne muscular dystrophy (DMD), loss of ambulation, respiratory failure and compromised cardiac function is the inevitable outcome. Recent developments in genetically mediated therapies have allowed for personalized treatments that strategically target individual muscular dystrophy subtypes bas...

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

    OpenAIRE

    Swaggart, Kayleigh A.; Heydemann, Ahlke; Palmer, Abraham A.; McNally, Elizabeth M.

    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...

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

    OpenAIRE

    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 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...

  12. Therapeutic Targeting of Signaling Pathways in Muscular Dystrophy

    OpenAIRE

    Bhatnagar, Shephali; Kumar, Ashok

    2009-01-01

    Muscular dystrophy refers to a group of genetic diseases that cause severe muscle weakness and loss of skeletal muscle mass. Although research has helped understanding the molecular basis of muscular dystrophy, there is still no cure for this devastating disorder. Numerous lines of investigation suggest that the primary deficiency of specific proteins causes aberrant activation of several cell signaling pathways in skeletal and cardiac muscle leading to the pathogenesis of muscular dystrophy....

  13. Approaching a new age in Duchenne muscular dystrophy treatment

    OpenAIRE

    Wagner, Kathryn R.

    2008-01-01

    Duchenne muscular dystrophy is the most common and severe form of muscular dystrophy. The cornerstones of current treatment include corticosteroids for skeletal muscle weakness, afterload reduction for cardiomyopathy, and noninvasive ventilation for respiratory failure. With these interventions, patients are walking and living longer. However, the current status is still far from adequate. Increased private and federal funding of studies in Duchenne muscular dystrophy has led to a large numbe...

  14. Cardiac involvement in children with neuro-muscular disorders

    OpenAIRE

    E. N. Arkhipova

    2015-01-01

    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-gir...

  15. Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series

    OpenAIRE

    Buckley, A.; Dean, J.; Mahy, I

    1999-01-01

    Three patients with Emery Dreifuss muscular dystrophy are reported. Emery Dreifuss muscular dystrophy is an X linked muscular dystrophy, in which locomotor involvement is characteristically mild and slowly progressive. The effect on the heart becomes apparent in the teenage years and is characterised by cardiac conduction defects and infiltration of the myocardium by fibrous and adipose tissue. It first affects the atria, which results in atrial paralysis; treatment with ventricular pacing is...

  16. 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

  17. Força e arquitetura muscular do gémeo interno na bomba muscular venosa

    OpenAIRE

    Peixoto, Flávia; Pinto, Ângela; Kozlova, Veronika; Crisóstomo, Rute

    2015-01-01

    Objetivo: Avaliar e comparar a Força Muscular (FM), Amplitude de Movimento (ADM) e Arquitetura Muscular da bomba muscular venosa em sujeitos com e sem Insuficiência Venosa Crónica (IVC). Relevância: A IVC provoca alterações na função da bomba muscular venosa, no entanto, pouco se conhece acerca das suas repercussões físicas e funcionais. Amostra: Sujeitos com IVC (alterações da tróficas, e úlcera ativa/cicatrizada) e saudáveis. Foram avaliados 33 sujeitos dos quais foram analis...

  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. 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.

  20. [Treatment progress of Duchenne Muscular Dystrophy (DMD)].

    Science.gov (United States)

    Smogorzewska, Elzbieta Monika; Weinberg, Kenneth I

    2004-01-01

    Duchenne muscular dystrophy (DMD) is a common lethal disease for which no effective treatment is currently available. There exists a mouse model of the disease in which the usefulness of gene therapy was established. However, no progress towards human application was made due to the lack of a proper method for gene delivery. During the past several years, researchers acquired data which led them to believe that bone marrow stem cells are capable of generating not only blood cells, but also liver, heart, skin, muscle, and other tissue. Although the term "stem cell plasticity" became very popular, other studies have suggested that bone marrow might contain different types of stem cells that can produce non-hematopoietic cells. For example, mesenchymal stem cell (MSC) in bone marrow give rise to osteocytes, chondrocytes, adipocytes, and skeletal muscle. Recently, researchers have been able to show that transplanted bone marrow cells can contribute to muscle cells in a human patient who was diagnosed with two genetic diseases: severe combined immunodeficiency (SCID) and Duchenne muscular dystrophy. The odds of this happening is estimated at one in seven million. The results of studying this patient's medical history were reported by collaborating researchers at Children's Hospital, Los Angeles and Children's Hospital, Boston in an article titled "Long-term persistence of donor nuclei in a Duchenne muscular dystrophy (DMD) patient receiving bone marrow transplantation" published in the September 2002 issue of the Journal of Clinical Investigation. This patient was transplanted 15 years ago at Children's Hospital Los Angeles with paternal HLA-haploidentical T cell-depleted bone marrow. He engrafted and became a hematopoietic chimera having T and NK lymphocytes of donor origin. Studies performed on the muscle biopsy from the patient 13 years after transplantation demonstrated that the muscle showed evidence of donor derived nuclei. In addition, analysis of his bone marrow

  1. 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...

  2. 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. PMID:21652783

  3. Potenciales Evocados Somatosensitivos obtenidos por estimulación del nervio Tibial (registros espinal y craneano en caninos Somatosensory Evoked Potentials Obtained by Stimulating the Tibial Nerve (Spinal Cord and Cranial Recordings in Dogs

    Directory of Open Access Journals (Sweden)

    F.C Pellegrino

    2005-12-01

    Full Text Available Se investigaron los PESS espinal y craneano y su génesis por estimulación del nervio tibial en 22 perros sanos cuya edad promedio fue de 7 años. La velocidad de conducción (VC del nervio surgió del cociente entre la distancia desde el estímulo al registro espinal y la latencia del pico negativo de la onda registrada. Se obtuvo el tiempo de conducción central (TCC midiendo la diferencia entre las latencias de los potenciales craneano y espinal. Se emplearon electrodos de aguja entre L7-S1 y L5- L6, y en la piel del cráneo. El potencial espinal en L7-S1 muestra 3 potenciales sucesivos, el primero trifásico con la primera deflexión positiva (P1-N1-P2, seguido de un gran potencial negativo/positivo (N2-P3 finalizando con uno pequeño negativo/positivo (N3-P4. La latencia media al pico negativo N2 fue 6.21+/-1.44ms. La media para la VC fue 59.03+/-8.56m/s. En L5-L6 el potencial es positivo/ negativo/positivo. El potencial craneano tuvo forma de "w". La latencia media al pico negativo fue de 20.46+/-3.15ms. El TCC medio fue 12.06+/-2.28ms. Los potenciales sucesivos en L7-S1 probablemente surjan de la actividad a nivel del ganglio espinal, la raíz dorsal y el cuerno medular, mientras que en L5- L6 sea debido a la sumación espacial de la actividad de distintas estructuras ubicadas en el sitio de registro. La actividad a nivel craneano podría deberse a la acción de las conexiones tálamo-corticales y de la corteza somatosensitiva.We investigated SSEPs in 22 normal dogs of both sexes (12 females, aged between 3 and 14 years (mean: 7 +/- 4 years old by recording the electrical signal at the spinal cord (L7-S1 and L5-L6 and at the scalp (frontoparietal region in response to tibial nerve stimulation. Conduction velocity (CV of tibial nerve and its roots was calculated, measuring the distance between the stimulating cathode and the recording electrode, and dividing it into the latency of the of the spinal cord arrival corresponding negative peak

  4. Potenciales Evocados Somatosensitivos (PESS obtenidos por estimulación del nervio Mediano (registros espinal y craneano en caninos Somatosensory Evoked Potentials Obtained by Stimulating the Median Nerve (Spinal Cord and Cranial Recordings in Dogs

    Directory of Open Access Journals (Sweden)

    F.C Pellegrino

    2005-12-01

    Full Text Available Se investigaron los PESS espinal y craneano y su génesis por estimulación del nervio mediano en 22 perros sanos cuya edad promedio fue 7 años. La velocidad de conducción (VC del nervio surgió del cociente entre la distancia desde el estímulo al registro espinal y la latencia del pico negativo de la onda obtenida. Se obtuvo el tiempo de conducción central (TCC midiendo la diferencia entre las latencias de los potenciales craneano y espinal. Se emplearon electrodos de aguja entre C7-T1 y en la piel del cráneo contralateralmente al estímulo. El potencial espinal mostró una primera deflexión positiva, seguida por una negativa finalizando con una positiva.La latencia media al pico negativo fue de 4.95+/-0.92ms. La media para la VC del nervio fue 60.79+/-13.53m/s. El potencial craneano tuvo forma de "w". La latencia media al pico negativo fue de 14.62+/-1.83ms. El TCC medio fue de 9.67+/-2.02ms. En 6 perros la estimulación se hizo también más distalmente, permitiendo medir la VC segmentaria del nervio; la media obtenida fue de 59.83+/-21.44m/s, que no difirió significativamente de la primera. El potencial espinal probablemente surja de la sumación espacial de la actividad de diferentes estructuras ubicadas en el lugar del registro, mientras que el obtenido en el cráneo sea debido a la acción de las conexiones tálamo-corticales y de la corteza de recepción.We investigated SSEPs in 22 normal dogs of both sexes (12 females, aged between 3 and 14 years (mean: 7 +/- 4 years old by recording the electrical signal at the spinal cord (L7-S1 and L5-L6 and at the scalp (frontoparietal region in response to median nerve stimulation. Conduction velocity (CV of median nerve and its roots was calculated, measuring the distance between the stimulating cathode and the recording electrode, and dividing it into the latency of the of the spinal cord arrival corresponding negative peak. Central conduction time (CCT was estimated subtracting the

  5. Upper limb function in adults with Duchenne muscular dystrophy

    NARCIS (Netherlands)

    B. Bartels (Bart); R.F. Pangalila; M.P. Bergen (Michael); N.A.M. Cobben (Nicolle); H.J. Stam (Henk); M.E. Roebroeck (Marij)

    2011-01-01

    textabstractTo determine upper limb function and associated factors in adults with Duchenne muscular dystrophy. Design: Cross-sectional study. Subjects: A sample of 70 men with Duchenne muscular dystrophy (age range 20-43 years). Methods: General motor function and, in particular, upper limb distal

  6. Primary muscular hydatid: preoperative diagnosis Throught computerized tomography and ultrasonography

    International Nuclear Information System (INIS)

    Primary muscular hydatid disease, is extremely rare,- but not exceptional-, comparatively with other atypical localization. In this article the authors revised 474 patients with hydatid disease over a ten years period. Three cases of primary muscular localization were found. The ultrasonography and computed tomography facilitates the preoperative diagnosis. (Author) 40 refs

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    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...

  8. 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.)

  9. Purloined Mechanisms of Bacterial Immunity Can Cure Muscular Dystrophy

    OpenAIRE

    Tidball, James G.; Bertoni, Carmen

    2014-01-01

    Myriad strategies have been explored to compensate for the lack of dystrophin or to skip mutations that cause the lethal disease Duchenne muscular dystrophy (DMD). A new study shows that gene editing strategies used by bacteria can be applied in zygotes of a mouse model of DMD to correct the genetic defect that causes muscular dystrophy (Long et al., 2014).

  10. 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…

  11. 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.)

  12. 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.

  13. Limb girdle muscular dystrophies: The clinicopathological viewpoint

    Directory of Open Access Journals (Sweden)

    Urtizberea J

    2007-01-01

    Full Text Available Limb girdle muscular dystrophies (LGMD are characterized by involvement of the pelvic and shoulder girdles, classically with an onset in the second or third decade and a slow progression as opposed to Duchenne muscular dystrophy. In fact, there are many clinical variants that are related to this broad definition. For the past 13 years and since the discovery of calpain-3 as the underlying defect in LGMD 2A in 1995, a number of different genes have been found to cause LGMD; some of whose encoding proteins are located either in the sarcolemma, nucleus, cytosol or in the extra-cellular matrix. Very little is known regarding a possible common pathogenesis between all these entities. The current nomenclature of LGMDs, although a bit confusing, is still necessary to continue the establishment of homogeneous cohorts of patients and to look for unknown genes. The diagnosis of LGMD is nowadays based on a complementary clinical, immunocytochemical and genetic approach that is best achieved in specialized myology centers. In this context, India can make a significant contribution to improve the routine diagnosis in LGMD patients and to find new LGMD genes in genetic isolates. Therapeutic prospects in LGMD, although quite exciting, remain at a preliminary stage, especially those with gene-therapy orientation.

  14. Muscle MRI findings in facioscapulohumeral muscular dystrophy

    International Nuclear Information System (INIS)

    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.)

  15. Developments in gene therapy for muscular dystrophy.

    Science.gov (United States)

    Hartigan-O'Connor, D; Chamberlain, J S

    Gene therapy for muscular dystrophy (MD) presents significant challenges, including the large amount of muscle tissue in the body, the large size of many genes defective in different muscular dystrophies, and the possibility of a host immune response against the therapeutic gene. Overcoming these challenges requires the development and delivery of suitable gene transfer vectors. Encouraging progress has been made in modifying adenovirus (Ad) vectors to reduce immune response and increase capacity. Recently developed gutted Ad vectors can deliver full-length dystrophin cDNA expression vectors to muscle tissue. Using muscle-specific promoters to drive dystrophin expression, a strong immune response has not been observed in mdx mice. Adeno-associated virus (AAV) vectors can deliver small genes to muscle without provocation of a significant immune response, which should allow long-term expression of several MD genes. AAV vectors have also been used to deliver sarcoglycan genes to entire muscle groups. These advances and others reviewed here suggest that barriers to gene therapy for MD are surmountable. PMID:10679969

  16. 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.

  17. 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

  18. 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

  19. 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

  20. 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

    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......-I and in 14 of 30 patients (47%) with BMD. Only a few patients with LGMD2A and unclassified LGMD2 had mild cardiac involvement, whereas 29% and 67% of patients with LGMD2I and LGMD2E, respectively, had cardiac involvement. Cardiac involvement was not correlated with age, muscle strength, or the level...... 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....

  1. Microdystrophin Ameliorates Muscular Dystrophy in the Canine Model of Duchenne Muscular Dystrophy

    OpenAIRE

    Shin, Jin-Hong; Pan, Xiufang; Hakim, Chady H.; Yang, Hsiao T.; Yue, Yongping; Zhang, Keqing; Ronald L Terjung; Duan, Dongsheng

    2013-01-01

    Dystrophin deficiency results in lethal Duchenne muscular dystrophy (DMD). Substituting missing dystrophin with abbreviated microdystrophin has dramatically alleviated disease in mouse DMD models. Unfortunately, translation of microdystrophin therapy has been unsuccessful in dystrophic dogs, the only large mammalian model. Approximately 70% of the dystrophin-coding sequence is removed in microdystrophin. Intriguingly, loss of ≥50% dystrophin frequently results in severe disease in patients. T...

  2. 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.

