Distrofia corneal de Schnyder

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Michel Guerra Almaguer

Full Text Available La principal entidad hereditaria con depósitos de lípidos en el estroma corneal es la distrofia cristalina central, conocida como distrofia de Schnyder, quien la describió en Suiza en 1927. Se caracteriza por depósitos blanco-amarillentos en el estroma corneal central y superficial. Se presenta un paciente de 28 años, del sexo masculino y piel negra, con antecedente de salud anterior. Acudió a consulta y refirió una disminución de la visión y cambio de coloración progresiva de ambos ojos, de años de evolución. En la exploración oftalmológica de ambos ojos se apreciaron lesiones blanquecinas anulares a nivel del estroma corneal, con ligera turbidez corneal central. Los estudios refractivos realizados constataron un astigmatismo hipermetrópico simple. El resto del examen oftalmológico fue negativo. Para el diagnóstico de certeza se empleó el microscopio confocal. Se concluye que el caso presenta una distrofia corneal estromal de tipo cristalina, de Schnyder.

Experiencias con distrofia simpática refleja

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John Jairo Hernández Castro

1993-07-01

Full Text Available Se presentan 30 pacientes con distrofia simpática refleja vistos en la Clínica del Dolor del Hospital San Juan de Dios de Santafé de Bogotá, entre enero de 1992 y julio de 1993. La mayoría de los enfermos son hombres entre los 20 y los 40 años. La causa de la entidad, en el 66.6% de los casos, es el trauma por proyectil de arma de fuego; los restantes fueron producidos per hernia discal lumbar, cirugía de hombro, operación cesárea, artroscopia de rodilla, herida cortante en mano, infarto del miocardio, ACV odusivo talámico, fractura de Colles, instrumentación de Luque y herida medular por arma cortante.

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

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Aline Andrade Freund

2007-03-01

Full Text Available Duchenne muscular dystrophy (DMD and Becker muscular dystrophy (BMD are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3' region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. The cases without deletions, which included the only woman in the study with DMD, had dystrophin deficiency. The symptomatic female carriers had no deletions but had abnormal dystrophin distribution in the sarcolemma (discontinuous immunostains. The following diagnoses were made for the remaining cases without deletions with the aid of a muscle biopsy: spinal muscular atrophy, congenital myopathy; sarcoglycan deficiency and unclassified limb-girdle muscular dystrophy. Dystrophin analysis by immunohistochemistry continues to be the most specific method for diagnosis of DMD/BMD and should be used when no exon deletions are found in the dystrophin gene in the blood.As distrofias musculares de Duchenne (DMD e de Becker (DMB são doenças causadas por mutação no gene da distrofina. Foram estudados 106 casos com a suspeita diagnóstica de DMD/BMD com a analise de 20 exons do gene da distrofina no sangue e biópsia muscular com imuno-histoquímica para distrofina em alguns casos. Em 71,7% dos casos foi encontrada deleção em pelo menos um dos exons, sendo que 68% das deleções localizam-se na região 3' hot spot. Foram encontradas deleções em 81,5% dos DMD e em todos os BMD, sendo que os sem deleção tinham deficiência de distrofina, incluindo a mulher com DMD. As portadoras sintomáticas não tinham deleções mas anormalidades na distribuição da distrofina no sarcolema. Os outros casos sem deleção, com auxilio da

Anestesia em paciente portador de distrofia muscular de Duchenne: relato de casos Anestesia en un paciente portador de distrofia muscular de Duchenne: relato de casos Anesthesia for Duchenne muscular dystrophy patients: case reports

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Rodrigo Machado Saldanha

2005-08-01

eficiente nos portadores de DMD.JUSTIFICATIVA Y OBJETIVOS: Relatar dos casos de anestesia en pacientes portadores de Distrofia Muscular de Duchenne (DMD, una enfermedad rara, progresiva e incapacitante, y discutir sobre la conducta anestésica y comprometimiento de las funciones pulmonar y cardiaca, la posibilidad de ocurrencia de hipertermia maligna, la mayor sensibilidad a los bloqueadores neuromusculares y el aumento de la morbidad pos-operatoria son algunos de los desafíos enfrentados por el Anestesiologista. RELATO DE LOS CASOS: El primer caso fue el de un paciente pediátrico con diagnóstico de DMD y rabdomiosarcoma, agendado para exéresis de la lesión y vaciamiento cervical ampliado. En la evaluación pre-anestésica, anamnesis, examen clínico y exámenes complementarios no fueron detectadas alteraciones, excepto por la tumoración cervical. Se optó por la técnica venosa total, con remifentanil en infusión continuada y propofol en infusión mira-controlada, sin la utilización de bloqueadores neuromusculares. El procedimiento quirúrgico tuvo duración de 180 minutos, sin intercurrencias. El segundo caso fue de un paciente del sexo masculino, 24 años, con diagnóstico de DMD y colelitiasis con indicación quirúrgica, en el cual la evaluación pre-operatoria reveló pneumopatia restrictiva grave, con disminuciones de la capacidad y de la reserva respiratorias, siendo necesario el uso de BIPAP nasal nocturno. En este paciente, se optó por la intubación traqueal con sedación mínima y anestesia tópica, seguida por la técnica venosa total con remifentanil en infusión continuada y propofol en infusión mira-controlada, sin la utilización de bloqueadores neuromusculares. Al término, el paciente fue extubado aún en la sala del operaciones e inmediatamente colocado en el BIPAP nasal. Encaminado a la UTI, con alta en el 2º PO y alta hospitalaria en el 3º PO. CONCLUSIONES: La anestesia venosa total con infusión continuada de propofol y remifentanil sin

Distrofia muscular de Duchenne: análise eletrocardiográfica de 131 pacientes Distrofia muscular de duchenne: análisis electrocardiográfica de 131 pacientes Duchenne muscular dystrophy: electrocardiographic analysis of 131 patients

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Maria Auxiliadora Bonfim Santos

2010-05-01

Full Text Available FUNDAMENTO: É conhecido o envolvimento cardíaco em pacientes com distrofia muscular de Duchenne (DMD. O eletrocardiograma (ECG apresenta algumas alterações típicas na DMD, fato que o torna um exame útil no diagnóstico da lesão cardíaca nessa patologia. OBJETIVO: Avaliar as alterações eletrocardiográficas em pacientes portadores de DMD, correlacionando-as com a idade da população estudada. MÉTODOS: Foram analisados os ECG de 131 pacientes com diagnóstico de DMD. Avaliaram-se diversas variáveis eletrocardiográficas, sendo os pacientes separados em dois grupos: aqueles com e sem alterações, por variável estudada. Fez-se a correlação desses dois grupos com a idade dos pacientes. Foram utilizados os critérios de Garson para estabelecer os parâmetros eletrocardiográficos de normalidade. RESULTADOS: O ECG estava anormal em 78,6% dos pacientes. Todos apresentavam ritmo sinusal. Foram os seguintes os percentuais encontrados para as principais variáveis estudadas: PR curto = 18,3%, ondas R anormais em V1 = 29,7%, ondas Q anormais em V6 = 21,3%, alterações da repolarização ventricular = 54,9%, ondas QS anormais em paredes inferior e/ou lateral alta = 37,4%, distúrbios de condução pelo ramo direito = 55,7%, intervalo QT C prolongado = 35,8% e alargamento do QRS = 23,6%. O teste t não pareado foi utilizado para se estabelecer a correlação da idade com as variáveis eletrocardiográficas estudadas nos dois grupos e, apenas a variável alteração da repolarização mostrou diferença estatisticamente significante. CONCLUSÃO: As alterações eletrocardiográficas na DMD são frequentes, revelando comprometimento cardíaco precoce. Apenas a variável alteração da repolarização ventricular foi mais frequente, porém em faixa etária menor (p FUNDAMENTO: Se sabe de la afectación cardíaca en pacientes con distrofia muscular de Duchenne (DMD. El electrocardiograma (ECG presenta algunas alteraciones típicas en la DMD

Distrofia oftalmoplégica progressiva. Forma de inicio ocular precoce e comprometimento muscular universal tardio Progressive ophthalmoplegic dystrophy

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João P. Rodrigues

1968-03-01

Full Text Available É estudada uma forma particular de distrofia muscular progressiva — forma óculo-faríngea — cujo diagnóstico foi comprovado mediante traçados eletromiográficos e biópsia do músculo orbicular da pálpebra. São analisadas as duas formas de distrofias oftalmoplégicas: 1 miopatia ocular; 2 miopatia óculo-faríngea. A forma óculo-faríngea é mais rara, incide em idades mais avançadas (média de 40 anos em comparação com a forma ocular pura (média de 23 anos; além disso, é ressaltada a alta incidência familiar daquela forma de miopatia. O caso ora registrado parece ser um élo entre as duas formas, pois o início foi precoce, sem incidência familiar e com comprometimento da deglutição e de músculos da face, pescoço, tronco, cintura escapular, pélvica e dos membros.A case of peculiar form of progressive muscular dystrophy — the oculopharyngeal one — is reported. The diagnosis was ascertained by electromiography and biopsy of orbicularis palpebrae muscle. Two forms of ophthalmoplegic dystrophy are analysed: 1 ocular myopathy and 2 oculopharyngeal miopathy. The latter is less frequent, occurring on patients in the fourth decade, in comparison with the pure ocular form affecting patients in the second decade. Besides this, the high familial incidence of the oculo-pharyngeal form is stressed. The reported case seems to be an intermediate form between them. The onset occurred at 11 years of age; there was no other case in the family, the disease involving swallowing, face, neck, trunk, shoulder, pelvic and members muscles.

Arquitetura comparativa dos pulmões de camundongos normais e afetados pela Distrofia Muscular de Duchenne

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Thais B. Lessa

2015-12-01

Full Text Available Resumo: A Distrofia Muscular de Duchenne (DMD é uma doença genética de caráter recessivo que caracterizada por fraqueza muscular progressiva de cintura pélvica e escapular evoluindo para insuficiência respiratória e, ou cardíaca. O camundongo mdx é um modelo amplamente utilizado para estudos da DMD. Apesar do fenótipo destes animais serem mais suave, estes apresentam o principal músculo respiratório, o diafragma com morfologia e bioquímica semelhante à DMD humana, fato este que pode comprometer a função respiratória e consequentemente os pulmões. Foi realizado um estudo anatômico descritivo do parênquima pulmonar dos pulmões de 5 animais modelo mdx comparando estes com os pulmões de 5 camundongos BALB/C57 (Mus musculus. Os pulmões foram analisados macroscopicamente e através de microscopia de luz e eletrônica de varredura. Os achados sugerem que o modelo mdx apresenta morfologia pulmonar semelhante aos camundongos BALB/C57 e que seu uso deve ser cauteloso e criterioso em ensaios clínicos que aborde este órgão.

Análisis de una nueva variante fenotípica de distrofia del estroma corneal

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Varela Conde, Yago

2016-01-01

Las distrofias corneales son un conjunto de enfermedades hereditarias de la córnea con base genética demostrable y sin afectación sistémica. Su nomenclatura y clasificación han sido revisadas recientemente, prescindiendo de ciertas patologías y agrupando las distrofias en nuevas categorías. Se ha hallado una variante fenotípica atípica con afectación del estroma corneal, por lo que sólo se han revisado las distrofias corneales localizadas a ese nivel (epiteliales-estromales y estromales). ...

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

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Lineu Cesar Werneck

1997-01-01

Full Text Available Uma proporção variável de pacientes com distrofia muscular congênita (DMC da forma clássica ou ocidental apresenta deficiência da cadeia α2 da merosina, uma proteína da matriz extracelular. Foi realizado estudo das características clínicas, laboratoriais e histopatológicas de 18 pacientes com DMC, relacionadas com o padrão de merosina encontrado na biópsia muscular. Estudo imuno-histoquímico demonstrou que 11 pacientes eram merosina-deficiente (MD e sete pacientes eram merosina-positiva (MP. Nenhum dos nove pacientes MD com idade suficiente para serem avaliados alcançaram a capacidade de deambulação, enquanto quatro dos sete pacientes MP atingiram deambulação sem auxílio. Os níveis de creatinoquinase estavam mais aumentados nos pacientes MD, mas a diferença entre os dois grupos não foi estatisticamente significativa. Estudo da condução nervosa motora foi realizado em 12 pacientes. Todos os quatro pacientes MP apresentaram exames normais, enquanto dois de oito pacientes MD apresentaram diminuição da velocidade de condução nervosa motora. Entre 69 parâmetros de biópsia muscular avaliados, não foi encontrada diferença estatisticamente significativa entre os grupos MP e MD. Esses resultados sugerem que a diferenciação entre os casos MP e MD serve para fins de prognóstico, pois os pacientes MP chegam a deambular. Além disso, este estudo indica que não existe relação entre a ausência de merosina e as alterações histológicas encontradas na biópsia muscular.Merosin α2 chain, an extracellular matrix protein, is deficient in a proportion of patients with classical congenital muscular dystrophy (CMD. A study of clinical, laboratory and histopathological features of 18 patients with CMD was performed in relation to the merosin expression in muscle biopsy. Immunohistochemistry study showed that merosin was deficient in 11 patients and present in 7. None of the 9 merosin-deficient patient: evaluated achieved

The importance of mdx mouse in the pathophysiology of Duchenne's muscular distrophy

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

1997-01-01

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

Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report Distrofia muscular de Emery-Dreifuss: correlação anátomo-clínica (relato de caso

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ALZIRA ALVES DE SIQUEIRA CARVALHO

2000-12-01

Full Text Available We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old . At age 26 he developed tachycardia episodes. A complex arrhythmia was discovered, and a nodal ablation was done with a cardiac pacemaker implanted. The patient had an arrhythmia and sudden death followed this. Emery-Dreifuss muscular dystrophy is a rare recessive X-linked muscular disorder where mixed patterns in electromyography and muscle histology (neurogenic and/or myopathic have caused nosological confusion. The autopsy findings are here described and correlated to the clinical features in an attempt to better understand the ambiguous findings concerning the process etiology .Relatamos o caso de um paciente com fraqueza muscular de distribuição úmero-peroneal associada a limitação de movimentos da coluna cervical e cotovelos. Aos 26 anos, ele desenvolveu episódios de taquicardia. Uma arritmia complexa foi descoberta sendo feito ablação nodal seguida por implante de marcapasso cardíaco. O paciente evoluiu com arritmia e morte. A distrofia de Emery-Dreifuss é desordem muscular rara, recessiva, ligada ao cromossomo X cujo aspectos mistos (neurogênico e/ou miopático na eletroneuromiografia e biopsia muscular tem provocado dúvidas na nosologia. Os achados de autopsia são descritos e correlacionados aos critérios clínicos na tentativa de melhor compreender os achados ambíguos em relação à etiologia.

Distrofia neuroaxonal infantil: relato de dois casos

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SCOLA ROSANA HERMINIA

1999-01-01

Full Text Available Descrevemos dois casos de distrofia neuroaxonal infantil ou doença de Seitelberger, que é doença rara, neurodegenerativa, com herança autossômica recessiva. O primeiro caso, sexo masculino, com 8 anos de idade, apresentava atraso do desenvolvimento psicomotor, ataxia e fraqueza muscular. Ao exame físico foi encontrado nistagmo horizontal e vertical com palidez do disco óptico, hipotonia e arreflexia profunda. O segundo caso, sexo masculino, com 1 ano e 6 meses de idade, apresentava atraso do desenvolvimento psicomotor e convulsões. No exame físico, apresentava atrofia de nervo óptico, hipertonia e hiperreflexia. A biópsia de nervo sural de ambos os pacientes mostrou aumento dos axônios, compatível com distrofia neuroaxonal. As características clínicas pleomórficas, bem como os achados neurofisiológicos variáveis tornam difícil firmar o diagnóstico, o qual é ajudado pela confirmação anatomopatológica dos esferóides neuroaxonais.

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

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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.

Análise das dosagens e concentrações séricas da ciclosporina A em cães da raça Golden Retriever normais ou afetados pela distrofia muscular

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Adriana Caroprezo Morini

2008-04-01

Full Text Available A distrofia muscular dos cães Golden Retriever (GRMD, uma miopatia degenerativa causada pela ausência da distrofina é geneticamente homóloga à distrofia muscular de Duchenne que acomete humanos, portanto, estes cães são considerados modelos experimentais para estudos em terapia celular. Seu sucesso depende da imunossupressão adequada. A ciclosporina A (CsA é indicada para tal e a monitorização de suas concentrações sangüíneas e efeitos adversos são essenciais para viabilizar a terapia. Foram estudados cães GRMD, e normais da mesma raça, submetidos a terapia com CsA, associada, nos GRMD, ao transplante de células tronco. Foram avaliados as concentrações sangüíneas do fármaco através de amostras coletadas a cada dois ou três dias e analisadas pelo método do imunoensaio por fluorescência (FPIA. Como resultado observamos que as concentrações de CsA oscilaram muito, em seis dos oito animais. Concluímos que as doses variam individualmente sendo de maior importância avaliar a concentração do fármaco no sangue e sua viabilização no uso da terapia celular.

Quantification of muscle strength and motor ability in patients with Duchenne muscular dystrophy on steroid therapy Quantificação da força muscular e habilidades motoras em pacientes com distrofia muscular de Duchenne em corticoterapia

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Samara Lamounier Santana Parreira

2007-06-01

Full Text Available OBJECTIVE: An assessment protocol was applied to quantify and describe muscular strength and motor abilities of 32 patients with Duchenne muscular dystrophy (DMD, aged between 5 and 12 years on steroid therapy. METHOD: Assessments were made monthly for the first six months and with intervals of two months thereafter until the 14-month end point. The tests employed included: the Medical Research Council (MRC scale; the Hammersmith motor ability score; maximum weight lift; timed rise from floor and nine-meter walk. RESULTS: The results showed that loss of muscular strength and motor abilities were slowed in comparison to that observed in the natural evolution of the disease according to the literature. CONCLUSION: We conclude that a swift and objective assessment may be performed using the MRC scale for lower limbs and trunk, the Hammersmith motor ability score, timed nine-meter walk and weight lifts.OBJETIVO: Um protocolo de avaliação foi aplicado com o objetivo de quantificar e descrever evolutivamente a força muscular e as habilidades motoras de 32 pacientes com distrofia muscular de Duchenne (DMD, com idades variando de 5 a 12 anos, em corticoterapia. MÉTODO: As avaliações foram aplicadas mensalmente durante os primeiros seis meses e bimensais até completar um período de 14 meses. Os testes empregados foram: escala da "Medical Research Council" (MRC; Hammersmith "motor ability score"; levantamento da carga máxima de peso; cronometragem do tempo para levantar-se do chão e percorrer nove metros. RESULTADOS: Os resultados demonstraram que a perda da força muscular e das habilidades motoras foi mais lenta do que a observada na evolução natural da doença, como descrito na literatura internacional. CONCLUSÃO: Concluímos que uma rápida e objetiva avaliação pode ser executada utilizando a escala MRC para membros inferiores e tronco, Hammersmith motor ability score, cronometragem do tempo para percorrer 9 metros.e o levantamento de

Distrofia corneal granular

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Alexeide de la C Castillo Pérez

Full Text Available Las distrofias corneales constituyen un conjunto de enfermedades que presentan, en su mayoría, una baja incidencia y se caracterizan por acúmulo de material hialino o amiloide que disminuyen la transparencia corneal. La distrofia granular es una enfermedad autosómica dominante que presenta opacidades grises en el estroma superficial central de la córnea y se hacen visibles en la primera y segunda décadas de la vida, lo que provoca disminución de la visión más significativa cerca de los 40 años de edad. Presentamos dos casos clínicos de distrofia granular en pacientes hermanos de diferentes sexos, quienes acudieron a la consulta y refirieron visión nublada. El estudio de la historia familiar nos ayuda en el correcto diagnóstico y la biomicroscopia constituye el elemento más importante.

Distrofia de la membrana basal epitelial

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Zaadia Pérez Parra

Full Text Available La distrofia de Cogan es la distrofia corneal anterior más común, frecuente en adultos del sexo femenino, entre 40-70 años de edad. Presentamos un caso de una paciente de 50 años de edad, del sexo femenino, quien refiere visión borrosa, lagrimeo y fotofobia. Al examen de la córnea en lámpara de hendidura se observan imágenes de color grisáceo en forma de huellas dactilares y de mapa. Esta afección es causada por alteraciones de la membrana basal epitelial que provoca la separación parcial o total del epitelio corneal. Generalmente asintomática, es la causa más frecuente de erosión corneal recurrente. Las opciones terapéuticas varían desde lubricantes, soluciones hipertónicas tópicas, lentes de contacto de vendaje, desbridamiento del epitelio central, micropunciones mecánicas o diatermia y fotoqueratectomía con láser excímer.

Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach Distrofias musculares de cinturas: uma abordagem diagnóstica imuno-histoquímica

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Enio Alberto Comerlato

2005-06-01

Full Text Available The limb-girdle muscle dystrophy (LGMD represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A group of 56 patients, 32 males and 24 females, with suggestive LGMD diagnosis were submitted to clinical evaluation, serum muscle enzymes, electromyography, muscle biopsy, and the immunoidentification (ID of sarcoglycans (SG alpha, beta, gamma and delta, dysferlin and western blot for calpain-3. All the patients had normal ID for dystrophin (rod domain, carboxyl and amine terminal. The alpha-SG was normal in 42 patients, beta-SG in 28, beta-SG in 45, delta-SG in 32, dysferlin in 37 and calpain-3 in 9. There was a reduction in the alpha-SG in 7 patients, beta-SG in 4, gamma-SG in 2, and delta-SG in 8. There was deficiency of alpha-SG in 7 patients, beta-SG in 6, gamma-SG in 9, delta-SG in 5, dysferlin in 8, and calpain-3 in 5. The patients were grouped according the ID as sarcoglycans deficiency 18 cases, dysferlin deficiency 8 cases and calpain-3 deficiency 5 cases. Only the sarcoglycans deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later than sarcoglycan and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and weaker muscular strength.As distrofias musculares de cinturas (DMC representam grupo heterogêneo de doenças musculares com heranças autossômicas dominante ou recessivas, caracterizadas geneticamente por mutações gênicas específicas. Cinqüenta e seis pacientes, 32 masculinos e 24 femininos, com diagnóstico sugestivo de DMC, foram submetidos a avaliação clínica, dosagem séricas das enzimas musculares, eletromiografia, biópsia muscular e imunoidentificação (ID das proteínas sarcoglicanas (SG alfa, beta, gama e delta, disferlina e calpaína-3. A ID da distrofina (domínio rod e terminais carboxila e amino era normal em todos

Contribuição para o diagóstico diferencial da distrofia muscular progressiva

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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

Paternidade: vivências de pais de meninos diagnosticados com distrofia muscular de Duchenne

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Silvana Aparecida de Lucca

Full Text Available Resumo Este trabalho teve como objetivo conhecer a vivência da paternidade em pais de filhos com diagnóstico de Distrofia Muscular de Duchenne (DMD. Participaram oito pais cujos filhos possuem diagnóstico confirmado de DMD, com idade acima dos dez anos e residentes em Ribeirão Preto e cidades circunvizinhas. Foram realizadas entrevistas com a utilização de um roteiro semiestruturado e os dados foram analisados com base na análise temática de conteúdo. Os resultados mostram que a notícia da confirmação do diagnóstico de DMD desencadeou uma reação de choque, coexistindo com sentimentos de tristeza, impotência e desesperança. A maioria dos pais considera a enfermidade do filho como missão enviada por Deus, desse modo diminuindo a dor e a angústia causadas pelo adoecimento. Os pais experimentam, desde a percepção dos sintomas da doença, inúmeras perdas que os expõem a grande sofrimento e deflagram o processo de luto antecipatório. Os pais atribuíram à paternidade o significado de missão a ser cumprida e o significado de “paternidade especial” influenciou positivamente na adaptação à doença. Conhecer e compreender como os pais vivenciam a paternidade na presença de uma doença crônica/deficiência é fundamental para programas de acompanhamento psicológico e assistência para os pais e toda a família.

Análise da expressão do colágeno VI na distrofia muscular congênita Analysis of the expression of collagen VI in congenital muscular dystrophy

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Regina Toni Loureiro de Freitas

2005-06-01

Full Text Available A distrofia muscular congênita (DMC compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas já no primeiro ano de vida. A forma de Ullrich é caracterizada por retrações musculares proximais e hiperextensibilidade distal. Cerca de 40% destes pacientes apresentam mutações em um dos genes que codificam as três sub-unidades do colágeno VI (COL6, acarretando deficiência total ou parcial na marcação da proteína. Analisamos, através de imunofluorescência, a marcação do COL6 em fragmentos musculares de 50 pacientes com DMC, 20 deles com ausência da marcação para merosina. Identificamos 4 casos com deficiência total da marcação do COL6 (8% do total, representando 13% dos casos com marcação normal para merosina. As alterações histológicas musculares dos pacientes com COL6 deficiente eram indistinguíveis das outras formas de DMC, porém mais brandas que as observadas na DMC com deficiência de merosina. Em três dos pacientes com COL6 deficiente observou-se hipotonia e fraqueza muscular, notadas já no período neonatal, atraso do desenvolvimento motor, retrações musculares em joelhos e cotovelos, hiperextensibilidade distal e luxação congênita do quadril (dois pacientes. Um paciente perdeu a capacidade para a marcha, e outro faleceu por problemas respiratórios. A análise da marcação do COL6, assim como da merosina, no tecido muscular de pacientes com DMC pode auxiliar na identificação e caracterização fenotípica dos diversos subtipos de DMC.Congenital muscular dystrophy (CMD composes a group of disorders characterized by hypotonia and muscular weakness noticed in the first year of life. The Ullrich's form is characterized by proximal joint contractures and distal hiperextensibility. About 40% of these patients present mutations in one of the genes that codify the sub-units of the collagen VI protein (COL6, producing total or partial deficiency of the protein expression. We analyzed

Perfil comportamental e competência social de crianças e adolescentes com distrofia muscular de Duchenne Behavior profile and social competence in children and adolescents with Duchenne muscular dystrophy

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Elaine Cristina Zachi

2012-04-01

Full Text Available A distrofia muscular de Duchenne é uma doença genética caracterizada por enfraquecimento muscular progressivo e degeneração irreversível, acompanhados por danos sensoriais e neuropsicológicos. Os objetivos do estudo consistiram em avaliar o perfil comportamental de crianças/adolescentes com DMD e a influência do prejuízo motor, da idade no início do uso de cadeira de rodas e da idade no diagnóstico. Participaram 34 pacientes e 20 controles. Os pacientes formaram dois grupos conforme o quociente de inteligência (QI. Os pais responderam ao Inventário de Comportamentos da Infância e da Adolescência. Pacientes com DMD obtiveram escores mais baixos em Atividades e Sociabilidade (p Duchenne Muscular Dystrophy is a genetic disease characterized by progressive muscle weakness and degeneration, which are accompanied by sensory and neuropsychological losses. The aims of this study were to evaluate the behavior profile of DMD children and adolescents and examine the influence of motor impairment, age at start using a wheelchair, and age at diagnosis on behavioral characteristics. Thirty-five patients and 20 controls participated. DMD patients formed two different groups according to the intelligence quotient (IQ. Participants' parents completed the Child Behavior Checklist. DMD groups scored lower on the Activities and the Social scales. Patients with QI < 80 presented lower indices in the School scale (p < 0.01, ANCOVA. Motor impairment and age at start using a wheelchair and at diagnosis correlated with psychiatric/somatic symptoms and school problems. The findings highlight the need of educational programs concerning the disease as a basis for the development of social inclusion strategies.

La complejidad de las distrofias hereditarias de la retina: un obstáculo y un reto

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Martín Nieto, José

2014-01-01

ACTO conjunto de FARPE-FUNDALUCE con la SEBBM en el marco de su XXXVII Congreso. Conferencia: La complejidad de las distrofias hereditarias de la retina: Un obstáculo y un reto (José Martín Nieto).

Força muscular respiratória e perfil postural e nutricional em crianças com doenças neuromusculares

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Jaqueline Fernandes Pontes

Full Text Available INTRODUÇÃO: As doenças neuromusculares infantis são crônicas, degenerativas e determinam alterações funcionais, musculares e nutricionais. OBJETIVOS: Avaliar sistematicamente a força muscular respiratória e o perfil postural e nutricional de crianças com doenças neuromusculares em seguimento multidisciplinar institucional. MATERIAIS E MÉTODOS: Foram estudados pacientes com diferentes doenças neuromusculares por meio da verificação da força muscular respiratória, da avaliação nutricional de massa muscular, do índice de massa corpórea e da porcentagem (% de gordura corporal, além de avaliação postural e dos padrões de movimento. RESULTADOS: Foram avaliados 41 sujeitos. As crianças do sexo masculino predominaram na população em estudo, sendo 82,9% dela (n = 34, e os outros 17,1% (n = 7 eram do sexo feminino. A média de idade encontrada foi de 9,65 ± 3,11 anos. O principal diagnóstico encontrado foi Distrofia Muscular de Duchenne, 43,9% (n = 18, seguido de Atrofia Muscular Espinhal, 9,75% (n = 4, Distrofia Congênita, 7,31% (n = 3, Distrofia Muscular de Cinturas, Polineuropatia e Miopatia Congênita, todos com 4,9% (n = 2, além de Distrofia Muscular Progressiva, Miastenia Grávis, Charcoot Marie Toot, Emery Dreifuss, encontrados em 2,43% (n = 1. Foi verificada uma diminuição da força muscular respiratória (PImáx = 81 ± 24,3 cmH2O, 91% predito e PEmáx = 70 ± 29,6 cmH2O, 72% predito, mais evidente nos músculos expiratórios. A Hiperlordose lombar foi encontrada em 26 pacientes (64% e 9 pacientes (22% já haviam perdido a capacidade de deambular. Em relação ao perfil nutricional, 90% dos pacientes (n = 30 mostraram uma alta incidência de perda de reserva muscular e 52% deles (n = 13 apresentaram a porcentagem de gordura corporal abaixo do aceitável. CONCLUSÃO: A avaliação multidisciplinar das doenças neuromusculares pediátricas podem auxiliar no estabelecimento de tratamento precoce da Fisioterapia para

Estudo morfofuncional dos rins de cães da raça Golden Retriever afetados pela distrofia muscular (GRMD

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Dilayla K. Abreu

2012-10-01

Full Text Available A Distrofia Muscular de Duchenne (DMD é uma miopatia severa de caráter recessivo ligada ao cromossomo X e o modelo animal de estudo mais relevante é o Golden Retriever Muscular Dystrophy (GRMD. Além das severas alterações que ocorrem na musculatura estriada, muitos estudos mostram que outras estruturas, inclusive viscerais, podem se mostrar alteradas nesta patologia. Desta forma, este trabalho objetivou análisar e comparar possíveis alterações estruturais e funcionais do rim em cães GRMD. Neste modelo de estudo, foi possível observar a presença das faces convexa e côncava, do hilo renal e dos pólos craniais e caudais dos rins. O órgão mostrou-se envolto por uma cápsula fibrosa. Em um corte sagital do órgão, notou-se a presença das regiões cortical e medular e da pelve renal. Na análise microscópica foi possível identificar a zona medular e cortical com suas estruturas: os corpúsculos renais formados pelo glomérulo e pela cápsula de Bowman, os túbulos contorcidos proximais e distais, os ductos coletores, vasos sanguíneos e os segmentos das Alças de Henle. As dosagens séricas de creatinina e uréia encontram-se dentro dos limites de normalidade. Desta forma, de acordo com os nossos resultados, podemos concluir que os animais afetados estudados, não apresentaram alterações estruturais ou funcionais dos rins, o que nos permitir sugerir que apesar da ingestão hídrica comprometida, a estrutura renal, mantem- se preservada nos animais GRMD.

Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial

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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.

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives Distrofia muscular congênita. Parte II: revisão da patogênese e perspectivas terapêuticas

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Umbertina Conti Reed

2009-06-01

Full Text Available The congenital muscular dystrophies (CMDs are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem, CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscle-eye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D, and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex.As distrofias musculares congênitas (DMCs são miopatias hereditárias geralmente, porém não exclusivamente, de herança autossômica recessiva, que apresentam grande heterogeneidade genética e clínica. São caracterizadas por hipotonia muscular congênita, atraso do desenvolvimento motor e fraqueza muscular de início precoce associada a padrão distrófico na biópsia muscular. O quadro clínico, de gravidade variável, pode também incluir anormalidades oculares e do sistema nervoso central. A partir de 1994, os conhecimentos sobre genética e biologia molecular das DMCs progrediram rapidamente, sendo a classificação continuamente atualizada. Os aspectos clínicos e diagnósticos dos principais subtipos de DMC

Avaliação da função motora em crianças com distrofia muscular congênita com deficiência da merosina Motor function evaluation in merosin-deficient congenital muscular dystrophy children

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Fernanda M. Rocco

2005-06-01

Full Text Available A distrofia muscular congênita (DMC compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas até o primeiro ano de vida. Em torno de 40% a 50% dos casos são decorrentes de deficiência primária da proteína merosina (DM, os quais apresentam um fenótipo mais homogêneo, com grave comprometimento motor e respiratório. Foram avaliadas neste estudo onze crianças com diagnóstico clínico e histológico de DMC-DM, com idade de 3 a 15 anos, através de exame de força muscular ("Medical Research Council", análise goniométrica, avaliação das habilidades motoras e das atividades de vida diária (AVDs (indicador de Barthel, com o objetivo de caracterizar as principais limitações funcionais motoras. Os grupos musculares mais comprometidos foram os flexores cervicais, paravertebrais e proximais dos membros. Os grupos musculares dos membros superiores estavam tão comprometidos quanto os dos membros inferiores, enquanto que os extensores encontravam-se mais comprometidos que os flexores. Todas as crianças apresentavam importantes retrações musculares nos quadris, joelhos e cotovelos. Outras deformidades freqüentes foram escoliose e pés eqüino-varo. Nenhuma criança possuía a habilidade motora necessária para engatinhar, ficar de pé ou andar; e todas foram classificadas como dependentes ou semidependentes para a maioria das AVDs estudadas. Nossos achados confirmam o envolvimento difuso e intenso da musculatura esquelética na DMC-DM, acarretando graves limitações funcionais motoras e deformidades músculo-esqueléticas.Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD, and present a homogenous phenotype with a severe motor and respiratory involvement. Eleven children with clinical and histological diagnosis of CMD-MD, aged of 3 to 15 years

Distrofia simpático-reflexa

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Lotito Ana P. N.

2004-01-01

Full Text Available OBJETIVO: Descrever as características clínicas, laboratoriais e terapêuticas de oito crianças com distrofia simpático-reflexa. DESCRIÇÃO: Foram analisados retrospectivamente oito casos de distrofia simpático-reflexa. O diagnóstico foi baseado na presença de dor no segmento distal de um membro, edema local, alterações vasomotoras e de sensibilidade. Dentre os oito pacientes com distrofia simpático-reflexa, dois eram portadores de lúpus eritematoso sistêmico, um de artrite idiopática juvenil e um de trombastenia de Glanzmann. Quatro eram meninas, e a média de idade foi de 11,5 anos. Os membros inferiores foram acometidos na maioria dos pacientes (7/8, e as características clínicas mais marcantes foram dor, edema e alterações vasomotoras da extremidade afetada (7/8, incapacitação funcional (7/8 e alterações de sensibilidade (3/8. A velocidade de hemossedimentação esteve alterada em três pacientes, e a cintilografia músculo-esquelética em cinco. Todos os pacientes receberam antiinflamatórios não-hormonais e fisioterapia, com melhora clínica observada em sete pacientes em até 6 meses de tratamento. Três pacientes foram submetidos à acupuntura, com boa resposta. Um paciente teve curso de difícil controle, tendo recebido antidepressivos tricíclicos e apresentando melhora após mais de 1 ano de tratamento. COMENTÁRIOS: A distrofia simpático-reflexa é uma doença que deve ser incluída no diagnóstico diferencial das dores em membros na infância, para que se estabeleça o diagnóstico precocemente, evitando-se, assim, prejuízo funcional a médio e longo prazo.

Distrofia policromática posterior da córnea

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Letícia Maria Coelho

2015-06-01

Full Text Available Os autores descrevem dois casos de distrofia policromática posterior da córnea, uma distrofia pré-Descemet, pouco descrita nas literaturas nacional e mundial, em que se observam pontos policromáticos difusos no estroma posterior da córnea, sem aparente comprometimento da visão.

Estudio bibliométrico de biomarcadores de estrés crónico en saliva, en pacientes con distrofia de la retina, fundamentalmente retinitis pigmentosa

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Gálvez García, Andrés

2017-01-01

Hay indicios de que el estado anímico es un factor que afecta a la evolución de patologías orgánicas, una categoría que se aplica también a las distrofias de la retina como la Retinosis Pigmentaria (RP). Desde hace algunos años, diversos estudios han intentado determinar la relación del estrés crónico con la RP y la capacidad visual de los enfermos, y han tratado de establecer qué tipo de medidas de estrés pueden ser más apropiadas para este fin. Al mismo tiempo, para evitar un...

Distrofia muscular nutricional em ovinos na Paraíba Nutritional muscular dystrophy in sheep in Paraíba

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Sara Lucena Amorim

2005-06-01

Full Text Available Descreve-se um surto de distrofia muscular nutricional em ovinos no semi-árido Nordestino. Foram afetados animais de 3-4 meses de idade, da raça Dorper, pesando 30-40 kg. Os animais eram alimentados, à vontade, com leite, ração balanceada, capim Tifton e sal mineral. Dos 70 animais Dorper, 6 adoeceram e morreram em um período de 48 horas. Apresentaram temperatura, entre 40 e 41ºC, incoordenação com posterior paralisia e decúbito, depressão, prostração e diminuição dos reflexos pupilar e de ameaça, flacidez da língua e mandíbula, salivação, edema submandibular, dispnéia e aumento da freqüência cardíaca. A morte ocorreu após curso clínico de 6- 12 horas. Na necropsia de 3 animais, os músculos esqueléticos estavam de coloração pálida, o fígado estava aumentado de volume e de coloração amarelada, os gânglios parotídeos, submandibulares, retrofaríngeos, prescapulares e mediastínicos estavam aumentados de volume e avermelhados e os pulmões apresentavam áreas vermelhas. Na histologia havia necrose segmentar de todos os músculos examinados e congestão dos gânglios linfáticos e pulmão. Posteriormente mais três animais adoeceram, sendo tratado com oxitetraciclina e complexo vitamínico A,D e E. Desses 3 animais, 2 morreram e um sobreviveu. Na mesma fazenda havia e não adoeceram 20 ovinos da raça Santa Inês, da mesma idade que os animais afetados, que recebiam a mesma alimentação exceto o leite, e 900 ovinos de outras idades. A superalimentação em animais com rápido crescimento e o estresse causado pela restrição de água durantes 2 dias, para aumentar o consumo de leite, parecem ter sido fatores predisponentes para a ocorrência da doença. É possível, também, que algum dos minerais suplementados tenha antagonizado o Se presente na alimentação.An outbreak of nutritional muscular dystrophy is reported in the semiarid region of northeastern Brazil affecting 3-4 months old Dorper sheep. The animals

Diagnóstico de distrofia muscular de Duchenne mediante análisis del ácido desoxinucleotico y su aplicación en la prevención

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Mayra Rodríguez Hernández

1996-04-01

Full Text Available Se define una estrategia para la prevención en Cuba de la distrofia muscular de Duchenne (DMD, una de las enfermedades hereditarias letales más frecuentes, y se evalúan la factibilidad de su aplicación y los problemas que pudieran dificultar su implantación al nivel nacional. La estrategia se basa fundamentalmente en la necesidad de detectar las familias afectadas, la definición de las mujeres portadoras o en riesgo de serlo y el estudio molecular de los miembros de interés con anterioridad al ofrecimiento de los servicios de diagnóstico prenatal mediante análisis directo -detección de deleciones en el gen DMD mediante reacción en cadena de la polimerasa (PCR o análisis indirecto- empleo de los marcadores denominados polimorfismos en la longitud de los fragmentos de restricción (RFLPs en análisis de ligamento. Se concluye en que la aplicación de esta estrategia es factible y conveniente, pues permite ofrecer el diagnóstico prenatal al 75 % de las mujeres portadoras. Su eficiencia en la prevención del nacimiento de nuevos enfermos DMD se demuestra en 2 diagnósticos prenatales realizados, uno de los cuales detectó un embarazo afectado que fue interrumpido por solicitud de los padres.A strategy is defined for the prevention in Cuba of the Duchenne's muscular dystrophy (DMD, one of the most frequent lethal hereditary diseases, and the feasibility of its application, and the troubles that might difficult its implantation at a national level, are evaluated. This strategy is mainly based on the need of detecting the affected families, the definition of the carrier women, or the women at risk of being carriers, and the molecular study of the members of interest with anteriority to the offering of prenatal diagnosis services by direct analysis -detection of DMD gen deletions by (PCR polymerase chain reaction, or indirect analysis-, use of the markers called polymorphisms in the length of the restriction fragments (RFLPs in ligament

Distrofia de Reis-Bücklers: Presentación de una familia

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Daisy Flores Pérez

2003-09-01

Full Text Available Se presentan los resultados de un estudio realizado en 12 pacientes integrantes de una familia de la raza blanca. Se diagnosticaron 5 con distrofia de Reis-Bücklers. El defecto refractivo que predominó fue el astigmatismo. Se obtuvo un patrón de herencia autosómico dominante en la familia en estudio.The results of the study performed in 12 patients from a Caucasian family are presented. Five were diagnosed with Reis-BücKler dystrophy. The predominant refractory defect was astigmatism. A dominant autosomal hereditary pattern was obtained in the studied family.

Distrofia policromática posterior da córnea

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Coelho, Letícia Maria; Muinhos, Guilherme Kfoury; Tanure, Marco Antônio Guarino; Almeida, Homero Gusmão de; Sieiro, Reinaldo de Oliveira

2015-01-01

Os autores descrevem dois casos de distrofia policromática posterior da córnea, uma distrofia pré-Descemet, pouco descrita nas literaturas nacional e mundial, em que se observam pontos policromáticos difusos no estroma posterior da córnea, sem aparente comprometimento da visão. The authors describe two cases of posterior polychromatic corneal dystrophy, a pre-Descemet dystrophy, poorly described in national and world literatures, characterized by diffuse polychromatic points on the posteri...

Detección de alteraciones numéricas en el gen dys y su asociación con rasgos clínicos Numeric alterations in the dys gene and their association with clinical features

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Alejandra Mampel; María Inés Echeverría; Ana Lía Vargas; María Roque

2011-01-01

La distrofia muscular de Duchenne/Becker (DMD/B) es una miopatía hereditaria grave y progresiva. Se relaciona con alteraciones en el gen DYS, ubicado en el cromosoma X, que codifica para la proteína distrofina. Distintas manifestaciones pueden observarse según el impacto de la alteración genética sobre la proteína. Los registros internacionales de mutaciones refieren una elevada frecuencia (65-70%) de deleciones/duplicaciones de uno o más exones del gen DYS. En este trabajo presentamos el est...

Respuestas y adaptaciones de la funci??n y estructura musculares al entrenamiento oclusivo con resistencias de baja intensidad

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Mart??n Hern??ndez, Juan

2013-01-01

137 p. Los objetivos de esta tesis doctoral, que se presenta como compendio de publicaciones, fueron: (1) Estudiar las respuestas de la arquitectura muscular a una sola sesi??n de entrenamiento oclusivo y comparar ??stas con las observadas tras una sesi??n de entrenamiento tradicional con resistencias de alta intensidad; (2) Estudiar las adaptaciones de la fuerza din??mica y el grosor muscular a dos vol??menes diferentes de entrenamiento oclusivo; (3) Comparar estos resultados con los obte...

Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects Distrofia muscular congênita. Parte I: revisão dos aspectos fenotípicos e diagnósticos

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Umbertina Conti Reed

2009-03-01

Full Text Available The congenital muscular dystrophies (CMDs are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. We initially present the main clinical and diagnostic data concerning the CMDs related to changes in the complex dystrophin-associated glycoproteins-extracellular matrix: CMD with merosin deficiency (CMD1A, collagen VI related CMDs (Ullrich CMD and Bethlem myopathy, CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscle-eye-brain disease, Walker-Warburg syndrome, CMD1C, CMD1D, and the much rarer CMD with integrin deficiency. Finally, we present other forms of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex (rigid spine syndrome, CMD1B, CMD with lamin A/C deficiency, and some apparently specific clinical forms not yet associated with a known molecular mechanism. The second part of this review concerning the pathogenesis and therapeutic perspectives of the different subtypes of CMD will be described in a next number.As distrofias musculares congênitas (DMCs são miopatias hereditárias geralmente, porém não exclusivamente, de herança autossômica recessiva, que apresentam grande heterogeneidade genética e clínica. São caracterizadas por hipotonia muscular congênita, atraso do desenvolvimento motor e fraqueza muscular de início precoce associada a padrão distrófico na biópsia muscular. O quadro clínico, de gravidade variável, pode também incluir anormalidades oculares e do sistema nervoso central. A

Distrofia corneana policromática posterior Polychromatic posterior corneal dystrophy

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Patrick Frensel de Moraes Tzelikis; Ulisses Roberto dos Santos; Marco Antônio Guarino Tanure; Fernando Cançado Trindade

2007-01-01

Os autores descrevem quatro raros casos de distrofia corneana policromática posterior, ainda não descrito na literatura nacional. Observam-se opacidades puntiformes, policromáticas, de tamanho uniforme, localização estromal profunda, distribuídas de limbo a limbo e que não interferem na acuidade visual. É apresentada uma revisão dos casos de distrofia pré-Descemet existentes na literatura.The authors describe four rare cases of polychromatic posterior corneal dystrophy, not describe in nation...

Força muscular respiratória e qualidade de vida em pacientes com distrofia miotónica

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T. Lucena Araújo

2010-11-01

Full Text Available Resumo: Introdução: Na distrofia miotónica (DM estudos sobre qualidade de vida relacionada à saúde (QVRS ainda são escassos e a sua relação com a força muscular respiratória não foi determinada. Este estudo teve como objetivo a avaliação da força muscular respiratória e da QVRS, além de determinar as relações entre estas variáveis na DM. Métodos: Foi avaliada a função pulmonar, as pressões respiratórias máximas inspiratórias e expiratórias (PImáx e PEmáx, respectivamente, pressão nasal inspiratória de sniff (SNIP, e a QVRS através do questionário genérico SF-36 em 23 pacientes (13 homens, idade 40 ± 16 anos com DM. Resultados: Os valores encontrados da força muscular respiratória foram de 71 ± 20 cmH2O (64 % preditivo, 76 ± 32 cmH2O (70 % preditivo, e 79 ± 28 cmH2O (80 % preditivo para PEmax, PImax e SNIP respectivamente. Encontramos diferenças significativas nos domínios de SF-36 de função física 58,7 ± 31,4 vs. 84,5 ± 23 (p < 0,01, 95 % CI = 1,6-39,9 e problemas físicos 43,4 ± 35,2 vs. 81,2 ± 34 (p < 0,001, 95 % CI = 19,4-6,1 comparado com os valores de referência. A análise de regressão linear demonstrou que a PImax explica 29 % da variação da função física, 18 % dos problemas físicos e 20 % da vitalidade. Conclusão: Indivíduos com DM têm uma redução da força muscular expiratória. A QVRS pode ser mais prejudicada em alguns domínios da atividade física, o que pode sofrer influência das variações da força muscular inspiratória. Abstract: Introduction: Studies on quality of life in myotonic dystrophy (MD are scarce and the relationship between respiratory muscle strength and health-related quality of life (HRQoL has yet to be determined. The present study aims to investigate respiratory muscle strength and HRQoL and their relationship in MD patients. Methods: Twenty-three patients (13 men, aged 40 ± 16 years with MD were evaluated for pulmonary function, maximal

Masa muscular, fuerza isométrica y dinámica en las extremidades inferiores de niños y adolescentes con síndrome de Down

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González-Agüero, A.; Villarroya, M.A.; Vicente-Rodríguez, G.; Casajús, J.A.

2009-01-01

En general se ha observado que las personas con síndrome de Down (SD) tienen valores inferiores de fuerza muscular comparados con personas sin SD. También existe un déficit de masa muscular en los adultos con SD comparados con otros sin SD. Sin embargo, ningún estudio hasta la fecha había evaluado esta masa muscular en población pediátrica. Nuestro estudio pretende poner de manifiesto si también a edades tempranas existe un déficit de masa muscular y además relacionar ambos valores. Los niños...

Corneal stromal dystrophies: a clinical pathologic study Distrofia corneana estromal: um estudo clínicopatológico

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Elvira Barbosa Abreu

2012-12-01

corneal dystrophies is critical to establish the correct diagnosis.INTRODUÇÃO: A distrofia corneana é definida como doença primária da córnea, bilateral e simétrica, sem associação com inflamação ocular prévia. Distrofias corneanas são classificados de acordo com a camada corneana envolvida em distrofia superficial, estromal e posterior. A incidência de cada distrofia varia de acordo com a região geográfica estudada. OBJETIVO: Avaliar a prevalência de distrofias corneanas estromal em botões corneanos de espécimes obtidos por ceratoplastia penetrante (CP, oriundos do arquivo de um laboratório de patologia ocular e correlacionar o diagnóstico com a idade e o sexo dos pacientes. MÉTODOS: Os botões corneanos oriundos de ceratoplastia penetrante recebidos entre janeiro de 1996 e maio de 2009 foram selecionados dos arquivos do Henry C. Witelson Ocular Pathology and Registry Laboratory, em Montreal, Canadá. Os casos com diagnóstico histopatológico de distrofias corneanas estromal foram corados com colorações especiais ("Peroxid acid Schiff", tricrômico de Masson, vermelho Congo analisadas sob luz polarizada, e "alcian blue" para a classificação e foram correlacionados com dados epidemiológicos (idade na época da ceratoplastia penetrante e sexo dos pacientes. RESULTADOS: 1.300 casos de botões corneanos com diagnóstico clínico de distrofia corneana foram recuperados. Distrofia corneana estromal foi encontrada em 40 (3,1% dos casos. Distrofia corneana lattice foi a mais prevalente com 26 casos (65%. Dezenove eram do sexo feminino (73,07% e CP foi realizada em média com 59,3 anos de idade. Distrofia corneana combinada foi encontrada em 8 (20% casos, 5 (62,5% eram do sexo feminino e a idade média da CP foi de 54,8 anos. Distrofia corneana granular foi encontrada em 5 (12,5% casos, e 2 (40% deles eram do sexo feminino. A ceratoplastia penetrante foi realizada na média de idade de 39,5 anos, em casos de distrofia corneana granular. A distrofia

Distrofia corneana amorfa posterior: relato de caso Posterior amorphous corneal dystrophy: case report

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Lauro Augusto de Oliveira

2006-12-01

Full Text Available O objetivo deste trabalho é alertar o oftalmologista da possibilidade de se deparar com casos raros de distrofias corneanas. Neste caso correlacionamos os achados clínicos da distrofia amorfa posterior com refração, topografia e biomicroscopia ultra-sônica.The purpose of this paper is to warn the ophthalmologist about the possibility of facing rare cases of corneal dystrophies. Clinical findings of a case of posterior amorphous dystrophy were correlated with refraction, topography, and ultrasound biomicroscopy.

Fuerza muscular máxima en atletas con discapacidad intelectual

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Morales Salas, Carlos; Lavaut Sánchez, Kalia; Lam, Rosa

2009-01-01

La actividad deportiva requiere la ejecución de movimientos armónicos y bien estructurados, en los que el desarrollo y la maduración del sistema nervioso central y el sistema musculoesquelético desempeñan un papel fundamental. Los atletas con un grado de discapacidad intelectual que no les impide la realización de actividades deportivas, a pesar de ser muy competitivos, tienen rendimientos influidos por el grado de daño neurológico y por su repercusión en la actividad muscular. Se estudiaron ...

Distrofia corneana policromática posterior Polychromatic posterior corneal dystrophy

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Patrick Frensel de Moraes Tzelikis

2007-08-01

Full Text Available Os autores descrevem quatro raros casos de distrofia corneana policromática posterior, ainda não descrito na literatura nacional. Observam-se opacidades puntiformes, policromáticas, de tamanho uniforme, localização estromal profunda, distribuídas de limbo a limbo e que não interferem na acuidade visual. É apresentada uma revisão dos casos de distrofia pré-Descemet existentes na literatura.The authors describe four rare cases of polychromatic posterior corneal dystrophy, not describe in national literature. The opacities are deep in the stroma, dotlike, polychromatic, uniform in size, distributed from limbus to limbus, leading no reduction in visual acuity. It is also presented a bibliographic review of pre-Descemet's dystrophy.

Entrenamiento con restricción del flujo sanguíneo e hipertrofia muscular. [Blood flow restriction training and muscle hypertrophy].

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Carlos Reina-Ramos; Raúl Domínguez

2014-01-01

El entrenamiento de fuerza orientado a aumentar la masa muscular se ha convertido en un objetivo común en programas de entrenamiento tanto en deportistas de alto rendimiento como en personas que realizan programas de actividad física con objetivo de mejorar su salud o calidad de vida. Generalmente, el trabajo de fuerza orientado hacia la hipertrofia muscular se ha asociado con la utilización de altas cargas de trabajo (70-85% de 1 RM). Actualmente, se ha propuesto que el entrenamiento de fuer...

Entrenamiento con restricción del flujo sanguíneo e hipertrofia muscular. [Blood flow restriction training and muscle hypertrophy].

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Carlos Reina-Ramos

2014-10-01

Full Text Available El entrenamiento de fuerza orientado a aumentar la masa muscular se ha convertido en un objetivo común en programas de entrenamiento tanto en deportistas de alto rendimiento como en personas que realizan programas de actividad física con objetivo de mejorar su salud o calidad de vida. Generalmente, el trabajo de fuerza orientado hacia la hipertrofia muscular se ha asociado con la utilización de altas cargas de trabajo (70-85% de 1 RM. Actualmente, se ha propuesto que el entrenamiento de fuerza con cargas de tan solo el 20% de 1 RM realizadas en condiciones de restricción del flujo sanguíneo podría provocar incrementos en los niveles de fuerza y masa muscular similares a los observados al ejercitarse con cargas altas. Dado que ciertos colectivos podrían beneficiarse del empleo de bajas cargas en sus programas de entrenamiento orientados a incrementar la masa muscular, el objetivo del presente trabajo de revisión bibliográfica ha sido el de revisar en la literatura las evidencias que existen en torno a la efectividad del entrenamiento con restricción del flujo sanguíneo a la hora de provocar hipertrofia muscular. Abstract Strength training focuses on increasing muscle mass has become in a frequent target in training programs in both elite athletes and people performing physical activity programs to improve their health or quality of life. Generally, the resistance training oriented muscle hypertrophy has been associated with the use of high workloads (70-85% of 1RM. Currently, it has been proposed that the resistance training with loads of only 20% 1RM under conditions of restricted blood flow can induce increases in strength levels similar to resistance training with high intensities. Because certain groups could benefit from the use of low loads in their strength training programs designed to increase muscle mass, the objective of the present study was to review the literature on the existing evidence about the effectiveness of blood

Distrofias retinianas da infância: análise retrospectiva Retinal dystrophies in childhood: retrospective analysis

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Heloisa Andrade Maestrini

2004-12-01

Full Text Available OBJETIVOS: Descrever o quadro clínico e os resultados dos exames complementares dos pacientes portadores das seguintes distrofias retinianas: amaurose congênita de Leber (ACL, acromatopsia, distrofia de cones e distrofia mista, atendidos no Serviço de Visão Subnormal do Hospital São Geraldo da UFMG, no período de 1992 a 2003. MÉTODOS: Análise retrospectiva dos prontuários de 40 pacientes, sendo 10 portadores de ACL, 17 com acromatopsia, 6 com distrofia de cones e 7 com distrofia mista. RESULTADOS: A acuidade visual foi extremamente baixa na ACL, variando de 20/710 a percepção luminosa. Situou-se em torno de 20/200 na acromatopsia, 20/280 na distrofia de cones e 20/260 na mista. A alta hipermetropia foi o erro refracional mais comum na ACL, ao passo que a hipermetropia predominou na acromatopsia e na distrofia de cones e a miopia na mista. A fundoscopia mostrou-se alterada na maioria dos casos de ACL, distrofia de cones e distrofia mista e normal na maioria dos acromatas. A compressão óculo-digital e o enoftalmo foram exclusivos da ACL, ao passo que a fotofobia e a dificuldade na discriminação de cores predominaram nos outros grupos. O nistagmo e o estrabismo foram freqüentes em todos eles. O atraso no desenvolvimento neuro-psico-motor foi muito freqüente no grupo da ACL e quase ausente nos demais. A ACL apareceu associada a síndromes genéticas em 2 casos. Os sintomas da ACL e da acromatopsia se manifestaram ao nascimento ou no 1º ano de vida, ao passo que na distrofia de cones e na mista surgiram também em idades mais avançadas, porém não depois dos 10 anos. A consangüinidade e a história familiar positiva foram altamente prevalentes em todos os grupos. O ERG mostrou ausência de resposta na ACL, redução da resposta fotópica na acromatopsia e na distrofia de cones e redução difusa na mista. Os testes de visão de cores mostraram alterações principalmente na acromatopsia e na distrofia de cones. CONCLUSÕES: As

Detección de la expansión del triplete (CTGn, en personas sanas y en familias afectadas por Distrofia Miotónica

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Y. Gómez

2001-07-01

Full Text Available La Distrofia Miotónica (DM es una enfermedad de herencia autosómica dominante causada por la expansión inestable de un triplete (CTGn en la región 3' no traducida (3'UTR, del gen de la miotonin protein kinasa (MPK que mapea en 19q13.3. Es un desorden multisistémico, caracterizado por miotonía, debilidad muscular, cataratas, defectos en la conducción cardiaca, retardo mental y atrofia testicular. La forma más común es la del adulto, cuya incidencia es de 1 en 8.000, de expresión es variable, anticipación e impronta genética y cuya prevención es difícil porque al inicio de los síntomas, se tiene descendencia en la mayoría de los casos. El triplete (CTGn presenta de 5 a 30 repeticiones en la población normal, los afectados presentan más de 50 repeticiones y la severidad de la DM se correlaciona con el número de tripletas presentes. Se diseñó un protocolo para el análisis de hasta 100 repeticiones CTG, basado en PCR, para realizar el tamizaje para detectar los alelos normales en la población y pequeñas expansiones en individuos afectados por DM.

A distrofia miotônica ou miotonia atrófica: estudo sintético-crítico

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Enzo Azzi

1953-03-01

Full Text Available O autor, baseado em algumas observações clínicas pessoais, individualiza os elementos principais (atróficos, miotônicos, neurendócrino-vegetativos que se referem à distrofia miotônica, insistindo sôbre a riqueza dos sintomas infundíbulo-hipofisários observados (distrofia adiposogenital, policitemia, perturbações do sono, constante hipoplasia da sela turca que falam em favor de uma meiopragia diencéfalo-hipofisária como mecanismo fisiopatogênico da doença. O autor discute também o problema das relações entre distrofia miotônica e miotonia de Thomsen, concluindo, com base em um de seus casos, pela identidade fundamental das duas formas e, portanto, pela sua unificação.

Distrofia neuroaxonal infantil: diagnóstico em vida por biopsia conjuntival

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S. Rosemberg

1985-03-01

Full Text Available São relatados três casos de distrofia neuroaxonal infantil cujo diagnóstico foi feito mediante o estudo ultrastrutural de biópsia da conjuntiva. Nesta, algumas fibras nervosas amielínicas e, mais raramente, as mielínicas, mostravam, no axoplasma, agregados densos membrano-tubulares, idênticos aos dos esferóides ocorrentes no SNC nesta doença. O achado destas estruturas é o único meio diagnóstico em vida. A biópsia da conjuntiva, pela facilidade de sua execução e por sua inocuidade, é o procedimento preferido para este estudo. Clinicamente, a enorme hipotonia aliada a sinais piramidais, a ausência de crises convulsivas, a atrofia cerebelar visível à tomografia e o modo evolutivo, sugerem fortemente o diagnóstico de distrofia neuroaxonal infantil.

Aplicativo software para rehabilitación en pacientes con afecciones motoras de la mano

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Díaz Suárez, Ricardo Andrés; Puello Villamizar, Bárbara Milena; Santamaría Sánchez, Edwin; Van-Strahlen Peña, Francy Juliana

2016-01-01

Existen enfermedades como la parálisis cerebral, la distrofia muscular, el síndrome del túnel del Carpio o los accidentes cerebro vasculares (ACV) que pueden ocasionar afecciones o lesiones que comprometen el sistema locomotor, causando pérdida de la fuerza y trastornos en el movimiento de la mano. Estas enfermedades pueden generar debilidad en la mano produciendo en ella pérdida del movimiento, por tal motivo es necesario que las personas que han sufrido dichas enfermedades deban ser sometid...