  3. 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. PMID:19080757

  4. Fibroblast cultures in duchenne muscular dystrophy

    International Nuclear Information System (INIS)

    Primary skin fibroblast cultures were grown from forearm pinch skin biopsies obtained from 24 patients with Duchenne muscular dystrophy (DMD) and ten normal controls matched for sex and age. The first subcultures were grown for 7 days and incubated with L-(3H)-proline for 24 hours. Intracellular collagen incoption was significantly decreased (2.2 X) and extracellular collagen incorporation significantly increased (1.8 X) in fibroblast cultures from patients with DMD by both collagenase assay and polyacrylamide gel electrophoresis. The synthesis of noncollagen proteins showed low values from the DMD fibroblast cultures. The alterations in synthesis and secretion of collagen and noncollagen proteins were characteristic only for the log phase of DMD fibroblasts. (author)

  5. 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

  6. 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.

  7. [Vitamin D: skeletal and muscular effects].

    Science.gov (United States)

    Thomas, Thierry; Briot, Karine

    2013-10-01

    Insufficient serum levels of 25-hydroxyvitamin D [25(OH)D] is a risk factor for osteoporosis. A new paradigm is emerging with the locally synthesized 1,25(OH)2D within osteoblasts and osteoclasts as the essential pathway for the effects of 25(OH)D in regulating bone remodeling via direct or indirect activation of the specific receptor VDR. Vitamin D has positive effects on fracture risk, muscular function and risk of falls; these effects are observed when serum levels of 25(OH)D are above 30 ng/ml (75 nmol/l). Vitamin D dosing interval may be relevant for reducing the risk of fracture, with evidence suggesting positive effects with short intervals of 3 months or less. It is recommended to maintain an optimal serum level of 25(OH)D when managing patients with osteoporosis or at risk of this bone disease. PMID:24054764

  8. 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)....

  9. CT finding and cerebrospinal fluid proteins in muscular dystrophy patients

    International Nuclear Information System (INIS)

    We analyzed the microcomponents of protein fractions in the cerebrospinal fluid of patients with various types of muscular dystrophy. The degenerative pattern is characterized by an increase in the prealbumin and a decrease in the γ-globulin fraction is shown in the Duchenne and congenital muscular dystrophy. The increase in CSF IgG, γ-globulin fraction is shown in the myotonic dystrophy. In addition to the abnormality of IQ, EEG, and brain CT, abnormal CSF proteins obviously suggest the presence of CNS involvement in muscular dystrophy. (author)

  10. MR imaging of fukuyama congenital muscular dystrophy; a case report

    International Nuclear Information System (INIS)

    Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature

  11. MR imaging of fukuyama congenital muscular dystrophy; a case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Jeong Hyun; Kim, Yoo Kyung; Koo, Hae Soo; Park, Ki Deuk [Ewha Womans Univ. College of Medicine, Seoul (Korea, Republic of)

    2000-11-01

    Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature.

  12. 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.

  13. 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

  14. Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

    NARCIS (Netherlands)

    Lassche, S.; Stienen, G.J.; Irving, T.C.; Maarel, S.M. van der; Voermans, N.C.; Padberg, G.W.A.M.; Granzier, H.; Engelen, B.G. van; Ottenheijm, C.A.C.

    2013-01-01

    OBJECTIVE: To investigate whether sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy (FSHD). METHODS: Sarcomeric function was evaluated by contractile studies on demembranated single muscle fibers obtained from quadriceps muscle biopsies of 4 patients wit

  15. 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

  16. 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...

  17. 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

  18. The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy

    OpenAIRE

    Babak Soltani; Abdollah Karimi; Alireza Fahimzad; Mahshid Talebian

    2011-01-01

    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

  19. 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.

  20. TRIM Proteins in Therapeutic Membrane Repair of Muscular Dystrophy

    OpenAIRE

    Alloush, Jenna; Weisleder, Noah

    2013-01-01

    Muscular dystrophy represents a major unmet medical need as only palliative treatments exist for these debilitating diseases. Since multiple forms of muscular dystrophy arise from compromised sarcolemmal membrane integrity a therapeutic approach that can target this loss of membrane barrier function could be applicable to a number of these distinct genetic diseases. One pathway that presents an excellent opportunity to affect compromised membrane integrity is the process that the cell uses to...

  1. Gene Therapy in Large Animal Models of Muscular Dystrophy

    OpenAIRE

    Wang, Zejing; Jeffrey S. Chamberlain; Tapscott, Stephen J.; Storb, Rainer

    2009-01-01

    The muscular dystrophies are a group of genetically and phenotypically heterogeneously inherited diseases characterized by progressive muscle wasting, which can lead to premature death in severe forms such as Duchenne muscular dystrophy (DMD). In many cases they are caused by the absence of proteins that are critical components of the dystrophin-glycoprotein complex, which links the cytoskeleton and the basal lamina. There is no effective treatment for these disorders at present, but several ...

  2. Gene Therapy for Muscular Dystrophy: Lessons Learned and Path Forward

    OpenAIRE

    Mendell, Jerry R.; Rodino-Klapac, Louise; Sahenk, Zarife; Malik, Vinod; Kaspar, Brian K.; Walker, Christopher M.; Clark, K. Reed

    2012-01-01

    Our Translational Gene Therapy Center has used small molecules for exon skipping and mutation suppression and gene transfer to replace or provide surrogate genes as tools for molecular-based approaches for the treatment of muscular dystrophies. Exon skipping is targeted at the pre-mRNA level allowing one or more exons to be omitted to restore the reading frame. In Duchenne Muscular Dystrophy (DMD), clinical trials have been performed with two different oligomers, a 2′O-methyl-ribo-oligonucleo...

  3. Duchenne muscular dystrophy with associated growth hormone deficiency

    International Nuclear Information System (INIS)

    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 muscle weakness. Thorough investigations including serum creating phosphokinase (CK) levels in recommended in every patient with GH deficiency before starting GH replacement therapy. (author)

  4. Sarcopenia and Sarcopenic Obesity in Patients with Muscular Dystrophy

    OpenAIRE

    Luciano eMerlini; Alessandro eVagheggini; Daniela eCocchi

    2014-01-01

    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 standa...

  5. The importance of genetic diagnosis for Duchenne muscular dystrophy

    OpenAIRE

    Aartsma-Rus, Annemieke; Ginjaar, Ieke B; Bushby, Kate

    2016-01-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligibl...

  6. Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair

    OpenAIRE

    Swaggart, KA; Demonbreun, AR; Vo, AH; Swanson, KE; Kim, EY; Fahrenbach, JP; Holley-Cuthrell, J; Eskin, A; Z. Chen; Squire, K; Heydemann, A; Palmer, AA; Nelson, SF; McNally, EM

    2014-01-01

    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...

  7. Dasatinib as a treatment for Duchenne muscular dystrophy

    OpenAIRE

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

    2015-01-01

    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...

  8. Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy

    OpenAIRE

    Francesca Sciandra; Maria Giulia Bigotti; Bruno Giardina; Manuela Bozzi; Andrea Brancaccio

    2015-01-01

    In skeletal muscle, dystroglycan (DG) is the central component of the dystrophin-glycoprotein complex (DGC), a multimeric protein complex that ensures a strong mechanical link between the extracellular matrix and the cytoskeleton. Several muscular dystrophies arise from mutations hitting most of the components of the DGC. Mutations within the DG gene (DAG1) have been recently associated with two forms of muscular dystrophy, one displaying a milder and one a more severe phenotype. This review ...

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

    OpenAIRE

    Zhang, Yao; Tang, Ying; Zhang, Cheng

    2013-01-01

    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, ...

  10. Comparison of Deflazacort and Prednisone in Duchenne Muscular Dystrophy

    OpenAIRE

    Parvaneh KARIMZADEH; Ahad GHAZAVI

    2012-01-01

    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 m...

  11. Autophagy as a new therapeutic target in Duchenne muscular dystrophy

    OpenAIRE

    Palma, C.; F. Morisi; Cheli, S; S. Pambianco; Cappello, V; Vezzoli, M; Rovere-Querini, P; Moggio, M; Ripolone, M.; Francolini, M; Sandri, M.; Clementi, E

    2012-01-01

    A resolutive therapy for Duchene muscular dystrophy, a severe degenerative disease of the skeletal muscle, is still lacking. Because autophagy has been shown to be crucial in clearing dysfunctional organelles and in preventing tissue damage, we investigated its pathogenic role and its suitability as a target for new therapeutic interventions in Duchenne muscular dystrophy (DMD). Here we demonstrate that autophagy is severely impaired in muscles from patients affected by DMD and mdx mice, a mo...

  12. RESPIRATORY DYSFUNCTION IN UNSEDATED DOGS WITH GOLDEN RETRIEVER MUSCULAR DYSTROPHY

    OpenAIRE

    DeVanna, Justin C.; Kornegay, Joe N; Bogan, Daniel J.; Bogan, Janet R; Dow, Jennifer L.; Hawkins, Eleanor C.

    2013-01-01

    Golden retriever muscular dystrophy (GRMD) is a well-established model of Duchenne muscular dystrophy. The value of this model would be greatly enhanced with practical tools to monitor progression of respiratory dysfunction during treatment trials. Arterial blood gas analysis, tidal breathing spirometry, and respiratory inductance plethysmography (RIP) were performed to determine if quantifiable abnormalities could be identified in unsedated, untrained, GRMD dogs. Results from 11 dogs with a ...

  13. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.

    OpenAIRE

    Bonne, Gisèle; Quijano-Roy, Susana

    2013-01-01

    International audience The nuclear envelopathies, more frequently known as laminopathies are a rapidly expanding group of human hereditary diseases caused by mutations of genes that encode proteins of the nuclear envelope. The most frequent and best known form is Emery-Dreifuss muscular dystrophy (EDMD), a skeletal myopathy characterized by progressive muscular weakness, joint contractures, and cardiac disease. EMD gene, encoding emerin, causes the X-linked form of EDMD, while LMNA gene en...

  14. 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....

  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. Quantitative analysis of muscular wastings of lower limbs in Duchenne muscular dystrophy by computed tomography

    International Nuclear Information System (INIS)

    We quantitatively evaluated the muscular wastings of lower extremities in Duchenne muscular dystrophy (DMD) by computed tomography (CT). The subjects were 21 cases of DMD (an ambulant case and 20 wheelchair-ridden cases, ages ranging from 10 to 21 years old) and 4 control males. The CT scan was carried out at the mid-level between lesser trochanter and medial condyle of femur and the largest diameter level of lower leg. The density and the cross-sectional area of each muscle were measured on the CT image. The average CT number of normal muscle was varying from 40 to 60, as well as that of fat was -115. Then we calculated CT index of each muscle denoted as follows: CT index = [average CT number of muscle-(-115)] X(cross-sectional area of each muscle). The measurements of muscle strength and serum CK level were performed and their relationships to CT index were examined. The results were achieved as follows: 1) Wheelchair-ridden cases with DMD showed severe decrease in the average CT number and the CT index of each muscle with normal controls. With progression, the average CT number and the CT index were reduced. But gracilis muscle and sartorius muscle were relatively spared in comparison with other muscles. 2) There was positive correlation between the CT index and the muscle strength in triceps surae muscle, hamstrings muslce and quardriceps femoris muscle. 3) The CT index of whole thigh muscles and that of whole lower leg muscles were highly correlated to serum CK level. These results suggest that the quantitative analysis of muscle CT is an useful measurement for assessement of muscular wastings in DMD. (author)

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

    OpenAIRE

    M. Ruiz; V. Nadador; J. Fernández-Aleantud; J. Hernández-Salván; I. Riquelme; G. Benito

    2007-01-01

    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 ...

  19. Activity and relationships of muscular and cardiovascular systems in different states during muscular activity in athletes.

    Directory of Open Access Journals (Sweden)

    Pryimakov A.A.

    2012-11-01

    Full Text Available Revealed that the performance of high-power exercise on a bicycle ergometer to failure athletes skilled cyclists (15 men increases the activity and relationship of muscular and cardiovascular systems. At rest and fatigue manifests linear relationship between the two systems, during commissioning with stable condition - is exponential. The development of fatigue compensated without changing leadership of the quadriceps, biceps and calf muscles of the lower extremities in the efforts to change the relationship and partial role in various areas of cyclic motion, increasing their electrical activity. With the development of decompensated fatigue decreases the electrical activity and disturbed coordination of major muscles in the relationship right and left limbs.

  20. 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...

  1. 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.

  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. 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.

  4. Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B

    OpenAIRE

    Hong, Jong-Seo; Ki, Chang-Seok; Kim, Jong-Won; Suh, Yeon-Lim; Kim, June Soo; Baek, Kyung Kee; Kim, Byoung Joon; Ahn, Kyoung Ju; Kim, Duk-Kyung

    2005-01-01

    Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive skeletal myopathy and contractures of the neck, elbows and ankles. The causative mutation is either in the emerin gene (X-linked recessive EDMD) or lamin A/C gene (autosomal dominant EDMD2 or LGMD1B). We report three cases of EDMD, EDMD2 and LGMD1B. A 14-yr-old boy showed limitation of cervical flexion and contrac...

  5. 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.

  6. 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

  7. 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

  8. 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. PMID:24279481

  9. Computed tomography in Duchenne type muscular dystrophy

    International Nuclear Information System (INIS)

    The computed tomography (CT) scan was performed on 91 Duchenne type muscular dystrophy (DMD) patients on the following four levels; (1) at the level of L3 vertebra, (2) 2-3cm above the symphysis pubica, (3) midposition of the thigh, (4) largest-diameter section of the lower leg. The CT of muscles common to most of the DMD patients were as follows: 1. Muscle atrophy: Muscle atrophy was shown as a reduction in the cross-sectional area of the muscles. Very mild muscle atrophy could be detected either by the clearly identified muscle border or by scattered low-density areas of so-called ''moth-eaten'' appearance within muscles. 2. Fat infiltration: The decrease in radio-density of muscles was interpreted as infiltration of fatty tissue. This type of density change was further classified into diffuse, streaked, cobblestone and salt-and-pepper patterns according to the spacial distribution of low-density areas. 3. Selectivity pattern: As the chronological sequence of DMD muscle degeneration is usually different among individual muscles, it may be seen, in some stages, that some of the synergistic muscles are still only slightly involved, while the others are quite severely atrophied with evident fat infiltration. In certain stages of the disease, most of the patients show relative preservation of particular muscles although they assumed a rounded shape. The most resistent muscle was musculus gracilis, followed by the musculus sartorius, musculus semitendinosus (and/or musculus semimembranosus) in that order. According to the severity of the CT changes, 86 of the 91 patients were classed into five stages from A1 to A5. Morphological stages (A1-A5) were well correlated to the functional disability stages by Ueda with a correlation factor of r=0.88. (J.P.N.)

  10. 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

  11. 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.

  12. Duchenne Muscular Dystrophy: From Diagnosis to Therapy

    Directory of Open Access Journals (Sweden)

    Maria Sofia Falzarano

    2015-10-01

    Full Text Available Duchenne muscular dystrophy (DMD is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. The molecular diagnostic of DMD involves a deletions/duplications analysis performed by quantitative technique such as microarray-based comparative genomic hybridization (array-CGH, Multiple Ligation Probe Assay MLPA. Since traditional methods for detection of point mutations and other sequence variants require high cost and are time consuming, especially for a large gene like dystrophin, the use of next-generation sequencing (NGS has become a useful tool available for clinical diagnosis. The dystrophin gene is large and finely regulated in terms of tissue expression, and RNA processing and editing includes a variety of fine tuned processes. At present, there are no effective treatments and the steroids are the only fully approved drugs used in DMD therapy able to slow disease progression. In the last years, an increasing variety of strategies have been studied as a possible therapeutic approach aimed to restore dystrophin production and to preserve muscle mass, ameliorating the DMD phenotype. RNA is the most studied target for the development of clinical strategies and Antisense Oligonucleotides (AONs are the most used molecules for RNA modulation. The identification of delivery system to enhance the efficacy and to reduce the toxicity of AON is the main purpose in this area and nanomaterials are a very promising model as DNA/RNA molecules vectors. Dystrophinopathies therefore represent a pivotal field of investigation, which has opened novel avenues in molecular biology, medical genetics and novel therapeutic options.

  13. Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

    Science.gov (United States)

    Falzarano, Maria Sofia; Scotton, Chiara; Passarelli, Chiara; Ferlini, Alessandra

    2015-01-01

    Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. The molecular diagnostic of DMD involves a deletions/duplications analysis performed by quantitative technique such as microarray-based comparative genomic hybridization (array-CGH), Multiple Ligation Probe Assay MLPA. Since traditional methods for detection of point mutations and other sequence variants require high cost and are time consuming, especially for a large gene like dystrophin, the use of next-generation sequencing (NGS) has become a useful tool available for clinical diagnosis. The dystrophin gene is large and finely regulated in terms of tissue expression, and RNA processing and editing includes a variety of fine tuned processes. At present, there are no effective treatments and the steroids are the only fully approved drugs used in DMD therapy able to slow disease progression. In the last years, an increasing variety of strategies have been studied as a possible therapeutic approach aimed to restore dystrophin production and to preserve muscle mass, ameliorating the DMD phenotype. RNA is the most studied target for the development of clinical strategies and Antisense Oligonucleotides (AONs) are the most used molecules for RNA modulation. The identification of delivery system to enhance the efficacy and to reduce the toxicity of AON is the main purpose in this area and nanomaterials are a very promising model as DNA/RNA molecules vectors. Dystrophinopathies therefore represent a pivotal field of investigation, which has opened novel avenues in molecular biology, medical genetics and novel therapeutic options. PMID:26457695

  14. 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

  15. Prevalence of cardiomyopathy in duchenne and becker's muscular dystrophy

    International Nuclear Information System (INIS)

    Cardiac assessment was not done routinely in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients in Northern region of England while evidence was gathering on progressive cardiomyopathy in these patients. We wanted to find out the prevalence, progression and clinical features of cardiac involvement in Duchenne and Becker muscular dystrophy. Methods: It is a retrospective review of clinical, electrocardiographic and echocardiographic assessments. The notes of 52 Duchenne and Becker muscular dystrophy patients were reviewed out of which 32 had DMD, 6 had Intermediate muscular dystrophy (IMD) and 14 had BMD. Prevalence of preclinical and clinically evident cardiac involvement was 88.4% in DMD and BMD patients. Sixty nine% of patients had clinically evident cardiac involvement but only four patients had cardiac symptoms in the form of palpitations, out of which two were due to respiratory dysfunction and others was due to cardiac failure. Clinical examination of the rest of all of the patients was unremarkable. Electrocardiogram was abnormal in 88.4% of patients. Conduction defects were found in 19.4% of patients. Echocardiogram was abnormal in 80.7% of patients but all were poor echo subjects including those who had normal echocardiogram. Though most patients were asymptomatic, a high percentage had evidence of preclinical and clinically evident cardiac involvement. So in all patients with Xp21 linked muscular dystrophy a routine baseline cardiac assessment should be done at the age of 10 years and reviewed after intervals of one to two years. (author)

  16. 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.

  17. 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...

  18. 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.

  19. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.

    Science.gov (United States)

    Vieira, Natassia M; Elvers, Ingegerd; Alexander, Matthew S; Moreira, Yuri B; Eran, Alal; Gomes, Juliana P; Marshall, Jamie L; Karlsson, Elinor K; Verjovski-Almeida, Sergio; Lindblad-Toh, Kerstin; Kunkel, Louis M; Zatz, Mayana

    2015-11-19

    Duchenne muscular dystrophy (DMD), caused by mutations at the dystrophin gene, is the most common form of muscular dystrophy. There is no cure for DMD and current therapeutic approaches to restore dystrophin expression are only partially effective. The absence of dystrophin in muscle results in dysregulation of signaling pathways, which could be targets for disease therapy and drug discovery. Previously, we identified two exceptional Golden Retriever muscular dystrophy (GRMD) dogs that are mildly affected, have functional muscle, and normal lifespan despite the complete absence of dystrophin. Now, our data on linkage, whole-genome sequencing, and transcriptome analyses of these dogs compared to severely affected GRMD and control animals reveals that increased expression of Jagged1 gene, a known regulator of the Notch signaling pathway, is a hallmark of the mild phenotype. Functional analyses demonstrate that Jagged1 overexpression ameliorates the dystrophic phenotype, suggesting that Jagged1 may represent a target for DMD therapy in a dystrophin-independent manner. PAPERCLIP. PMID:26582133

  20. 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.

  1. The quality of life in boys with Duchenne muscular dystrophy.

    Science.gov (United States)

    Zamani, Gholamreza; Heidari, Morteza; Azizi Malamiri, Reza; Ashrafi, Mahmoud Reza; Mohammadi, Mahmoud; Shervin Badv, Reza; Hosseini, Seyed Ahmad; Salehi, Soodeh; Shahrokhi, Amin; Qorbani, Mostafa; Fathi, Mohammad Reza

    2016-07-01

    We conducted a study to evaluate the quality of life in boys with Duchenne muscular dystrophy aged 8-18 years, compared with that in matched healthy controls. A total of 85 boys with Duchenne muscular dystrophy aged 8-18 years and 136 age, sex and living place matched healthy controls were included in this study. Patients and one of their parents separately completed the 27-item Persian version of KIDSCREEN questionnaire (child and adolescent version and parent version). From the children's perspective, the quality of life in patients was found to be lower in two subclasses: "physical activities and health" (p muscular dystrophy have quite a satisfactory quality of life. A happier and more hopeful life can be promoted through increasing social support and improving the parental knowledge regarding their child's more positive life perspective. PMID:27234309

  2. "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'.

  3. Bronchodilation improves endurance but not muscular efficiency in chronic obstructive pulmonary disease

    NARCIS (Netherlands)

    van der Vaart, Hester; Postma, Dirkje S.; Grevink, Rene; Roemer, Willem; ten Hacken, Nick

    2011-01-01

    We hypothesized that bronchodilator treatment not only improves hyperinflation and endurance capacity but also muscular efficiency in stable chronic obstructive pulmonary disease (COPD). We aimed to demonstrate that tiotropium and salmeterol improve muscular efficiency compared with placebo. Twenty-

  4. 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....

  5. Muscular Dystrophy Campaign: Putting Some Financial Muscle Behind Finding a Cure

    OpenAIRE

    Pohlschmidt, Marita

    2012-01-01

    The Muscular Dystrophy Campaign, a London-based charitable organization, funds research on muscle function and muscle disease, including the study of muscle stem cells. Dr. Marita Pohlschmidt, the Muscular Dystrophy Campaign's director of research, describes its vision and goals.

  6. Outcome of Long-Term Corticosteroid Treatment in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical orthopedic effects of chronic daily corticosteroid treatment were evaluated by chart review in boys with genetically confirmed Duchenne muscular dystrophy (DMD followed at the Ohio State University Muscular Dystrophy Clinic between 2000 and 2003.

  7. Outcome of Long-Term Corticosteroid Treatment in Duchenne Muscular Dystrophy

    OpenAIRE

    J Gordon Millichap

    2007-01-01

    The clinical orthopedic effects of chronic daily corticosteroid treatment were evaluated by chart review in boys with genetically confirmed Duchenne muscular dystrophy (DMD) followed at the Ohio State University Muscular Dystrophy Clinic between 2000 and 2003.

  8. 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.

  9. 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.

  10. Magnetic resonance imaging of children with Duchenne muscular dystrophy

    International Nuclear Information System (INIS)

    Eight children representing a spectrum of clinical states of biopsy-proven Duchenne muscular dystrophy (DMD) underwent magnetic resonance (MR) scans to assess the degree of muscular involvement and disease progression. Five muscle groups (neck, shoulder girdle, pelvic girdle, thigh and calf) were evaluated. In each case, involved muscles were clearly demarcated. Image estimates of disease severity by degree of muscle involvement correlated well with clinical staging. In our experience MR is useful for assessment of disease stage, selection of appropriate muscles for biopsy and planning for courses of physical and rehabilitation therapy. (orig.)

  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. uPA deficiency exacerbates muscular dystrophy in MDX mice

    OpenAIRE

    Suelves, Mònica; Vidal, Berta; Serrano, Antonio L.; Tjwa, Marc; Roma, Josep; López-Alemany, Roser; Luttun, Aernout; de Lagrán, María Martínez; Díaz, Maria Àngels; Jardí, Mercè; Roig, Manuel; Dierssen, Mara; Dewerchin, Mieke; Carmeliet, Peter; Muñoz-Cánoves, Pura

    2007-01-01

    Duchenne muscular dystrophy (DMD) is a fatal and incurable muscle degenerative disorder. We identify a function of the protease urokinase plasminogen activator (uPA) in mdx mice, a mouse model of DMD. The expression of uPA is induced in mdx dystrophic muscle, and the genetic loss of uPA in mdx mice exacerbated muscle dystrophy and reduced muscular function. Bone marrow (BM) transplantation experiments revealed a critical function for BM-derived uPA in mdx muscle repair via three mechanisms: (...

  13. Calcium influx determines the muscular response to electrotransfer

    DEFF Research Database (Denmark)

    Møller, Pernille Højman; Brolin, Camilla; Gissel, Hanne

    2012-01-01

    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...... reducing Ca(2+) influx. Larger Ca(2+) influx as induced by 8-HV pulses leads to muscle damage and muscle fiber regeneration through recruitment of satellite cells. The extent of Ca(2+) influx determines the muscular response to electrotransfer and, thus, the success of a given application. In the case...

  14. 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...

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

    DEFF Research Database (Denmark)

    Hauerslev, S; Ørngreen, M C; Hertz, J M;

    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....

  16. Overexpression of Latent TGFβ Binding Protein 4 in Muscle Ameliorates Muscular Dystrophy through Myostatin and TGFβ

    OpenAIRE

    Kay-Marie Lamar; Sasha Bogdanovich; Gardner, Brandon B.; Gao, Quan Q.; Tamari Miller; Earley, Judy U.; Michele Hadhazy; Vo, Andy H.; Lisa Wren; Molkentin, Jeffery D.; McNally, Elizabeth M.

    2016-01-01

    Latent TGFβ binding proteins (LTBPs) regulate the extracellular availability of latent TGFβ. LTBP4 was identified as a genetic modifier of muscular dystrophy in mice and humans. An in-frame insertion polymorphism in the murine Ltbp4 gene associates with partial protection against muscular dystrophy. In humans, nonsynonymous single nucleotide polymorphisms in LTBP4 associate with prolonged ambulation in Duchenne muscular dystrophy. To better understand LTBP4 and its role in modifying muscular ...

  17. Interpretation of "Diagnosis and management of Duchenne muscular dystrophy: a guide for families (2011 version)"

    OpenAIRE

    Xi-hua LI

    2015-01-01

    The guideline "Diagnosis and management of Duchenne muscular dystrophy" was supported by a 3-year-long project guided by US Centers for Disease Control and Prevention (CDC), in collaboration with patient advocacy groups [Muscular Dystrophy Association (MDA), Parent Project Muscular Dystrophy (PPMD) and United Parent Projects Muscular Dystrophy (UPPMD)] and Translational Research in Europe: Assessment and Treatment of Neuromuscular Disease (TREAT-NMD) network. The main document was published i...

  18. Continuous Infusion Propofol General Anesthesia for Dental Treatment in Patients With Progressive Muscular Dystrophy

    OpenAIRE

    Kawaai, Hiroyoshi; Tanaka, Kazuho; Yamazaki, Shinya

    2005-01-01

    Progressive muscular dystrophy may produce abnormal reactions to several drugs. There is no consensus of opinion regarding the continuous infusion of propofol in patients with progressive muscular dystrophy. We successfully treated 2 patients with progressive muscular dystrophy who were anesthetized with a continuous infusion of propofol. In case 1, a 19-year-old, 59-kg man with Becker muscular dystrophy and mental retardation was scheduled for dental treatment under general anesthesia. Gener...

  19. Advances of blood oxygen-level dependent MRI in muscular system

    International Nuclear Information System (INIS)

    BOLD-fMRI has been applied to muscular system to observe muscular pathophysiological change after performing a task and show the characteristics of muscle perfusion. This paper mainly introduces the scanning sequence, common tasking methods, such as cuff compression, excise, oxygen and drug, etc. It also introduces clinical study of perfusion reserve of muscular tissue with abnormal blood vessels. (authors)

  20. An Exploration of the Drive for Muscularity in Adolescent Boys and Girls.

    Science.gov (United States)

    McCreary, Donald R.; Sasse, Doris K.

    2000-01-01

    Investigated the drive for muscularity among high school adolescents using the Drive for Muscularity Scale. Results indicated that the scale was reliable. High-drive students were mainly boys trying to gain weight and muscle mass. Drive related to poor self-esteem and higher depression levels among boys, but not girls. Drive for muscularity was…

  1. The Link Between Stress Disorders and Autonomic Dysfunction in Muscular Dystrophy

    OpenAIRE

    Rasna eSabharwal

    2014-01-01

    Muscular dystrophy is a progressive disease of muscle weakness, muscle atrophy and cardiac dysfunction. Patients afflicted with muscular dystrophy exhibit autonomic dysfunction along with cognitive impairment, severe depression, sadness, and anxiety. Although the psychological aspects of cardiovascular disorders and stress disorders are well known, the physiological mechanism underlying this relationship is not well understood, particularly in muscular dystrophy. Therefore, the goal of this p...

  2. 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

  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. Drive for muscularity and muscularity-oriented disordered eating in men: the role of set shifting difficulties and weak central coherence.

    Science.gov (United States)

    Griffiths, Scott; Murray, Stuart B; Touyz, Stephen

    2013-09-01

    Set shifting difficulties and weak central coherence are information-processing biases associated with thinness-oriented eating and body image pathology in women. However, little is known about the relationship between these processing biases and muscularity-oriented eating and body image pathology. We investigated whether set shifting and central coherence were uniquely related to the drive for muscularity and muscularity-oriented disordered eating in a sample of 91 male undergraduates. Participants completed the Wisconsin Card Sort Test, the Matching Familiar Figures Task, the Drive for Muscularity scale, and a modified Eating Disorders Examination-Questionnaire. Results indicated that set shifting difficulties and weak central coherence were both uniquely positively associated with the drive for muscularity, and that set shifting difficulties were uniquely positively associated with muscularity-oriented disordered eating. Results are discussed with regard to the male experience of body image and eating pathology, and in regard to muscle dysmorphia. PMID:23680082

  5. 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.