Reconstrucción de rodilla con doble colgajo de gemelo Knee reconstruction with double gemelar muscular flap

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C. Márquez Zevallos

2011-06-01

Full Text Available Los traumatismos de miembros inferior representan un reto importante para el cirujano plástico en cuanto a su reconstrucción cuando no se dispone de técnicas microquirúrgicas. En el presente trabajo se presentan 2 casos de reconstrucción de rodilla con doble colgajo muscular de gemelo, en los que se demuestra que se pueden utilizar simultáneamente los dos gemelos sin dejar ninguna secuela estética importante ni funcional en la deambulación de los pacientes. Hasta donde podemos conocer, no existe en la literatura nacional ni internacional un reporte de casos con esta aplicación, ya que siempre se ha empelado un solo músculo precisamente por el temor a alterar la función de flexo-extensión del pie.Lower limb traumatism has always been a problem for plastic surgeon when in the moment of the surgical reconstruction we have not microsurgical techniques. In this paper, we present 2 cases of knee reconstruction using a double gemelar muscular flap, showing how is possible the simultaneous use of the two muscles without aesthetic or functional sequels. As we know, there is no national or international report of cases with this muscular reconstruction; it has been usual to use only one muscle, in order to avoid problems in the flexo-extension movements of the foot.

Respuesta hemodinámica con el entrenamiento en resistencia y fuerza muscular de miembros superiores en rehabilitación cardiaca Hemodynamic response to training in resistance and muscular strength of upper limbs in cardiac rehabilitation

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Diana M Camargo

2007-08-01

Full Text Available Antecedentes: el entrenamiento de la fuerza muscular en pacientes con eventos cardiovasculares, estaba totalmente contraindicado por el riesgo de incrementar las cifras de tensión arterial sistólica y diastólica, así como someter al miocardio a una sobrecarga. Objetivo: valorar la respuesta hemodinámica (frecuencia cardiaca, tensión arterial durante el entrenamiento de resistencia a la fuerza muscular en los pacientes que asisten a un programa de rehabilitación cardiaca. Diseño: cuasi experimental prospectivo. Excenario: se realizó un entrenamiento de resistencia a la fuerza muscular en miembros superiores a pacientes durante la fase II de rehabilitación cardiaca. Sujetos: se incluyeron 175 pacientes, 135 hombres y 40 mujeres con un promedio de edad de 58,79 años, los cuales presentaron enfermedad coronaria con y sin procedimientos de revascularización, cirugía de cambios valvulares, síncope y corrección quirúrgica de anomalías congénitas. Procedimiento: previo entrenamiento aeróbico (en banda sinfín o bicicleta estática, se realizó la valoración de fuerza muscular mediante una máxima repetición y se inició el entrenamiento de fuerza a 30%-50% de ésta, en circuito de tres ejercicios diferentes en miembros superiores, 10 repeticiones en tres series y frecuencia de dos veces por semana. Se realizó, además, monitoría de la frecuencia cardiaca y electrocardiograma por telemetría (V5, toma de presión arterial antes, durante y después de la sesión, y percepción subjetiva del esfuerzo por escala de Borg, y se observaron signos y síntomas de intolerancia a la actividad o descompensación. Para el análisis estadístico, se utilizaron medidas de tendencia central con los cambios cardiovasculares, y para comparar el cambio en la fuerza muscular, se utilizó una prueba de t pareada con un nivel de significancia de 0,05. Resultados: la fuerza muscular medida con la máxima repetición, evidenció un aumento significativo

Nuestra Experiencia con la técnica de Barcat y Godart en el Torticolis Muscular Congénito

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Remartínez Rivares, José María; Latorre Sahún, A.; Castiella Muruzabal, Tomás; Aznar Aznarez, J. Mª; Seral Iñigo, Fernando

1990-01-01

Los autores exponen los resultados obtenidos en diez casos de T.M.C. tratados quirúrgicamente con la técnica de Barcat y Godard, tanto estéticos como funcionales. Se analizan los parámetros de sexo, edad de intervención, lado afectado, tipo de parto, anomalías asociadas, y presencia de asimetría facial, movilidad craneal, pérdida de relieve muscular y aparición de bandas laterales postoperatorias. Estos resultados son comparados con los otros autores, mostrándose superiores....

Distrofia corneana polimorfa posterior em Síndrome de Alport

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Godoy, Flavia Ribeiro Monteiro de; Qahtani, Elham Al; Lyons, Christopher J.

2016-01-01

ABSTRACT We describe a six-year-old boy with a history of hematuria, posterior polymorphous corneal dystrophy and dots and fleck retinopathy. Alport syndrome should be ruled out in patients presenting with posterior polymorphous corneal dystrophy or anterior lenticonus and a family history of renal disease. RESUMO Descrevemos um paciente de 6 anos de idade com história de hematúria, distrofia corneana polimorfa posterior e retinopatia em "dots and flecks". Síndrome de Alport deve ser exclu...

Estudio clínico, genético y molecular en un paciente con atrofia muscular espinal

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Ibis Menéndez Alejo

1998-03-01

Full Text Available Las atrofias musculares espinales (AME infantiles son enfermedades neuromusculares hereditarias caracterizadas por la degeneración de las motoneuronas alfa del asta anterior de la médula espinal. La enfermedad de Werdnig-Hoffmann, AME tipo I, es la forma más grave, se transmite como un carácter autosómico recesivo y los afectados suelen fallecer durante el primer año de vida por fallo respiratorio. En este trabajo se presenta una familia cubana con 2 hijos con AME tipo I, en la cual el estudio molecular en uno de ellos permitió identificar los 2 cromosomas parentales asociados con ésta. Se encontró además en el paciente una deleción de ambas copias del gen SMN (exón 8 y del gen NAIP (exón 5. Los hallazgos ilustran la utilidad de estos estudios, con vistas a posibilitar el diagnóstico prenatal de la enfermedad.The infantile spinal muscular atrophies (SMA are hereditary neuromuscular diseases characterized by degenerated Alfa-motoneurons of the anterior spinal marrow horn. Werdning-Hoffman disease, Type 1 SMA, is the most serious affection being transmitted as an autosomal recessive character, so those affected may die from respiratory failures in the first year of life. This paper presents a Cuban family with two kids who suffer from Type-1 SMA; the molecular analysis carried out in one of them identified two parental chromosomes responsible for the disease. Also, a deletion of both copies of SMN gene (exon 8 and NAIP gene (exon 5 were discovered in this patient. These findings showed the usefulness of this kind of studies with a view to making a prenatal diagnosis of Werdning-Hoffman disease.

Alterações morfofuncionais renais em cães Golden Retriever Distróficos (GRMD

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Natalia J.N. Gonçalves

2014-04-01

Full Text Available A Golden Retriever Muscular Dystrophy (GRMD é geneticamente homóloga à distrofia muscular de Duchenne (DMD que acomete seres humanos. É uma doença genética que gera degeneração progressiva da musculatura esquelética. Considerando-se as intensas alterações musculares, é natural pensar em uma possível lesão renal decorrente da intensa lesão muscular. Foram avaliados seis cães machos da raça Golden Retriever afetados pela distrofia muscular (GRMD e três cães machos clinicamente sadios. A concentração de creatinina foi determinada e as proteínas urinárias foram avaliadas por eletroforese em gel de poliacrilamida. Os resultados mostraram que a proteinúria patológica não está diretamente associada à Distrofia Muscular de Duchenne, porém diversos parâmetros apresentaram concentrações aumentadas para animais afetados, como a razão proteína/albumina, que foi maior em cães distróficos, podendo ser indício de microalbuminúria e conseqüente lesão renal precoce. Estes resultados visam embasar avaliações clínicas e futuros estudos considerando-se as patologias decorrentes ou associadas a esta doença genética.

Ejercicio de resistencia muscular en adultos con diabetes mellitus tipo 2 Exercício de resistência muscular em adultos com diabetes mellitus tipo 2 Endurance training in adults with diabetes mellitus type 2

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Karina Asunción Muñoz Canché

2005-02-01

Full Text Available Objetivos. Probar la efectividad del ejercicio de resistencia muscular en las cifras de hemoglobina glucosilada (HbA1c, en la fuerza muscular y en la fortaleza muscular percibida; explorar la influencia de la dieta, otros ejercicios, hipoglucemiantes y manifestaciones asociadas a episodios de hipoglucemia o hiperglucemia sobre el control glucémico de adultos con diabetes mellitus tipo 2 provenientes de los consultorios de endocrinología de dos hospitales públicos de la Ciudad de Monterrey, México. Procedimientos básicos. Se usó un diseño de 12 semanas de grupo control no equivalente con dos grupos, experimental (n1 = 14 y control (n2 = 11. Los participantes contaron con la recomendación de su médico para participar. Las sesiones de ejercicio fueron de una hora, dos veces por semana. Resultados. El grupo experimental mostró decremento significativo en el porcentaje de HbA1c, e incremento en la fuerza muscular y fortaleza muscular percibida (p Objetivos: Provar a efetividade do exercício de resistência muscular nas taxas de hemoglobina A glicosilada (HbA1c, na força muscular e no fortalecimento muscular percebido, explorar a influência da dieta, outros exercícios, hipoglicemiantes e manifestações associadas a episódios de hipoglicemia ou hiperglicemia sobre o controle glicêmico de adultos com diabetes mellitus tipo 2, provenientes dos consultórios de endocrinologia de dois hospitales públicos da Cidade de Monterrey, México. Procedimentos básicos: Foi utilizado um desenho de 12 semanas de grupo controle não equivalente com dois grupos, experimental (n1=14 e controle (n2=11. Os participantes tiveram recomendação de seu médico para participar. As sessões de exercício foram de uma hora, duas vezes por semana. Resultados: O grupo experimental apresentou decréscimo significativo nas taxas de HbA1c, incremento na força muscular e fortalecimento muscular percebido (pObjectives. Test the effects of an endurance training

Características clínicas de los pacientes menores de 18 años con atrofia muscular espinal en Medellín, 2008 - 2013

OpenAIRE

Valencia, Hernán Darío; Rendón Muñoz, Jonathan; Pineda, Nicolás; Ortiz, Blair; Montoya, Jorge Hernán; Cornejo, José William

2016-01-01

Introducción: La atrofia muscular espinal (AME) es una enfermedad degenerativa que afecta las neuronas motoras del asta anterior de la médula espinal, se manifiesta por debilidad muscular progresiva de predominio proximal, hipotonía y arreflexia osteotendinosa, la etiología es una mutación en el gen de supervivencia neuronal SMN. Objetivo: determinar las características clínicas de los pacientes menores de 18 años con atrofia muscular espinal en de Medellín, durante el período 2008-2013. Mate...

Atrofia muscular espinal en el niño Spinal muscular atrophy present in children

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Nicolás Garófalo Gómez

2009-09-01

Full Text Available INTRODUCCIÓN. Las atrofias musculares espinales en la infancia (AME son trastornos genéticos autosómicos recesivos, caracterizados por degeneración de las motoneuronas espinales y bulbares. El presente estudio tuvo el objetivo principal de describir las principales características clínicas en una serie de niños con AME. MÉTODOS. Se realizó un estudio retrospectivo de los pacientes con AME atendidos en el Instituto de Neurología y Neurocirugía de Cuba, entre enero de 1997 y diciembre de 2001. Se recopilaron los datos de 35 pacientes, 4 de ellos, fetos con confirmación prenatal de AME. Se precisaron las principales características clínicas, electromiográficas, de la biopsia muscular y de los estudios genéticos moleculares realizados en cada caso. RESULTADOS. La AME de tipo II resultó la forma clínica más frecuente (58 %, seguida por la AME de tipo I (42 %. Las principales manifestaciones clínicas resultaron la debilidad muscular generalizada con predominio proximal en extremidades, asociada a hipotonía y arreflexia osteotendinosa. La deleción de los exones 7 y 8 del gen SMN1 se detectó en 20 de 23 casos estudiados (87 %.INTRODUCTION: Spinal muscular atrophies (SMA in childhood are autosomal recessive genetic disorders, characterized by spinal and bulbar motoneurons degenerations. Aim of present paper was to describe the main clinical features in a series of children presenting SMA. METHODS: A retrospective study of patients with SMA seen in the Neurology and Neurosurgery Institute of Cuba from January, 2997 and December, 2001 was made. Data from 35 patients were available; four of them were fetus with prenatal confirmation of SMA. Main clinical, electromyography, muscular biopsy, and of molecular genetic studies performed in each case were determined. RESULTS: Type II SMA was the more frequent clinical presentation (58%, followed by type I SMA (42,%. Main clinical manifestations were a systemic muscular weakness with

Sonolência excessiva diurna, apnéia do sono tipo central e distrofia miotônica

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Rubens Reimão

1985-12-01

Full Text Available São relatados dois casos de distrofia miotônica acompanhada de sonolência excessiva diurna. A avaliação polissonográfica de noite inteira revelou grande número de apnéias do sono tipo central deflagrando despertares freqüentes. As apnéias dos tipos obstrutivo e misto ocorreram em níveis normais e não se constatou hipoxia. Houve diminuição da eficiência do sono e redução dos estágios 3, 4 e REM. A apnéia central e a sonolência diurna que acarreta representariam manifestações precoces do comprometimento do sistema nervoso central na distrofia miotônica.

Cambios en el tono muscular en dos niños con parálisis cerebral espástica mediante la hipoterapia: reporte de casos

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Yasmín Andrea Rodríguez Laiseca

2015-06-01

Full Text Available Introducción: Estudios previos han demostrado que la hipoterapia como terapia complementaria mejora la función motora gruesa en niños con parálisis cerebral. Sin embargo la evidencia no es concluyente. Objetivo: Determinar los cambios en el tono muscular de dos pacientes con parálisis cerebral tipo cuadriparesia espástica mediante la hipoterapia. Descripción del caso: El estudio se llevó a cabo con dos sujetos de género masculino de dos años de edad, con diagnóstico de parálisis cerebral tipo cuadriparesia espástica, nivel V según la escala Gross Motor Function Clasification System (GMFCS. Los niños realizaron 27 sesiones de hipoterapia distribuidas de la siguiente manera: 3 sesiones de acoplamiento en hipoterapia en la primera semana y 24  sesiones de monta terapéutica con una frecuencia de tres veces por semana y una intensidad de 20 minutos por sesión. Se llevó a cabo la valoración del tono muscular mediante la escala de Ashworth modificada (MAS de la siguiente forma: una inicial, dos de control, cuatro post-monta, una final tras 9 semanas de tratamiento continuo y tres mediciones más en la semana uno, dos y tres de inactividad terapéutica. Resultados y discusión: La hipoterapia demostró efecto modulador sobre el tono muscular de los dos sujetos finalizadas las 27 sesiones de hipoterapia, pero este se pierde progresivamente durante el periodo de inactividad terapéutica. Por lo tanto se confirma que esta técnica puede ser una estrategia de tratamiento para el manejo de la espasticidad en pacientes con parálisis cerebral, siempre y cuando se aplique continuamente.

Resúmenes de los trabajos sobre las Enfermedades Neuromusculares

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Congreso Nacional de Neurología

2010-01-01

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...

Expresión de genes y proteínas asociados a distroglicanopatías en fotorreceptores en cultivo

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Haro, Carmen

2017-01-01

Las distroglicanopatías (DGPs) constituyen un grupo heterogéneo de distrofias neuromusculares congénitas con herencia autosómica recesiva que afectan al músculo, cerebro y retina, y están originadas por deficiencias en la O-glicosilación del α-distroglicano (α-DG). Esta modificación postraduccional es esencial para el anclaje de las células musculares y nerviosas a la matriz extracelular, así como para la formación de las sinapsis en ‘cinta’ entre los fotorreceptores y las células bipolares y...

Thoracic cirtometry in children with Duchenne muscular dystrophy: expansion of the method Toracometria em crianças com Distrofia Muscular de Duchenne: expansão do método

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Agenor Garcia Júnior

2013-02-01

avaliar a mobilidade do tórax durante uma respiração forçada, mas não permite pesquisar os movimentos compensatórios utilizados por portadores de doenças crônicas, como Distrofia Muscular de Duchenne (DMD, caracterizada pela degeneração progressiva e irreversível da musculatura esquelética. OBJETIVOS: Ampliar método de avaliação pela toracometria, permitindo avaliação dos movimentos compensatórios; analisar a confiabilidade da ferramenta e descrever a mobilidade torácica de crianças com DMD durante respiração profunda. MÉTODO: Participaram 60 meninos, 30 com DMD (10,1±0,5 anos e 30 saudáveis (9,5±0,6 anos. Organizou-se método de toracometria expandida em duas fases: livre movimentação corporal, permitindo avaliação de movimentos compensatórios (toracometria livre e movimentação corporal sem movimentos compensatórios, permitindo o estudo dirigido aos movimentos do gradil costal (toracometria dirigida. Esse método prevê filmagem e observação sistemática dos movimentos, gerando dados numéricos e descritivos. O estudo de confiabilidade foi realizado para os dois grupos. RESULTADOS: As medidas de toracometria axial e xifoide (livres e dirigidas apresentaram excelente confiabilidade. As medidas apresentaram diferenças significantes entre os grupos. Nas crianças com DMD, a toracometria livre apresentou valor de expansibilidade torácica maior quando comparada com a toracometria dirigida, provavelmente decorrente do auxílio dos movimentos compensatórios, sendo observados com maior frequência os associados à cabeça, ombro e tronco. CONCLUSÕES: O método de toracometria expandida apresentou excelente confiabilidade e permitiu descrever os movimentos compensatórios e da caixa torácica durante respiração profunda. Sugere-se sua utilização na avaliação respiratória de crianças com DMD.

Frecuencia de algunas enfermedades genéticas en Neuropediatría

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Tatiana Zaldívar Vaillant

2012-12-01

Full Text Available Introducción: las enfermedades neurológicas en Pediatría son diversas y obedecen a un gran número de causas: infecciosas, genéticas, metabólicas y degenerativas, entre otras. El diagnóstico genético, dentro del método clínico en Neurología, está relacionado con el diagnóstico etiológico. Existen muy pocas publicaciones que reflejen la frecuencia de las enfermedades neurogenéticas como grupo etiológico. Objetivo: describir la frecuencia de algunas enfermedades neuropediátricas en la Consulta de Neurogenética del Instituto de Neurología y Neurocirugía. Métodos: se realizó una investigación descriptiva y prospectiva en el periodo 2008-2010. Se clasificó a los pacientes por grupos etarios, y se calculó el porcentaje de frecuencia para la atrofia muscular espinal de la infancia, la distrofia muscular tipo Duchenne/Becker, las lesiones estáticas del sistema nervioso central de causa prenatal genética, y para la clasificación de los grupos según tipo de herencia. Resultados: el universo de estudio estuvo conformado por 161 pacientes, 72,6 % del sexo masculino, para una razón de la variable sexo de 2,5. Los escolares fueron mayoría (37,8 %, y la edad promedio 5 años. La distrofia muscular tipo Duchenne fue la enfermedad más frecuente (24,8 %. El 41,40 % clasificó en la herencia autosómica recesiva. Los resultados coinciden con lo reportado en la literatura. Conclusiones: las enfermedades neuromusculares hereditarias, y las lesiones estáticas del sistema nervioso central de causa prenatal genética, son las más frecuentes de solicitud de asesoramiento genético en un servicio de Neurogenética.

Cambios en el tono muscular en dos niños con parálisis cerebral espástica mediante la hipoterapia: reporte de casos

OpenAIRE

Rodríguez Laiseca, Yasmín Andrea; Lerma Castaño, Piedad Rocío

2015-01-01

Introducción: Estudios previos han demostrado que la hipoterapia como terapia complementaria mejora la función motora gruesa en niños con parálisis cerebral. Sin embargo la evidencia no es concluyente. Objetivo: Determinar los cambios en el tono muscular de dos pacientes con parálisis cerebral tipo cuadriparesia espástica mediante la hipoterapia. Descripción del caso: El estudio se llevó a cabo con dos sujetos de género masculino de dos años de edad, con diagnóstico de parálisis cerebral tipo...

Distrofia em forma-de-borboleta: relato de caso Butterfly-shaped pattern dystrophy: case report

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David Leonardo Cruvinel Isaac

2007-02-01

Full Text Available Os autores apresentam um caso de distrofia macular em forma-de-borboleta, diagnosticado em paciente do sexo masculino, apresentando concomitante atrofia do epitélio pigmentado da retina e perda visual central em um dos olhos. Os achados relatados contrariam conceitos inicialmente disponíveis de curso sempre benigno da doença. A lesão característica e bem delimitada no pólo posterior e a angiofluoresceinografia, permitiram estabelecer o diagnóstico. Descreve-se ainda, pela primeira vez, os achados da distrofia em forma-de-borboleta à tomografia de coerência óptica.The authors present a case of butterfly-shaped pattern dystrophy diagnosed in a male patient, with retinal pigmented epithelium atrophy and central visual acuity decrease in one of the eyes. The evolution of this case was not benign as described in previous reports. A well-defined lesion located in the posterior pole of both eyes associated with fluorescein angiography allowed the diagnosis of this pattern dystrophy. Optical coherence tomography was performed, showing the aspects of the pathology, for the first time.

Elaboração e confiabilidade da escala funcional do subir e do descer escada para Distrofia Muscular de Duchenne Elaboration and reliability of functional evaluation on going up and downstairs scale for Duchenne Muscular Dystrophy

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Lilian A. Y. Fernandes

2010-12-01

Full Text Available CONTEXTUALIZAÇÃO: Os instrumentos de avaliação funcional utilizados para pacientes com distrofia muscular de Duchenne (DMD, citados na literatura, são limitados e escassos, dificultando a tomada de decisão clínica fisioterapêutica. OBJETIVOS: Descrever o processo de criação de uma escala de avaliação funcional do subir e do descer escadas, específica para crianças com diagnóstico de DMD, e examinar sua confiabilidade inter e intraexaminadores. MÉTODOS: A construção da escala seguiu cinco etapas, a saber, elaboração de um roteiro para observação dirigida com base na literatura; observação do subir e do descer em 120 registros filmados de 30 crianças com DMD (5 a 11 anos; elaboração da escala, considerando o grau crescente de dificuldade de execução dos movimentos; criação do manual de preenchimento e submissão da escala e do manual a 10 examinadores, seguida de reajustes para criação da versão final. A confiabilidade foi testada pelo pesquisador (repetibilidade e dois examinadores independentes (reprodutibilidade. Utilizou-se o Índice de Correlação Intra-Classe (ICC e a Correlação de Kappa Ponderado. RESULTADOS: A escala elaborada abrange cinco fases para o subir e quatro fases para o descer escadas. Encontrou-se excelente confiabilidade intra/interexaminadores, com valores da Correlação de Kappa Ponderado > 0,78 em todas as fases e ICCs > 0,89, com pBACKGROUND: Instruments of functional evaluation for patients with Duchenne Muscular Dystrophy (DMD, available from the literature, are limited and scarce, making clinical decision on Physiotherapy difficulty. OBJECTIVES: To describe the process of creating a functional assessment scale in patients with DMD while going up and down the stairs, as well as to analyse the intra and inter-rater reliability of this scale. METHODS: The scale development consisted of five stages: 1 to elaborate a script for directed observation based upon literature, 2 to describe a

Disabilities caused by unstable mutations in Costa Rica

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Patricia Cuenca

2004-09-01

Full Text Available La distrofia miotónica tipo1 (DM1 y el síndrome del cromosoma X frágil (FRAXA son dos enfermedades hereditarias relativamente comunes. Ambas constituyen ejemplos de un nuevo tipo de mecanismo mutacional, llamado mutaciones inestables o dinámicas, expansión de tripletas, o amplificación del ADN. La DM1 se considera como la distrofia muscular más frecuente en los adultos y FRAXA es la principal causa de retardo mental hereditario. Este trabajo presenta resultados actualizados de un estudio prospectivo no aleatorio en pacientes clínicamente afectados, que se realiza con el objetivo de confirmar el diagnóstico con técnicas moleculares (Hibridación de Southern y reacción en cadena de la polimerasa, PCR, y llevar a cabo el tamizaje en cascada del resto de la familia para ofrecerles consejo genético adecuado. Se confirmó el diagnóstico clínico inicial en la mayoría de los casos de distrofia miotónica, pero en los casos con retardo mental, más de la mitad de los análisis resultaron negativos para la amplificación en el gen FMR1, específica de FRAXA. La razón principal para esto podría ser el cuadro clínico muy sutil que muestran los niños afectados antes de la pubertad. Los únicos métodos disponibles para prevenir estas discapacidades por el momento son, el tamizaje en cascada, el consejo genético y el aborto selectivo. De los cuales, el último no se puede llevar a cabo según las leyes vigentes en Costa Rica.

Presentación de tres casos de distrofia macular de North Carolina Presentation of three cases with North Carolina macular dystrophy

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Mavys Soto García

2012-06-01

Full Text Available Se presentan las características oftalmológicas de tres pacientes, dos hermanos varones y su padre con diagnóstico de distrofia macular de North Carolina. Este es un trastorno genético que produce degeneración macular congénita o de inicio precoz. Se caracteriza por una herencia autosómica dominante, con penetrancia completa, genéticamente mapeados en el cromosoma 6q16. Las lesiones son principalmente estacionarias. Las manifestaciones fundoscópicas varían. En estos pacientes predomina la lesión disciforme en área macular, disminución del grosor macular correspondiente con el coloboma macular, con idénticas particulares en los tres pacientes. La agudeza visual varía en rango de 0,6 a 0,2 en estos pacientes.The ophthalmological characteristics of three patients, two male siblings and their father, with diagnosis of North Carolina macular dystrophy were presented. This is a genetic dysfunction that causes congenital or early onset macular degeneration. It is characterized by a dominant autosomal heredity, with complete penetrance, genetically mapped in the chromosome 6q16. The lesions are mainly stationary. The funduscopic manifestations vary. The type of lesion is mainly stationary whereas funduscopic manifestations are varied. The dysciform lesion in the macular area and decrease of the macular thicness according to the macular coloboma prevailed, with identical particularities in the three patients. The visual acuity varied from 0.6 to 0.2.

Particularidades fisiopatológicas de las alteraciones musculares en el paciente con EPOC Physiologic particularities of muscle impairments in the patient with COPD

OpenAIRE

J. Gea; M. Orozco-Levi; E. Barreiro

2006-01-01

Los pacientes con enfermedad pulmonar obstructiva crónica (EPOC) presentan con frecuencia disfunción de sus músculos esqueléticos, sean respiratorios o localizados en las extremidades. Esta disfunción puede aparecer incluso en fases relativamente precoces y condiciona los síntomas y calidad de vida del paciente. En el caso de los músculos respiratorios, los factores que parecen determinar la disfunción muscular son sobre todo los cambios en la configuración torácica y el desequilibrio entre o...

High frequency chest wall oscillation plus Mechanical In-Exsufflation in Duchenne muscular dystrophy with respiratory complications related to pandemic Influenza A/H1N1

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G. Crescimanno

2010-11-01

Full Text Available Two young boys with Duchenne muscular dystrophy, who had contracted 2009 pandemic influenza A/H1N1 (pH1N1, had been treated with antibiotics and steroids without significant improvement. One of them showed severe scoliosis. After hospitalization chest CT scan revealed extensive pulmonary bilateral segmental atelectasis. Their clinical and radiological findings rapidly improved when a sequential respiratory physiotherapy protocol was adopted that consisted of the application of multiple sessions of high-frequency chest wall oscillations each one followed by mechanically assisted coughing manoeuvres. The protocol was well tolerated, effective, easy to apply and special positioning was not required. Fifteen days after treatment initiation both patients clinically recovered. This treatment can be very helpful for neuromuscular patients, particularly when scoliosis prevents conventional respiratory physiotherapy. Resumo: Duas crianças do sexo masculino com distrofia muscular de Duchenne que contraíram o vírus da gripe pandémica A/H1N1(pH1N1 de 2009 foram tratados com antibióticos e esteróides sem melhoria significativa.Um deles revelou escoliose severa. Depois da hospitalização, um TAC ao peito revelou uma atelectasia pulmonar segmentar bilateral extensa. Os seus resultados clínicos e radiológicos melhoraram rapidamente quando foi adoptado um tratamento de fisioterapia respiratória sequencial, consistente na aplicação de múltiplas sessões de oscilações torácicas de alta frequência, cada uma seguida por exercícios de tosse mecanicamente assistidos. O tratamento foi bem tolerado, eficaz e fácil de aplicar, sendo que não foi necessário um posicionamento especial. Quinze dias depois do início do tratamento, ambos os pacientes se encontravam clinicamente recuperados. Este tratamento pode ser muito útil em pacientes com doenças neuromusculares, particularmente quando a escoliose

High frequency chest wall oscillation plus Mechanical In-Exsufflation in Duchenne muscular dystrophy with respiratory complications related to pandemic Influenza A/H1N1

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G. Crescimanno

2010-11-01

Full Text Available Two young boys with Duchenne muscular dystrophy, who had contracted 2009 pandemic influenza A/H1N1 (pH1N1, had been treated with antibiotics and steroids without significant improvement. One of them showed severe scoliosis. After hospitalization chest CT scan revealed extensive pulmonary bilateral segmental atelectasis. Their clinical and radiological findings rapidly improved when a sequential respiratory physiotherapy protocol was adopted that consisted of the application of multiple sessions of high-frequency chest wall oscillations, each one followed by mechanically assisted coughing manoeuvres. The protocol was well tolerated, effective, easy to apply and special positioning was not required. Fifteen days after treatment initiation both patients clinically recovered. This treatment can be very helpful for neuromuscular patients, particularly when scoliosis prevents conventional respiratory physiotherapy. Resumo: Duas crianças do sexo masculino com distrofia muscular de Duchenne que contraíram o vírus da gripe pandémica A/H1N1(pH1N1 de 2009 foram tratados com antibióticos e esteróides sem melhoria significativa.Um deles revelou escoliose severa. Depois da hospitalização, um TAC ao peito revelou uma atelectasia pulmonar segmentar bilateral extensa. Os seus resultados clínicos e radiológicos melhoraram rapidamente quando foi adoptado um tratamento de fisioterapia respiratória sequencial, consistente na aplicação de múltiplas sessões de oscilações torácicas de alta frequência, cada uma seguida por exercícios de tosse mecanicamente assistidos. O tratamento foi bem tolerado, eficaz e fácil de aplicar, sendo que não foi necessário um posicionamento especial. Quinze dias depois do início do tratamento, ambos os pacientes se encontravam clinicamente recuperados. Este tratamento pode ser muito útil em pacientes com doenças neuromusculares, particularmente quando a escoliose

Meaning of Muscular Dystrophy

Science.gov (United States)

... is very similar to Duchenne, except kids with Becker MD may not have problems until much later, when they're teenagers or adults. It takes a long time for their muscles to become weak. How Does a Kid Get Muscular Dystrophy? MD is not contagious (say: con-TAY-juss), ...