  6. Best practice guidelines for molecular analysis in spinal muscular atrophy

    NARCIS (Netherlands)

    Scheffer, H; Cobben, JM; Matthijs, G; Wirth, B

    2001-01-01

    With a prevalence of approximately 1/10 000, and a carrier frequency of 1/40-1/60 the proximal spinal muscular atrophies (SMAs) are among the most frequent autosomal recessive hereditary disorders. Patients can be classified clinically into four groups: acute, intermediate, mild, and adult (SMA type

  7. Quantitative assessment of calf circumference in Duchenne muscular dystrophy patients

    NARCIS (Netherlands)

    Beenakker, EAC; de Vries, Joeke; Fock, JM; van Tol, M; Brouwer, OF; Maurits, NM; van der Hoeven, JH

    2002-01-01

    Duchenne muscular dystrophy is clinically characterised by progressive muscle weakness and a gradual increase in the size of some affected muscles, especially calf muscles. The extent of calf enlargement is usually determined by subjective visual assessment. The purpose of this study was to determin

  8. 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.

  9. The Child with Muscular Dystrophy in School. Revised.

    Science.gov (United States)

    Schock, Nancy C.

    Practical information on children with muscular dystrophy is intended to help parents and teachers facilitate their inclusion in mainstreamed classrooms. Major topics addressed include the following: transportation arrangements; providing full information to the teacher regarding the child's specific abilities and physical limitations;…

  10. Phosphorylation of intact erythrocytes in human muscular dystrophy

    International Nuclear Information System (INIS)

    The uptake of exogenous 32Pi into the membrane proteins of intact erythrocytes was measured in 8 patients with Duchenne muscular dystrophy. No abnormalities were noted after autoradiographic analysis. This contrasts with earlier results obtained when isolated membranes were phosphorylated with gamma-[32P]ATP, and suggests a possible reinterpretation of those experiments

  11. 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

  12. 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.

  13. Muscular urinary sphincter : electrically stimulated myoplasty for functional sphincter reconstruction

    NARCIS (Netherlands)

    Palacio, M M; Van Aalst, V C; Perez Abadia, G A; Stremel, R W; Werker, P M; Ren, X; Petty, G D; Heilman, S J; Van Savage, J G; Garcia Fernandez, A; Kon, M; Tobin, G R; Barker, J H

    1998-01-01

    PURPOSE: To reconstruct an electrically stimulated muscular urinary sphincter (MUS) using a tailored gracilis muscle free flap with intact nerve. MATERIALS AND METHODS: Unilateral surgically tailored gracilis muscle free flaps were transferred into the pelvis in eight dogs, leaving the obturator ner

  14. 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

  15. Physical complaints in ageing persons with spinal muscular atrophy.

    NARCIS (Netherlands)

    Groot, I.J.M. de; Witte, L.P de

    2005-01-01

    OBJECTIVE: While life expectancy is improving for persons with spinal muscular atrophy, new physical complaints may arise. To investigate this, we studied persons with a long duration and severe course (high functional limitations) of the disease. DESIGN: Cross-sectional descriptive study. SUBJECTS/

  16. 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

  17. 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…

  18. Emery dreifuss muscular dystrophy: A clinico-pathological study

    OpenAIRE

    Gayathri N; Taly A; Sinha S; Suresh T; Gorai D

    2006-01-01

    Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically heterogeneous disorder. We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement. Family history was noted in one case. Muscle biopsy revealed features of dystrophy in all.

  19. 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.

  20. Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

    OpenAIRE

    Grimm, T; Müller, B.; Müller, C R; Janka, M

    1990-01-01

    A newly formulated mutation selection equilibrium for lethal X linked recessive traits such as Duchenne muscular dystrophy is presented, which allows for both male and female germline mosaicism. Estimates of the additional parameters used are given, thus allowing the incorporation of germline mosaicism into the calculation of genetic risks.

  1. Protriptyline treatment of sleep hypoxaemia in Duchenne muscular dystrophy.

    OpenAIRE

    Smith, P E; Edwards, R H; Calverley, P. M.

    1989-01-01

    Protriptyline 20 mg daily reduced the total time spent in rapid eye movement sleep in an open study in four subjects with Duchenne muscular dystrophy. Sleep related hypoxaemia and episodes of desaturation were reduced. Anticholinergic side effects were prominent, however, in these patients, precluding its use for regular treatment.

  2. Concise Review: Stem Cell Therapy for Muscular Dystrophies

    OpenAIRE

    Wilschut, Karlijn J.; Ling, Vivian B.; Bernstein, Harold S.

    2012-01-01

    Stem cell therapy holds promise as a treatment for muscular dystrophy by providing cells that can both deliver functional muscle proteins and replenish the stem cell pool. This article reviews the current state of research on myogenic stem cells and identifies the important challenges that must be addressed as stem cell therapy is brought to the clinic.

  3. Duchenne muscular dystrophy: CRISPR/Cas9 treatment.

    Science.gov (United States)

    Mendell, Jerry R; Rodino-Klapac, Louise R

    2016-05-01

    A novel approach to gene correction by genome editing shows great promise as a treatment for Duchenne muscular dystrophy (DMD). CRISPR/Cas9 delivered by adeno-associated virus to a mouse model for DMD demonstrated improvement in function and histology. PMID:26926391

  4. 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

  5. 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

  6. Risk of fracture in patients with muscular dystrophies

    NARCIS (Netherlands)

    Pouwels, S.; Boer, A. de; Leufkens, H.G.M.; Weber, W.E.; Cooper, C.; Onzenoort, H.A.W. van; Vries, F de

    2014-01-01

    The aim of the study was to determine fracture risk in incident muscular dystrophy (MD) patients. Patients with MD are at a 1.4-fold increased risk of fracture as compared with population-based control patients. Risk further increased among elderly and female patients and among patients exposed to o

  7. Risk of fracture in patients with muscular dystrophies

    NARCIS (Netherlands)

    Pouwels, S; de Boer, A; Leufkens, H G M; Weber, W E J; Cooper, C; van Onzenoort, H A W; de Vries, F

    2014-01-01

    UNLABELLED: The aim of the study was to determine fracture risk in incident muscular dystrophy (MD) patients. Patients with MD are at a 1.4-fold increased risk of fracture as compared with population-based control patients. Risk further increased among elderly and female patients and among patients

  8. 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.

  9. 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…

  10. 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…

  11. 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.

  12. 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…

  13. Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy

    NARCIS (Netherlands)

    Visser, J.; de Visser, M.; Van den Berg-Vos, R. M.; Van den Berg, L. H.; Wokke, J. H. J.; De Jong, J. M. B. V.; Franssen, H.

    2008-01-01

    Objective We present the electrophysiologic data at baseline of 37 patients who were included in our prospective study on sporadic adult-onset progressive muscular atrophy (PMA). The aim was to correlate electrophysiological. signs of lower motor neuron (LMN) loss with clinical signs of LMN loss, an

  14. Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Case Definition in Surveillance for Childhood-Onset Duchenne/Becker Muscular Dystrophy

    OpenAIRE

    Mathews, Katherine D.; Cunniff, Chris; Kantamneni, Jiji R.; Ciafaloni, Emma; Miller, Timothy; Matthews, Dennis; Cwik, Valerie; Druschel, Charlotte; Miller, Lisa; Meaney, F. John; Sladky, John; Romitti, Paul A.

    2010-01-01

    The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. MD STARnet uses medical record abstraction to identify patients with Duchenne/Becker muscular dystrophy born January 1, 1982 or later who resided in one of the participating sites. Critical diagnostic elements of each abstracted record...

  15. 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.

  16. 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.

  17. 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

  18. 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.

  19. 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

  20. 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

    2015-06-01

    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.

  1. The importance of genetic diagnosis for Duchenne muscular dystrophy

    Science.gov (United States)

    Aartsma-Rus, Annemieke; Ginjaar, Ieke B; Bushby, Kate

    2016-01-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD. PMID:26754139

  2. The importance of genetic diagnosis for Duchenne muscular dystrophy.

    Science.gov (United States)

    Aartsma-Rus, Annemieke; Ginjaar, Ieke B; Bushby, Kate

    2016-03-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD. PMID:26754139

  3. Radionuclide study for cardiac lesion in Duchenne muscular dystrophy

    International Nuclear Information System (INIS)

    Tl-201 myocardial scintigraphy and radionuclide ventriculography with Tc-99m were performed in 10 patients with Duchenne muscular dystropohy (DMD) and 2 siblings with Becker muscular dystrophy (BMD). Perfusion defect especially in the left ventricular posterolateral wall (LVPLW) and cardiac apex was seen on Tl-201 imaging in 6 of the DMD patients and one of the BMD patients. For these patients, Tc-99m imaging also showed left ventricular local wall motion abnormality in 5 patients and a decreased left ventricular ejection fraction in 4 patients. These findings coincided well with fibrosis of the LVPLW found on autopsy. There were individual differences regarding the occurrence of cardiac complications. One of the BMD patients, as well as DMD patients, had also cardiac complications which have long been considered less common. (Namekawa, K.)

  4. Cell transplantation and gene therapy in muscular dystrophy.

    Science.gov (United States)

    Morgan, J E; Partridge, T A

    1992-09-01

    Duchenne's muscular dystrophy (DMD), which affects 1/3500 live male births, involves a progressive degeneration of skeletal and cardiac muscle, leading to early death. The protein dystrophin is lacking in DMD and present, but defective, in the allelic, less severe, Becker muscular dystrophy and is also missing in the mdx mouse. Experiments on the mdx mouse have suggested two possible therapies for these myopathies. Implantation of normal muscle precursor cells (mpc) into mdx skeletal muscle leads to the conversion of dystrophin-negative fibres to -positive, with consequent improvement in muscle histology. Direct injection of dystrophin cDNA into skeletal or cardiac muscle also gives rise to dystrophin-positive fibres. Although both appear promising, there are a number of questions to be answered and refinements to be made before either technique could be considered possible as treatments for myopathies in man. PMID:1365921

  5. 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.

  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. MRI and ultrasound in solitary muscular and soft tissue cysticercosis

    Energy Technology Data Exchange (ETDEWEB)

    Jankharia, Bhavin G.; Chavhan, Govind B.; Krishnan, Pradeep; Jankharia, Bijal [Jankharia Imaging CT/MRI, Mumbai, Maharashtra (India)

    2005-11-01

    Solitary cysticercosis of muscles and soft tissue is a rare disease and can cause a diagnostic dilemma clinically. We present the MRI and ultrasound findings in six patients with solitary muscular and soft tissue cysticercosis. Five of them had clear cysts that displayed low signal intensity on T1-weighted images and high signal intensity on T2-weighted images. Four of these cysts had scolices within them. One patient had an ill-defined hyperintense lesion on T2-weighted images without any clear cyst. Ultrasound performed in all patients showed similar findings, with the scolices being more clearly appreciated. MRI and ultrasound are useful in the diagnosis of solitary muscular and soft tissue cysticercosis and they reliably establish the diagnosis when a clear cyst with scolex is seen. (orig.)

  8. MRI and ultrasound in solitary muscular and soft tissue cysticercosis

    International Nuclear Information System (INIS)

    Solitary cysticercosis of muscles and soft tissue is a rare disease and can cause a diagnostic dilemma clinically. We present the MRI and ultrasound findings in six patients with solitary muscular and soft tissue cysticercosis. Five of them had clear cysts that displayed low signal intensity on T1-weighted images and high signal intensity on T2-weighted images. Four of these cysts had scolices within them. One patient had an ill-defined hyperintense lesion on T2-weighted images without any clear cyst. Ultrasound performed in all patients showed similar findings, with the scolices being more clearly appreciated. MRI and ultrasound are useful in the diagnosis of solitary muscular and soft tissue cysticercosis and they reliably establish the diagnosis when a clear cyst with scolex is seen. (orig.)

  9. Bimaxillary Osteotomy for Jaw Deformity With Facioscapulohumeral Muscular Dystrophy.

    Science.gov (United States)

    Kawasaki, Takako; Ohba, Seigo; Fujimura, Yuji; Asahina, Izumi

    2016-05-01

    Facioscapulohumeral muscular dystrophy (FSHD) is a subtype of muscular dystrophies which reduces the muscle strength, especially the regions of scapular, shoulder, and upper arms, progressively. According to progressive muscle weakness in FSHD, postoperative stability of patient with FSHD after orthognathic surgery is not reliably acquired same as healthy subjects. A 32-year-old woman with FSHD underwent orthodontic and orthognathic surgical treatment due to jaw deformity. She has been followed up more than 3 years after surgery and acquired skeletal stability. This patient is the first report that showed long-term skeletal stability after orthognathic surgery in patient with FSHD. This patient report suggests that it is possible to apply orthognathic surgical treatment to patients with FSHD. PMID:27054436

  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. PMID:27161598

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

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    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.

  12. Meningitis tras anestesia y analgesia espinal

    OpenAIRE

    M. Robles Romero; M.A. Rojas Caracuel; C. del Prado Álvarez

    2013-01-01

    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...

  13. Creatine monohydrate as a therapeutic aid in muscular dystrophy.

    Science.gov (United States)

    Pearlman, Jared P; Fielding, Roger A

    2006-02-01

    In recent years, dietary supplementation with creatine has been shown to enhance neuromuscular function in several diseases. Recent studies have suggested that creatine can be beneficial in patients with muscular dystrophy and other mitochondrial cytopathies, and may attenuate sarcopenia and facilitate rehabilitation of disuse atrophy. Though the mechanisms are still unknown, creatine has been shown to decrease cytoplasmic Ca2+ levels and increase intramuscular and cerebral phosphocreatine stores, providing potential musculoskeletal and neuroprotective effects. PMID:16536185

  14. Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability

    OpenAIRE

    Huisheng Liu; Jianfeng Lu; Hong Chen; Zhongwei Du; Xue-Jun Li; Su-Chun Zhang

    2015-01-01

    Spinal muscular atrophy (SMA) presents severe muscle weakness with limited motor neuron (MN) loss at an early stage, suggesting potential functional alterations in MNs that contribute to SMA symptom presentation. Using SMA induced pluripotent stem cells (iPSCs), we found that SMA MNs displayed hyperexcitability with increased membrane input resistance, hyperpolarized threshold, and larger action potential amplitude, which was mimicked by knocking down full length survival motor neuron (SMN) i...

  15. Ultrastructural muscle and neuro-muscular junction alterations in polymyositis

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    L. L. Babakova

    2015-02-01

    Full Text Available Ultrastructural analysis of 7 biopsies from m.palmaris longus and m.deltoideus in patients with confirmed polymyositis revealed alterationand degeneration of muscle fibers and anomalies of neuro-muscular junction (NMJ. The NMJ abnormalities and following denervation ofmuscle fibers in polymyositis start with subsynaptic damages. The occurance of regeneration features in muscle fibers at any stage is characteristic for PM.

  16. Motor assessment in patients with Duchenne muscular dystrophy

    OpenAIRE

    Gabriela Palhares Campolina Diniz; Laura Maria de Lima Belizário Facury Lasmar; Juliana Gurgel Giannetti

    2012-01-01

    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 mu...

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

    OpenAIRE

    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, th...