Resúmenes de trabajos clínicos, VI Congreso AEXMUN

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Carlos E. Peña

1993-07-01

Full Text Available Resúmentes de los siguientes trabajos: Criterios de muerte cerebral ; Simposio sobre enfermedades del músculo estriado. Avances recientes en enfermedadesmusculares ; Selección y estudio del candidato atrasplante cardíaco ; Histopatología de la polimiositis ; Estructura molecular y mecanismo de acciónde los receptores de hormonas esteroides ; Histopatología de las distrofias musculares ; Tiroideopatías en la vejez; Función tiroidea en pacientes eutiroideos con enfermedad no tiroidea "Síndrome del paciente eutiroideo" ; Hipertensión arterial y endotelio ; Hipertensión renovascular

Distrofia polimorfa posterior: a propósito de un caso Posterior polymorphous dystrophy: A case presentation

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Alexeide de la C. Castillo Pérez

2008-12-01

Full Text Available Presentamos el caso de una paciente del sexo femenino de 15 años de edad con antecedentes de miopía que acude a consulta para chequeo de su ametropía. En el examen biomicroscópico se observaron opacidades disciformes, pequeñas, de color blanco grisáceo, irregulares a nivel de la membrana de Descemet y del endotelio. Se realizó examen ocular completo, refracción, topografía, paquimetría, queratometría, biometría y microscopia confocal in vivo de la córnea. Finalmente llegamos al diagnóstico de distrofia polimorfa posterior.The case of a female 15 years-old patient with a history of myopia, who went to the physician´s office for an ametrophy checkout, was presented in this paper. The biomicroscopic examination revealed small white/gray-coloured irregular and diffuse opacities at the level of Descement´s membrane and of the endothelium. A complete ophthalmological examination was performed including visual acuity, refraction, corneal topography, pakimetry, keratometry, biometry and in vivo confocal microscopy of the cornea. Finally, posterior polymorphous dystrophy was diagnosed.

Lipoma con patrón infiltrativo muscular

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Vergara Pages, Julio AJ; Ferrer Lozano, Yovanny; Rodríguez Reyna, Juan C.; Medina González, Maria E

2006-01-01

Los lipomas pueden crecer hasta alcanzar un gran tamaño y se clasifican en dos tipos: cutáneo o superficial, cuando se localizan encapsulados en los tejidos blandos superficiales; y profundo o subfascial, cuando su origen es poco delimitado o difuso y presentan estructuras profundas intraóseas, intermusculares e intramusculares. Esta última es poco usual, su localización puede pasar por desapercibida y toma un patrón de crecimiento infiltrativo a través de las fibras musculares estriadas, lo ...

Detección de alteraciones numéricas en el gen dys y su asociación con rasgos clínicos

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Alejandra Mampel

2011-04-01

Full Text Available La distrofia muscular de Duchenne/Becker (DMD/B es una miopatía hereditaria grave y progresiva. Se relaciona con alteraciones en el gen DYS, ubicado en el cromosoma X, que codifica para la proteína distrofina. Distintas manifestaciones pueden observarse según el impacto de la alteración genética sobre la proteína. Los registros internacionales de mutaciones refieren una elevada frecuencia (65-70% de deleciones/duplicaciones de uno o más exones del gen DYS. En este trabajo presentamos el estudio de alteraciones numéricas en los 79 exones del gen DYS. El estudio fue realizado en 59 individuos pertenecientes a 31 familias no relacionadas. La metodología utilizada fue Multiplex Ligation Dependent Probe Amplification (MLPA. En los 31 casos independientes se estableció además el score clínico, se realizó el test de Raven y se determinaron los valores de creatininfosfoquinasa (CPK en sangre. Nuestros datos revelan una frecuencia de alteraciones numéricas en el gen DYS del 61.3%, provocando un corrimiento del marco de lectura en el 100% de los casos. Se observó una región con mayor tendencia a presentar alteraciones que involucran un solo exón. La tasa de mutación de novo identificada fue del 35.2%. Se halló, a su vez, una asociación significativa entre afectados con alteraciones numéricas y valores del test de Raven de bajo rendimiento. Estos resultados aportan datos a los conocimientos regionales sobre las alteraciones genéticas y su impacto fenotípico en la enfermedad de Duchenne/Becker.

Padronização de parâmetros ecocardiográficos de cães da raça Golden Retriever clinicamente sadios Standardization of echocardiographic parameters of healthy Golden Retriever dogs

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Arine Pellegrino

2007-08-01

Full Text Available A distrofia muscular de Duchenne (DMD em humanos é uma alteração neuromuscular hereditária, de caráter recessivo, ligada ao cromossomo X e causada pela ausência ou disfunção da distrofina. Clinicamente, caracteriza-se por severa alteração na musculatura esquelética, resultando em morte precoce do indivíduo acometido. Em cães da raça Golden Retriever, a mutação que leva à distrofia muscular ocorre espontaneamente e a extensa homologia entre a patogênese da DMD e da distrofia muscular do Golden Retriever permite qualificar o cão como principal substituto de humanos nos testes clínicos de novas terapias. O miocárdio deficiente em distrofina é mais vulnerável à sobrecarga de pressão e os pacientes com DMD podem desenvolver cardiomiopatia dilatada e hipertensão arterial; à ecocardiografia, verificam-se anormalidades na função diastólica, além de insuficiência sistólica em alguns pacientes mais velhos. No presente estudo, 41 cães da raça Golden Retriever, clinicamente sadios, foram submetidos ao exame ecocardiográfico com a finalidade de se obterem os citados parâmetros na referida raça, o que futuramente poderá servir de referência na identificação de cães portadores ou afetados pela distrofia muscular.The Duchenne's muscular dystrophy (DMD in humans is a recessive X-linked neuromuscular disease, caused either by the absence or dysfunction of the dystrophin. Clinically it is characterized by severe alteration in the skeletal musculature, resulting in precocious death of the affected patient. In Golden Retriever dogs, the mutation that determines the muscular dystrophy occurs spontaneously and the extensive homology among the pathogenesis of DMD and of Golden Retriever muscular dystrophy allows to qualify the dog as the main substitute of humans in the clinical tests of new therapies. The deficient myocardium in dystrophin is more vulnerable to the pressure overload, and the patients with DMD can develop

Manejo de longo prazo em crianças com transtornos neuromusculares Long-term management of children with neuromuscular disorders

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Eugen-Matthias Strehle

2009-10-01

Full Text Available OBJETIVO: A distrofia muscular de Duchenne é o tipo mais comum de miopatia genética. Contudo, existe um grande número de doenças neuromusculares hereditárias que são individualmente muito raras e sobre as quais não há muita informação clínica disponível. Este artigo de revisão baseia-se na experiência do autor em uma clínica pediátrica para tratamento de doenças musculares e apresenta orientação prática e planos terapêuticos para os problemas frequentemente encontrados. FONTES DE DADOS: O banco de dados da MEDLINE foi pesquisado com o objetivo de localizar artigos recentes e relevantes para o manejo de crianças com miopatias e neuropatias hereditárias. Uma coorte de 200 pacientes foi avaliada através de análise estatística descritiva. SÍNTESE DOS DADOS: A distrofia muscular de Duchenne representou quase metade dos diagnósticos, seguida da atrofia muscular espinhal (12%, da distrofia muscular de Becker e da distrofia miotônica (7% cada. Dezesseis pacientes (9% apresentaram miopatia de origem desconhecida. CONCLUSÕES: Assim como ocorre com outras doenças crônicas, esses pacientes devem passar por acompanhamento periódico realizado por profissionais de saúde desde cedo para aumentar sua expectativa de vida e melhorar sua qualidade de vida. É útil para os médicos adotarem uma abordagem estruturada ao atender crianças com transtornos neuromusculares e monitorar todos os sistemas de órgãos afetados.OBJECTIVE: Duchenne muscular dystrophy is the commonest genetic myopathy but there exist a large number of inherited neuromuscular diseases which individually are very rare and where clinical information is not widely available. This review is based on the author's experience in a pediatric muscle clinic and provides practical guidance and treatment plans for frequently encountered problems. SOURCES: A MEDLINE search was conducted to retrieve recent articles relevant to the management of children with

Tomografia de coerência óptica na distrofia corneana gelatinosa em gotas: relato de caso

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Magalhães, Otávio de Azevedo; Rymer, Samuel; Marinho, Diane Ruschel; Kwitko, Sérgio; Cardoso, Isabel Habeyche; Kliemann, Lúcia

2012-01-01

Gelatinous drop-like corneal dystrophy is a rare disorder with few cases described in the present literature. The following report will show how difficult it is to diagnose this disease in early stages. Modern image exams, such as optical coherence tomography helps to diagnose and can be crucial to establish the best treatment. We will present the histopathological changes and clinical features in this unusual dystrophy.A distrofia corneana gelatinosa em gotas é uma desordem rara e pouco desc...

Lesiones musculares en el deporte. Muscular injuries in sport.

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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

Impacto de oito semanas de treinamento com pesos sobre a força muscular de homens e mulheres Impacto de ocho semanas de entrenamiento con pesos sobre la fuerza muscular de hombres y mujeres Impact of an eight-week weight training program on the muscular strength of men and women

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Raphael Mendes Ritti Dias

2005-08-01

Full Text Available O objetivo do presente estudo foi verificar o impacto de oito semanas de treinamento com pesos (TP sobre a força muscular. Para tanto, 23 homens (20,7 ± 1,7 anos e 15 mulheres (20,9 ± 2,1 anos, aparentemente saudáveis e moderadamente ativos (atividade física regular El objetivo del presente estudio fué el de verificar el impacto de ocho semanas de entrenamiento con pesos (TP sobre la fuerza muscular. Para ello, 23 hombres (20,7 ± 1,7 años y 15 mujeres (20,9 ± 2,1 años, aparentemente saludables y moderadamente activos (atividad física regular The objective of the present study was to verify the impact of an eight-week weight training program (WT on the muscular strength. To do so, 23 men (20.7 ± 1.7 years and 15 women (20.9 ± 2.1 years, apparently healthy and moderately active (regular physical activity < 2 times a week were submitted to a WT program composed of 10 exercises for the different muscular groups during eight consecutive weeks. Three series of 8-12 RM were performed in each exercise in three weekly sessions with intervals each 48 hours. The pre and post-training muscular strength was determined by means of 1-RM tests in bench press, squat and arm curl exercises after five familiarization sessions. Increases on the muscular strength were verified in both genders in all exercises investigated as well as in the total amount of load lifted (P < 0.01. Although men presented higher absolute strength when compared to women in all exercises evaluated, the gains observed along time were higher for women (14.7 vs. 7.6% in squat; 17.2 vs. 11.0% bench press; 20.4 vs. 14.0% in arm curl. The results suggest that the eight-week WT period seems to be sufficient to promote significant modifications in the muscular strength of men and women in different body segments (lower limbs, trunk and upper limbs.

Miopatia ocular descendente

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Nunjo Finkel

1972-06-01

Full Text Available São relatados 4 casos de miopatia ocular descendente (MOD com história familial levantada em três gerações. Biópsia musculares e eletromiografia em um caso confirmaram o caráter miogênico da doença. A MOD nada mais seria do que uma forma clínica especial de distrofia muscular, de início tardio.

Correlação entre a incapacidade funcional, idade e enzimas séricas nas doenças neuromusculares

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Lineu Cesar Werneck

1995-03-01

Full Text Available Foram estudados 806 casos de diversas doenças neuromusculares, a fim de verificar se existe correlação entre o grau de incapacidade funcional aferida pela escala de Vignos e Archibald (V&A e enzimas séricas (creatinoquinase, desidrogenase lática, aldolase, transaminase glutâmica oxalacética e pirúvica. Foram utilizados testes para a análise do coeficiente de correlação simples (Pearson e múltiplo. Foi encontrada correlação positiva (piora progressiva da incapacidade da V&A com a idade em algumas doenças, como a distrofia muscular de Duchenne, distrofia fascio-escapulo-umeral, distrofia miotônica, miopatias com defeitos enzimáticos da cadeia respiratória e esclerose lateral amiotrófica. Por outro lado, foi detectada correlação negativa (melhora progressiva dos sintomas na miopatia do multicore, miopatia benigna da infância com predomínio de fibras do tipo 1, deficiência de carnitina e dermatomiosite. A V&A mostrou maiores correlações (p< 0,05 entre as diversas enzimas sérícas quando estudadas isoladamente na distrofia muscular de Duchenne, distrofia óculo-crânio-somática, polimiositcs e periarterite nodosa. Quando as enzimas foram analisadas em conjunto, através de teste de correlação múltipla, verificou-se pequena correlação entre elas e a V&A. Esta reduzida interrelação sugere que a utilização de diversas enzimas na análise longitudinal das doenças neuromusculares é limitada, não tendo aplicação pratica, embora sejam muito importantes no diagnóstico.

CABLES MUSCULARES

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Alejandro Gómez

Full Text Available Los cables musculares o fibras de nitinol presentan una excelente alternativa a los actuadores convencionales, con una fuerza de actuación muy alta, equivalente a la de los actuadores hidráulicos, proporcionalmente a su peso, además de su acción silenciosa. Este material, inventado en 1963, aún no es muy conocido y de ahí que se haya realizado una recopilación de sus propiedades. Entre ellas, la temperatura de transición es la más importante, por ser la que activa la aleación. Muchos sistemas se han creado para alcanzar adecuadamente la temperatura de transición, y también se continúa en la investigación de métodos que ayuden a lograr un control preciso del movimiento de la aleación con memoria de forma (SMA.

Spinal muscular atrophy present in children

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Garófalo Gómez, Nicolás; Zaldívar Vaillant, Tatiana; Vargas Díaz, José; Rojas Massipe, Edelsia; Novoa López, Lucía

2009-01-01

INTRODUCCIÓN. Las atrofias musculares espinales en la infancia (AME) son trastornos genéticos autosómicos recesivos, caracterizados por degeneración de las motoneuronas espinales y bulbares. El presente estudio tuvo el objetivo principal de describir las principales características clínicas en una serie de niños con AME. MÉTODOS. Se realizó un estudio retrospectivo de los pacientes con AME atendidos en el Instituto de Neurología y Neurocirugía de Cuba, entre enero de 1997 y diciembre de 2001....

Queratectomía fototerapéutica en distrofia reticular corneal Phototherapeutical keratetocomy in corneal lattice dystrophy

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Miguel O Mokey Castellanos

2007-06-01

Full Text Available Se realizó un estudio retrospectivo en pacientes con distrofia corneal reticular en los que la recurrencia de la afección ocurrió después de diez años o más de realizada la queratoplastia perforante y en pacientes que presentaban la afección sin tratamiento quirúrgico previo, a los cuales se les realizó queratectomía fototerapéutica con excímer láser. Esta alternativa terapéutica se aplica en afecciones del estroma anterior de la córnea en la que se producen irregularidades en la superficie de esta y disminución de la visión. Fueron tratados 5 ojos correspondientes a 4 pacientes, 3 de ellos pertenecían a una misma familia. Los resultados terapéuticos y visuales mejoraron la calidad de vida de los pacientes, y se postergó la necesidad de retrasplante o trasplante. No tuvimos complicaciones. El excímer láser se convirtió en una alternativa, segura y eficaz en el tratamiento de estas afeccionesA retrospective study was performed on patients with lattice corneal dystrophy, who suffered recurrence ten or more years after penetrating keratoplasty and on patients suffering the same problem but without any previous surgical treatment, who had undergone phototherapeutical keratectomy with Excimer laser. This therapeutic alternative is useful for anterior stromal keratopathy in where corneal irregularities decrease the vision. Five eyes have been treated from 4 patients, 3 of them were relatives. The visual and therapeutical results improved the quality of life of patients, thus postponing the need for transplant or retransplant. No complications were encountered. Laser Excímer became an effective and safe alternative in the treatment of such diseases

IDENTIFICACIÓN Y COMPARACIÓN DE SINTOMAS DE DISMORFIA MUSCULAR ENTRE SUJETOS QUE PRACTICAN FISICO CULTURISMO Y OTROS QUE REALIZAN ENTRENAMIENTO CON PESAS

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Johnny Alberto Montoya Arroyo

2003-12-01

Full Text Available El propósito de este estudio fue identificar y comparar síntomas de dismorfia muscular, entre varones y mujeres, físico culturistas y que únicamente realizan entrenamiento con pesas. Doce físico culturistas hombres con 26.08 ± 7.4 años de edad; seis mujeres físico culturistas con 30.6±3.3 años de edad; catorce hombres de entrenamiento con pesas con 22.5±5.22 años de edad; y dieciocho mujeres de entrenamiento con pesas con una edad promedio de 24.33 ± 9.14 años, completaron la prueba Muscle Dysmorphia Scale, (MDI Scoring, así como la hoja de recolección de información general. Se realizó un análisis de covarianza, para los datos, con el que se encontró que los grupos de físico culturistas, poseen niveles significativamente más altos (p<0.05 de preocupación en los factores dieta, suplementación, protección física, dependencia al ejercicio, tamaño y simetría, farmacología, en días por semana de entrenamiento y horas por sesión de entrenamiento, con respecto a los grupos de hombres y mujeres de entrenamiento con pesas. Dentro de las conclusiones más importantes, se han encontrado ciertas tendencias dismórfico corporales o vigoréxicas, entre los participantes que forman parte del grupo de físico culturistas de acuerdo con la información suministrada por los sujetos. Además, se encontraron diferencias entre varones y mujeres en algunas variables.

Miopatía inflamatoria con compromiso inicial de músculos respiratorios y artritis reumatoidea

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Martín Hunter

2014-10-01

Full Text Available Las miopatías inflamatorias constituyen un grupo heterogéneo de enfermedades musculares adquiridas de presentación subaguda, crónica y a veces aguda. Las entidades clínicas más frecuentes son la dermatomiositis, la polimiositis, la miositis necrotizante autoinmune y la miositis por cuerpos de inclusión. Suelen presentarse con debilidad muscular con predominio proximal y simétrica, pero rara vez comprometen los músculos respiratorios. Presentamos el caso de una mujer de 39 años con miopatía inflamatoria inespecífica que presentó insuficiencia respiratoria secundaria a hipoventilación alveolar por debilidad muscular y requirió asistencia respiratoria mecánica. Respondió favorablemente y de forma rápida tras el tratamiento instaurado con inmunosupresores (corticoides y metotrexato e inmunoglobulina humana endovenosa. Se utilizó ventilación no invasiva como alternativa a la intubación orotraqueal con adecuada tolerancia.

Axenfeld-Rieger anomaly and corneal endothelial dystrophy: a case series Anomalia de Axenfeld-Rieger e distrofia corneana endotelial: uma série de casos

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Mariana Borges Oliveira

2008-12-01

Full Text Available Report of a study of a family with a remarkable combination of endothelial corneal dystrophy, and anterior chamber dysgenesis classified as Axenfeld-Rieger anomaly. A 56 year-old female had blurred vision complaints. A slit lamp evaluation showed a bilateral posterior embryotoxon and guttata with corneal edema, Descemet membrane's folds, characterizing Fuchs endothelial dystrophy. A 27 year-old daughter was asymptomatic. The biomicroscopic exam disclosed a bilateral nasal and temporal posterior embryotoxon and a central guttata. Gonioscopy showed iridocorneal strands with a prominent Schwalbe´s line. The intraocular pressure was normal. Her sister, a 25 year-old female presented very similar abnormalities along with her brother (22 years old. A 19 year-old female sister presented the iridocorneal angle alterations, without Fuchs endothelial dystrophy, until this moment. This paper presents a family with a central cornea guttata or Fuchs dystrophy associated with Axenfeld-Rieger anomaly. Two different inherited diseases appearing together in an entire family may suggest a single molecular and genetic etiology, with high penetrance.Relato dos resultados do estudo de uma família com distrofia corneana endotelial associada a uma disgenesia do segmento anterior, a anomalia de Axenfeld-Rieger. Paciente de 56 anos, feminina, queixava-se de visão borrada. O exame na lâmpada de fenda evidenciou embriotoxo posterior bilateral e guttata no centro da córnea, edema estromal e dobras na membrana de Descemet, caracterizando distrofia endothelial de Fuchs. A filha de 27 anos estava assintomática. A biomicroscopia revelou embriotoxo posterior nasal e temporal bilateral e guttata central. A gonioscopia evidenciou processos iridocorneanos até a linha de Schwalbe, que se encontrava anteriorizada e proeminente. A pressão intra-ocular estava normal. Não foram observadas alterações sistêmicas. Sua irmã, 25 anos, sexo feminino, apresentava altera

Influência do processo de familiarização para avaliação da força muscular em testes de 1-RM Influencia del proceso de familiarizacion para evaluación de la fuerza muscular en tests de 1-RM Influence of familiarization process on muscular strength assessment in 1-RM tests

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Raphael Mendes Ritti Dias

2005-02-01

Full Text Available Embora testes de uma repetição máxima (1-RM sejam freqüentemente utilizados para a avaliação da força muscular, acredita-se que os resultados obtidos possam ser afetados pela falta de familiarização prévia, até mesmo em sujeitos com experiência em exercícios com pesos. Assim, o objetivo deste estudo foi investigar o impacto do processo de familiarização para avaliação da força muscular em testes de 1-RM. Para tanto, 21 homens (24,5 ± 3,8 anos, aparentemente saudáveis, com experiência prévia de pelo menos seis meses em treinamento com pesos, foram submetidos a testes repetitivos de 1-RM nos exercícios supino em banco horizontal, agachamento e rosca direta de bíceps. Os testes foram executados em quatro sessões, intervaladas a cada 48-72 horas. Um número máximo de três tentativas, com intervalo de três a cinco minutos para recuperação, foi utilizado em cada exercício, nas quatro sessões de testagem. ANOVA para medidas repetidas, seguida pelo teste post hoc de Tukey, quando p 0,05, bem como entre a terceira e a quarta sessão no supino em banco horizontal e no agachamento (p > 0,05. Os resultados indicam que a falta de familiarização prévia com testes de 1-RM pode comprometer a avaliação da força muscular. Portanto, sugere-se, para avaliação mais acurada da força muscular mediante testes de 1-RM, a execução de duas a três sessões de familiarização em homens adultos com experiência em exercícios com pesos.Embora la utilización de tests de una repetición máxima (1-RM es frecuente para la evaluación de la fuerza muscular, se acredita que los resultados obtenidos puedan ser afectados por la falta de familiarización previa, hasta mismo en sujetos con experiencia en ejercicios con pesos. Asi, el objetivo de este estudio fué investigar el impacto del proceso de familiarización para evaluación de la fuerza muscular en tests de 1-RM. Por lo tanto, 21 hombres (24,5 ± 3,8 años, aparentemente

Padronização de parâmetros eletrocardiográficos de cães da raça Golden Retriever clinicamente sadios Standardization of electrocardiographic parameters in healthy Golden Retrievers dogs

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Arine Pellegrino

2010-12-01

Full Text Available A distrofia muscular de Duchenne (DMD em humanos é uma alteração neuromuscular hereditária, de caráter recessivo, ligada ao cromossomo X e causada pela ausência ou disfunção da distrofina. Clinicamente, caracteriza-se por grave alteração na musculatura esquelética, resultando em morte precoce do indivíduo acometido. Em cães da raça Golden Retriever, a mutação que leva à distrofia muscular ocorre espontaneamente e a extensa homologia entre a patogênese da DMD e da distrofia muscular do Golden Retriever permite qualificar o cão como o principal substituto de humanos nos testes clínicos de novas terapias. O miocárdio deficiente em distrofina é mais vulnerável à sobrecarga de pressão e os pacientes com DMD podem desenvolver cardiomiopatia dilatada, hipertensão arterial e o eletrocardiograma pode se apresentar distintamente anormal. No presente estudo, foram avaliados exames eletrocardiográficos de 38 cães da raça Golden Retriever clinicamente sadios (20 animais de até 12 meses de idade e 18 animais entre 12 e 36 meses de idade, com a finalidade de se obter parâmetros para a padronização do eletrocardiograma nessa referida raça, o que futuramente poderá servir de referência na identificação de cães portadores ou afetados pela distrofia muscular. Os valores eletrocardiográficos obtidos encontraram-se dentro dos valores de normalidade e referência para as diferentes raças de cães; e as variáveis peso e idade alteraram significativamente a freqüência cardíaca e a amplitude do complexo QRS.The Duchenne's muscular dystrophy (DMD in humans is a X-linked neuromuscular disease, of recessive character, caused either by the absence or dysfunction of the dystrophin. Clinically, it is characterized by severe alteration in the skeletal musculature, resulting in precocious death. In Golden Retriever dogs, the mutation that takes to the muscular dystrophy happens spontaneously and the extensive homology among the

Boletín de información: medical & pharmaceutical information service

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Revista, Facultad de Medicina

2011-01-01

Descubrimiento de grupos y tipos de plaquetas ; síntesis de la oxitocina; formación de anticuerpos en los ganglios Linfáticos y el bazo; ensayo en grande escala de una nueva vacuna antipoliomielitica; nueva terapia  de 1a distrofia muscular; tratamiento antibiótico intraperitoneal en la peritonitis.

The spectrum of myopathies in the city of São Paulo

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José A. Levy

1976-12-01

Full Text Available A review of all myopathic patients treated at the Neurologic Clinic of the Medical School of the University of São Paulo during the past 15 years is reported. A total of 466 cases were examined and distributed as follows: 56% of progressive muscular dystrophy; 31% of myasthenia gravis; 6% of polymyositis; 4% of myotonic dystrophy; and the remainder of several different diseases (central core disease, Kearns-syndrome, myotonia congenita, adynamia episodica hereditaria, diabetic myopathy and Eaton-Lambert syndrome. Enzymatic dosages, electromyography, muscle biopsy, electrocardiography and genetic counselling are also reported.Os autores fazem uma revisão de todos os casos de miopatias tratados na Clínica Neurológica da F.M.U.S.P. durante os últimos 15 anos. Foram examinados 466 casos, assim distribuídos: 56% de distrofia muscular progressiva; 31% de miastenia grave; 6% de polimiosite; 4% de distrofia miotônica e, o restante, de várias outras moléstias (Central core disease, síndrome de Kearns, miotonia congênita, adinamia episódica hereditária, miopatia diabética e síndrome de Eaton-Lambert. São relatadas também as dosagens enzimáticas, eletromiografia, biópsia muscular, eletrocardiografia e aconselhamento genético.

Efeitos de exercícios físicos em piscina sobre a função pulmonar do portador de distrofia muscular de duchenne. Um relato de caso

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Sales, Israel; Clebis, Naianne Kelly; Stabille, Sandra Regina

2008-01-01

A distrofi a muscular de Duchenne (DMD) leva a degeneração lenta do tecido muscular gerando fraquezamuscular, e insufi ciência respiratória. Na maioria dos casos, é uma doença hereditária para a qual ainda não se obteve cura.O tratamento disponível é paliativo e tem como fi nalidade retardar e minimizar as complicações que levam a incapacitaçãoe ao óbito. O presente relato objetivou a verif...

Distrofia miotônica: análise clínico-genética de uma família

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Jeová Barros da Silva

1970-03-01

Full Text Available Mediante o estudo de um caso probando foi possível fazer levantamento genealógico de uma família com 12 membros de ambos os sexos, afetados por distrofia miotônica. São analisados aspectos clínicos e laboratoriais, muitos dos quais confirmam trabalhos publicados anteriormente. Algumas novas contribuições são feitas uma vez que alguns dados são discrepantes dos já anteriormente registrados. A hereditariedade desta anomalia caracteriza-se por transmissão de um fator dominante e autossômico.

Contribuição da Fisioterapia para o bem-estar e a participação de dois alunos com Distrofia Muscular de Duchenne no ensino regular The contribution of Physiotherapy for the well-being and participation of two students with Duchenne Muscular Dystrophy in regular school

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Flávia de Freitas Pena

2008-12-01

Full Text Available A Distrofia Muscular de Duchenne (DMD é a mais grave e incapacitante dentre as miopatias infantis. As crianças enfraquecem progressivamente, sendo comum o óbito por infecção respiratória no final da adolescência. Os primeiros sintomas são percebidos na idade pré-escolar por professores ou cuidadores. Este estudo teve por objetivo verificar os efeitos de uma proposta de consultoria colaborativa da fisioterapia junto às professoras de sala e de Educação Física de dois alunos com DMD, estendendo-se a visita ao ambiente domiciliar de um deles, que apresentava grave comprometimento funcional, no sentido de melhorar sua participação e conforto na escola e em casa, contextos significativos no convívio diário. Foram feitas visitas à escola dos dois alunos e à residência de um deles para investigação de suas necessidades reais. Os dados foram coletados por meio de entrevistas com os alunos participantes, com suas professoras de sala e de Educação Física e com os pais daquele gravemente comprometido. As ações abrangeram adaptação da mobília escolar, materiais e recursos de baixa tecnologia para uso dos alunos com DMD e orientações especializadas às professoras participantes e aos pais do aluno mais comprometido. Constatou-se que a abordagem fisioterápica ecológica, orientada a adaptações ambientais e planejamento colaborativo de atividades, proporcionou algum apoio e conforto aos alunos participantes e favoreceu seu envolvimento/participação na escola, além de contribuir para a capacitação específica de suas professoras. Todavia, as adaptações na residência e a orientação aos pais revelaram-se medidas essenciais para proporcionar algum conforto e autonomia ao aluno gravemente comprometido, no ambiente domiciliar.Duchenne Muscular Dystrophy (DMD is among the most serious and incapacitating childhood myopathies. Children progressively lose strength and usually die from respiratory infection by the end of their

Boletín de información: Medical & Pharmaceutical Information Service

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Facultad de Medicina Revista

1954-01-01

Full Text Available Descubrimiento de grupos y tipos de plaquetas ; síntesis de la oxitocina; formación de anticuerpos en los ganglios Linfáticos y el bazo; ensayo en grande escala de una nueva vacuna antipoliomielitica; nueva terapia  de 1a distrofia muscular; tratamiento antibiótico intraperitoneal en la peritonitis.

Optical coherence tomography image in gelatinous drop-like corneal dystrophy: case report Tomografia de coerência óptica na distrofia corneana gelatinosa em gotas: relato de caso

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Otávio de Azevedo Magalhães

2012-10-01

Full Text Available Gelatinous drop-like corneal dystrophy is a rare disorder with few cases described in the present literature. The following report will show how difficult it is to diagnose this disease in early stages. Modern image exams, such as optical coherence tomography helps to diagnose and can be crucial to establish the best treatment. We will present the histopathological changes and clinical features in this unusual dystrophy.A distrofia corneana gelatinosa em gotas é uma desordem rara e pouco descrita em nossa literatura. O caso apresentado demonstra a dificuldade de realizar o diagnóstico nas fases mais iniciais da doença. O uso de modernos exames de imagem, como a tomografia de coerência óptica de segmento anterior, auxilia no diagnóstico e pode ser crucial para definir a melhor conduta terapêutica. Apresentaremos as alterações histopatológicas e as características clínicas desta incomum distrofia.