  18. The role of early diagnosis of muscular dystrophy

    OpenAIRE

    Velickova, Nevenka; Gacova, Marina

    2010-01-01

    Background: Muscular dystrophy (MD) is a genetic disorder that gradually weakens the body's musclesIt's caused by incorrect or missing genetic information that prevents the body from making the proteins needed to build and maintain healthy muscles. This form occurs because of a problem with the gene that makes dystrophin, a protein that helps muscle cells keep their shape and length Girls can carry the gene that causes the disease, but they usually have no symptoms.. Aim: To evaluate t...

  19. GENE AND CELL-MEDIATED THERAPIES FOR MUSCULAR DYSTROPHY

    OpenAIRE

    Konieczny, Patryk; Swiderski, Kristy; Jeffrey S. Chamberlain

    2013-01-01

    Duchenne muscular dystrophy (DMD) is a devastating muscle disorder that affects 1 in 3500 boys. Despite years of research and considerable progress in understanding the molecular mechanism of the disease and advancement of therapeutic approaches, there is no cure for DMD. The current treatment options are limited to physiotherapy and corticosteroids, and although they provide a substantial improvement in affected children, they only slow the course of the disorder. On a more optimistic note, ...

  20. Gene Therapy for Muscular Dystrophies: Progress and Challenges

    OpenAIRE

    Park, Kyung Seok; Oh, Donghoon

    2010-01-01

    Muscular dystrophies are groups of inherited progressive diseases of the muscle caused by mutations of diverse genes related to normal muscle function. Although there is no current effective treatment for these devastating diseases, various molecular strategies have been developed to restore the expressions of the associated defective proteins. In preclinical animal models, both viral and nonviral vectors have been shown to deliver recombinant versions of defective genes. Antisense oligonucle...

  1. Yesterday, today and tomorrow of Duchenne muscular dystrophy

    OpenAIRE

    Zhang, Cheng

    2015-01-01

    The research history of Duchenne muscular dystrophy (DMD) may be roughly divided into 3 phases: clinical describing (1836-1985), molecular diagnosis and exploratory therapy (1985-2020), and the pathogenesis illuminating, gene therapy or treatment against the pathogenesis (2020-). During 1836-1985, doctors described the variation of medical history, clinical signs and symptoms, pathology, biochemistry, and genetic regularity of DMD. During 1985-2020, the scientists set up molecular diagnostic ...

  2. Duchenne Muscular Dystrophy Gene Therapy in the Canine Model

    OpenAIRE

    Duan, Dongsheng

    2015-01-01

    Duchenne muscular dystrophy (DMD) is an X-linked lethal muscle disease caused by dystrophin deficiency. Gene therapy has significantly improved the outcome of dystrophin-deficient mice. Yet, clinical translation has not resulted in the expected benefits in human patients. This translational gap is largely because of the insufficient modeling of DMD in mice. Specifically, mice lacking dystrophin show minimum dystrophic symptoms, and they do not respond to the gene therapy vector in the same wa...

  3. Duchenne muscular dystrophy gene therapy: Lost in translation?

    OpenAIRE

    Dongsheng Duan

    2011-01-01

    Dongsheng DuanDepartment of Molecular Microbiology and Immunology, School of Medicine, University of Missouri, Columbia, MO, USAAbstract: A milestone of molecular medicine is the identification of dystrophin gene mutation as the cause of Duchenne muscular dystrophy (DMD). Over the last 2 decades, major advances in dystrophin biology and gene delivery technology have created an opportunity to treat DMD with gene therapy. Remarkable success has been achieved in treating dystrophic mice. Several...

  4. Congenital Muscular Dystrophies Involving the O-Mannose Pathway

    OpenAIRE

    Martin, Paul T.

    2007-01-01

    A number of forms of congenital muscular dystrophy (CMD) have been identified that involve defects in the glycosylation of dystroglycan with O-mannosyl-linked glycans. There are at least six genes that can affect this type of glycosylation, and defects in these genes give rise to disorders that have many aspects of muscle and brain pathology in common. Overexpression of one gene implicated in CMD, LARGE, was recently shown to increase dystroglycan glycosylation and restore its function in cel...

  5. RESPIRATORY DYSFUNCTIONS IN CHILDREN WITH DUCHENNE MUSCULAR DYSTROPHY

    OpenAIRE

    Dhargave Pradnya; Atchayaram Nalini; Meghana Adoor; Raghuram Nagarathna; Raju, Trichur R; Kandhavelu Thennarasu; Sathyaprabha, Talakad N

    2016-01-01

    Aim: The prognosis for Duchenne Muscular Dystrophy (DMD) life depends to a large extent on the respiratory function. Inspiratory and expiratory muscles are affected and respiratory problems occur with or without spinal deformities. It is important to characterize the respiratory function in DMD to facilitate decision of timing of the intervention. Methodology: 124 DMD male children whose parents gave written consent were recruited. The Pulmonary function tests were performed using Spirome...

  6. Stromal cell-derived factors in Duchenne muscular dystrophy

    OpenAIRE

    Abdel-Salam, E.; Ehsan Abdel-Meguid, I.; Shatla, R.; Korraa, S. S.

    2010-01-01

    Duchenne muscular dystrophy (DMD) is characterized by increased muscle damage and an abnormal blood flow after muscle contraction leading to a state of functional ischemia. Abundant evidence suggests that endothelial circulating progenitor cells (EPCs) play an important role in mediating vascular and muscle repair mechanisms and that the stromal cell-derived factor (SDF)-1 α chemokine is responsible for both progenitor cell mobilization from the bone marrow to peripheral blood and homing to t...

  7. 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.

  8. Poor Facial Affect Recognition Among Boys with Duchenne Muscular Dystrophy

    OpenAIRE

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

    2006-01-01

    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 matching-to-sample test with four types of visual recognition (Object, Face, Affect, and Situation matching) developed by Lucci and Fein. Within-grou...

  9. Functional protein networks unifying limb girdle muscular dystrophy

    OpenAIRE

    de Morrée, Antoine

    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 clinical presentation: adult onset muscle weakness, with muscles of the pelvic and shoulder girdle as predominantly affected muscle groups. This thesis explores a potential molecular mechanism that unif...

  10. RNAseq analysis for the diagnosis of muscular dystrophy

    OpenAIRE

    Gonorazky, Hernan; Liang, Minggao; Cummings, Beryl; Lek, Monkol; Micallef, Johann; Hawkins, Cynthia; Basran, Raveen; Cohn, Ronald; Wilson, Michael D.; MacArthur, Daniel; Marshall, Christian R.; Ray, Peter N.; Dowling, James J.

    2015-01-01

    Abstract The precise genetic cause remains elusive in nearly 50% of patients with presumed neurogenetic disease, representing a significant barrier for clinical care. This is despite significant advances in clinical genetic diagnostics, including the application of whole‐exome sequencing and next‐generation sequencing‐based gene panels. In this study, we identify a deep intronic mutation in the DMD gene in a patient with muscular dystrophy using both conventional and RNAseq‐based transcriptom...

  11. Therapeutic potential of matrix metalloproteinases in Duchenne muscular dystrophy

    OpenAIRE

    AshokKumar

    2014-01-01

    Matrix metalloproteinases (MMPs) are secreted proteinases that have physiologic roles in degradation and remodeling of extracellular matrix (ECM) in almost all tissues. However, their excessive production in disease conditions leads to many pathological features including tissue breakdown, inflammation, cell death, and fibrosis. Duchenne Muscular dystrophy (DMD) is a devastating genetic muscle disorder caused by partial or complete loss of cytoskeletal protein dystrophin. Progressive muscle w...

  12. Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy

    OpenAIRE

    Fee, Dominic B.

    2012-01-01

    A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of his age of onset, lack of family history, and benign appearing muscle biopsy. This case is one of the oldest onset of weakness in genetically confirmed FSH and highlights the recognized expansion in phenotype that has occurred since the advent o...

  13. Corticosteroid Treatment Impact on Spinal Deformity in Duchenne Muscular Dystrophy

    OpenAIRE

    Sanzarello, Ilaria; Merlini, Luciano; Traina, Francesco; Rosa, Michele Attilio; Faldini, Cesare

    2014-01-01

    Duchenne muscular dystrophy is a progressive disease with loss of ambulation at around 9-10 years of age, followed, if untreated, by development of scoliosis, respiratory insufficiency, and death in the second decade of life. This review highlights the natural history of the disease, in particular, with regard to the development of the spinal deformity and how this complication has been modified by surgical interventions and overall by corticosteroid treatment. The beneficial effect of cortic...

  14. The Effects Daily, Maximal of Resistance exercise on Muscular Function

    OpenAIRE

    Bowser, Kristina L.

    1997-01-01

    Overtraining is a common problem in athletes that prevents many from becoming "elite". A decrement in an athletesà ⠬ performance is usually an indicator that overtraining syndrome may be developing. Unfortunately, there is no model that can determine overtraining. A decline in performance results in a depression in maximum muscular force. It is not known whether the force depression is a result of central or peripheral factors. In this study, the two training protocols on different legs det...

  15. The immune system in Duchenne muscular dystrophy: Friend or foe

    OpenAIRE

    Villalta, S. Armando; Rosenberg, Amy S.; Bluestone, Jeffrey A.

    2015-01-01

    Duchenne muscular dystrophy (DMD) is a genetic disease caused by mutations in the X-linked dystrophin gene, resulting in reduced or absent protein production, subsequently leading to the structural instability of the dystroglycan complex (DGC), muscle degeneration, and early death in males. Thus, current treatments have been targeting the genetic defect either by bypassing the mutation through exon skipping or replacing the defective gene through gene therapy and stem cell approaches. However...

  16. Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

    OpenAIRE

    Park, Gyu-Hwan; Kariya, Shingo; Monani, Umrao R.

    2010-01-01

    Spinal muscular atrophy (SMA) is a common and often fatal neurodegenerative disease that primarily afflicts infants and young children. SMA is caused by abnormally low levels of the survival motor neuron (SMN) protein resulting from a combination of recessively inherited mutations in the SMN1 gene and the presence of an almost identical but partially functional copy gene, SMN2. Absence of the uniquely human SMN2 gene in SMA patients has never been reported because the SMN protein is indispens...

  17. Inflammatory response to strenuous muscular exercise in man

    OpenAIRE

    Camus, G.; Deby-Dupont, G; Deby, C.; A. Juchmés-Ferir; J. Pincemail; Lamy, M.

    1993-01-01

    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 seem...

  18. 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.

  19. Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Francesca Sciandra

    2015-01-01

    Full Text Available In skeletal muscle, dystroglycan (DG is the central component of the dystrophin-glycoprotein complex (DGC, a multimeric protein complex that ensures a strong mechanical link between the extracellular matrix and the cytoskeleton. Several muscular dystrophies arise from mutations hitting most of the components of the DGC. Mutations within the DG gene (DAG1 have been recently associated with two forms of muscular dystrophy, one displaying a milder and one a more severe phenotype. This review focuses specifically on the animal (murine and others model systems that have been developed with the aim of directly engineering DAG1 in order to study the DG function in skeletal muscle as well as in other tissues. In the last years, conditional animal models overcoming the embryonic lethality of the DG knock-out in mouse have been generated and helped clarifying the crucial role of DG in skeletal muscle, while an increasing number of studies on knock-in mice are aimed at understanding the contribution of single amino acids to the stability of DG and to the possible development of muscular dystrophy.

  20. 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.

  1. 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

  2. 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

  3. 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.

  4. Drive for muscularity and disordered eating among French adolescent boys: a sociocultural model.

    Science.gov (United States)

    Rodgers, Rachel F; Ganchou, Camille; Franko, Debra L; Chabrol, Henri

    2012-06-01

    The pursuit of muscularity is an important body image concern among boys which has been described within sociocultural models of risk for eating disorders. This study explored a sociocultural model of disordered eating in which drive for thinness and pursuit of muscularity were both pathways to disordered eating among French adolescent boys. A sample of 146 adolescents completed a questionnaire assessing drive for thinness, drive for muscularity, media-ideal internalization, appearance comparison, and sociocultural pressure. The model was a good fit to the data and both drive for thinness and the pursuit of muscularity were related to disordered eating. Furthermore, internalization and appearance comparison mediated the relationships between pressure to increase muscle and both drive for muscularity and drive for thinness. Longitudinal research could help clarify the role of the pursuit of muscularity in the development of disordered eating and extreme body shape changing behaviors. PMID:22494958

  5. 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.

  6. 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.

  7. Respiratory function and the mechanism of cough in Duchenne Muscular Dystrophy

    OpenAIRE

    Ingrid de Castro Bolina Faria; Renata Menezes Dalmonch

    2009-01-01

    Objective: To describe the relationship between the inefficiency of the mechanism of cough and the degradation of respiratory function in patients with Duchenne Muscular Dystrophy (DMD). Methods: A documentary study carried out from the following databases: Pubmed, Cochrane and Scielo. The terms “Duchenne muscular Dystrophy”, “Respiratory Function” and “Peak Cough Flow” were used as descriptors, individually or in association. Articles that addressed other types of muscular dystrophy or were ...

  8. Emerging strategies for cell and gene therapy of the muscular dystrophies

    OpenAIRE

    Muir, Lindsey A.; Jeffrey S. Chamberlain

    2009-01-01

    The muscular dystrophies are a heterogeneous group of over 40 disorders that are characterised by muscle weakness and wasting. The most common are Duchenne muscular dystrophy and Becker muscular dystrophy, which result from mutations within the gene encoding dystrophin; myotonic dystrophy type 1, which results from an expanded trinucleotide repeat in the myotonic dystrophy protein kinase gene; and facioscapulohumeral dystrophy, which is associated with contractions in the subtelomeric region ...

  9. Skeletal muscle homeostasis in Duchenne muscular dystrophy : modulating autophagy as a promising therapeutic strategy

    OpenAIRE

    Clara De Palma; Emilio Clementi; Davide Cervia

    2014-01-01

    Muscular dystrophies are a group of genetic and heterogeneous neuromuscular disorders characterized by the primary wasting of skeletal muscle. In Duchenne muscular dystrophy (DMD), the most severe form of these diseases, the mutations in the dystrophin gene lead to muscle weakness and wasting, exhaustion of muscular regenerative capacity, and chronic local inflammation leading to substitution of myofibers by connective and adipose tissue. DMD patients suffer from continuous and progressive sk...

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

    OpenAIRE

    Kunkel, Louis M; Bachrach, Estanislao; Bennett, Richard R.; Guyon, Jeffrey; Steffen, Leta

    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...

  11. Merosin-Deficient Congenital Muscular Dystrophy (MDCMD): A Case Report with MRI, MRS and DTI Findings

    OpenAIRE

    Ip, Janice JK; Hui, Peter KT; Chau, MT; Lam, Wendy WM

    2012-01-01

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and contractures. Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth. A particular subset of classic CMD is characterized by a complete absence of merosin. Merosin-deficient congenital muscular dystrophy (MDCMD) is a rare genetic disease involving the central and periphe...

  12. Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice.

    OpenAIRE

    Chapman, V M; Miller, D R; Armstrong, D; Caskey, C. T.

    1989-01-01

    We have used elevated levels of plasma creatine phosphokinase activity to identify muscular dystrophy phenotypes in mice and to screen the progeny of chemical mutagen-treated male mice for X chromosome-linked muscular dystrophy mutations. We were not successful in identifying heterozygous carriers of these induced muscular dystrophy mutations in greater than 8000 progeny. However, we were highly successful in identifying three additional alleles of the characterized mdx locus. These alleles o...