Atrofia muscular neurogénica en miopatía nemalínica: ¿Fenómeno primario o secundario? A propósito de un caso

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Alvarez L, Alberto José; Céspedes, Ghislaine; González, Jesús Enrique; Lara, Carmen

2003-01-01

La miopatía nemalínica es una miopatía congénita estructural que cursa con debilidad muscular generalmente no progresiva y se caracteriza por la presencia de los llamados "bastones" o "nemalines" en las fibras musculares. Se presenta el estudio anatomoclínico de una forma neonatal severa de la enfermedad en la cual encontramos, además, atrofia muscular neurogénica y escasas motoneuronas de la médula espinal con degeneración simple, sin otra evidencia de denervación. Se revisan otros casos sim...

Papel del colágeno VI en la homeostasis del músculo esquelético y tejido adiposo: implicaciones en la patofisiología de las distrofias musculares

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Rodríguez García, Mª Ángeles

2016-01-01

[spa] El colágeno VI es una proteína de la matriz extracelular cuyos defectos conducen a una variedad de trastornos musculares en humanos caracterizados por una debilidad muscular entre otros múltiples síntomas. Tanto el colágeno VI, como su fragmento soluble carboxilo terminal llamado endotrofina se encuentran altamente expresados en los dos principales tejidos periféricos que regulan la glucemia, el músculo esquelético y tejido adiposo. Los niveles de ARNm de colágeno VI en el tejido adipos...

Modelamiento y simulación de la contracción muscular mediante la estimulación magnética externa

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Bermeo Moyano, Juan Pablo; Sánchez Sánchez, Carlos Felipe

2017-01-01

El proyecto inicia revisando las ecuaciones de Maxwell, para simular y estimar las corrientes inducidas en un tejido muscular por un campo magnético mediante el MEF: M. Elementos Finitos. Se simula la fuerza muscular con el modelo de seis parámetros y optimizado por algoritmos genéticos para ajustar el modelo teórico con las medidas experimentales. The present project begins with the revision of the Maxwell equations, to simulate and estimate the currents induced in a muscle tissue by a ma...

Programa de entrenamiento de hipertrofia muscular para un jugador de baloncesto en postemporada

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Sol Plaza, Javier del

2013-01-01

El trabajo pretende mostrar la planificación, programación y periodización de un programa de entrenamiento para el desarrollo de la hipertrofia muscular en un jugador de baloncesto en postemporada. El objeto para el desarrollo de esta propuesta teórica es un jugador con un perfil joven, cuya experiencia en la liga ACB de baloncesto es de aproximadamente un año. El objetivo para este jugador es la ganancia de masa muscular durante la postemporada, es decir, durante el peri...

Rendimiento deportivo: glucógeno muscular y consumo proteico

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Pérez-Guisado, Joaquín

2008-01-01

Para conseguir un óptimo rendimiento deportivo mediante el control de parámetros relacionados directa o indirectamente con la ingesta, puede resultar de gran importancia conocer y saber controlar el entramado metabólico relacionado con el glucógeno muscular y la optimización del consumo proteico. La recuperación de las reservas de glucógeno tras la realización del ejercicio físico es un proceso lento que puede llevar de 24 a 48 h según las pérdidas producidas. La velocidad de resíntesis del g...

Evaluacion del componente central y periferico de fatiga muscular en pacientes neuropaticos y miopaticos

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L. G. Cohen

1983-09-01

Full Text Available Utilizando un método de cuantificación del electromiograma, se investigaron parte de los mecanismos centrales y periféricos responsables de la fatiga muscular en enfermos crónicamente denervados y en pacientes con compromiso muscular primitivo. Se observó en los denervados que los mecanismos de fatiga muscular, no difieren mayormente de los observados en el grupo de sujetos sanos, por el contrario, en los miopáticos a más del componente central, existen otros de orden periférico, tales como la pérdida de unidades motoras funcionantes durante el esfuerzo y el bloqueo temporario de la transmisión neuromuscular, que contribuye al desarrollo de la fatiga.

Disabilities caused by unstable mutations in Costa Rica

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Patricia Cuenca

2004-09-01

Full Text Available La distrofia miotónica tipo1 (DM1 y el síndrome del cromosoma X frágil (FRAXA son dos enfermedades hereditarias relativamente comunes. Ambas constituyen ejemplos de un nuevo tipo de mecanismo mutacional, llamado mutaciones inestables o dinámicas, expansión de tripletas, o amplificación del ADN. La DM1 se considera como la distrofia muscular más frecuente en los adultos y FRAXA es la principal causa de retardo mental hereditario. Este trabajo presenta resultados actualizados de un estudio prospectivo no aleatorio en pacientes clínicamente afectados, que se realiza con el objetivo de confirmar el diagnóstico con técnicas moleculares (Hibridación de Southern y reacción en cadena de la polimerasa, PCR, y llevar a cabo el tamizaje en cascada del resto de la familia para ofrecerles consejo genético adecuado. Se confirmó el diagnóstico clínico inicial en la mayoría de los casos de distrofia miotónica, pero en los casos con retardo mental, más de la mitad de los análisis resultaron negativos para la amplificación en el gen FMR1, específica de FRAXA. La razón principal para esto podría ser el cuadro clínico muy sutil que muestran los niños afectados antes de la pubertad. Los únicos métodos disponibles para prevenir estas discapacidades por el momento son, el tamizaje en cascada, el consejo genético y el aborto selectivo. De los cuales, el último no se puede llevar a cabo según las leyes vigentes en Costa Rica.Myotonic dystrophy and fragile X syndrome are two genetically determined relatively common disabilities. Both are examples of a new type of mutation mechanism called unstable or dynamic mutations, triple repeats expansions or DNA amplification. Fragile X syndrome is recognized as the main cause of hereditary mental retardation and myotonic dystrophy is considered the most common muscular dystrophy of adults. This is a prospective non randomized study of clinically affected people, in order to confirm the diagnosis with

Myotonic Muscular Dystrophy

Science.gov (United States)

... Marie-Tooth Disease (CMT) Congenital Muscular Dystrophy (CMD) Duchenne Muscular Dystrophy (DMD) Emery-Dreifuss Muscular Dystrophy Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Dystrophy (DM) Spinal-Bulbar ...

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

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Bruno Araújo Rego Santos Silva

2006-04-01

ón del tobillo. Se estudiaron 14 individuos saludables masculinos (con edad: entre 20-35 años, que tenían su TRM estimado a través de la eletromiografia (EMG de superficie. El principio de la actividad muscular se definió como el promedio del resto + 3x la desviación normal (DP. TRM de músculos peroneos estava moderado después de una inversión súbita de 20º cumplida en una plataforma. La inversión súbita se realizaba antes y después de la fatiga muscular, que era inducido por los ejercicios localizados en los músculos peróneos hasta agotamiento. Los resultados mostraron que había un aumento significante del tiempo de reacción muscular después de la fatiga (p The muscular fatigue (MF is a common phenomenon in the daily sports activities that results in a worsening of the motor performance. It is considered one of the major factors for muscle-skeletal damages, such as the ankle sprain, when the MF would affect both the afferent and the efferent systems. Several studies have been analyzing the influence of the MF on the neuromuscular control (NMC. Nevertheless, there are few researches comprising that influence on the velocity of the muscular reaction. The purpose of this study was to check the effects of the MF on the time of the muscular reaction (TMR in the fibularis muscles, which are the first to respond to an inversion stress of the ankle. Fourteen healthy male individuals (age: 20-35 years were studied, who had their TMR assessed by means of the surface electromyography (EMG. The beginning of the muscular activity was defined as the mean resting value +3x the standard deviation (SD. The TMR of the fibularis was measured after a sudden 20º inversion performed on a platform. The sudden inversion was performed before and after the muscular fatigue, which was induced through localized exercises of the fibularis up to the exhaustion. The results have shown a significant increase in the time of the muscular reaction after the fatigue (p < 0.01. While

Regeneración de las lesiones críticas del nervio periférico con factores de crecimiento: Estudio experimental

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García Medrano, Belén

2013-01-01

Introducción:El objetivo del proyecto es estudiar la regeneración de lesiones no reparables de nervio periférico mediante un injerto muscular enriquecido con factores de crecimiento. Material y método: Estudio experimental controlado, nivel I de evidencia cientifica. Comparamos diez ratas con reparación de lesiones de 15 mm del nervio ciático mediante injerto muscular acelular, con un grupo de diez años en los que se añade la inyección de 2 cc de IGF-l (10 mg/ml de me

Estudio preliminar del desarrollo muscular y su posible funcionalidad en una población cazadora fueguina

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Kozameh, Livia Febes

2001-01-01

Full Text Available En una primera etapa, este estudio propone analizar las fijaciones de ciertas inserciones musculares correspondientes a cinturas escapulares, brazos y antebrazos. El desarrollo de estas fijaciones, observado en restos óseos de una población cazadora, es tomado como indicador de algunos movimientos predominantes, los que sumados al tipo de esfuerzo muscular demandado podrían indicar distintas actividades cotidianas de estos pobladores. Los restos utilizados provienen de diversos sitios excavados durante la década del ´80 en Península Mitre, Isla Grande de Tierra del Fuego. El análisis osteológico se llevó a cabo mediante la observación macroscópica estructural y con lupa binocular. Se observó un marcado desarrollo en las diversas inserciones musculares analizadas, lo que sugeriría una gran demanda funcional de la estructura muscular de estos individuos.

Caracterización clínica y genética de familias españolas con retinosis pigmentaria autosómica dominante mediante secuenciación masiva y otras técnicas de diagnóstico molecular

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Fernández San José, Patricia

2018-01-01

Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Medicina, Departamento de Bioquímica. Fecha de lectura: 18-09-2017 Las distrofias hereditarias de retina (DR), con una prevalencia de 1: 3000, son la principal causa de discapacidad visual registrada en el mundo desarrollado. Este grupo de patologías están causadas por la degeneración de los fotorreceptores de la retina. Las DR representan una de las enfermedades hereditarias más heterogéneas, tanto clí...

Respuesta al entrenamiento en EPOC: Diferencia entre limitación por fatiga muscular y por disnea

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Martín Sívori; Laura Bustamante; Alejandro Martínez Fraga; Marta Almeida; César Saenz

2011-01-01

Este estudio comparó la respuesta post entrenamiento al ejercicio en pacientes limitados por fatiga muscular (LF) vs. disnea (LD). Se incluyeron pacientes con EPOC moderada y grave (definición GOLD), clasificándolos en LF si la respuesta a cicloergometría máxima tenía ≥ 2 puntos en la escala de Borg para fatiga muscular vs. disnea; LD a la inversa. Se realizaron ergometría submáxima, 6 minutos y pruebas de calidad de vida mediante cuestionario. Fueron entrenados 3 veces/semana, 90 min/sesión ...

Lyonización desfavorable: A propósito de una familia con retinosis pigmentaria Unfavorable lyonization: Apropos of a family with retinitis pigmentosa

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Rubén Rangel Fleites

2005-06-01

Full Text Available Durante muchos años la expresión de los genes ligados al cromosoma x representó una incógnita para los genetistas. Si bien los varones poseen sólo una copia de cada gen ligado al x, en tanto que las mujeres tienen dos, la cantidad de producto formado por un solo alelo en el varón o por un par de alelos en la mujer era equivalente. Finalmente esto fue explicado con la formulación del principio de inactivación del cromosoma x, que conlleva a tres consecuencias importantes: compensación de dosis, mosaicismo y variabilidad de expresión en heterocigotas. Una heterocigota manifiesta, en la que el alelo deletéreo se localiza en el cromosoma x activo y el alelo normal en el x inactivo, en todas o la mayor parte de las células constituye un ejemplo de lo que se conoce como lyonización desfavorable. Se ha descrito este fenómeno en muchos trastornos ligados al x incluyendo la ceguera al color, la hemofilia A y B, la distrofia muscular de Duchenne y varios trastornos oculares ligados al x. Se realizó el estudio clínico genético de una familia con diagnóstico de retinosis pigmentaria típica de herencia recesiva ligada al cromosoma x, en la que se manifiesta el fenómeno de lyonización desfavorableDuring many years the expression of the genes linked to x chromosome has been a mistery for geneticists. Men have only one copy of each gene linked to x chromosome, whereas women have two. The amount of product formed by only one allele in males, or by a couple of alleles in females was equivalent. Finally, this was explained with the formulation of the principle of inactivation of x chromosome that has 3 important consequences: dose compensation, mosaicism and variability of expression in heterocygotes. A manifested heterocygote, in which the deleteroous allele is located in the active x chromosome and the normal allele in the inactive x chromosome, in all or most part of the cells, is an example of what is known as unfavorable lyonization. This

Efecto de una dieta rica en proteínas y alta en fibra más la suplementación con aminoácidos de cadena ramificada sobre el estado nutricional de pacientes con cirrosis

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A. Ruiz-Margáin

2018-01-01

Conclusión: La suplementación con AACR más una dieta alta en proteína y fibra es una intervención segura en los pacientes con cirrosis. Ayuda al incremento de la masa muscular y no eleva los niveles de amonio o de glucosa, y tampoco se asocia con el desarrollo de encefalopatía hepática.

Muscular Dystrophy

Science.gov (United States)

... sets of muscles and cause different degrees of muscle weakness. Duchenne muscular dystrophy is the most common and the most severe ... can walk independently. Prednisone If a child has Duchenne muscular ... to help slow the rate of muscle deterioration. By doing so, the child may be ...

Arthrogryposis Multiplex: A Case Report La artrogriposis múltiple: a propósito de un caso

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Diego Alexis Blanco Manso

2012-11-01

Full Text Available Congenital muscular dystrophies appear from birth or early infancy with hypotonia and loss of proximal or generalized muscle strength. Contractures at birth are called arthrogryposis. Arthrogryposis multiplex is a disorder that is identified by congenital stiffness of one or more joints, caused by hypoplasia of the muscles in the region and also by an incomplete fibrous ankylosis. Some experts have attributed the disease to a prolonged intrauterine compression, but others propose that it is more likely that the syndrome originates from an early period of embryonic life. We report a case of arthrogryposis multiplex with walking impossibility due to a broken kneecap. Through rehabilitation in the Specialized Outpatient Center, the patient achieves locomotion.Las distrofias musculares congénitas se presentan desde el nacimiento o los primeros meses de vida con hipotonía y pérdida de la fuerza muscular proximal o generalizada. A las contracturas presentes al nacer se les denomina artrogriposis. La artrogriposis múltiple es un trastorno que se identifica por la rigidez congénita de una o más articulaciones, causada por la hipoplasia de los músculos ubicados en la región y también por una anquilosis fibrosa incompleta. Algunos especialistas han atribuido esta enfermedad a una compresión intrauterina prolongada, en cambio otros plantean, que es mucho más viable que el síndrome se origine en un periodo temprano de la vida embrionaria. Se presenta un caso de artrogriposis múltiple con imposibilidad para la marcha producto de una fractura de rótula que a por medio de la rehabilitación en el Centro Especializado Ambulatorio logra la locomoción.

Anestesia em criança com síndrome de Walker-Warburg

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Emine Arzu Kose

2014-04-01

Full Text Available Justificativa e objetivos: A síndrome de Walker-Warburg é uma distrofia muscular autossômica recessiva congênita rara, manifestada pelo sistema nervoso central com malformações oculares e possível envolvimento de vários sistemas. O diagnóstico é estabelecido pela presença de quatro critérios: distrofia muscular congênita, lisencefalia tipo II, malformação cerebelar e malformação da retina. A maioria das crianças com a síndrome morre nos primeiros três anos de vida por causa de insuficiência respiratória, pneumonia, convulsões, hipertermia e fibrilação ventricular. Relato de caso: É discutida a conduta anestésica em uma criança do sexo masculino, de dois meses, programada para cirurgia eletiva de derivação ventrículo-peritoneal. Conclusões: Uma abordagem anestésica cuidadosa é necessária por causa do envolvimento de vários sistemas. Relatamos a conduta anestésica em uma criança do sexo masculino de dois meses com síndrome de Walker-Warburg, que foi programada para cirurgia eletiva de derivação ventrículo-peritoneal.

Bases celulares y moleculares de la atrofia muscular espinal : papel del factor de supervivencia de las motoneuronas (SMN)

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Castillo Iglesias, María Soledad

2016-01-01

La atrofia muscular espinal (SMA) es una enfermedad infantil hereditaria caracterizada por la muerte de las motoneuronas con denervación y atrofia muscular que puede ocasionar la muerte de los pacientes por insuficiencias respiratoria. Su herencia es autosómica recesiva por deleción o mutaciones en el gen “Survival Motor Neuron 1” (SMN1), que codifica la proteína SMN. En el hombre existe un gen homólogo, SMN2, que produce niveles muy bajos de SMN completa y no evita la aparición de la enferme...

Frecuencia de algunas enfermedades genéticas en Neuropediatría Frequency of some genetic diseases in Neuropediatrics

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Tatiana Zaldívar Vaillant

2012-12-01

Full Text Available Introducción: las enfermedades neurológicas en Pediatría son diversas y obedecen a un gran número de causas: infecciosas, genéticas, metabólicas y degenerativas, entre otras. El diagnóstico genético, dentro del método clínico en Neurología, está relacionado con el diagnóstico etiológico. Existen muy pocas publicaciones que reflejen la frecuencia de las enfermedades neurogenéticas como grupo etiológico. Objetivo: describir la frecuencia de algunas enfermedades neuropediátricas en la Consulta de Neurogenética del Instituto de Neurología y Neurocirugía. Métodos: se realizó una investigación descriptiva y prospectiva en el periodo 2008-2010. Se clasificó a los pacientes por grupos etarios, y se calculó el porcentaje de frecuencia para la atrofia muscular espinal de la infancia, la distrofia muscular tipo Duchenne/Becker, las lesiones estáticas del sistema nervioso central de causa prenatal genética, y para la clasificación de los grupos según tipo de herencia. Resultados: el universo de estudio estuvo conformado por 161 pacientes, 72,6 % del sexo masculino, para una razón de la variable sexo de 2,5. Los escolares fueron mayoría (37,8 %, y la edad promedio 5 años. La distrofia muscular tipo Duchenne fue la enfermedad más frecuente (24,8 %. El 41,40 % clasificó en la herencia autosómica recesiva. Los resultados coinciden con lo reportado en la literatura. Conclusiones: las enfermedades neuromusculares hereditarias, y las lesiones estáticas del sistema nervioso central de causa prenatal genética, son las más frecuentes de solicitud de asesoramiento genético en un servicio de Neurogenética.Introduction: diverse neurological diseases are present in pediatrics and respond to a great number of causes, that is, infectious, genetic, metabolic and degenerative, among others. Within the clinical method in neurology, the genetic diagnosis is related to the etiological diagnosis. There are very few publications that show

Limb-Girdle Muscular Dystrophy (LGMD)

Science.gov (United States)

... Marie-Tooth Disease (CMT) Congenital Muscular Dystrophy (CMD) Duchenne Muscular Dystrophy (DMD) Emery-Dreifuss Muscular Dystrophy Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Dystrophy (DM) Spinal-Bulbar ...

Asociación entre la fuerza de las piernas y el área de sección muscular transversal del músculo cuádriceps femoral y el grado de actividad física en octogenarios

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Pedro Á. Latorre-Román

2016-06-01

Conclusiones. La fuerza muscular y la masa muscular del músculo cuádriceps mostraron una asociación significativa con el grado de actividad física en personas mayores. La fuerza muscular de las piernas fue un indicador útil para revelar la masa muscular y el grado de actividad física en estas personas, lo cual tiene relevancia en la práctica clínica.

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)

Experiencia con rituximab en miopatía inflamatoria idiopática refractaria

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Elmer R. García-Salazar

2013-10-01

Full Text Available Se describe las características clínicas y de laboratorio de dos pacientes que recibieron rituximab por miopatía inflamatoria idiopática (MII. Ellas eran refractarias a tratamiento convencional con DARMES, por lo que recibieron rituximab 1 gramo cada 14 días, en dos infusiones en ciclo semestral. En las historias clínicas se obtuvo los datos clínicos de fuerza muscular proximal, lesiones cutáneas patognomónicas, elevación de CPK, TGO, DHL y VSG, resultados de electromiografía, biopsia muscular y de piel. Ninguno de los dos casos presentó reacción medicamentosa ni infecciones durante y posterior a las infusiones. Rituximab mostró efectividad en la respuesta clínica y enzimática en estas pacientes con dermatomiositis refractarias a corticoides y DARMES tradicionales.

Revista de revistas

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Revista, Facultad de Medicina

2011-01-01

Sobre distrofias en el lactante El profesor titular de la Cátedra de Pediatría en la Facultad de Medicina de la Universidad Nacional, doctor Calixto Torres Umaña, acaba de publicar su libro "Sobre distrofias en el lactante". El texto abarca 292 páginas, y en ellas se estudia en forma sseria y profunda cómo deben tratarse, en lo que relacione con la medicina los motivos que, afectando la nutrición, dificultan en su primer año de vida el normal crecimiento del niño. Edmundo Escomel / Tratamient...

ATROFIA MUSCULAR ESPINAL: MANEJO RESPIRATORIO EN LA PERSPECTIVA DE LOS RECIENTES AVANCES TERAPÉUTICOS

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Dra. María Angélica Palomino; Dra. Claudia Castiglioni

2017-01-01

La atrofia muscular espinal (AME) es la primera causa genética de mortalidad en lactantes. La severidad de las manifestaciones clínicas es un continuo, con tres principales subtipos en pediatría: AME1 que se presenta en recién nacidos y no logran sentarse, AME2 en niños que no logran caminar pero sí sentarse y AME3 que logran caminar. La complicación más seria es la insuficiencia respiratoria. El enfoque del manejo respiratorio es preventivo, con toma de decisiones anticipadas por parte de lo...

Efeitos da ciclosporina a sobre a função renal de cães da raça Golden Retriever normais ou afetados pela distrofia muscular

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Adriana Caroprezo Morini

2008-10-01

Full Text Available The muscular dystrophy of Golden Retriever is a degenerative miopaty caused by the absence of dystrophy and it is genetically homologue of the Duchenne muscular dystrophy in humans, so, these dogs are considerably experimental models for studies on cellular therapy. Their successful depends of the adequate immunosuppression. Cyclosporin A is indicated for that and the monitoring of blood concentration and adverse effects are essential to viabilise the therapy. It was studied GRMD dogs, and normal dogs from the same breed, submitted for therapy with CsA, associated, on GRMD, of cell transplantation. It was evaluated the possible effects of the drug on renal functions. It has been considerate the clinic manifestations, urinalisis, testis of glomerular function and blood concentrations of urea, cretinine, sodium and potassium. In our results we found a discrete increase of blood urea on booth groups; increased levels of urine's cylinders and protein and also increase of urinary density on GRMD group. CsA therapy could make acute lesions on renal tubules, especially on GRMD. These dogs also have different reactions than normal dogs on relation of ions homeostasis and renal function. However, earlier diagnosis and adequate treatment could prevent the development of renal diseases.

Surpresa refrativa pós-facoemulsificação em distrofia corneana posterior amorfa Post-phacoemulsification refractive surprise in a posterior amorphous corneal dystrophy patient

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Giuliano de Oliveira Freitas

2010-02-01

Full Text Available Relato de um caso de surpresa refracional pós-operatória não pretendida em paciente portador de distrofia corneana posterior amorfa submetida à facoemulsificação. A provável causa do erro, bem como a conduta tomada a partir do reconhecimento da mesma, são discutidas neste relato.One case of post-phacoemulsification refractive surprise in a posterior amorphous corneal dystrophy patient is reported herein. Its likely causative factor, as well as our approach once it was recognized are discussed in this report.

Contribución para el criterio diagnóstico de la Dismorfia Muscular (Vigorexia

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Irene Gonz\\u00E1lez-Mart\\u00ED

2012-01-01

Full Text Available La Dismorfia Muscular o Vigorexia, es un trastorno mental cuyo foco de preocupación es la subestimación del tamaño y forma muscular, como consecuencia de la distorsión en la imagen corporal que padecen las personas afectadas. Se trata de un trastorno novedoso y, por lo tanto, no se encuentra clasificado en los manuales de desórdenes y trastornos mentales existentes. Mientras unos autores proponen su clasificación bajo un Trastorno de la Conducta Alimentaria (TCA, otros defienden que se trata de un Trastorno Dismórfico Corporal (TDC, o incluso se ha llegado a justificar su posible clasificación como Trastorno Obsesivo-Compulsivo (TOC. Ante la disparidad de criterio, en el presente estudio pretendemos contribuir en la clasificación de la Dismorfia Muscular, como desorden mental, mediante la técnica de clasificación árbol de decisión. Los elementos que cobran mayor relevancia dentro de este método clasificatorio son aquellos relacionados con el tamaño y forma corporal que los participantes tienen, se perciben y desean. A la luz de estos resultados contribuimos a clasificar la Dismorfia Muscular bajo el prisma de un TDC.

Evaluación de parámetros fisiológicos en función de la saturación de oxigeno muscular en mujeres con sobrepeso y obesidad. [Evaluation physiological parameters depending on muscle oxygen saturation in overweight and obesity].

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Aldo Alfonso Vasquez-Bonilla

2017-01-01

Full Text Available El objetivo de este estudio fue evaluar parámetros fisiológicos para comparar y correlacionar en función de la saturación de oxigeno muscular y hemoglobina total medida con espectroscopia de infrarrojo cercano no invasivo. La muestra (n=17 mujeres se dividieron en 2 grupos: sobrepeso/obesidad y normopeso, se valoró la composición corporal, parámetros fisiológicos, saturación de oxigeno muscular e indicie de esfuerzo percibido durante la prueba de esfuerzo incremental máxima en un cicloergometro en base a cuatro zonas metabólicas establecidas: fatmax, umbral aeróbico, umbral anaeróbico y zona de consumo máximo de oxígeno. Los resultados se analizaron utilizando el método estadístico Anova de un factor y la correlación de pearsón. Los resultados encontrados en el grupo normopeso la saturación de oxigeno muscular tiene correlación positiva alta con el vo2max durante la zona fatmax y umbral aeróbico (r=0,72- p=0,04 (r=0,77 – p=0,02, la frecuencia cardíaca de entrenamiento (r= -0,87 – p=0,01 tiene correlación negativa muy alta en la zona umbral anaeróbico, en el grupo sobrepeso obesidad no se encontró ninguna correlación. En conclusión las mujeres con normopeso la saturación de oxigeno muscular medida con espectroscopia de infrarrojo cercano no invasivo puede ser un buen parámetro fisiológico para programar ejercicio en la zonas fatmax, umbral aeróbico y umbral anaeróbico, pero en las mujeres con sobrepeso y obesidad se necesitan más estudios. Abstract The objective of this study was to compare physiological parameters and correlate function of muscle oxygen saturation and total hemoglobin measured with near-infrared spectroscopy noninvasive. The sample (n = 17 women were divided into 2 groups: overweight / obese and normal weight, was measured body composition, physiological parameters, saturation of muscle oxygen and index of perceived exertion during testing maximum incremental exercise on a cycle ergometer

Muscular dystrophy in a dog resembling human becker muscular dystrophy.

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Baroncelli, A B; Abellonio, F; Pagano, T B; Esposito, I; Peirone, B; Papparella, S; Paciello, O

2014-05-01

A 3-year-old, male Labrador retriever dog was presented with clinical signs of progressive exercise intolerance, bilateral elbow extension, rigidity of the forelimbs, hindlimb flexion and kyphosis. Microscopical examination of muscle tissue showed marked variability in myofibre size, replacement of muscle with mature adipose tissue and degeneration/regeneration of muscle fibres, consistent with muscular dystrophy. Immunohistochemical examination for dystrophin showed markedly reduced labelling with monoclonal antibodies specific for the rod domain and the carboxy-terminal of dystrophin, while expression of β-sarcoglycan, γ-sarcoglycan and β-dystroglycan was normal. Immunoblotting revealed a truncated dystrophin protein of approximately 135 kDa. These findings supported a diagnosis of congenital canine muscular dystrophy resembling Becker muscular dystrophy in man. Copyright © 2014 Elsevier Ltd. All rights reserved.

Aproximación genómica al diagnóstico genético de las distrofias hereditarias de retina y búsqueda de nuevos genes relacionados

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González del Pozo, María

2014-01-01

Diagnosticar genéticamente a las familias afectas de alguna de las distrofias hereditarias de retina (DHR) es, desde el punto de vista del genetista, una tarea ardua y complicada, si atendemos a la gran cantidad de genes y mutaciones reportados hasta la fecha. La gran heterogeneidad clínica y genética que caracteriza a este conjunto de enfermedades, es sin duda el mayor impedimento para su resolución genética. En este escenario, el empleo de herramientas cada vez más poderosas es indispensabl...

Rhabdomyolysis featuring muscular dystrophies.

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Lahoria, Rajat; Milone, Margherita

2016-02-15

Rhabdomyolysis is a potentially life threatening condition of various etiology. The association between rhabdomyolysis and muscular dystrophies is under-recognized in clinical practice. To identify muscular dystrophies presenting with rhabdomyolysis at onset or as predominant feature. We retrospectively reviewed clinical and laboratory data of patients with a genetically confirmed muscular dystrophy in whom rhabdomyolysis was the presenting or main clinical manifestation. Thirteen unrelated patients (males=6; females=7) were identified. Median age at time of rhabdomyolysis was 18 years (range, 2-47) and median duration between the first episode of rhabdomyolysis and molecular diagnosis was 2 years. Fukutin-related protein (FKRP) muscular dystrophy (n=6) was the most common diagnosis, followed by anoctaminopathy-5 (n=3), calpainopathy-3 (n=2) and dystrophinopathy (n=2). Four patients experienced recurrent rhabdomyolysis. Eight patients were asymptomatic and 3 reported myalgia and exercise intolerance prior to the rhabdomyolysis. Exercise (n=6) and fever (n=4) were common triggers; rhabdomyolysis was unprovoked in 3 patients. Twelve patients required hospitalization. Baseline CK levels were elevated in all patients (median 1200 IU/L; range, 600-3600). Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication. A persistently elevated CK level in patients with rhabdomyolysis warrants consideration for underlying muscular dystrophy. Copyright © 2015 Elsevier B.V. All rights reserved.

Força e arquitetura muscular do gémeo interno na bomba muscular venosa

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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...

Structural Organization of Muscular Elements of a Skin-Muscular Sac of Trematodes: Literature Survey

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Kanat Kambarovich Akhmetov; Irina Yurievna Chidunchi

2015-01-01

The issue of structural organization of muscular elements of a trematodes’ skin-muscular sac is considered in the study. Special attention is paid to an analysis of materials of preceding researches, study of foreign authors and also to additional literature reflecting peculiarities of structure of a trematodes’ body muscular system. The stated issue is insufficiently studied and calls for further researches. A comparative analysis of places of trematodes’ localization, taking into considerat...