  13. Latent TGF-β–binding protein 4 modifies muscular dystrophy in mice

    OpenAIRE

    Heydemann, Ahlke; Ceco, Ermelinda; Lim, Jackie E.; Hadhazy, Michele; Ryder, Pearl; Moran, Jennifer L; Beier, David R.; Palmer, Abraham A.; McNally, Elizabeth M.

    2009-01-01

    Most single-gene diseases, including muscular dystrophy, display a nonuniform phenotype. Phenotypic variability arises, in part, due to the presence of genetic modifiers that enhance or suppress the disease process. We employed an unbiased mapping approach to search for genes that modify muscular dystrophy in mice. In a genome-wide scan, we identified a single strong locus on chromosome 7 that influenced two pathological features of muscular dystrophy, muscle membrane permeability and muscle ...

  14. Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients.

    OpenAIRE

    Anand A; Prabhakar S; Kaul D

    1999-01-01

    Duchenne muscular dystrophy (DMD), with an incidence of one in 3500 male new borns, and its milder variant, Becker muscular dystrophy (BMD), are allelic X-linked recessive disorders, caused by mutations in the gene coding for dystrophin, a 427 kD cytoskeleton protein. There are no available molecular markers to differentiate these two. The purpose of this study was to study genetic polymorphism in muscular dystrophy and explore its potential in discriminating these two allelic forms of the di...

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

    OpenAIRE

    Straub, Volker; Rafael, Jill A.; Jeffrey S. Chamberlain; Campbell, Kevin P.

    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...

  16. SIRT1: A Novel Target for the Treatment of Muscular Dystrophies

    OpenAIRE

    Atsushi Kuno; Yoshiyuki Horio

    2016-01-01

    Muscular dystrophies are inherited myogenic disorders accompanied by progressive skeletal muscle weakness and degeneration. Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and is caused by mutations in the gene that encodes the cytoskeletal protein dystrophin. The treatment for DMD is limited to glucocorticoids, which are associated with multiple side effects. Thus, the identification of novel therapeutic targets is urgently needed. SIRT1 is an NAD+-...

  17. Elimination of Myostatin Does Not Combat Muscular Dystrophy in dy Mice but Increases Postnatal Lethality

    OpenAIRE

    Li, Zhi-fang; Shelton, G Diane; Engvall, Eva

    2005-01-01

    Myostatin is a TGF-β family member and a negative regulator of skeletal muscle growth. It has been proposed that reduction or elimination of myostatin could be a treatment for degenerative muscle diseases such as muscular dystrophy. Laminin-deficient congenital muscular dystrophy is one of the most severe forms of muscular dystrophy. To test the possibility of ameliorating the dystrophic phenotype in laminin deficiency by eliminating myostatin, we crossed dyW laminin α2-deficient and myostati...

  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. A Laboratory Experiment on Muscular Metabolism and Fatigue Using the Isolated Frog Muscle Preparation.

    Science.gov (United States)

    Ianuzzo, C. David; And Others

    1987-01-01

    Describes an experiment which demonstrates the association of particular metabolic biochemical changes and muscular fatigue. Highlights applications related to cellular energy metabolism, metabolic regulation, and muscle energetics. (ML)

  20. 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...

  1. 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

  2. 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

  3. Tracking the Development of Muscular Myoglobin Stores in Mysticete Calves.

    Directory of Open Access Journals (Sweden)

    Rachel Cartwright

    Full Text Available For marine mammals, the ability to tolerate apnea and make extended dives is a defining adaptive trait, facilitating the exploitation of marine food resources. Elevated levels of myoglobin within the muscles are a consistent hallmark of this trait, allowing oxygen collected at the surface to be stored in the muscles and subsequently used to support extended dives. In mysticetes, the largest of marine predators, details on muscular myoglobin levels are limited. The developmental trajectory of muscular myoglobin stores has yet to be documented and any physiological links between early behavior and the development of muscular myoglobin stores remain unknown. In this study, we used muscle tissue samples from stranded mysticetes to investigate these issues. Samples from three different age cohorts and three species of mysticetes were included (total sample size = 18. Results indicate that in mysticete calves, muscle myoglobin stores comprise only a small percentage (17-23% of conspecific adult myoglobin complements. Development of elevated myoglobin levels is protracted over the course of extended maturation in mysticetes. Additionally, comparisons of myoglobin levels between and within muscles, along with details of interspecific differences in rates of accumulation of myoglobin in very young mysticetes, suggest that levels of exercise may influence the rate of development of myoglobin stores in young mysticetes. This new information infers a close interplay between the physiology, ontogeny and early life history of young mysticetes and provides new insight into the pressures that may shape adaptive strategies in migratory mysticetes. Furthermore, the study highlights the vulnerability of specific age cohorts to impending changes in the availability of foraging habitat and marine resources.

  4. New aspects on patients affected by dysferlin deficient muscular dystrophy

    Science.gov (United States)

    Klinge, Lars; Aboumousa, Ahmed; Eagle, Michelle; Hudson, Judith; Sarkozy, Anna; Vita, Gianluca; Charlton, Richard; Roberts, Mark; Straub, Volker; Barresi, Rita; Lochmüller, Hanns

    2009-01-01

    Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, in the first UK study of clinical, genetic, pathological and biochemical data. The diagnosis was established by reduction of dysferlin in the muscle biopsy and subsequent mutational analysis of the dysferlin gene. Seventeen mutations were novel; the majority of mutations were small deletions/insertions, and no mutational hotspots were identified. Sixty-one per cent of patients (22 patients) initially presented with limb girdle muscular dystrophy 2B, 31% (11 patients) with a Miyoshi phenotype, one patient with proximodistal mode of onset, one patient with muscle stiffness after exercise and one patient as a symptomatic carrier. A wider range of age of onset was noted than previously reported, with 25% of patients having first symptoms before the age of 13 years. Independent of the initial mode of presentation, in our cohort of patients the gastrocnemius muscle was the most severely affected muscle leading to an inability to stand on tiptoes, and lower limbs were affected more severely than upper limbs. As previous anecdotal evidence on patients affected by dysferlinopathy suggests good muscle prowess before onset of symptoms, we also investigated pre-symptomatic fitness levels of the patients. Fifty-three per cent of the patients were very active and sporty before the onset of symptoms which makes the clinical course of dysferlinopathy unusual within the different forms of muscular dystrophy and provides a challenge to understanding the underlying pathomechanisms in this disease. PMID:19528035

  5. 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. PMID:26155063

  6. Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy

    OpenAIRE

    Costa, Marcelo Fernandes; Oliveira, Andre Gustavo Fernandes; Feitosa-Santana, Claudia; Zatz, Mayana; Ventura, Dora Fix

    2008-01-01

    The present study evaluated the color vision of 44 patients with Duchenne muscular dystrophy (DMD) (mean age 14.8 years; SD 4.9) who were submitted to a battery of four different color tests: Cambridge Colour Test (CCT), Neitz Anomaloscope, Ishihara, and American Optical Hardy-Rand-Rittler (AO H-R-R). Patients were divided into two groups according to the region of deletion in the dystrophin gene: upstream of exon 30 (n=12) and downstream of exon 30 (n=32). The control group was composed of 7...

  7. The research progress of clinical diagnosis of spinal muscular atrophy

    Directory of Open Access Journals (Sweden)

    WANG Ning

    2012-06-01

    Full Text Available Spinal muscular atrophy (SMA is a common autosomal recessive neuromuscular disease caused by degeneration of anterior horn cell in spinal cord. The clinical feature is characterized by progressive symmetrical myasthenia and amyotrophia. The disease is caused by mutation of survival motor neuron (SMN1 gene. Four clinical types are defined for SMA: type Ⅰ, Ⅱ, Ⅲ and Ⅳ. The diagnosis depends on clinical manifestation, inherited history, laboratory test and genetic analysis. To date, there is no effective treatment for SMA, so prenatal diagnosis and carrier screening are important for the prevention of this disease.

  8. Actas de Bioquímica: Contractilidade muscular

    OpenAIRE

    Silva, João Alcindo Martins e, 1942-; Ribeiro, Carlos

    1989-01-01

    1.º Curso avançado de Bioquímica aplicada à Medicina: Contractilidade muscular. Lisboa, 15 e 16 de Dezembro de 1986. As actas do Instituto de Bioquímica destinam-se fundamentalmente à publicação dos textos completos, lições, conferências e outros trabalhos apresentados em Cursos Avançados de Pós-Graduação ou Simpósios Científicos organizados, no todo ou em parte, pelo Instituto de Bioquímica da Faculdade de Medicina da Universidade de Lisboa. Adicionalmente, poderão incluir artigos orig...

  9. The pyrophosphate heart scintigram in children with progressive muscular dystrophy

    International Nuclear Information System (INIS)

    A pyrophosphate heart scintigram was obtained in 16 boys with progressive muscular dystrophy Duchenne. All of them showed pathological ECG findings and high plasma levels of CK, AST, ALT and LD. In 4 patients the scintigram was distinctly positive and in further 3 it reached borderline values. The remaining 9 boys had normal scintigraphic findings. Those with a positive heart scintigram had very high plasma levels of the enzymes under study which was suggestive of current progression of the disease. There was, however, no relation between heart scintigraphy and the affliction of the skeletal muscles expressed by means of an index. (orig.)

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

    Science.gov (United States)

    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 oligonucleotides (2'-O-methyl phosphorothioate (2OME-PS), phosphorodiamidate morpholino oligomer (PMO)) and peptide nucleic acid (PNA). PMID:21686247

  11. 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...

  12. Functional muscle ischemia in Duchenne and Becker muscular dystrophy

    OpenAIRE

    GailDThomas

    2013-01-01

    Duchenne and Becker muscular dystrophy (DMD/BMD) comprise a spectrum of devastating X-linked muscle wasting disease for which there is no treatment. DMD/BMD is caused by mutations in the gene encoding dystrophin, a cytoskeletal protein that stabilizes the muscle membrane and also targets other proteins to the sarcolemma. Among these is the muscle-specific isoform of neuronal nitric oxide synthase (nNOSµ) which binds spectrin-like repeats within dystrophin’s rod domain and the adaptor pro...

  13. Merosin-negative congenital muscular dystrophy: Report of five cases

    OpenAIRE

    Faruk Incecik; Ozlem M Herguner; Serdar Ceylaner; Sakir Altunbasak

    2015-01-01

    Context: Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the laminin α-2 gene encoding laminin-a2. Aims: The purpose of this study is to determine clinical and genetic results in five Turkish patients with MDC1A. Setting and Designs: Five children with MDC1A were retrospectively analyzed. Results: Three (60%) were boys, and 2 (40%) were girls. Parental consanguinity was found in all the families. In all the patients, hypotonia, weakness, delayed motor milestones, marke...

  14. A genetic study of Duchenne muscular dystrophy in West Midlands.

    OpenAIRE

    Bundey, S

    1981-01-01

    A study of Duchenne muscular dystrophy has shown an approximate prevalence of the disease among schoolboys to be 1 in 4000. Fifty-four families were available for genetic studies. In 19 families there were further affected cases and in 34 families the index patients was an isolated case. The proportion of affected brothers was 0.22 (11 of 50). There were 142 female relatives who had a risk of 1 in 10 or worse of being carriers: 66 of these were aged under 16. As genetic counselling is being i...

  15. 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

  16. Cell and gene therapy in Duchenne muscular dystrophy.

    Science.gov (United States)

    Morgan, J E

    1994-02-01

    Experiments in mice have supported the idea of treating Duchenne muscular dystrophy (DMD) by implanting normal muscle precursor cells into dystrophin-deficient muscles. However, similar experiments on DMD patients have had little success. Gene therapy for DMD, by introducing dystrophin constructs via retroviral or adenoviral vectors, has been shown to be possible in the mouse, but the efficiency and safety aspects of this technique will have to be carefully examined before similar experiments can be attempted in man. Direct injection of dystrophin cDNA constructs into mdx muscles has given rise to very low levels of dystrophin and this may be a possibility for the treatment of heart muscle. PMID:7514447

  17. 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

  18. Nutritional muscular dystrophy in a four-day-old Connemara foal

    OpenAIRE

    Katz LM; O'Dwyer S; Pollock PJ

    2009-01-01

    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.

  19. Control of exercise-induced muscular glycogenolysis by adrenal medullary hormones in rats

    DEFF Research Database (Denmark)

    Richter, Erik; Galbo, H; Christensen, N J

    1981-01-01

    or continued swimming to exhaustion. The exercise-induced muscular glycogenolysis was markedly impeded by adrenodemedullation but not by sympathectomy. During the first 75 min of exercise, hepatic glycogenolysis was decreased in adrenodemedullated rats compared with sham-operated rats, and blood glucose only...... muscular glycogenolysis, glucagon secretion, and the early hepatic glycogenolysis but inhibit insulin secretion....

  20. Role of epinephrine for muscular glycogenolysis and pancreatic hormonal secretion in running rats

    DEFF Research Database (Denmark)

    Richter, Erik; Sonne, B; Christensen, N J;

    1981-01-01

    We have previously shown that during swimming muscular glycogen breakdown was diminished and plasma glucagon and insulin were lower and higher, respectively, in adrenodemedullated rats compared to controls. These findings might be due to a lower work intensity or higher efficiency in adrenodemedu...... on muscular glycogenolysis, glucagon secretion, and heart rate and an acute depressing effect on insulin secretion....

  1. Experimental Treatment for Duchenne Muscular Dystrophy Gets Boost from Existing Medication

    Science.gov (United States)

    ... of muscle strength. Mice with a mutant dystrophin gene, which have a muscular dystrophy-like disease, can only hang for about 20 ... suggest that ryanodine-targeting drugs may help improve therapy for children with ... Mouse Models of Duchenne Muscular Dystrophy. Sci Transl Med .13 Dec 2012. 4, 164 ...

  2. Case of early pelviolumeral progressive muscular dystrophy associated with marked heart affection

    International Nuclear Information System (INIS)

    A case of early pelviolumeral progressive muscular dystrophy detected in childhood and associated with marked heart affection is described. Patient underwent multimodality examination, including ECG, ultrasonography, roentgenography. It is shown that patients with progressive muscular dystrophy should receive medical supervision and treatment of both neuropathologist and therapist

  3. Successful treatment of murine muscular dystrophy with the proteinase inhibitor leupeptin.

    OpenAIRE

    Sher, J H; Stracher, A.; Shafiq, S A; Hardy-Stashin, J

    1981-01-01

    Mice with genetic muscular dystrophy were treated with intraperitoneal injections of the proteinase inhibitor leupeptin, beginning before the onset of weakness. A significant number of the treated animals failed to develop histological evidence of dystrophy, compared with controls. Leupeptin treatment prevented (or delayed) the onset of muscular dystrophy in this experiment.

  4. 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....