Spinal Muscular Atrophy FAQ

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... as ALS (Lou Gehrig’s Disease), cystic fibrosis and Duchenne muscular dystrophy. Approximately 1 in 50 Americans, or about 6 ... Pediatric Neuromuscular Clinical Research Network ( PNCR ) and the Muscular ... is the SMN2 gene? Muscle weakness and atrophy in SMA results from the ...

Relato de caso: anestesia em paciente portador de distrofia torácica asfixiante: Síndrome de Jeune

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Deise Saletti

2012-06-01

Full Text Available JUSTIFICATIVA E OBJETIVOS: Síndrome de Jeune, ou Distrofia Torácica Asfixiante, é uma doença autossômica recessiva. Esta síndrome é caracterizada por uma displasia óssea com variadas anormalidades: torácica, pancreática, cardíaca, hepática, renal e da retina. A idade em que o quadro clínico dos pacientes se apresenta está correlacionada com a gravidade da doença. Esses pacientes apresentam policondrodistrofia com costelas largas, curtas, horizontais e junções costocondrais irregulares levando a uma caixa torácica rígida e reduzida com grau de injúria respiratória variado. RELATO DO CASO: Paciente do sexo masculino, 4 meses, 7 kg, portador de Distrofia Torácica Asfixiante. Apresentava-se intubado e com caixa torácica reduzida. Ecocardiograma: hipertensão pulmonar leve. Tomografia de tórax: hipoplasia pulmonar. Submetido à toracoplastia bilateral e toracotomia sob anestesia geral. Manutenção da anestesia: infusão contínua de sufentanil e sevoflurano. Parâmetros ventilatórios: ventilação mecânica ciclada à pressão. Com a abertura do tórax, houve melhora dos parâmetros ventilatórios e, após o posicionamento da prótese torácica, observou-se limitação ventilatória. Decidiu-se pela diminuição da prótese torácica com consequente melhora da ventilação. CONCLUSÕES: É imprescindível o diagnóstico de todas as anormalidades presentes para o correto manejo anestésico. Foi necessária observação para adequar ventilação pré- e pós-toracotomia/toracoplastia e para manter o paciente hemodinamicamente estável. A forma mais adequada para ventilação mecânica é a ciclada à pressão para vencer a barreira mecânica. No intraoperatório, é desejável manter o pico de pressão inspiratória o mais baixo possível para minimizar o risco de barotrauma, de impedimento do retorno venoso e diminuição do débito cardíaco.

Fuerza muscular, flexibilidad y postura en la prevalencia de dolor lumbar de los tripulantes de helicópteros del Ejército Nacional de Colombia

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Imma Caicedo Molina

2013-10-01

Full Text Available Objetivo. Determinar la relación entre la fuerza muscular, la flexibilidad y la postura con la prevalencia de dolor lumbar en los tripulantes de helicópteros del Ejército Nacional de Colombia. Materiales y métodos. Se realizó un estudio de tipo transversal bajo un modelo de regresión logística múltiple, enfocado en la medición de la fuerza muscular, la flexibilidad y la postura en tripulantes de helicópteros del Ejército Nacional de Colombia. Resultados. 108 tripulantes fueron evaluados, de quienes el 59,3 % presentó dolor lumbar. Se encontró que la fuerza de los músculos extensores de tronco constituyó un factor de protección (OR= 0,98. p0,05 y OR=1,04, p<0,05, Chi cuadrado 2,80 respectivamente. Conclusión. La fuerza muscular adecuada de los extensores de tronco constituye un factor protector frente al dolor lumbar en los tripulantes de helicópteros. Sin embargo, es necesario desarrollar más investigaciones en esta población que permitan mayor comprensión de los factores relacionados con el dolor. Las variables intervinientes de contexto, junto con las variables fisiocinéticas, constituyen una red compleja de determinantes del dolor lumbar en los tripulantes de helicópteros.

Genetics Home Reference: Fukuyama congenital muscular dystrophy

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... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

Influencia de la temperatura sobre el crecimiento muscular de la lubina, Dicentrarchus labrax L., durante el desarrollo larvario

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Ayala Florenciano, Mª Dolores

1999-01-01

En este trabajo se ha estudiado el efecto de la temperatura de incubación y cultivo sobre el desarrollo y el crecimiento muscular de lubina, Dicentrarchus labrax, Atlántica y Mediterránea. Durante la fase de alimentación endógena el empleo de alta temperatura incrementa preferiblemente la hipertrofia, observándose una fuerte disminución de la tasa hiperplásica en la fase prelarvaria, con independencia de la temperatura. Con el inicio de la alimentación viva comienza una etapa de rápido c...

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

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Pati??o Villada, Fredy Alonso

2015-01-01

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

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

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Poetscher, Arthur Werner; Ribas, Guilherme Carvalhal; Yasuda, Alexandre; Nishikuni, Koshiro

2005-03-01

Foraminal and extra-foraminal disc herniations comprise up to 11.7% of all lumbar disc herniations. Facetectomy, which had been the classic approach, is now recognized as cause of pain and instability after surgery. Otherwise, posterior lateral approaches through a trans-muscular or a para-muscular technique offer no significant damage to key structures for spinal stability. The surgical anatomy of these approaches has already been described, but they were not compared. In order to quantify the angle of vision towards the intervertebral foramen offered by each technique, 12 fresh cadavers were dissected and studied regarding these approaches. The angle presented by trans-muscular approach was wider in all studied lumbar levels. Surgery through the trans-muscular approach is performed with a better working angle, requiring a smaller resection of surrounding tissues. Therefore, minor surgical trauma can be expected. Our measurements support previously published data that point the trans-muscular approach as the best surgical option.

Orocaecal transit time in Duchenne muscular dystrophy.

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

Prevalence of muscular dystrophy in patients with muscular disorders in Tehran, Iran

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Khadijeh Hajinaghi Tehrani

2018-05-01

Full Text Available Muscular dystrophy is a group of diseases that is characterized by progressive muscle wasting and the weakness of variable distribution and severity. On the basis of the distribution of predominant muscle weakness, there are many different kinds of muscular dystrophy. Some dystrophies are especially frequent in certain populations. There are no studies on the prevalence of muscular dystrophy in Iran. This study was aimed to survey the prevalence of muscular dystrophy among Iranian patients with muscular disorders. This analytical cross-sectional study was conducted on 1000 patients with musculoskeletal disorders who visited the dystrophy association of Bou-Ali Hospital (Tehran from June 2014 to June 2016. Patients’ data were extracted using a checklist that included age, gender, age of onset, family history, findings from clinical diagnostic tests and types of muscular dystrophy. The clinical findings were the results of genetic tests; EMG-NCV; para-clinical findings, including LDH and CPK; and pathological findings. All data were analyzed by SPSS V.22 (IBM Inc., NY with Chi Square and One way ANOVA tests. All analyses were performed with P = 0.05 considered as the threshold of statistical significant. Out of the 337 patients studied, 262 (77.7% were male and 75 (22.3% were female. Subjects had a mean (± SD age of 26.08 (± 11.86 years with an age range of 3 to 59 years. The most common types of muscular dystrophy were found to be Duchenne dystrophy (131 cases, 38.9%, limb-girdle dystrophy (91 cases, 27%, Becker dystrophy (58 cases, 17.2%, FSHD dystrophy (31 cases, 9.2%, and SMA (26 cases, 7.7%, respectively. The results showed that a statistically significant relationship between dystrophy types and gender, age, family history, age of diagnosis, CPK and LDH levels (P < 0.001. There were no statistical relationship between dystrophy types and pathological findings (P = 0.57, EMG-NCV test results (P = 0.062, and genetic findings (P = 0

Dismorfia muscular Muscle dysmorphia

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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.

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

International Nuclear Information System (INIS)

Chakyrov, B.; Samardzhiev, A.

1977-01-01

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)

Avaliação da autofluorescência do fundo de olho nas distrofias de retina com o aparelho Heidelberg Retina Angiograph2 Evaluation of fundus autofluorescence in hereditary retinal diseases using Heidelberg Retina Angiograph2

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Monique Côco

2007-10-01

Full Text Available OBJETIVOS: Definir características do exame de autofluorescência, verificando sua utilidade no diagnóstico e acompanhamento de distrofias retinianas. MÉTODOS: Participaram do estudo, 28 pacientes, adultos, divididos igualmente em quatro grupos com diagnósticos de doença de Stargardt, distrofia de Cones, retinose pigmentar e voluntários saudáveis para estabelecimento do padrão de normalidade. Em média foram obtidas nove imagens com o filtro para angiofluoresceinografia para a formação da imagem autofluorescente no Heidelberg Retina Angiograph2. As imagens de cada grupo de pacientes foram analisadas para verificar características comuns. RESULTADOS: As imagens fundoscópicas autofluorescentes dos voluntários do grupo controle mostraram área foveal hipoautofluorescente em relação à retina do pólo posterior. As imagens dos portadores de doença de Stargardt, em geral, apresentaram lesão hipoautofluorescente, correspondendo à área macular. As principais alterações da autofluorescência em pacientes com distrofia de cones foram hipoautofluorescência macular com halo hiperautofluorescente. Nos portadores de retinose pigmentar, foram encontrados pigmentos periféricos causando hipoautofluorescência. Na região macular, hipoautofluorescência ou apenas desorganização do pigmento. CONCLUSÃO: O estudo mostrou a existência de padrões de autofluorescência de fundo nas distrofias de retina que permitem o diagnóstico e melhor interpretação da fisiopatogenia destas doenças.PURPOSE: To define characteristics of the fundus autofluorescence examination, verifying usefulness in the diagnosis and care of hereditary retinal diseases. METHODS: 28 patients, adults, divided equally into four groups with diagnoses of Stargardt macular dystrophy, cone dystrophy, retinitis pigmentosa and healthy volunteers for the establishment of the normality pattern. An average of nine images with the filter for fluorescein angiography was obtained

Revista de revistas

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Facultad de Medicina Revista

1945-08-01

Full Text Available Sobre distrofias en el lactante El profesor titular de la Cátedra de Pediatría en la Facultad de Medicina de la Universidad Nacional, doctor Calixto Torres Umaña, acaba de publicar su libro "Sobre distrofias en el lactante". El texto abarca 292 páginas, y en ellas se estudia en forma sseria y profunda cómo deben tratarse, en lo que relacione con la medicina los motivos que, afectando la nutrición, dificultan en su primer año de vida el normal crecimiento del niño. Edmundo Escomel / Tratamiento abortivo eficaz de los forúnculos y antrax por el Prof. Edmundo Escomel

Ceratoplastia endotelial lamelar profunda em distrofia de Fuchs: relato de caso Deep lamellar endothelial keratoplasty in Fuchs' dystrophy: case report

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Fernando Trench de Oliveira Komatsu

2004-08-01

Full Text Available Descrever o caso de paciente portador de distrofia de Fuchs submetido a ceratoplastia endotelial lamelar profunda. O procedimento cirúrgico foi realizado no olho direito em um caso de distrofia de Fuchs com falência endotelial. Realizou-se incisão límbica superior, o estroma corneano foi delaminado e um disco lamelar de 8,5 mm com 0,150 mm de espessura, contendo estroma, membrana de Descemet e endotélio, foi transplantado sem sutura corneana. Foram avaliados: acuidade visual sem e com correção, biomicroscopia, topografia, paquimetria ultra-sônica e densidade endotelial. A paciente apresentava na avaliação pré-operatória acuidade visual com correção de 20/100 (+4,00 DE -3,25 DC x 60º, astigmatismo de 6,6 dioptrias (37,5 a 12º x 44,1 a 102º, espessura paquimétrica de 0,625 mm e contagem endotelial de 720 cel/mm². Após três meses da cirurgia, apresentava-se com acuidade visual com correção de 20/30 (-1,25 DE -0,50 DC x 45º, astigmatismo regular de 1,0 dioptria (37,2 a 75º x 38,2 a 165º, espessura paquimétrica de 0,503 mm e contagem endotelial de 2447 cel/mm². Observaram-se como complicações: corte inadvertido da íris, má coaptação de bordas, dobras do disco doador e nébula na interface. Os resultados preliminares sugerem que a ceratoplastia endotelial lamelar posterior é uma alternativa para o tratamento cirúrgico da distrofia de Fuchs com falência endotelial. Seguimento mais prolongado e maior número de casos são necessários para melhor entendimento e caracterização desta técnica e de suas repercussões.To report a case of deep lamellar endothelial keratoplasty (DLEK technique applied to a patient with Fuchs' dystrophy. The surgical procedure was performed on the right eye for a case of Fuchs' dystrophy with endothelial failure. Through a 9 mm self-sealing scleral tunnel incision, a stromal pocket was dissected at 0.35 mm depth. A 8.5 mm lamellar donor disc with 0.150 mm thickness, containing posterior

Efeitos do treinamento de resistência na força muscular e níveis de fadiga em pacientes com câncer de mama Los efectos de los ejercicios de resistencia sobre varios músculos y niveles de fatiga en pacientes con cáncer de mama The effects of resistance training on muscular strength and fatigue levels in breast cancer patients

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Claudio Battaglini

2006-06-01

Full Text Available Os efeitos de programas generalizados de atividade física no combate ao câncer e aos efeitos colaterais de seu tratamento têm sido amplamente relatados na literatura. O objetivo do presente estudo foi o de examinar os efeitos de um programa de prescrição de exercício físico individualizado, com ênfase no treinamento resistido, na força muscular e nos níveis de fadiga em pacientes portadoras de câncer de mama em tratamento. Vinte mulheres foram divididas aleatoriamente em dois grupos, sendo um experimental (57,5 ± 23,0 anos e um controle (56,6 ± 16,0 anos. O grupo experimental exercitou-se, após a cirurgia, durante 60 minutos, de forma moderada, duas vezes por semana, durante 21 semanas. A força muscular total foi avaliada antes e após o tratamento e os níveis de fadiga foram avaliados em três momentos durante o treinamento. Foram encontradas diferenças significativas na força muscular total entre os grupos após o treinamento (p = 0,025. Os níveis de fadiga diminuíram significativamente entre os grupos após a primeira (p = 0,001 e a segunda (p = 0,005 intervenção e ao final do tratamento (p = 0,001. Os resultados deste estudo sugerem que os exercícios resistidos devem ser incluídos na prescrição de exercícios no combate da fadiga e na melhoria da força muscular em mulheres com câncer de mama, submetidas a tratamento.Los efectos de programas generalizados de actividad física de combate al cáncer y los efectos colaterales de su tratamiento vienen siendo bastante estudiados. El objetivo del presente estudio ha sido el de examinar los efectos de un programa prescrito de ejercicio físico individual, con énfasis en el entrenamiento resistido, en la fuerza muscular y en los niveles de fatiga en pacientes portadoras de cáncer de mama en tratamiento. Veinte mujeres fueron divididas aleatoriamente en dos grupos, siendo uno de ellos el experimental (57,5 ± 23,0 años y el otro de control (56,6 ± 16,0 años. El grupo

Mouthpiece ventilation in Duchenne muscular dystrophy: a rescue strategy for noncompliant patients.

Science.gov (United States)

Fiorentino, Giuseppe; Annunziata, Anna; Cauteruccio, Rosa; Frega, Gianfranco Scotto di; Esquinas, Antonio

2016-01-01

To evaluate mouthpiece ventilation (MPV) in patients with Duchenne muscular dystrophy (DMD) who are noncompliant with noninvasive ventilation (NIV). We evaluated four young patients with DMD who had previously refused to undergo NIV. Each patient was reassessed and encouraged to try MPV. The four patients tolerated MPV well and were compliant with NIV at home. MPV proved to be preferable and more comfortable than NIV with any other type of interface. Two of the patients required overnight NIV and eventually agreed to use a nasal mask during the night. The advantages of MPV over other types of NIV include fewer speech problems, better appearance, and less impact on the patient, eliminating the risk of skin breakdown, gastric distension, conjunctivitis, and claustrophobia. The use of a mouthpiece interface should be always considered in patients with DMD who need to start NIV, in order to promote a positive approach and a rapid acceptance of NIV. Using MPV during the daytime makes patients feel safe and more likely to use NIV at night. In addition, MPV increases treatment compliance for those who refuse to use other types of interfaces. Avaliar a ventilação bucal (VB) em pacientes com distrofia muscular de Duchenne (DMD) não aderentes à ventilação não invasiva (VNI). Foram avaliados quatro pacientes jovens com DMD que anteriormente recusaram-se a se submeter à VNI. Cada paciente foi reavaliado e encorajado a tentar VB. Os quatro pacientes toleraram bem a VB e aderiram ao uso de VNI em casa. O uso de VB provou ser uma alternativa preferível e mais confortável que o uso de VNI com qualquer outro tipo de interface. Dois dos pacientes necessitaram de VNI noturna e eventualmente aceitaram utilizar uma máscara nasal durante a noite. As vantagens da VB sobre outros tipos de VNI incluem menores problemas na fala, melhor aparência e menor impacto no paciente, eliminando o risco de lesões na pele, distensão gástrica, conjuntivite e claustrofobia. O uso da

A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy.

Science.gov (United States)

Yamada, Yuka; Kawakami, Michiyuki; Wada, Ayako; Otsuka, Tomoyoshi; Muraoka, Kaori; Liu, Meigen

2018-06-01

Swallowing dysfunction has been reported in Duchenne muscular dystrophy (DMD), but has not been studied in Becker muscular dystrophy (BMD). The aims of this study were to report the characteristics of swallowing dysfunction in BMD compared with DMD. The study participants were 18 patients with BMD and 18 patients with DMD. All the patients were examined using videofluorography during swallowing of 5 mL of fluid. The penetration-aspiration scale (P-A scale) and the videofluorographic dysphagia scale (VDS) were used to evaluate dysphagia. Swinyard functional ability stage was not significantly different between the BMD and DMD groups. Rate of aspiration, P-A scale score, and total VDS score did not differ across groups, but the VDS item score for laryngeal elevation was lower in the BMD group than in the DMD group (median scores 4.5 and 9, respectively; p Becker muscular dystrophy (BMD) was not well known. Eighteen patients with BMD and 18 patients with Duchenne muscular dystrophy were examined with videofluorography. Patients with BMD have swallowing problems similar to those observed in patients with DMD.

Morphologic imaging in muscular dystrophies and inflammatory myopathies

International Nuclear Information System (INIS)

Degardin, Adrian; Lacour, Arnaud; Vermersch, Patrick; Morillon, David; Cotten, Anne; Stojkovic, Tanya

2010-01-01

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.)

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.)

Learning about Duchenne Muscular Dystrophy

Science.gov (United States)

... protein. Often these boys are classified as having Becker muscular dystrophy. Genetic testing (looking at the body's genetic instructions) ... National Library of Medicine Web site Duchenne and Becker muscular dystrophy [ghr.nlm.nih.gov] From Genetics Home Reference ...

Caída abrupta del tono muscular al entrar a sueño MOR en el ser humano

OpenAIRE

Rosales-Lagarde, Alejandra; del Río-Portilla, Irma Yolanda; Guevara, Miguel Ángel; Corsi-Cabrera, María

2009-01-01

De acuerdo con el manual estandarizado para la clasificación del sueño en el ser humano, tres variables fisiológicas marcan el inicio del sueño con movimientos oculares rápidos (MOR): la desincronización electroencefalográfica (EEG), los movimientos oculares rápidos y la pérdida de tono muscular. De estos tres indicadores, uno de ellos, los movimientos oculares rápidos, es una manifestación intermitente o fásica que consiste en movimientos que pueden ser aislados o emitirse en salvas de vario...

Influência do bloqueador de receptor de angiotensina (Losartana potássica na função renal e pressão arterial em cães GRMD Influence of angiotensin receptor blocker of renal function and arterial pression in GRMD dogs

Directory of Open Access Journals (Sweden)

Marina Brito Silva

2009-04-01

Full Text Available A distrofia muscular de Duchenne (DMD é uma alteração neuromuscular caracterizada por contínua necrose muscular e degeneração, com eventual fibrose e infiltração por tecido adiposo. O aumento progressivo da fibrose intersticial no músculo impede a migração das células miogênicas, necessárias para a formação muscular. O modelo canino constitui-se nas melhores fenocópias da doença em humanos, quando comparados com outros modelos animais com distrofia. O tratamento antifibrose de pacientes DMD, tendo como alvo os mediadores da citocina, TGF-beta, e o tratamento com antiinflamatórios, podem limitar a degeneração muscular e contribuir para a melhora do curso da doença. O presente estudo teve como objetivo observar os possíveis efeitos adversos na fisiologia renal, por meio de avaliação bioquímica sanguínea e da pressão arterial, verificando a viabilidade do uso do Losartan (um inibidor de TGF-beta nos cães afetados pela distrofia muscular. Foram utilizados quatro cães adultos, sendo dois machos e duas fêmeas. Utilizou-se a dose de 50mg de Losartan, administrada via oral, uma vez ao dia. Os exames clínicos, bem como alterações na função renal, o nível do potássio sérico e a pressão arterial não evidenciaram reação adversa durante todo o período do experimento. O uso de Losartan, por um período de 9 semanas, mostrou-se como uma terapia segura para o tratamento antifibrótico em cães adultos, não afetando a função renal ou pressão arterial dos animais.Duchenne muscular dystrophy (DMD is a neuromuscular disorder characterized by a continuous muscle necrosis and degeneration with eventual fibrosis and fatty tissue infiltration. Progressive increase in muscle interstitial fibrosis prevents the movement of myogenic cells, which is necessary for myotube formation. Canine model is the best phenocopies of the disease in humans when comparing with others animal models with dystrophy. Anti-fibrotic treatment of

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

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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.

Estudio electrofisiológico de la funcion neuromuscular en una poblacion intoxicada con plomo

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O. M. Genovese

1988-03-01

Full Text Available Un grupo de 12 pacientes con cifras elevadas de plombemia y disminuidas de ALA D fueron estudiados electrofisiológicamente. Se efectuaron las siguientes determinaciones: amplitud de potencial evocado muscular; latencia distal motora; velocidad de conducción motora en los nervios mediano, ciático poplíteo externo y radial; velocidad de conducción sensitiva y amplitud del potencial evocado sensitivo de nervio en el mediano; exploración electromiográfica convencional; estudio de la transmisión neuromuscular, mediante estimulación repetitiva del nervio ciático popliteo externo a diversas frecuencias, con registro de la amplitud del potencial en músculo tibial anterior. Los datos obtenidos fueron comparados con controles. Se buscaron correlaciones entre las determinaciones bioquímicas y los diferentes hallazgos electrofisiológicos que a su vez se correlacionaron entre si y también con el tiempo de evolución de la intoxicación. Los hallazgos pusieron de manifiesto la presencia de neuropatía axonal junto a moderada desmielinización. La exploración de la transmisión neuromuscular mostró ocasional decremento o incremento de la amplitud del potencial muscular evocado, hechos que suponen cierta participación de la unión neuromuscular. Se halló correlación solamente entre disminución de ALA D y la disminución de las amplitudes del potencial sensitivo del mediano y el evocado muscular del mismo nervio y con la disminución de la VCM del nervio radial. Una débil relación se observó entre el tiempo de exposición y la disminución de la VCS del nervio mediano y VCM del radial. Las determinaciones bioquímicas y el tiempo de exposición transcurridos no probaron ser parámetros sensibles para determinar el grado de afectación del sistema nervioso periférico. El conjunto do hallazgos sugiere que el desarrollo de la neuropatía puede estar ligado a factores individuales de predisposición al daño nervioso.

Evaluacion del factor central y periferico en fatiga muscular en pacientes com daño piramidal

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Carlos G. Schutz

1983-09-01

Full Text Available Para evaluar algunos de los componentes de la fatiga muscular en el daño piramidal, se seleccionó un grupo de 15 pacientes con hemiparesia faciobraquiocrural de severidad variable, los cuales fueron sometidos a un esfuerzo muscular, durante el cual se evaluaron los cambios de la frecuencia y duración de los potenciales positivos y negativos del EMG, asi como los sufridos por la onda M máxima al principio y fin del mismo. El estudio fue realizado en el lado parético, el contralateral y en un grupo control de voluntarios sanos, comparándose los resultados de los 3 grupos. Las curvas de frecuencia y duración del lado parético, el sano y el control mantuvieron las mismas tendencias, así como fue homologable el comportamiento de la onda M máxima en los 3 casos, lo cual indica que en la espasticidad, debido a daño de la vía piramidal, al igual que en la población normal, bajo las presentes condiciones de estudio, es el factor central el condicionante principal en el desarrollo de fatiga muscular.

Effect of speed endurance and strength training on performance, running economy and muscular adaptations in endurance-trained runners

DEFF Research Database (Denmark)

Vorup Petersen, Jacob; Tybirk, Jonas; Gunnarsson, Thomas Petursson

2016-01-01

PURPOSE: To investigate the effects of combined strength and speed endurance (SE) training along with a reduced training volume on performance, running economy and muscular adaptations in endurance-trained runners. METHODS: Sixteen male endurance runners (VO2-max: ~60 ml kg(-1) min(-1)) were rand...... and speed endurance training, along with a reduced training volume, can improve short-term exercise capacity and induce muscular adaptations related to anaerobic capacity in endurance-trained runners.......PURPOSE: To investigate the effects of combined strength and speed endurance (SE) training along with a reduced training volume on performance, running economy and muscular adaptations in endurance-trained runners. METHODS: Sixteen male endurance runners (VO2-max: ~60 ml kg(-1) min(-1)) were...... randomly assigned to either a combined strength and SE training (CSS; n = 9) or a control (CON; n = 7) group. For 8 weeks, CSS replaced their normal moderate-intensity training (~63 km week(-1)) with SE (2 × week(-1)) and strength training (2 × week(-1)) as well as aerobic high (1 × week(-1)) and moderate...

La utilización de la biorretroalimentación en el aprendizaje motor de personas con lesión medular

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Lincoln Da Silva Gimenes

2009-06-01

Full Text Available El uso de biorretroalimentación en la rehabilitación de personas con lesión medular viene en aumento, aunque no haya datos consistentes sobre el alcance de esta técnica. El objetivo es averiguar la efi cacia de la técnica en la rehabilitación motora de pacientes con diferentes tipos de lesión medular. Se trata del estudio de tres casos: dos parapléjicos y un cuadripléjico con diferentes grados de defi ciencia que fueron sometidos a sesiones de entrenamiento de biorretroalimentación de electromiografía. Los datos se obtuvieron en sesiones de entrenamiento con biorretroalimentación, en exámenes manuales de fuerza muscular y en las declaraciones de los participantes al fi nal del entrenamiento. Se relacionaron los resultados de las sesiones de biorretroalimentación, los datos de las pruebas de fuerza muscular y reportes de los participantes, verifi cándose mejorías en todos los participantes y constatación de mejora en las tres fuentes de datos. Se concluye que la técnica de biorretroalimentación puede ser un mecanismo importante en la rehabilitación motora de pacientes con diferentes tipos de lesión

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...

Muscular dystrophy

Science.gov (United States)

... are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms. Physical therapy may help maintain muscle strength and function. Leg braces and a wheelchair ...

Efectos musculares y hematológicos del uso de rHuEpo en combinación con el entrenamiento físico. Implicaciones de la demospresina y la hipoxia en el dopaje sanguineo. Estudios in vivo e in vitro.

OpenAIRE

Martínez Bello, Vladimir Essau

2011-01-01

En la presente Tesis Doctoral hemos querido estudiar, en primer lugar, el efecto que tendría el incremento artificial de la capacidad de transporte de oxígeno, a través del tratamiento con rHuEpo, sobre distintos parámetros musculares así como su implicación en la mejora del rendimiento físico. Son muchos los autores que, tanto en el ámbito clínico (Winearls, Oliver y cols. 1986; Bommer, Muller-Buhl y cols. 1987) como en el ámbito deportivo (Berglund y Ekblom 1991; Lundby, Robach y cols. 2008...

Muscular Oxygen Uptake Kinetics in Aged Adults.

Science.gov (United States)

Koschate, J; Drescher, U; Baum, K; Eichberg, S; Schiffer, T; Latsch, J; Brixius, K; Hoffmann, U

2016-06-01

Pulmonary oxygen uptake (V˙O2) kinetics and heart rate kinetics are influenced by age and fitness. Muscular V˙O2 kinetics can be estimated from heart rate and pulmonary V˙O2. In this study the applicability of a test using pseudo-random binary sequences in combination with a model to estimate muscular V˙O2 kinetics was tested. Muscular V˙O2 kinetics were expected to be faster than pulmonary V˙O2 kinetics, slowed in aged subjects and correlated with maximum V˙O2 and heart rate kinetics. 27 elderly subjects (73±3 years; 81.1±8.2 kg; 175±4.7 cm) participated. Cardiorespiratory kinetics were assessed using the maximum of cross-correlation functions, higher maxima implying faster kinetics. Muscular V˙O2 kinetics were faster than pulmonary V˙O2 kinetics (0.31±0.1 vs. 0.29±0.1 s; p=0.004). Heart rate kinetics were not correlated with muscular or pulmonary V˙O2 kinetics or maximum V˙O2. Muscular V˙O2 kinetics correlated with maximum V˙O2 (r=0.35; p=0.033). This suggests, that muscular V˙O2 kinetics are faster than estimates from pulmonary V˙O2 and related to maximum V˙O2 in aged subjects. In the future this experimental approach may help to characterize alterations in muscular V˙O2 under various conditions independent of motivation and maximal effort. © Georg Thieme Verlag KG Stuttgart · New York.

Genetics Home Reference: spinal muscular atrophy

Science.gov (United States)

... difficulty breathing. Children with this type often have joint deformities (contractures) that impair movement. In severe cases, ... Proximal spinal muscular atrophy Washington University, St. Louis: Neuromuscular Disease Center: Spinal Muscular Atrophy Patient Support and ...

Genetics Home Reference: Duchenne and Becker muscular dystrophy

Science.gov (United States)

... Conditions Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy Printable PDF Open All Close All Enable Javascript ... dystrophy occur almost exclusively in males. Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused ...

Cardiac involvement in children with neuro-muscular disorders

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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.