  5. X-rays computed tomographic scans of lower limb and trunk muscles in facioscapulohumeral muscular dystrophy

    International Nuclear Information System (INIS)

    X-rays computed tomographic (CT) scans of muscles of the lower limbs and the trunk in 14 patients with facioscapulohumeral muscular dystrophy (FSH) were studied. The CT scans showed that the affected muscles were decreased in density and size. The laterality of muscular involvement was sometimes observed. The muscular lesions in the lower limbs showed proximal distribution. In the thigh, the hamstrings were affected first, the adductor muscles second, and then the muscular involvement progressed to the quadriceps femoris muscle. In the lower leg, the gastrocnemius and soleus muscles were relatively spared as compared with the tibialis anterior muscle. In the lumbar girdle, the abdominal muscles were involved first, the gluteal muscles second, the back muscles third, and the psoas major muscle were relatively spared. The muscular weakness of this distribution exacerbated lumbar lordosis. The neck muscles were less affected than those of the lumbar girdle. The CT scans in FSH demonstrated the characteristic pattern of muscular involvement, which differed from the inherited muscular diseases such as Duchenne muscular dystrophy, myotonic dystrophy, and others. (author)

  6. 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…

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

    NARCIS (Netherlands)

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

    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

  8. 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...

  9. 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 (

  10. 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…

  11. Scalpel or Straitjacket: CRISPR/Cas9 Approaches for Muscular Dystrophies.

    Science.gov (United States)

    Himeda, Charis L; Jones, Takako I; Jones, Peter L

    2016-04-01

    Versatility of CRISPR/Cas9-based platforms makes them promising tools for the correction of diverse genetic/epigenetic disorders. Here we contrast the use of these genome editing tools in two myopathies with very different molecular origins: Duchenne muscular dystrophy, a monogenetic disease, and facioscapulohumeral muscular dystrophy, an epigenetic disorder with unique therapeutic challenges. PMID:26917062

  12. Tongue fasciculations in an infant with spinal muscular atrophy type 1

    OpenAIRE

    Giannopoulou, Eleni Z; Martin, Thomas; Wirth, Brunhilde; Yilmaz, Umut; Gortner, Ludwig; Meyer, Sascha

    2015-01-01

    Key Clinical Message Muscular hypotonia in infants may be associated with several conditions, such as spinal muscular atrophy (SMA). We report on an infant with tongue fasciculations and a rare mutation of the SMN1 gene. The presence of tongue fasciculations in combination with a thorough history may be suggestive of SMA.

  13. 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

  14. 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…

  15. 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,…

  16. 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.

  17. Becker Muscular Dystrophy-Like Myopathy Regarded as So-Called “Fatty Muscular Dystrophy” in a Pig: A Case Report and Its Diagnostic Method

    OpenAIRE

    HORIUCHI, Noriyuki; Aihara, Naoyuki; Mizutani, Hiroshi; KOUSAKA, Shinichi; NAGAFUCHI, Tsuneyuki; Ochiai, Mariko; Ochiai, Kazuhiko; KOBAYASHI, Yoshiyasu; Furuoka, Hidefumi; Asai, Tetsuo; Oishi, Koji

    2013-01-01

    ABSTRACT We describe a case of human Becker muscular dystrophy (BMD)-like myopathy that was characterized by the declined stainability of dystrophin at sarcolemma in a pig and the immunostaining for dystrophin on the formalin-fixed, paraffin-embedded (FFPE) tissue. The present case was found in a meat inspection center. The pig looked appeared healthy at the ante-mortem inspection. Muscular abnormalities were detected after carcass dressing as pale, discolored skeletal muscles with prominent ...

  18. Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.

    Science.gov (United States)

    Johnson, W G; Wigger, H J; Karp, H R; Glaubiger, L M; Rowland, L P

    1982-01-01

    A 24-year-old Ashkenazi Jewish man was evaluated for a nine-year history of progressive leg weakness with fasciculations. Electromyography, nerve conduction velocities, muscle biopsy, and serum creatine kinase were consistent with anterior horn cell disease. On rectal biopsy, ganglion cells were filled with membranous cytoplasmic bodies and an unusual submucosal layer of periodic acid-Schiff positive histiocytes filled with granules was seen. Hexosaminidase A in serum and leukocytes was severely decreased in the patient and partially decreased in parents and a brother. A paternal relative had classic infantile Tay-Sachs disease. Juvenile spinal muscular atrophy in this patient, closely resembling the Kugelberg-Welander phenotype, resulted from an alpha-locus hexosaminidase deficiency disorder, possibly a genetic compound of HEX alpha 2 and a milder hexosaminidase alpha-locus allele. Other cases of hexosaminidase deficiency have included anterior horn cell disease as part of a more complex disorder, but this is the first case, to our knowledge, of a hexosaminidase deficiency disorder presenting as spinal muscular atrophy. PMID:6460466

  19. 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.

  20. 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.

  1. 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

  2. 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

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. The Effect of Enalapril and Carvedilol on Left Ventricular Dysfunction in Middle Childhood and Adolescent Patients With Muscular Dystrophy

    OpenAIRE

    Kwon, Hye Won; Kwon, Bo Sang; Kim, Gi Beom; Chae, Jong Hee; Park, June Dong; Bae, Eun Jung; Noh, Chung Il

    2012-01-01

    Background and Objectives In Duchenne and Becker muscular dystrophies, cardiac function deteriorates with time resulting in heart failure which is often fatal. We prospectively evaluated the effect of enalapril and carvedilol on left ventricular (LV) dysfunction in middle childhood and adolescent patients with muscular dystrophy. Subjects and Methods Twenty-three patients with LV dysfunction (22 with Duchenne muscular dystrophy, 1 with Becker muscular dystrophy) were enrolled. We prescribed e...

  8. 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.

  9. Interpretation of "Diagnosis and management of Duchenne muscular dystrophy: a guide for families (2011 version"

    Directory of Open Access Journals (Sweden)

    Xi-hua LI

    2015-05-01

    Full Text Available The guideline "Diagnosis and management of Duchenne muscular dystrophy" was supported by a 3-year-long project guided by US Centers for Disease Control and Prevention (CDC, in collaboration with patient advocacy groups [Muscular Dystrophy Association (MDA, Parent Project Muscular Dystrophy (PPMD and United Parent Projects Muscular Dystrophy (UPPMD] and Translational Research in Europe: Assessment and Treatment of Neuromuscular Disease (TREAT-NMD network. The main document was published in Lancet Neurol in 2010. The recommendations are based on an extensive study by 84 international experts in Duchenne muscular dystrophy (DMD diagnosis and care who were chosen to represent a broad range of specialties. This guideline covers diagnostics, steroid treatment, rehabilitation, orthopedics, pulmonary, cardiac, gastrointestinal, psychosocial, surgical and emergency management of DMD. This guideline is recommended as the first choice by TREAT- NMD for DMD diagnosis and care. DOI: 10.3969/j.issn.1672-6731.2015.05.003

  10. Laminin alpha2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice

    DEFF Research Database (Denmark)

    Guo, L T; Zhang, X U; Kuang, W;

    2003-01-01

    Deficiency of laminin alpha2 is the cause of one of the most severe muscular dystrophies in humans and other species. It is not yet clear how particular mutations in the laminin alpha2 chain gene affect protein expression, and how abnormal levels or structure of the protein affect disease. Animal...... substantially prevented the muscular dystrophy in these mice. However, dy(W)/dy(W) mice, expressing the human laminin alpha2 under the control of the striated muscle-specific portion of the desmin promoter, still developed muscular dystrophy. This failure to rescue is apparently because of insufficient...... production of laminin alpha2. This study provides additional evidence that the amount of laminin alpha2 is most critical for the prevention of muscular dystrophy. These data may thus be of significance for attempts to treat congenital muscular dystrophy in human patients....

  11. Improving Stem Cell-Based Therapy and Developing a Novel Gene Therapy Approach for Treating Duchenne Muscular Dystrophy (DMD)

    OpenAIRE

    Tabebordbar, Mohammadsharif

    2016-01-01

    Genetic mutations in muscle structural genes can compromise myofiber integrity, causing repeated muscle damage that ultimately exhausts muscle regenerative capacity and results in devastating degenerative conditions such as Duchenne Muscular Dystrophy (DMD), Congenital Muscular Dystrophy (CMD) and different forms of Limb Girdle Muscular Dystrophy (LGMD). Gene supplementation and autologous stem cell transplant have been put forward as promising, though still unproven, therapeutic avenues for ...

  12. 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…

  13. 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.

  14. Distrofia muscular congênita e deficiência de merosina Congenital muscular dystrophy and merosin deficiency

    Directory of Open Access Journals (Sweden)

    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

  15. 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

  16. 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

  17. 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

  18. mdm Muscular Dystrophy: Interactions with Calpain 3 and a Novel Functional Role for Titin’s N2A Domain

    OpenAIRE

    Huebsch, Kimberly A.; Kudryashova, Elena; WOOLEY, CHRISTINE M.; SHER, ROGER B.; Seburn, Kevin L.; Spencer, Melissa J.; Cox, Gregory A.

    2005-01-01

    Human tibial muscular dystrophy (TMD) and limb-girdle muscular dystrophy 2J (LGMD2J) are caused by mutations in the giant sarcomeric protein titin (TTN) adjacent to a binding site for the muscle-specific protease calpain 3 (CAPN3). Muscular dystrophy with myositis (mdm) is a recessive mouse mutation with severe and progressive muscular degeneration caused by a deletion in the N2A domain of titin (TTN-N2AΔ83), disrupting a putative binding site for CAPN3. To determine whether the muscular dyst...

  19. Dental characteristics of patients with Duchenne muscular dystrophy.

    Science.gov (United States)

    Symons, A L; Townsend, G C; Hughes, T E

    2002-01-01

    A comprehensive assessment of the dental characteristics of 23 patients with Duchenne muscular dystrophy (DMD) was carried out, based on dental records, oral examinations and dental models. Decreasing muscle function was associated with increased plaque and calculus accumulation, leading to gingival inflammation, but caries experience was low. Disturbances in tooth form, number and eruption of the second premolars were observed in 39% of patients. Anterior and posterior open bites were common, associated with lip incompetence, mouth breathing, macroglossia and tongue thrusting. Maxillary and mandibular arch breadths were significantly larger, on average, in the DMD group than in controls. Rather than a normal parabolic arch form, the dental arches in DMD patients tended to be hyperbolic, with the posterior teeth being displaced buccally, consistent with an imbalance between the lingual and facial musculature. PMID:12613312

  20. Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability

    Science.gov (United States)

    Liu, Huisheng; Lu, Jianfeng; Chen, Hong; Du, Zhongwei; Li, Xue-Jun; Zhang, Su-Chun

    2015-01-01

    Spinal muscular atrophy (SMA) presents severe muscle weakness with limited motor neuron (MN) loss at an early stage, suggesting potential functional alterations in MNs that contribute to SMA symptom presentation. Using SMA induced pluripotent stem cells (iPSCs), we found that SMA MNs displayed hyperexcitability with increased membrane input resistance, hyperpolarized threshold, and larger action potential amplitude, which was mimicked by knocking down full length survival motor neuron (SMN) in non-SMA MNs. We further discovered that SMA MNs exhibit enhanced sodium channel activities with increased current amplitude and facilitated recovery, which was corrected by restoration of SMN1 in SMA MNs. Together we propose that SMN reduction results in MN hyperexcitability and impaired neurotransmission, the latter of which exacerbate each other via a feedback loop, thus contributing to severe symptoms at an early stage of SMA. PMID:26190808

  1. 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

  2. Yesterday, today and tomorrow of Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Cheng ZHANG

    2015-05-01

    Full Text Available The research history of Duchenne muscular dystrophy (DMD may be roughly divided into 3 phases: clinical describing (1836-1985, molecular diagnosis and exploratory therapy (1985-2020, and the pathogenesis illuminating, gene therapy or treatment against the pathogenesis (2020-. During 1836-1985, doctors described the variation of medical history, clinical signs and symptoms, pathology, biochemistry, and genetic regularity of DMD. During 1985-2020, the scientists set up molecular diagnostic methods and exploratory therapy regimens of DMD. After 2020, some gene therapies, for example, the regimens of exon skipping and reading through, may be used in clinical practice. DOI: 10.3969/j.issn.1672-6731.2015.05.002

  3. The imaging research of myocardial damage in Duchenne muscular dystrophy

    International Nuclear Information System (INIS)

    It is common that Duchenne muscular dystrophy (DMD) patients can suffer from cardiac damage, which performed variously. Cardiac damage in DMD often be paid no attention in early stage,since the clinical symptoms is slight. With the decline of cardiac function, the quality of life, treatment and rehabilitation training of patients will be affected significantly. Furthermore, the progress of the disease will be speeded up and the difficulty of treatment will be increased. Therefore, there will be important significance in delaying the progression of cardiac damage and prolonging the life of patients by the early diagnosis and intervention treatment of cardiac damage in DMD. For the convenience of the clinician to choose suitable imaging methods, to improve the cardiac damage in patients of DMD, imaging researches which are applied to the DMD cardiac damage are reviewed. (authors)

  4. Muscularity concerns among men: development of attitudinal and perceptual measures.

    Science.gov (United States)

    Hildebrandt, Tom; Langenbucher, Jim; Schlundt, David G

    2004-05-01

    The current study reports the development and psychometrics of a figure rating scale with leanness and muscularity dimensions and a 13-item questionnaire assessing symptoms associated with muscle dysmorphia (MD). Three separate samples of men and women completed the muscle dysmorphic disorder inventory (MDDI), the bodybuilder image grid (BIG) or both to measure 1-week test-retest reliability, internal consistency, convergent and divergent validity and valid placement of BIG figures along interval scales of body fat and lean muscle mass. The MDDI and MDDI subscales (drive for size, appearance intolerance, and functional impairment) had good reliability, internal consistency, convergent and divergent validity. The BIG had good to excellent test-retest reliability, good convergent and divergent validity and validity as an interval scale. Implications for characterizing body image disturbance in men and benefits and limitations of the measures are discussed. PMID:18089149

  5. 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.

  6. 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.

  7. 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.

  8. [Aran-Duchenne? Duchenne-Aran? The quarrel around progressive muscular atrophy].

    Science.gov (United States)

    Bonduelle, M

    1990-01-01

    A description of progressive muscular atrophy, the first item in neuro-muscular nosography, figures in the memoir published by F.A. Aran in 1850. There, all the essential features of the disease can be found: its usual onset at the distal end of the upper limbs, its slowly progressive worsening, with muscular atrophy sparing certain muscles or muscular fascicles, its peculiar "claw hand", its muscular "fasciculations" and cramps, with untouched sensitivity. After praising Aran's "beautiful description", G.B. Duchenne de Boulogne subsequently persisted in claiming paternity, untiringly referring to a memoir on "muscular atrophy with fatty transformation" said to have been submitted to the Académie des Sciences in 1849. There is no trace of this memoir, and while it is true that the "localized electrisation" technique was applied by Duchenne to all the patients in Aran's memoir, and that he was the sole author of two of his observations, it is Aran who must be credited with the clinical description, the synthetic presentation and the appellation of "progressive muscular atrophy". Initially, this term covered a number of disparate facts which were later identified and put in their proper nosological place, even though this dismemberment left standing what Charcot called "Duchenne-Aran disease" before the Aran-Duchenne denomination prevailed. This denomination is now customary, and rightly so. PMID:2181591

  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. Independent Association of Muscular Strength and Carotid Intima-Media Thickness in Children.

    Science.gov (United States)

    Melo, X; Santa-Clara, H; Santos, D A; Pimenta, N M; Minderico, C S; Fernhall, B; Sardinha, L B

    2015-07-01

    The aim of this cross-sectional study was to examine the influence of muscular strength on carotid intima-media thickness (cIMT) in children, controlling for the effect of cardiorespiratory fitness (CRF) and central adiposity and to examine if differences among muscular strength tertiles translate to physiological differences. We assessed cIMT of the common carotid artery in 366 children between 11-12 years of age (191 girls). Measures included cIMT assessed with high-resolution ultrasonography, a maximal handgrip strength test, body fat mass and lean mass from DXA and CRF determined using a maximal cycle ergometer test. Association between muscular strength and cIMT adjusted for CRF and central adiposity, as measured by trunk fat, was tested with multiple linear regression analysis. Differences in risk factors among muscular strength groups were tested with ANOVA. The Muscular Strength Index (MSI) was inversely associated with cIMT independently of CRF and central adiposity (p<0.05). The low MSI group had the highest values of cIMT, waist circumference and systolic blood pressure and the lowest CRF (p<0.05). There was an inverse and independent association between muscular strength and cIMT. Low muscular strength was associated with higher levels of cardiovascular disease risk factors in children. PMID:25875317

  11. A review of nutrition in Duchenne muscular dystrophy.

    Science.gov (United States)

    Davidson, Z E; Truby, H

    2009-10-01

    Duchenne muscular dystrophy (DMD) is a recessive X linked genetic disorder characterised by progressive muscle weakness and reduced muscle tone. Affecting only boys, it limits life expectancy to approximately 20 years. A literature review was conducted using MEDLINE and the Cochrane Library, employing the term 'Duchenne muscular dystrophy'. A total of 1491 articles in English were recovered. These papers were searched thematically under the headings: body composition (n = 10), energy expenditure (n = 10), nutrition (n = 6), corticosteroid therapy (n = 55) and gene therapy (n = 199). Key dietetic practice points were identified relevant to nutritional management. Papers supporting these key themes were assigned a level of evidence and grade of recommendation. There is limited high-quality evidence to guide the nutritional management of boys with DMD. Currently, the majority of evidence is based on expert opinion and clinical expertise. Delayed growth, short stature, muscle wasting and increased fat mass are characteristics of DMD and impact on nutritional status and energy requirements. The early introduction of steroids has altered the natural history of the disease, but can exacerbate weight gain in a population already susceptible to obesity. Prior to commencing steroids, anticipatory guidance for weight management should be provided. Malnutrition is a feature of end stage disease requiring a multidisciplinary approach, such as texture modification and supplemental feeding. Micronutrient requirements are yet to be determined but, as a result of corticosteroid treatment, vitamin D and calcium should be supplemented. Some evidence exists supporting supplementation with creatine monohydrate to improve muscle strength. More research is needed to provide a higher quality of evidence for dietitians working within this area. PMID:19743977

  12. [Genetic Diagnosis and Molecular Therapies for Duchenne Muscular Dystrophy].

    Science.gov (United States)

    Takeshima, Yasuhiro

    2015-10-01

    Duchenne muscular dystrophy (DMD) is the most common form of inherited muscle disease and is characterized by progressive muscle wasting, ultimately resulting in the death of patients in their twenties or thirties. DMD is characterized by a deficiency of the muscle dystrophin as a result of mutations in the dystrophin gene. Currently, no effective treatment for DMD is available. Promising molecular therapies which are mutation-specific have been developed. Transformation of an out-of-frame mRNA into an in-frame dystrophin message by inducing exon skipping is considered one of the approaches most likely to lead to success. We demonstrated that the intravenous administration of the antisense oligonucleotide against the splicing enhancer sequence results in exon skipping and production of the dystrophin protein in DMD case for the first time. After extensive studies, anti-sense oligonucleotides comprising different monomers have undergone clinical trials and provided favorable results, enabling improvements in ambulation of DMD patients. Induction of the read-through of nonsense mutations is expected to produce dystrophin in DMD patients with nonsense mutations, which are detected in 19% of DMD cases. The clinical effectiveness of gentamicin and PTC124 has been reported. We have demonstrated that arbekacin-mediated read-through can markedly ameliorate muscular dystrophy in vitro. We have already begun a clinical trial of nonsense mutation read-through therapy using arbekacin. Some of these drug candidates are planned to undergo submission for approval to regulatory agencies in the US and EU. We hope that these molecular therapies will contribute towards DMD treatment. PMID:26897856

  13. Duchenne muscular dystrophy gene therapy: Lost in translation?

    Directory of Open Access Journals (Sweden)

    Dongsheng Duan

    2011-03-01

    Full Text Available Dongsheng DuanDepartment of Molecular Microbiology and Immunology, School of Medicine, University of Missouri, Columbia, MO, USAAbstract: A milestone of molecular medicine is the identification of dystrophin gene mutation as the cause of Duchenne muscular dystrophy (DMD. Over the last 2 decades, major advances in dystrophin biology and gene delivery technology have created an opportunity to treat DMD with gene therapy. Remarkable success has been achieved in treating dystrophic mice. Several gene therapy strategies, including plasmid transfer, exon skipping, and adeno-associated virus-mediated microdystrophin therapy, have entered clinical trials. However, therapeutic benefit has not been realized in DMD patients. Bridging the gap between mice and humans is no doubt the most pressing issue facing DMD gene therapy now. In contrast to mice, dystrophin-deficient dogs are genetically and phenotypically similar to human patients. Preliminary gene therapy studies in the canine model may offer critical insights that cannot be obtained from murine studies. It is clear that the canine DMD model may represent an important link between mice and humans. Unfortunately, our current knowledge of dystrophic dogs is limited, and the full picture of disease progression remains to be clearly defined. We also lack rigorous outcome measures (such as in situ force measurement to monitor therapeutic efficacy in dystrophic dogs. Undoubtedly, maintaining a dystrophic dog colony is technically demanding, and the cost of dog studies cannot be underestimated. A carefully coordinated effort from the entire DMD community is needed to make the best use of the precious dog resource. Successful DMD gene therapy may depend on valid translational studies in dystrophin-deficient dogs.Keywords: Duchenne muscular dystrophy, gene therapy, dystrophin, adeno-associated virus, exon-skipping, canine model

  14. Neuroimaging study of Fukuyama type congenital muscular dystrophy

    International Nuclear Information System (INIS)

    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)

  15. Fukuyama type congenital muscular dystrophy with unusual features

    International Nuclear Information System (INIS)

    The Fukuyama type congenital muscular dystrophy (F-CMD) has been generally recognized as a well delineated subgroup of progressive muscular dystrophy (PMD) with uniform clinical, pathological, and genetic features. However, there are still debate to be solved as to the etiology of the condition, because several neuropathological findings found in F-CMD brain allowed some investigators to hypothesize the intrauterine infection to be a primary causation. The authors reported here two families with two affected siblings in each. In the pedigree A, consanguineous parents produced two sisters, Case 1 (3-year-old) and Case 2 (14-month-old). Two patients in the pedigree B, the products of non-consanguineous parents, Case 3 (4-month-old male) and his elder sister already decreased, were affected with F-CMD and infantile spasms. In all cases, generalized weakness and hypotonia had been remarkable since their early infancy, and muscle atrophy, myopathic facies multiple joint contractures and mental dullness became evident gradually. The above-mentioned clinical features as well as laboratory findings including elevated serum CPK and myogenic EMG were compatible with those of typical F-CMD. However, they were characterized by the following three unusual features. 1. Muscle biopsy: In addition to an overwhelming myogenic change, there was a distinct inflammatory cell infiltration in all cases, and scattered small groups of atrophic fibers were present in Case 2. 2. Brain CT scanning: A symmetrical and extensive low density area was observed in the cerebral white matter in all cases. 3. A favorable response to prednisolone therapy was noted in all 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. 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.

  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. Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression

    OpenAIRE

    Yoshihisa Ohtsuka; Motoi Kanagawa; Chih-Chieh Yu; Chiyomi Ito; Tomoko Chiyo; Kazuhiro Kobayashi; Takashi Okada; Shin'ichi Takeda; Tatsushi Toda

    2015-01-01

    α-Dystroglycanopathy (α-DGP) is a group of muscular dystrophy characterized by abnormal glycosylation of α-dystroglycan (α-DG), including Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease, Walker-Warburg syndrome, and congenital muscular dystrophy type 1D (MDC1D), etc. LARGE, the causative gene for MDC1D, encodes a glycosyltransferase to form [-3Xyl-α1,3GlcAβ1-] polymer in the terminal end of the post-phosphoryl moiety, which is essential for α-DG function. It has been p...

  1. P2RX7 Purinoceptor: A Therapeutic Target for Ameliorating the Symptoms of Duchenne Muscular Dystrophy

    OpenAIRE

    Anthony Sinadinos; Young, Christopher N. J.; Rasha Al-Khalidi; Anna Teti; Paweł Kalinski; Shafini Mohamad; Léonore Floriot; Tiphaine Henry; Gianluca Tozzi; Taiwen Jiang; Olivier Wurtz; Alexis Lefebvre; Mikhail Shugay; Jie Tong; David Vaudry

    2015-01-01

    Editors' Summary Background Muscular dystrophies are inherited diseases in which the body’s muscles gradually weaken and waste away. The most common and severe muscular dystrophy—Duchenne muscular dystrophy (DMD)—also includes cognitive (thinking) and behavioral impairments and low bone density as well as chronic inflammation. DMD affects about 1 in 3,500 boys; girls can be carriers of DMD but rarely have any symptoms. At birth, boys who carry a mutation (genetic change) in the gene that make...

  2. 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

    Histologic examination of muscle biopsies and functional examination comprising electromyography and force measurements in a 19-yr-old boy with muscular dystrophy showed different wasting patterns of mandibular elevator and depressor muscles. Pronounced histopathologic changes were present in the...... 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...

  3. Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy

    DEFF Research Database (Denmark)

    Berthelsen, Martin Peter; Husu, Edith; Christensen, Sofie Bouschinger;

    2014-01-01

    of their weakness. We investigated the functional effects of combined aerobic and strength training in patients with Becker and limb-girdle muscular dystrophies with knee muscle strength levels as low as 3% of normal strength. Eight patients performed 10weeks of aerobic and strength training on an anti...... affected patients with Becker and limb-girdle muscular dystrophies.......Recent studies in patients with muscular dystrophies suggest positive effects of aerobic and strength training. These studies focused training on using bicycle ergometers and conventional strength training, which precludes more severely affected patients from participating, because...

  4. Na+ Dysregulation Coupled with Ca2+ Entry through NCX1 Promotes Muscular Dystrophy in Mice

    OpenAIRE

    Burr, Adam R.; Millay, Douglas P.; Goonasekera, Sanjeewa A.; Park, Ki Ho; Sargent, Michelle A.; Collins, James; Altamirano, Francisco; Philipson, Kenneth D.; Allen, Paul D.; Ma, Jianjie; López, José Rafael; Molkentin, Jeffery D.

    2014-01-01

    Unregulated Ca2+ entry is thought to underlie muscular dystrophy. Here, we generated skeletal-muscle-specific transgenic (TG) mice expressing the Na+-Ca2+ exchanger 1 (NCX1) to model its identified augmentation during muscular dystrophy. The NCX1 transgene induced dystrophy-like disease in all hind-limb musculature, as well as exacerbated the muscle disease phenotypes in δ-sarcoglycan (Sgcd−/−), Dysf−/−, and mdx mouse models of muscular dystrophy. Antithetically, muscle-specific deletion of t...

  5. 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

  6. Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

    Science.gov (United States)

    Straub, Volker; Balabanov, Pavel; Bushby, Kate; Ensini, Monica; Goemans, Nathalie; De Luca, Annamaria; Pereda, Alejandra; Hemmings, Robert; Campion, Giles; Kaye, Edward; Arechavala-Gomeza, Virginia; Goyenvalle, Aurelie; Niks, Erik; Veldhuizen, Olav; Furlong, Pat; Stoyanova-Beninska, Violeta; Wood, Matthew J; Johnson, Alex; Mercuri, Eugenio; Muntoni, Francesco; Sepodes, Bruno; Haas, Manuel; Vroom, Elizabeth; Aartsma-Rus, Annemieke

    2016-07-01

    Duchenne muscular dystrophy is a rare, progressive, muscle-wasting disease leading to severe disability and premature death. Treatment is currently symptomatic, but several experimental therapies are in development. Implemented care standards, validated outcome measures correlating with clinical benefit, and comprehensive information about the natural history of the disease are essential for regulatory approval of any treatment. However, for Duchenne muscular dystrophy and other rare diseases, these requirements are not always in place when potential therapies enter the clinical trial phase. A cooperative effort of stakeholders in Duchenne muscular dystrophy-including representatives from patients' groups, academia, industry, and regulatory agencies-is aimed at addressing this shortfall by identifying strategies to overcome challenges, developing the tools needed, and collecting relevant data. An open and constructive dialogue among European stakeholders has positively affected development of treatments for Duchenne muscular dystrophy; this approach could serve as a paradigm for development of treatments for rare diseases in general. PMID:27302365

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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

  13. 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...

  14. 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.

  15. 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.

  16. Muscular strength after different types of training in physically active patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Sahlberg, M.; Svantesson, U.; Magnusson, Thomas E.;

    2008-01-01

    Physical training is important in the treatment of patients with cystic fibrosis (CF). Optimal types of training and intensity are unknown. The aim of the study was to evaluate the effect on muscular strength after 6 months of endurance training (ET) and/or resistance training (RT). Twenty patients....... Vitamin E and cytokines were analyzed. Fifteen tests of muscular strength were used. Handgrip strength in females and quadriceps strength in males were significantly decreased compared with healthy age- and sex-matched controls and positively associated with lung function. Sixteen patients completed...... in muscular strength after 6 months of controlled training, suggesting a physiological muscular impairment despite normal anthropometry, but associated with lung function Udgivelsesdato: 2008/12...

  17. 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 ...

  18. 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...

  19. Myostatin inhibition by a follistatin-derived peptide ameliorates the pathophysiology of muscular dystrophy model mice

    OpenAIRE

    Tsuchida, K.

    2008-01-01

    Gene-targeted therapies, such as adeno-associated viral vector (AAV)-mediated gene therapy and cell-mediated therapy using myogenic stem cells, are hopeful molecular strategies for muscular dystrophy. In addition, drug therapies based on the pathophysiology of muscular dystrophy patients are desirable. Multidisciplinary approaches to drug design would offer promising therapeutic strategies. Myostatin, a member of the transforming growth factor-β superfamily, is predominantly produced by skele...

  20. New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials

    OpenAIRE

    Cossu, Giulio; Sampaolesi, Maurilio

    2007-01-01

    Muscular dystrophies primarily affect skeletal muscle. Mutations in a large number of genes, mainly encoding cytoskeletal proteins, cause different forms of dystrophy that compromise patient mobility and quality of life, and in the most severe cases lead to complete paralysis and premature death. Although muscular dystrophies still lack an effective therapy, several novel strategies are entering or are ready to enter clinical trials. Here we review the main experimental strategies, namely dru...