Muscular Imbalance Correction in the Power Fitness Training

OpenAIRE

Olga E. Aftimichuk; Alexander V. Varvarich

2013-01-01

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

The Effects of Multiple-Joint Isokinetic Resistance Training on Maximal Isokinetic and Dynamic Muscle Strength and Local Muscular Endurance

Science.gov (United States)

Ratamess, Nicholas A.; Beller, Noah A.; Gonzalez, Adam M.; Spatz, Gregory E.; Hoffman, Jay R.; Ross, Ryan E.; Faigenbaum, Avery D.; Kang, Jie

2016-01-01

The transfer of training effects of multiple-joint isokinetic resistance training to dynamic exercise performance remain poorly understood. Thus, the purpose of the present study was to investigate the magnitude of isokinetic and dynamic one repetition-maximum (1RM) strength and local muscular endurance increases after 6 weeks of multiple-joint isokinetic resistance training. Seventeen women were randomly assigned to either an isokinetic resistance training group (IRT) or a non-exercising control group (CTL). The IRT group underwent 6 weeks of training (2 days per week) consisting of 5 sets of 6-10 repetitions at 75-85% of subjects’ peak strength for the isokinetic chest press and seated row exercises at an average linear velocity of 0.15 m s-1 [3-sec concentric (CON) and 3-sec eccentric (ECC) phases]. Peak CON and ECC force during the chest press and row, 1RM bench press and bent-over row, and maximum number of modified push-ups were assessed pre and post training. A 2 x 2 analysis of variance with repeated measures and Tukey’s post hoc tests were used for data analysis. The results showed that 1RM bench press (from 38.6 ± 6.7 to 43.0 ± 5.9 kg), 1RM bent-over row (from 40.4 ± 7.7 to 45.5 ± 7.5 kg), and the maximal number of modified push-ups (from 39.5 ± 13.6 to 55.3 ± 13.1 repetitions) increased significantly only in the IRT group. Peak isokinetic CON and ECC force in the chest press and row significantly increased in the IRT group. No differences were shown in the CTL group for any measure. These data indicate 6 weeks of multiple-joint isokinetic resistance training increases dynamic muscle strength and local muscular endurance performance in addition to specific isokinetic strength gains in women. Key points Multiple-joint isokinetic resistance training increases dynamic maximal muscular strength, local muscular endurance, and maximal isokinetic strength in women. Multiple-joint isokinetic resistance training increased 1RM strength in the bench press

The Effects of Multiple-Joint Isokinetic Resistance Training on Maximal Isokinetic and Dynamic Muscle Strength and Local Muscular Endurance.

Science.gov (United States)

Ratamess, Nicholas A; Beller, Noah A; Gonzalez, Adam M; Spatz, Gregory E; Hoffman, Jay R; Ross, Ryan E; Faigenbaum, Avery D; Kang, Jie

2016-03-01

The transfer of training effects of multiple-joint isokinetic resistance training to dynamic exercise performance remain poorly understood. Thus, the purpose of the present study was to investigate the magnitude of isokinetic and dynamic one repetition-maximum (1RM) strength and local muscular endurance increases after 6 weeks of multiple-joint isokinetic resistance training. Seventeen women were randomly assigned to either an isokinetic resistance training group (IRT) or a non-exercising control group (CTL). The IRT group underwent 6 weeks of training (2 days per week) consisting of 5 sets of 6-10 repetitions at 75-85% of subjects' peak strength for the isokinetic chest press and seated row exercises at an average linear velocity of 0.15 m s(-1) [3-sec concentric (CON) and 3-sec eccentric (ECC) phases]. Peak CON and ECC force during the chest press and row, 1RM bench press and bent-over row, and maximum number of modified push-ups were assessed pre and post training. A 2 x 2 analysis of variance with repeated measures and Tukey's post hoc tests were used for data analysis. The results showed that 1RM bench press (from 38.6 ± 6.7 to 43.0 ± 5.9 kg), 1RM bent-over row (from 40.4 ± 7.7 to 45.5 ± 7.5 kg), and the maximal number of modified push-ups (from 39.5 ± 13.6 to 55.3 ± 13.1 repetitions) increased significantly only in the IRT group. Peak isokinetic CON and ECC force in the chest press and row significantly increased in the IRT group. No differences were shown in the CTL group for any measure. These data indicate 6 weeks of multiple-joint isokinetic resistance training increases dynamic muscle strength and local muscular endurance performance in addition to specific isokinetic strength gains in women. Key pointsMultiple-joint isokinetic resistance training increases dynamic maximal muscular strength, local muscular endurance, and maximal isokinetic strength in women.Multiple-joint isokinetic resistance training increased 1RM strength in the bench press (by

Muscular Dystrophy

Science.gov (United States)

... Surveillance Tracking and Research Network , known as MD STAR net . Learn more about CDC’s other muscular dystrophy ... for Disease Control and Prevention Email Recommend Tweet YouTube Instagram Listen Watch RSS ABOUT About CDC Jobs ...

Utilización de la placa palatina de memoria y desarrollo orofacial en infante con Síndrome de Down

OpenAIRE

Vera Lúcia Carneiro; Judith Angélica Gonzales Sullcahuamán; Fabián Calixto Fraiz

2012-01-01

Los infantes con Síndrome de Down presentan en general, hipotonía de la muscular, cierre labial incompetente, lengua flácida y protruida. La placa palatina de memoria, propuesta por Castillo Morales, induce el cierre bilabial y posicionamiento correcto de la lengua. Este trabajo tuvo por objetivo evaluar el desarrollo orofacial, de una niña con Síndrome de Down, a través de terapia de estimulación precoz y utilización de placa palatina de memoria. Recibió tratamiento con placa palatina de mem...

Perspectivas moleculares y metabólicas de la suplementación con creatina en el entrenamiento de fuerza

Directory of Open Access Journals (Sweden)

Diego A. Bonilla

2015-01-01

Full Text Available En los últimos años el problema de investigación en el campo de la suplementación deportiva ha cambiado al punto de explicar los mecanismos metabólicos por los cuales la administración de creatina (Cr incrementa el rendimiento en ciertos deportes o simplemente beneficia la adaptación muscular. Esta revisión analiza por primera vez los mecanismos bioquímicos de la ingesta de Cr desde la perspectiva de señalización celular, enfocándose en la mayor biodisponibilidad energética de Cr y optimización de la acción buffer espacial/ temporal que ofrece el sistema Cr/PCr/CK. Además, se examinan aspectos relacionados con el incremento en los procesos de proliferación y diferenciación de células musculares (IGF-I/PI3K/Akt-PKB, SPHK1/ MAPK/p38/MRFs, mTOR, hinchamiento celular, actividad mitótica de células satélite, polimerización de actina y fusión de mioblastos y la inactivación y/o reducción en la expresión de proteínas con funciones ergolíticas (GSK3β, miostatina y regulación de AMPK. De esta manera, se explican el aumento de la masa muscular, la fuerza, la resistencia a la fatiga y el rendimiento en ejercicios de alta intensidad, producidos por la suplementación con monohidrato de Cr, desde un punto de vista metabólico.

Caffeine ingestion acutely enhances muscular strength and power but not muscular endurance in resistance-trained men.

Science.gov (United States)

Grgic, Jozo; Mikulic, Pavle

2017-09-01

The goal of this randomized, double-blind, cross-over study was to assess the acute effects of caffeine ingestion on muscular strength and power, muscular endurance, rate of perceived exertion (RPE), and pain perception (PP) in resistance-trained men. Seventeen volunteers (mean ± SD: age = 26 ± 6 years, stature = 182 ± 9 cm, body mass = 84 ± 9 kg, resistance training experience = 7 ± 3 years) consumed placebo or 6 mg kg -1 of anhydrous caffeine 1 h before testing. Muscular power was assessed with seated medicine ball throw and vertical jump exercises, muscular strength with one-repetition maximum (1RM) barbell back squat and bench press exercises, and muscular endurance with repetitions of back squat and bench press exercises (load corresponding to 60% of 1RM) to momentary muscular failure. RPE and PP were assessed immediately after the completion of the back squat and bench press exercises. Compared to placebo, caffeine intake enhanced 1RM back squat performance (+2.8%; effect size [ES] = 0.19; p = .016), which was accompanied by a reduced RPE (+7%; ES = 0.53; p = .037), and seated medicine ball throw performance (+4.3%, ES = 0.32; p = .009). Improvements in 1RM bench press were not noted although there were significant (p = .029) decreases in PP related to this exercise when participants ingested caffeine. The results point to an acute benefit of caffeine intake in enhancing lower-body strength, likely due to a decrease in RPE; upper-, but not lower-body power; and no effects on muscular endurance, in resistance-trained men. Individuals competing in events in which strength and power are important performance-related factors may consider taking 6 mg kg -1 of caffeine pre-training/competition for performance enhancement.

Metabolic Response to Four Weeks of Muscular Endurance Resistance Training

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John W. Farrell III

2017-10-01

Full Text Available Background: Previous investigations have shown that muscular endurance resistance training (MERT is conducive in improving the onset of blood lactate accumulation (OBLA. However, the metabolic response and time course for adaption is still unclear. Objective: The aims of the current study were to evaluate and track the metabolic response to an individual session of MERT as well as to assess performance adaptations of supplementing an aerobic exercise training program with four weeks of MERT. Methods: Seventeen aerobically active men were randomly assigned to either the experimental (EX or control group (CON, 9 EX and 8 CON. Baseline measures included a graded exercise test (GXT and 1-repetition maximum (1RM testing for leg press (LP, leg curl (LC, and leg extension (LE. CON continued their regular aerobic activity while the EX supplemented their regular aerobic exercise with 4 weeks of MERT. Results: No significant group differences were observed for all pre-training variables. Following four weeks of training no significant differences in cardiorespiratory or metabolic variables were observed for either group. However, significant improvements in LC and LE 1-RM were observed in EX compared to CON. Substantial accumulations in blood lactate were observed following each MERT session. Conclusion: Four weeks of MERT did not improve cardiorespiratory or metabolic variables, but did significantly improve LC and LE. MERT was also observed to induce a blood lactate response similar to that of HIIT. These findings suggest greater than four weeks is need to see metabolic adaptations conducive for improved aerobic performance using MERT.

Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.

Science.gov (United States)

Matsuzaka, Yasunari; Kishi, Soichiro; Aoki, Yoshitsugu; Komaki, Hirofumi; Oya, Yasushi; Takeda, Shin-Ichi; Hashido, Kazuo

2014-11-01

Muscular dystrophies are a clinically and genetically heterogeneous group of inherited myogenic disorders. In clinical tests for these diseases, creatine kinase (CK) is generally used as diagnostic blood-based biomarker. However, because CK levels can be altered by various other factors, such as vigorous exercise, etc., false positive is observed. Therefore, three microRNAs (miRNAs), miR-1, miR-133a, and miR-206, were previously reported as alternative biomarkers for duchenne muscular dystrophy (DMD). However, no alternative biomarkers have been established for the other muscular dystrophies. We, therefore, evaluated whether these miR-1, miR-133a, and miR-206 can be used as powerful biomarkers using the serum from muscular dystrophy patients including DMD, myotonic dystrophy 1 (DM1), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophy (FSHD), becker muscular dystrophy (BMD), and distal myopathy with rimmed vacuoles (DMRV) by qualitative polymerase chain reaction (PCR) amplification assay. Statistical analysis indicated that all these miRNA levels in serum represented no significant differences between all muscle disorders examined in this study and controls by Bonferroni correction. However, some of these indicated significant differences without correction for testing multiple diseases (P < 0.05). The median values of miR-1 levels in the serum of patients with LGMD, FSHD, and BMD were approximately 5.5, 3.3 and 1.7 compared to that in controls, 0.68, respectively. Similarly, those of miR-133a and miR-206 levels in the serum of BMD patients were about 2.5 and 2.1 compared to those in controls, 1.03 and 1.32, respectively. Taken together, our data demonstrate that levels of miR-1, miR-133a, and miR-206 in serum of BMD and miR-1 in sera of LGMD and FSHD patients showed no significant differences compared with those of controls by Bonferroni correction. However, the results might need increase in sample sizes to evaluate these three miRNAs as

IDENTIFICACIÓN DE DELECIONES EN AFECTADOS DE DISTROFIA MUSCULAR DE DUCHENNE Y BECKER (DMD/DMB Y DIAGNÓSTICO DE PORTADORAS POR METODOLOGÍAS MOLECULARES

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Patricia Hernández Rodríguez

2002-06-01

Full Text Available Se diseñó un ensayo de PCR múltiplex (6-plex que amplifica simultáneamente 6 exones del gen de la distrofina, estos exones son los que presentan mayor frecuencia de mutación. La proporción de deleciones observada en este estudio mediante el sistema 6-plex correspondió al31,25%, además el60% del total de las deleciones involucró los exones 44 al 52. Con el fin de identificar mujeres portadoras de DMD y DMB se utilizó el cálculo de dosis génica, a través de esta metodología fueron identificadas 7 mujeres como portadoras y 15 como no portadoras de deleción para los exones analizados, en este estudio no se encontró ninguna mujer como portadora de duplicación. Con la utilización de polimorfismos dinucleotídicos (CAn localizados en el interior del gen fue posible establecer inforrnación sobre el cromosoma X que posiblemente está afectado en el 63% de las mujeresanalizadas.

Doenças neuromusculares Neuromuscular disorders

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Umbertina C. Reed

2002-08-01

Full Text Available Objetivo: apresentar os dados essenciais para o diagnóstico diferencial entre as principais doenças neuromusculares, denominação genérica sob a qual agrupam-se diferentes afecções, decorrentes do acometimento primário da unidade motora (motoneurônio medular, raiz nervosa, nervo periférico, junção mioneural e músculo. Fontes dos dados: os aspectos clínicos fundamentais para estabelecer o diagnóstico diferencial entre as diferentes doenças neuromusculares, bem como entre estas e as causas de hipotonia muscular secundária ao comprometimento do sistema nervoso central ou a doenças sistêmicas não-neurológicas, são enfatizados, com base na experiência clínica vinda do atendimento a crianças com doenças neuromusculares durante os últimos 12 anos, no ambulatório de doenças neuromusculares do Hospital das Clínicas da Faculdade de Medicina, da Universidade de São Paulo. A revisão bibliográfica foi efetuada através do Medline e do periódico Neuromuscular Disorders, publicação oficial da World Muscle Society. Síntese dos dados: nas crianças, a maior parte destas afecções é geneticamente determinada, sendo as mais comuns a distrofia muscular progressiva ligada ao sexo, de Duchenne, a amiotrofia espinal infantil, a distrofia muscular congênita, a distrofia miotônica de Steinert, e as miopatias congênitas, estruturais e não estruturais. Polineuropatias hereditárias, síndrome miastênica congênita e miopatias metabólicas são menos comuns, porém mostram correlação geno-fenotípica cada vez mais precisa. Conclusões: na década passada, inúmeros avanços da genética molecular facilitaram imensamente o diagnóstico e o aconselhamento genético das doenças neuromusculares mais comuns das crianças, inclusive possibilitando diagnóstico fetal e, adicionalmente, vieram permitir melhor caracterização fenotípica e classificação mais objetiva.Objective: to discuss the most important aspects for performing a

Radiographic features of Golden Retriever muscular dystrophy.

Science.gov (United States)

Brumitt, Jason W; Essman, Stephanie C; Kornegay, Joe N; Graham, John P; Weber, William J; Berry, Clifford R

2006-01-01

Golden Retriever muscular dystrophy is an inherited, degenerative myopathy due to the absence of dystrophin and is used as a model of Duchenne muscular dystrophy of young boys. This report describes the radiographic abnormalities of Golden Retriever muscular dystrophy in 26 dogs. The thoracic abnormalities included diaphragmatic asymmetry (18/26), diaphragmatic undulation (18/26), and gastro-esophageal hiatal hernia (6/26). Pelvic abnormalities included narrowing of the body of the ilia (14/19), ventral deviation and curvature of the tuber ischii (14/19), elongation of the obturator foramen with a decrease in opacity of the surrounding bone (12/19), and lateral flaring of the wings of the ilia (12/19). Abdominal abnormalities consisted of hepatomegaly (14/22) and poor serosal detail (12/22). The unique thoracic abnormalities were a consistent finding in affected Golden Retriever muscular dystrophy dogs. The diagnosis of muscular dystrophy should be included in the differential list if the combination of diaphragm undulation and asymmetry, and gastro-esophageal hiatal hernia are identified. These diaphragmatic abnormalities are related to hypertrophy and hyperplasia of the diaphragm. Additionally, the skeletal changes of pelvic tilt, elongation of the pelvis, widening of the obturator foramina and thinning of the ischiatic tables appear to be specific to Golden Retriever muscular dystrophy in dogs. These pelvic abnormalities are most likely secondary to bone remodeling associated with the progressive skeletal myopathy and subsequent contracture/fibrosis.

What Are the Types of Muscular Dystrophy?

Science.gov (United States)

... muscular dystrophy? There are more than 30 forms of muscular dystrophy (MD), with information on the primary types included in the table below. 1 Duchenne (DMD) What It Is Common Symptoms How It ...

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy.

Science.gov (United States)

Wood, Molly F; Hughes, Sarah C; Hache, Lauren P; Naylor, Edwin W; Abdel-Hamid, Hoda Z; Barmada, M Michael; Dobrowolski, Steven F; Stickler, David E; Clemens, Paula R

2014-06-01

Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue. Copyright © 2013 Wiley Periodicals, Inc.

Mitochondrial disorders in progressive muscular dystrophies

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D. A. Kharlamov

2014-01-01

Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of different progressive muscular dystrophies. It describes changes in Duchenne, limb-girdle, facial scapulohumeral (Landuzi—Degerina muscular dystrophies. The review is based on both clinical and experimental animal studies. Along with the implication of mitochondria in the pathogenesis of the diseases, it describes muscular dystrophy treatment options compensating for energy disorders and overcoming oxidative stress and mitochondrial dysfunction. Mitochondrial studies in different muscle diseases hand physicians treatment modalities that fail to lead to recovery, but compensate for disorders caused by mutations in the genetic apparatus. 

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.

Science.gov (United States)

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

2010-09-01

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 1 of the participating sites. Critical diagnostic elements of each abstracted record are reviewed independently by >4 clinicians and assigned to 1 of 6 case definition categories (definite, probable, possible, asymptomatic, female, not Duchenne/Becker muscular dystrophy) by consensus. As of November 2009, 815 potential cases were reviewed. Of the cases included in analysis, 674 (82%) were either ''definite'' or ''probable'' Duchenne/Becker muscular dystrophy. These data reflect a change in diagnostic testing, as case assignment based on genetic testing increased from 67% in the oldest cohort (born 1982-1987) to 94% in the cohort born 2004 to 2009.

Becker muscular dystrophy: an unusual presentation.

OpenAIRE

Thakker, P B; Sharma, A

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.

Respuesta al entrenamiento en EPOC: Diferencia entre limitación por fatiga muscular y por disnea

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Martín Sívori

2011-04-01

Full Text Available Este estudio comparó la respuesta post entrenamiento al ejercicio en pacientes limitados por fatiga muscular (LF vs. disnea (LD. Se incluyeron pacientes con EPOC moderada y grave (definición GOLD, clasificándolos en LF si la respuesta a cicloergometría máxima tenía ≥ 2 puntos en la escala de Borg para fatiga muscular vs. disnea; LD a la inversa. Se realizaron ergometría submáxima, 6 minutos y pruebas de calidad de vida mediante cuestionario. Fueron entrenados 3 veces/semana, 90 min/sesión con ejercicios de fuerza y aeróbicos por 8 semanas, evaluándolos de la misma manera. Fueron estudiados 14 pacientes del grupo LF y 11 del LD. El promedio de edad fue 69 y 66 años respectivamente. Presentaban grave obstrucción bronquial (FEV1: 49%. No existían diferencias basales entre ambos grupos, excepto en el índice masa-corporal (IMC, menor en los LF. Luego del entrenamiento, ambos grupos mejoraron significativamente en variables de ejercicio y calidad de vida, excepto carga máxima en los LD. Comparando ambos grupos, se observó mejor respuesta en los LF en carga máxima (48.7 ± 9.2 vs. 40.04 ± 15.48 watts, p = 0.033, prueba de 6 minutos (505.42 ± 50.75 vs. 454.9 ± 64.3 metros, p = 0.048 y ergometría submáxima (14.57 ± 9.55 vs. 6.71 ± 4.18min, p = 0.025, respectivamente. Como conclusión, los pacientes LF tuvieron mayor respuesta al entrenamiento en ejercicios submáximos y carga máxima, presentando menor IMC. Posiblemente, deberían instrumentarse diferentes estrategias de entrenamiento para diferentes fenotipos de pacientes con EPOC.

Oxidative muscular injury and its relevance to hyperthyroidism.

Science.gov (United States)

Asayama, K; Kato, K

1990-01-01

In experimental hyperthyroidism, acceleration of lipid peroxidation occurs in heart and slow-oxidative muscles, suggesting the contribution of reactive oxygen species to the muscular injury caused by thyroid hormones. This article reviews various models of oxidative muscular injury and considers the relevance of the accompanying metabolic derangements to thyrotoxic myopathy and cardiomyopathy, which are the major complications of hyperthyroidism. The muscular injury models in which reactive oxygen species are supposed to play a role are ischemia/reperfusion syndrome, exercise-induced myopathy, heart and skeletal muscle diseases related to the nutritional deficiency of selenium and vitamin E and related disorders, and genetic muscular dystrophies. These models provide evidence that mitochondrial function and the glutathione-dependent antioxidant system are important for the maintenance of the structural and functional integrity of muscular tissues. Thyroid hormones have a profound effect on mitochondrial oxidative activity, synthesis and degradation of proteins and vitamin E, the sensitivity of the tissues to catecholamine, the differentiation of muscle fibers, and the levels of antioxidant enzymes. The large volume of circumstantial evidence presented here indicates that hyperthyroid muscular tissues undergo several biochemical changes that predispose them to free radical-mediated injury.

Efectos de un programa de entrenamiento funcional en la musculatura core en mujeres con fibromialgia

OpenAIRE

Pinzón, I.D.

2015-01-01

El objetivo de este artículo es evaluar los efectos de un programa de entrenamiento funcional de músculos core dirigido a las mujeres con fibromialgia. Se realizó un ensayo cuasiexperimental de tipo antes y después de una intervención durante 20 semanas, con frecuencia de 3 días/semana y una duración de 60 minutos cada sesión. Los resultados sugieren que el programa de entrenamiento funcional de músculos core es eficaz en el aumento de la fuerza muscular, la modulación del dolor, la optimizac...

Detección de alteraciones numéricas en el gen dys y su asociación con rasgos clínicos Numeric alterations in the dys gene and their association with clinical features

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Alejandra Mampel

2011-04-01

Full Text Available La distrofia muscular de Duchenne/Becker (DMD/B es una miopatía hereditaria grave y progresiva. Se relaciona con alteraciones en el gen DYS, ubicado en el cromosoma X, que codifica para la proteína distrofina. Distintas manifestaciones pueden observarse según el impacto de la alteración genética sobre la proteína. Los registros internacionales de mutaciones refieren una elevada frecuencia (65-70% de deleciones/duplicaciones de uno o más exones del gen DYS. En este trabajo presentamos el estudio de alteraciones numéricas en los 79 exones del gen DYS. El estudio fue realizado en 59 individuos pertenecientes a 31 familias no relacionadas. La metodología utilizada fue Multiplex Ligation Dependent Probe Amplification (MLPA. En los 31 casos independientes se estableció además el score clínico, se realizó el test de Raven y se determinaron los valores de creatininfosfoquinasa (CPK en sangre. Nuestros datos revelan una frecuencia de alteraciones numéricas en el gen DYS del 61.3%, provocando un corrimiento del marco de lectura en el 100% de los casos. Se observó una región con mayor tendencia a presentar alteraciones que involucran un solo exón. La tasa de mutación de novo identificada fue del 35.2%. Se halló, a su vez, una asociación significativa entre afectados con alteraciones numéricas y valores del test de Raven de bajo rendimiento. Estos resultados aportan datos a los conocimientos regionales sobre las alteraciones genéticas y su impacto fenotípico en la enfermedad de Duchenne/Becker.The Duchen ne/Becker muscular dystrophy is a hereditary miopathy with a recessive sex-linked pattern. The related gene is called DYS and the coded protein plays a crucial role in the anchorage between the cytoskeleton and the cellular membrane in muscle cells. Different clinical manifestations are observed depending on the impact of the genetic alteration on the protein. The global register of mutations reveals an enhanced frequency for

Muscular Dystrophy (MD)

Science.gov (United States)

... patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities. View Full Treatment Information Definition The muscular dystrophies (MD) are a group of more than 30 ...

Modelamiento de la marcha humana con prótesis de miembro inferior mediante herramientas de simulación dinámica (“una aplicación en opensim”)

OpenAIRE

Silva Castellanos, Christian Augusto

2015-01-01

Se presenta el proceso que se siguió para simular la marcha de un paciente con amputación transfemoral mediante la captura de movimiento en un laboratorio de marcha y su correspondiente simulación con el software OpenSim de la Universidad de Stanford, con el cual se pudo simular la cinemática inversa, fuerzas de reacción tridimensional y activaciones musculares del mismo en contraste con los datos capturados de un paciente con marcha normal, para así identificar las contribuciones de la prót...

Respiratory function in facioscapulohumeral muscular dystrophy 1

NARCIS (Netherlands)

Wohlgemuth, M.; Horlings, G.C.; Kooi, E.L. van der; Gilhuis, H.J.; Hendriks, J.C.M.; Maarel, S.M. van der; Engelen, B.G.M. van; Heijdra, Y.F.; Padberg, G.W.A.M.

2017-01-01

To test the hypothesis that wheelchair dependency and (kypho-)scoliosis are risk factors for developing respiratory insufficiency in facioscapulohumeral muscular dystrophy, we examined 81 patients with facioscapulohumeral muscular dystrophy 1 of varying degrees of severity ranging from ambulatory

[Human myopathy and animal muscular dystrophy].

Science.gov (United States)

Schapira, G; Dreyfus, J C; Schapira, F

1977-08-01

Two hereditary muscular dystrophies similar to human progressive muscular dystrophy (P.M.D. Duchenne type) have been isolated in animals, one in mouse, the other in chicken. The decrease in the activity of glycogenolytic enzymes is similar to that observed in denervated muscle. Isozymic fetal types for several muscular enzymes have been observed as well in chicken as in man, but this fetal type may also be found in neurogenic atrophy. The release in circulation of muscle enzymes seems more specific. But the origin of the genetic lesion is still unknown. We describe here the three different theories about this problem: i.e. neurogenic, vascular, or myogenic. This last theory implies a trouble of membrane permeability.

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

Science.gov (United States)

Liew, Wendy K. M.

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 areas of research raise the potential for novel therapies in these two disorders, offering hope for improved quality of life and life expectancy for affected individuals. PMID:23634188

Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.

Science.gov (United States)

Hightower, Rylie M; Alexander, Matthew S

2018-01-01

Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and overall reduced cost have led to the identification of genetic modifiers that are responsible for phenotypic variability in affected patients. These genetic modifiers have been postulated to explain key differences in disease phenotypes, including age of loss of ambulation, steroid responsiveness, and the presence or absence of cardiac defects in patients with the same form of muscular dystrophy. This review highlights recent findings on genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies based on animal and clinical studies. These genetic modifiers hold great promise to be developed into novel therapeutic targets for the treatment of muscular dystrophies. Muscle Nerve 57: 6-15, 2018. © 2017 Wiley Periodicals, Inc.

Influencia del tipo de ejercicios de fuerza excéntrica en la prevención de lesiones musculares de bíceps femoral en futbolistas profesionales. Proyecto de investigación

OpenAIRE

Llurda Almuzara, Luis

2017-01-01

PREGUNTA DE INVESTIGACIÓN ¿Es más efectiva la prevención de lesiones musculares de bíceps femoral mediante ejercicios que se asemejen al mecanismo lesional en comparación con ejercicios que no tengan en cuenta este aspecto en futbolistas profesionales? OBJETIVOS El objetivo general de este proyecto de investigación es valorar si la elección de unos ejercicios u otros influye o no en el número de lesiones musculares de bíceps femoral registradas durante una temporada en futbolistas pr...

Efectos de la suplementación con ß-alanina en tests de Wingate en jugadoras universitarias de fútbol femenino

OpenAIRE

Rodríguez Rodríguez, Fernando; Delgado Ormeño, Alex; Rivera Lobos, Patricio; Tapia Aranda, Víctor; Cristi-Montero, Carlos

2015-01-01

Introducción: El fútbol es un deporte intermitente que desarrolla acciones de alta intensidad usando la vía anaeróbica, por tal razón, la fatiga muscular se produciría principalmente por el aumento de la acidosis. La carnosina, la cual se forma a partir de L-histidina y ß-alanina, ha demostrado producir un efecto "Tampón" sobre la acidosis muscular. Objetivo: Determinar el efecto de la suplementación con ß-alanina, en tres pruebas de Wingate sucesivas, y comparar la potencia media, máxima y e...

BEEF CATTLE MUSCULARITY CANDIDATE GENES

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Irida Novianti

2010-04-01

Full Text Available Muscularity is a potential indicator for the selection of more productive cattle. Mapping quantitative trait loci (QTL for traits related to muscularity is useful to identify the genomic regions where the genes affecting muscularity reside. QTL analysis from a Limousin-Jersey double backcross herd was conducted using QTL Express software with cohort and breed as the fixed effects. Nine QTL suggested to have an association with muscularity were identified on cattle chromosomes BTA 1, 2, 3, 4, 5, 8, 12, 14 and 17. The myostatin gene is located at the centromeric end of chromosome 2 and not surprisingly, the Limousin myostatin F94L variant accounted for the QTL on BTA2. However, when the myostatin F94L genotype was included as an additional fixed effect, the QTL on BTA17 was also no longer significant. This result suggests that there may be gene(s that have epistatic effects with myostatin located on cattle chromosome 17. Based on the position of the QTL in base pairs, all the genes that reside in the region were determined using the Ensembl data base (www.ensembl.org. There were two potential candidate genes residing within these QTL regions were selected. They were Smad nuclear interacting protein 1 (SNIP1 and similar to follistatin-like 5 (FSTL5. (JIIPB 2010 Vol 20 No 1: 1-10

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)....

“CAMBIOS EN LAS FIBRAS DEL MÚSCULO ESQUELÉTICO INDUCIDOS POR GLUCOCORTICOIDES Y SU RELACIÓN CON LOS NIVELES DE EXPRESIÓN DEL GEN MSTN EN RATAS”.

OpenAIRE

Ortiz Tinoco, Vinicio

2012-01-01

Los glucocorticoides (GC) son utilizados ampliamente en la medicina humana y veterinaria, como potentes antiinflamatorios e inmunosupresores, sin embargo su uso se ha asociado con atrofia muscular. Los GC son una amplia familia de compuestos con un núcleo estructural común pero con diferentes grupos sustituyentes o funcionales. Los efectos farmacológicos de los GC resultan de la activación y/o represión de la expresión génica al interactuar con elementos de respuestas a GC (...

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, Marianne

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

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

NARCIS (Netherlands)

Hoogerwaard, E. M.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; Leschot, N. J.; van Essen, A. J.; Brunner, H. G.; van der Wouw, P. A.; Wilde, A. A.; 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

Insuficiencia renal aguda con necrosis tubular aguda secundaria a picadura masiva de abejas

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Gustavo A. Aroca - Martínez

2006-01-01

Full Text Available Leñador de 46 años consulta al servicio de nefrología, de la Clínica Renal de la Costa en Barranquilla, con episodio de insuficiencia renal aguda 48 horas después de haber sufrido múltiples picaduras por abejas africanizadas. Durante su estancia hospitalaria presentó incremento de enzimas musculares (AST LDH, y de pruebas de función renal, motivo por el cual fue dializado en varias ocasiones. Con mejoría total, se decide egresar y manejar ambulatoriamente. Se concluye que el caso se trata de una insuficiencia renal por necrosis tubular aguda por rabdomiolisis debida a la picadura múltiple de abejas africanizadas.

Densidad mineral ósea y adecuación de la dieta en pacientes con enfermedad renal crónica en hemodiálisis

OpenAIRE

Fernando Carrasco; Marcelo Cano; Jean Camousseigt; Pamela Rojas; Jorge Inostroza; Rubén Torres

2013-01-01

Introducción: La desnutrición es común en la enfermedad renal crónica (ERC), junto a una menor masa muscular y densidad mineral ósea (DMO), aumentando el riesgo de morbilidad. Objetivo: Comparar la composición corporal (CC), DMO y el contenido mineral óseo (CMO) entre pacientes con ERC y sujetos sanos, relacionándolos con ingesta energética, de macro y micronutrientes. Métodos: Se evaluó CC en 30 pacientes en hemodiálisis y 28 voluntarios sanos con DEXA. Los pacientes llenaron tres registros ...

Terapia gênica em distrofias hereditárias de retina Gene therapy for inherited retinal dystrophies

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Monique Côco

2009-08-01

Full Text Available As distrofias hereditárias de retina abrangem um amplo número de doenças caracterizadas por lenta e progressiva degeneração da retina. São o resultado de mutações em genes expressos em fotorreceptores e no epitélio pigmentado da retina. A herança pode ser autossômica dominante, autossômica recessiva, ligada ao X recessiva, digênica ou herança mitocondrial. Atualmente não há tratamento para essas doenças e os pacientes convivem com a perda progressiva da visão. O aconselhamento genético e o suporte para reabilitação têm indicação nestes casos. Pesquisas envolvendo a base molecular e genética dessas doenças está continuamente em expansão e ampliam as perspectivas para novas formas de tratamento. Dessa forma, a terapia gênica, que consiste na inserção de material genético exógeno em células de um indivíduo com finalidade terapêutica, tem sido a principal forma de tratamento para as distrofias hereditárias de retina. O olho é um órgão peculiar para a terapia gênica, pois é anatomicamente dividido em compartimentos, imunologicamente privilegiado e com meios transparentes. A maioria das doenças oculares tem defeitos em genes conhecidos. Além disso, há modelo animal bem caracterizado para algumas condições. Propostas para pesquisa clínica em terapia gênica nas degenerações retinianas hereditárias com defeito no gene RPE65, recentemente tiveram aprovação ética e os resultados preliminares obtidos trouxeram grandes expectativas na melhora da qualidade de vida dos pacientes.The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells or the retinal pigment epithelium. The mode of inheritance can be autosomal dominant, autosomal recessive, X linked recessive, digenic or mitochondrial DNA inherited. At the moment, there is no treatment for these

Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy.

Science.gov (United States)

Lager, Christina; Kroksmark, Anna-Karin

2015-09-01

The purpose of this study was to explore the prevalence, nature and scope of pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy and whether the pain differs between diagnostic groups or between adolescents with different ambulation status. Furthermore to study the consequences of pain and to identify pain-exacerbating and pain-relieving factors. In a national survey, fifty-five adolescents with spinal muscular atrophy and dystrophinopathy completed a questionnaire assessing pain frequency, duration, location using a body map, intensity and discomfort using visual analogue scales, pain interference using a modified version of Brief Pain Inventory and factors exacerbating and relieving pain. Sixty-nine per cent of the adolescents reported pain during the past three months and 50% reported chronic pain. The pain prevalence did not differ significantly between diagnostic groups or between ambulators and non-ambulators. The average pain intensity was graded as mild and the worst pain as moderate. The pain typically occurred weekly, most frequently in the neck/back or legs. General activity and mood were the areas that were most affected by pain. Common pain-exacerbating factors were sitting, too much movement/activity and being lifted or transferred. Pain is a frequent problem in adolescents with spinal muscular atrophy and dystrophinopathy. The assessments used enable an understanding both of the nature and scope of pain and of the impact of pain in everyday life. The study highlights the importance of assessing pain in a systematic manner and offering an individual approach to interventions designed to reduce pain in this population. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Enfermedad de Kennedy en el Perú: Primeros casos con diagnóstico molecular

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Víctor Gómez-Calero

Full Text Available La enfermedad de Kennedy es un trastorno neurodegenerativo de herencia recesiva ligada al cromosoma X, de inicio en la adultez, caracterizado por degeneración progresiva de las neuronas motoras espinales, debido a una mutación dinámica del gen del receptor de andrógeno. Se presentan tres familias (cinco casos con temblor, calambres, debilidad muscular generalizada lentamente progresiva con atrofia, afectación de músculos bulbares y alteraciones endocrinas. El estudio neurofisiológico demostró compromiso de segunda motoneurona. El análisis molecular mostró una expansión anormal de tripletes citosina-adenina-guanina en el gen de receptor de andrógeno en todos los casos. Todos los pacientes cursaron con una presentación clínica típica de la enfermedad siendo los primeros casos de enfermedad de Kennedy con diagnóstico molecular realizado en el Perú.

Clinico-epidemiologic characteristics of spinal muscular atrophy ...

African Journals Online (AJOL)

Rabah M. Shawky

Deletion;. Chromosome 5;. Mutations. Abstract Spinal muscular atrophy (SMA) is characterized by progressive hypotonia and muscular weakness because of progressive degeneration of alpha motor neuron from anterior horn cells in the spinal cord. It is inherited by an autosomal recessive pattern. The precise frequency of ...

Preimplantation genetic diagnosis of spinal muscular atrophy

NARCIS (Netherlands)

Dreesen, JCFM; Bras, M; de Die-Smulders, C; Dumoulin, JCM; Cobben, JM; Evers, JLH; Smeets, HJM; Geraedts, JPM

After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly

Caracterización molecular de las formas precoces de distrofia de retina recesivas y esporádicas en población española: amaurosis congénita de Leber y Retinosis pigmentaria de inicio precoz

OpenAIRE

Tatu, Sorina Daniela

2016-01-01

Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Ciencias, Departamento de Biología Molecular. Fecha de lectura: 27-01-2016 Esta tesis tiene embargado el acceso al texto completo hasta 27-07-2017 Las distrofias hereditarias de la retina (DR) son un conjunto de trastornos que se producen por una degeneración primaria y progresiva de fotorreceptores. Entre ellas, la amaurosis congénita de Leber (LCA) representa la forma más precoz y severa, ocasionando ...

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...

ANÁLISIS BIOMECÁNICO PARA DETERMINAR LA INTERVENCIÓN MUSCULAR EN LOS ESTIRAMIENTOS BALÍSTICOS

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K. Gianikellis

2010-09-01

Full Text Available

RESUMEN

La movilidad en las articulaciones es una ventaja para la optimización de la técnica deportiva. El objetivo de este trabajo ha sido indagar en las relaciones causa – efecto entre la velocidad y la aceleración angular del tronco, segmento con masa considerable, y el nivel de tensión de los músculos vasto interno, recto femoral y bíceps crural durante un ejercicio de estiramiento balístico. En este sentido, se ha utilizado una cadena de medida, integrada por un sistema de Electrogoniometría (ELG sincronizado con un sistema de Electromiografía (EMG diseñado para ser usado en la detección de la actividad eléctrica de los músculos bajo estudio en relación con los ángulos en las articulaciones. Los resultados obtenidos han confirmado que se trata de una metodología fiable para estudiar el comportamiento fisiológico y funcional de una unidad biocinemática y profundizar en el estudio del comportamiento del sistema neuro – muscular en el análisis biomecánico de la motricidad humana.
PALABRAS CLAVE: análisis biomecánico, intervención muscular, estiramientos balísticos.

ABSTRACT

The aim of stretching exercises is to increase muscle-tendon flexibility which depends on neurogenics (stretch reflex, myogenics (viscoelasticity of the musculo-tendinous structures and joint constraints. The main purpose of this study was to determine the intervention of the muscles quadriceps femoris (rectus femoris - vastus medialis and biceps femoris and its relationship with the kinematics of the hip joint during a common ballistic stretching exercise. Kinematic data of the hip joint and EMGraphic data of the muscles quadriceps femoris (rectus femoris

Facioscapulohumeral muscular dystrophy

Science.gov (United States)

... There is no known cure for facioscapulohumeral muscular dystrophy. Treatments are given to control symptoms and improve quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse. Physical therapy may help maintain muscle ...

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

Science.gov (United States)

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

2016-01-01

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

Síndrome de Steinert no âmbito da Medicina Dentária

OpenAIRE

Baptista, Helena Marisa Gonçalves

2015-01-01

Projeto de Pós-Graduação/Dissertação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Medicina Dentária A síndrome de Steinert, ou distrofia miotónica tipo 1, é uma patologia resultante de mutações genéticas, caracterizada por miotonia e por apresentar um quadro clínico multisistémico que afeta vários tecidos do corpo humano, incluindo os músculos, provocando fenótipos de fraqueza, debilidade muscular e redução da força do músculo. Des...

Associação de miopatia com ataxia e piramidalismo: estudo de dois irmãos

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Newra Tellechea Rotta

1974-09-01

Full Text Available São estudados os casos de dois irmãos examinados em Serviço de Neurologia Infantil por apresentarem dificuldade para manter o equilíbrio estático e dinâmico. Ao exame foi assinalado déficit estrutural, deficiência mental, distrofia muscular, síndrome piramidal e síndrome cerebelar. Os casos foram estudados do ponto de vista clínico, laboratorial, radiológico, eletromiográfico, psicológico e genético. É feita a discussão diagnóstica considerando miopatia autossômica recessiva da cintura pélvica e miopatia ocular associada a ataxia.

Estruturas elásticas e fadiga muscular

OpenAIRE

Kronbauer, Gláucia Andreza; Castro, Flávio Antônio de Souza

2013-01-01

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 - mecanism...

Experimental investigation of muscular neurotization in the rat.

Science.gov (United States)

Must, R

1987-01-01

Reinnervation of a free muscle graft by nerves from an adjacent intact muscle is called muscular neurotization. This paper investigates the mechanisms and stimuli responsible for muscular neurotization in the rat. Sternohyoid or sternomastoid muscles were transplanted as free muscle grafts to the ventral surface of an intact sternohyoid muscle (feeder muscle). After several weeks the graft and underlying feeder muscle were removed together, frozen, serially sectioned, stained, and carefully examined for the presence or absence of nerves. It was concluded from a series of experiments that in this model muscular neurotization is a form of nerve regeneration. In order for muscular neurotization to occur, it is necessary to have (1) injury to the nerves of the intact feeder muscle and (2) a pathway upon which the regenerating nerves may grow into the graft.

Metabolismo muscular en el ejercicio

OpenAIRE

Martín Martín, Laura

2017-01-01

Fundamentos: Cada vez son más las personas que realizan algún tipo de actividad física, pero pocas son las que poseen un verdadero conocimiento de los procesos que se desencadenan a nivel muscular y la influencia de la alimentación en la misma. El objetivo de este trabajo es ofrecer información de manera general sobre el metabolismo muscular. Métodos: Revisión bibliográfica de artículos y documentos consultando bases de datos y libros. La mayor parte del análisis ha sido ext...

Evaluación diagnóstica de la Dismorfia Muscular: una revisión sistemática

OpenAIRE

Lopez-Cuautle, Camilo; Vazquez-Arevalo, Rosalia; Mancilla-Diaz, Juan Manuel

2016-01-01

El objetivo de este estudio fue examinar las investigaciones realizadas sobre la evaluación diagnóstica de la Dismorfia Muscular (DM). Se realizó una búsqueda sistemática en las bases PsycINFO y Medline de 1997 a 2012, los descriptores fueron: "muscle dysmorphic disorder" "vigorexia" y "male". 17 estudios cumplieron los criterios de inclusión, de éstos, todos utilizaron los criterios diagnósticos propuestos por Pope et al. (1997). Aquellos con DM están preocupados por el tamaño corporal, leva...

Resultados de un programa de ejercicio físico combinado con electroestimulación neuromuscular en pacientes en hemodiálisis

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Anna Junque Jiménez

Full Text Available Los pacientes en hemodiálisis presentan una importante disminución de la condición física y la capacidad funcional. Ampliamente son conocidos los numerosos beneficios del ejercicio físico en los pacientes con insuficiencia renal en éstos aspectos. Hasta la fecha, existe mínima experiencia con la electroestimulación neuromuscular en los pacientes en hemodiálisis. Objetivos: 1. Analizar el efecto de un programa de entrenamiento físico intradiálisis combinado con electroestimulación neuromuscular sobre la fuerza muscular y la capacidad funcional en nuestros pacientes en hemodiálisis. 2. Analizar la seguridad, eficacia y tolerancia de la electroestimulación neuromuscular en nuestros pacientes en hemodiálisis. Métodos: Los pacientes en hemodiálisis realizaron un programa completo de entrenamiento físico mediante balones medicinales, pesas, bandas elásticas y cicloergómetros combinado con electroestimulación neuromuscular en las primeras dos horas de hemodiálisis durante 12 semanas en un estudio prospectivo unicéntrico. La electroestimulación se realizó en ambos cuádriceps usando el Compex® Theta 500i. Principales datos analizados: 1. Fuerza extensión máxima cuádriceps (FEMQ y "handgrip" brazo dominante (HG. 2. Test funcionales:"Sit to stand to sit" (STS10 y "six-minutes walking test" (6MWT. 3. Escala Visual Analógica (EVA y cuestionario propio de electroestimulación neuromuscular (QE. Resultados: 11 pacientes incluidos (55% mujeres. Edad media 67.6 años y 62.3 meses en hemodiálisis. Se observó una mejoría significativa (*p<0.05 en la FEMQ*(13.7±8.1 vs 16.2±10.9kg, HG*(23.8±15.9 vs 25.1±15.9kg, STS10*(24.6±13.4 vs 20.1±10.1 seg y 6MWT*(21%,332.6 vs 402.7 m. No observamos dolor muscular, rampas, hormigueos o calambres musculares relevantes en el cuestionario propio de electroestimulación. El grado medio de satisfacción (EVA fue 9.4 puntos. Conclusiones: 1. El programa de entrenamiento físico intradi

Influencia de la masa corporal y de la distribución grasa sobre la fuerza muscular de una cohorte de población anciana: Diferencias por sexo

OpenAIRE

Castillo Gallego, Carmen

2015-01-01

Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Medicina, Departamento de Medicina. Fecha de lectura 18-09-2015 Objetivo: La grasa visceral tiene una alta actividad metabólica con efectos deletéreos para la salud. Entre los efectos adversos contra la salud está el aumento del riesgo de fragilidad. Una parte importante de la fragilidad en el anciano es la sarcopenia o pérdida de masa y de fuerza muscular que se produce con la edad. En esta tesis do...

Estudio sobre el estado nutricional, calidad de vida, y capacidad funcional en pacientes con fibromialgia. Estudio ENCAVI

OpenAIRE

Arranz, Laura Isabel

2012-01-01

[spa] La fibromialgia es una enfermedad reumática, clasificada con el código OMS CIE-10- M79.7 (versión 2007), de carácter crónico que causa dolor muscular generalizado, rigidez, fatiga, alteraciones del sueño y trastornos cognitivos entre otros síntomas. La prevalencia en España está alrededor del 2.4%, aunque algunos estudios han situado esta cifra entorno al 4%, siendo las mujeres las que más la padecen, con gran diferencia respecto a los hombres. La fibromialgia, además, se presenta frecu...

Positive effects on bone mineralisation and muscular fitness after 10 months of intense school-based physical training for children aged 8–10 years: the FIT FIRST randomised controlled trial

DEFF Research Database (Denmark)

Larsen, Malte Nejst; Nielsen, Claus Malta; Helge, Eva Wulff

2018-01-01

mineral density (aBMD), bone mineral content (BMC) and lean body mass (LBM). Flamingo balance, standing long jump and 20-m sprint tests were used to determine muscular fitness. Results Analysis of baseline-to-10 months change scores showed between-group differences in favour of the interventions in whole...... vs CST: 12 mg/cm2, 95%CI 3 to 21, ppostural balance (SSG vs CON: 2.4 fewer falls/min, 95% CI 0.3 to 4.5, CST vs CON: 3...

Metales pesados en tejido muscular del bagre Ariopsis felis en el sur del golfo de México (2001-2004 Heavy metals in muscular tissue of the catfish, Ariopsis felis, in the southern Gulfof México (2001-2004

Directory of Open Access Journals (Sweden)

Felipe Vázquez

2008-01-01

Full Text Available Se analizó el contenido de metales pesados en tejido muscular del bagre, Ariopsis felis en el sur del golfo de México durante el período 2001-2004. La investigación fue efectuada buscando establecer un marco de referencia ambiental para este organismo. La concentración metálica siguió el orden: Hg We analyzed the heavy metal content in the muscular tissue of the catfish, Ariopsis felis, in the southern Gulf of México between 2001 and 2004. The research was done in order to establish an environmental frame of reference for this organism. The metal concentration was as follows: Hg < Co < Pb < Ni < V < Cr. Cobalt and vanadium contents were found to decrease and those of nickel, mercury, and chromium to ulerease; however, neither of these trends was observed for the lead content. One-way analyses of variance con-firm significant temporal variation only for cobalt, mercury, lead, and vanadium. Significant linear correlation coefficients (p ≤ 0.05 were found for Co-V, Cr-Ni, Cr-Pb, Co-Hg, Ni-V, and V-Pb. The first three associa-tions showed positive correlations, whereas the remaining ones had negative correlations. A factor analysis grouped the studied metals depending on their origins. The metal levels found in the muscular tissue of A. felis from the southern Gulf of México were lower than those set by national and international regulations.

The effects of progressive muscular relaxation as a nursing procedure used for those who suffer from stress due to multiple sclerosis.

Science.gov (United States)

Novais, Paolla Gabrielle Nascimento; Batista, Karla de Melo; Grazziano, Eliane da Silva; Amorim, Maria Helena Costa

2016-09-01

to evaluate the effect of progressive muscle relaxation as a nursing procedure on the levels of stress for sufferers of multiple sclerosis. random clinical trials conducted at the Neurology outpatients unit at a University Hospital. The sample consisted of 40 patients who were being monitored as outpatients (20 in a control group and 20 in an experimental group). The Progressive Muscle Relaxation technique was used. The control variables were collected through interviews that were recorded on forms and on the Perceived Stress Scale that we used. Five meetings were held every fortnight covering a period of eight weeks. The experimental group was advised to carry out daily progressive muscle relaxation activities. After eight weeks of these activities, they were evaluated again to measure their levels of stress. In order to analyze the data used, the software package Statistics for Social Sciences version 19.0 was used. the application of the t test showed a significant reduction in the Perceived Stress Scale scores in the experimental group (pencontros quinzenais em um período de oito semanas. O grupo experimental foi orientado a realizar diariamente o Relaxamento Muscular Progressivo. Após oito semanas de intervenção avaliou-se novamente os níveis de estresse. Para análise dos dados foi utilizado o pacote Estatístico para Ciências Sociais-versão 19.0. a aplicação do Teste t demonstrou uma diminuição significante dos escores da Escala de Stress Percebido no grupo experimental (p<0,001), evidenciando diminuição nos níveis de estresse após a prática do relaxamento. a intervenção Relaxamento Muscular Progressivo contribui para redução dos níveis de estresse em pessoas com Esclerose Múltipla, podendo ser incluída como prática na assistência de enfermagem prestada a esses pacientes. NCT 02673827. evaluar el efecto del Relajamiento Muscular Progresivo, como intervención de Enfermería en los niveles de estrés en personas con Esclerosis

Roentgenological findings in muscular alterations of extremities

International Nuclear Information System (INIS)

Palvoelgyi, R.

1978-01-01

A survey of roentgenological findings in muscular alterations of extremities based on the author's experiences and on the literature is presented. Following a description of the normal roentgen anatomy, the alterations in different diseases of interstitial lipomatosis are demonstrated. By roentgenological examinations differt muscular lesions of the extremities can be differentiated and the clinical follow-up verified. (orig.) [de

Becker muscular dystrophy-like myopathy regarded as so-called "fatty muscular dystrophy" in a pig: a case report and its diagnostic method.

Science.gov (United States)

Horiuchi, Noriyuki; Aihara, Naoyuki; Mizutani, Hiroshi; Kousaka, Shinichi; Nagafuchi, Tsuneyuki; Ochiai, Mariko; Ochiai, Kazuhiko; Kobayashi, Yoshiyasu; Furuoka, Hidefumi; Asai, Tetsuo; Oishi, Koji

2014-03-01

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 fat infiltrations and considered so-called "fatty muscular dystrophy". Microscopic examination revealed following characteristics: diffused fat infiltration into the skeletal muscle and degeneration and regeneration of the remaining skeletal muscle fibers. Any lesions that were suspected of neurogenic atrophy, traumatic muscular degeneration, glycogen storage disease or other porcine muscular disorders were not observed. The immunostaining for dystrophin was conducted and confirmed to be applicable on FFPE porcine muscular tissues and revealed diminished stainability of dystrophin at the sarcolemma in the present case. Based on the histological observations and immunostaining results, the present case was diagnosed with BMD-like myopathy associated with dystrophin abnormality in a pig. Although the genetic properties were not clear, the present BMD-like myopathy implied the occurrence of dystrophinopathy in pigs. To the best of our knowledge, this is the first report of a natural case of myopathy associated with dystrophin abnormalities in a pig.

Amplitude e cadência do passo e componentes da aptidão muscular em idosos: um estudo correlacional multivariado Amplitud y cadencia del paso y componentes de la capacidad muscular en personas de edad avanzada: un estudio correlativo multivariado A multivariate analysis of the correlation between step length-pacing and muscular fitness components in elder subjects

Directory of Open Access Journals (Sweden)

Paulo de Tarso Veras Farinatti

2004-10-01

Full Text Available O estudo teve por objetivo verificar a associação de amplitude e cadência do passo com componentes da aptidão muscular (CAM (flexibilidade, força e resistência muscular de membros inferiores, em 25 mulheres de 60 a 86 anos de idade (média = 79 ± 7 anos, fisicamente independentes e cujas condições clínicas não contra-indicassem a realização dos testes propostos. As seguintes variáveis foram estudadas: a amplitude e cadência do passo (AMP e CAP; b peso, estatura e altura sentada em um banco com medida padronizada (44cm; c marcha estacionária de dois minutos (número de repetições (RESISR; d força máxima relativa de extensão de joelhos (carga/peso corporal (FORCAR; e flexibilidade de tornozelo e quadril (graus (FLEXT e FLEXQ. A AMP e CAP foram comparadas com as variáveis dos CAM por meio de técnicas de correlação simples e multivariada. Os resultados indicaram que: a AMP e CAP associaram-se significativamente com o conjunto das variáveis de força e flexibilidade, conforme sugerido pela boa correlação canônica (r can = 0,79; p Este estudio tiene por objetivo verificar la asociación entre la amplitud y cadencia del paso y los componentes de la capacidad muscular (CAM (flexibilidad, fuerza y resistencia muscular de miembros inferiores, en 25 mujeres de 60 a 86 años de edad (promedio = 79 ± 7 anos, físicamente independientes y cuyas condiciones clínicas no impusieron restricciones a la realización de las pruebas sugeridas. Se estudiaron las siguientes variables: a amplitud y cadencia del paso (AMP y CAP; b peso, estatura y altura sentada en un banco con medida estandarizada (44cm; c marcha estacionaria de dos minutos (número de repeticiones (RESISR; d fuerza máxima relativa de extensión de las rodillas (carga / peso corporal (FORCAR; e flexibilidad del tobillo y cuadril (grados (FLEXT y FLEXQ. La AMP y CAP se compararon a las variables de los CAM por medio de técnicas de correlación simple y multivariada. Los

Mamoplastia de aumento dinámica con control de vectores

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R.A. Vallarta-Rodríguez

2014-12-01

Full Text Available La mamoplastia de aumento debe ser una cirugía segura, predecible, duradera, que mantenga la forma natural de las mamas, preserve la sensibilidad del complejo areola-pezón, no altere la lactancia, con mínima reacción al implante colocado, y que no interfiera con los estudios imagenológicos. Cuando las mamas presentan alguna deformidad asociada tipo ptosis, mamas tuberosas, etc, el emplear una combinación de técnicas brinda un mejor resultado final en comparación con el empleo de un procedimiento de aumento puro. Presentamos la técnica quirúrgica que empleamos desde el 2003 que a nuestro juicio cumple con todos estos objetivos y puede utilizarse para aumento mamario en pacientes con ptosis leve o moderada. Describimos la técnica con detalle y discutimos las indicaciones y ventajas de incorporar estos refinamientos técnicos a la mamoplastia de aumento convencional. Recogemos 230 casos en los que se realizó mamoplastia de aumento multiplanar con disección muscular ampliada en bloque, optimizando vectores independientes para reposicionar el complejo areola-pezón en su posición ideal en casos de ptosis asociada. Agregamos puntos de anclaje percutáneos en 98 pacientes para conseguir este efecto. No hemos tenido complicaciones mayores, más allá de pequeñas dehiscencias superficiales de las heridas en 18 casos que se corrigieron con tratamiento expectante sin dejar secuelas. Con esta técnica intentamos aportar una opción más al cirujano plástico para ofrecer un resultado natural y duradero a las pacientes que se someten a mamoplastia de aumento.

Grado de acuerdo entre los índices adiposo-musculares obtenidos a partir de medidas antropométricas del brazo, pliegues cutáneos e impedancia bioeléctrica Interchangeability of the fat-to-fat-free mass ratios obtained by arm anthropometric measures, skinfold thickness and bioelectrical impedance

OpenAIRE

V. Martín Moreno; J. Benito Gómez Gandoy; M. de Oya Otero; Agustín Gómez de la Cámara; M.ª J. Antoranz González

2003-01-01

Objetivo: La masa grasa, la masa libre de grasa y la relación entre ambas, el índice adiposo-muscular, son parámetros útiles para valorar clínicamente al paciente. El objetivo de este estudio es medir el grado de acuerdo entre los índices adiposo-musculares corporales (IAMC) obtenidos mediante los pliegues cutáneos con la ecuación de Siri para cuatro pliegues (IAMC Siri) y para el pliegue del tríceps (IAMCtríceps); por bioimpedanciometría (IAMC Omron); y mediante las áreas adiposa y muscular ...

[Supplementary device for a dynamometer to evaluate and register muscular endurance indices].

Science.gov (United States)

Timoshenko, D A; Bokser, O Ia

1986-01-01

In practice of psychophysiologic research muscular endurance index is used for estimation of CNS function. Muscular endurance index is defined as relative time needed for maintaining the preset muscular effort. The described device widens the possibilities of a digital dynamometer for automatic estimation and recording of muscular endurance index in real time.

Muscular pathology: echographic and NMR imaging aspects

International Nuclear Information System (INIS)

Pascal-Suisse, P.; Beaurain, P.; Mougniot, C.

1995-01-01

A comparison of echographic techniques and NMR imaging has been done for the diagnosis of muscular trauma and tumor pathologies. In traumatic pathology, the echographic analysis allows to determine the complete assessment of recent muscular injuries. NMR imaging can be used in granuloma or fibrous callosity appreciation and for the analysis of deep injury (muscles and muscles-tendon junctions) and of muscular aponeurosis. Echography must be used together with color coding Doppler technique in the diagnosis of tumor pathology and for the study of slow fluxes. The recently available energy Doppler technique seems to be powerful in the study of vascularization of small expansive formations, but their extension to adjacent bone or tissue can only be appreciated using NMR imaging. (J.S.)

La inmunización con productos de excreción-secreción de Trichinella spiralis unido al bloqueo de CTLA-4 produce un elevado grado de protección ante un reto con el parásito

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José Lino Zumaquero-Ríos

2017-04-01

Full Text Available En la búsqueda de una vacuna experimental efectiva contra Trichinella spiralis se han utilizado diferentes estrategias, pero el grado de protección alcanzado en la casi totalidad de los ensayos es insuficiente para lograr un adecuado control de la enfermedad. En la literatura hay evidencias de que moléculas inhibidoras de la activación de los linfocitos T están implicadas en la regulación de la respuesta inmune contra los helmintos. El bloqueo de estas moléculas puede ser un blanco potencial para el tratamiento de las infecciones causadas por estos parásitos. Por otra parte, se ha informado que la inmunización con productos de excreción-secreción de larvas musculares de T. spiralis proporciona una inmunidad protectora parcial. La infección con el parásito induce una elevada población de linfocitos T reguladores que modulan la respuesta inmune. En este trabajo encontramos que la inmunización con antígenos de excreción-secreción de larvas musculares, más el bloqueo de la molécula inhibidora CTLA-4 en los linfocitos T, causa una significativa reducción de las larvas del parásito en un modelo experimental murino. De esta forma, queda demostrado que la eliminación del efecto supresor inducido por el helminto da por resultado una respuesta Th2 protectora más potente.

Is drive for muscularity related to body checking behaviors in men athletes?

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Leonardo de Sousa Fortes

Full Text Available Abstract The aim of this study was to analyze the relationship between drive for muscularity and body checking behaviors in men athletes. Two hundred and twelve Brazilian athletes over 15 years of age participated. We used the Drive for Muscularity Scale (DMS to evaluate the drive for muscularity. The Male Body Checking Questionnaire was used to assess body checking behaviors. The findings demonstrated a relationship between the "body image-oriented muscularity" subscale of the DMS and body checking behaviors (p = 0.001. The results indicated differences in body checking among athletes with high and low levels of drive for muscularity. We concluded that drive for muscularity was related to body checking behaviors in men athletes.

Distrofia retiniana com onda rápida escotópica (DRORE associada à síndrome dos cabelos anágenos frouxos (SCAF. Parte II: Genética Scotopic fast wave retinal dystrophy (SFWRD associated with loose anagen hair syndrome (LAHS. Part II: Genetics

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Mário Teruo Sato

2004-08-01

Full Text Available OBJETIVOS: Propor complementação da atual classificação do eletrorretinograma (ERG com a inclusão deste novo tipo de onda, discutir os possíveis mecanismos para a distrofia retiniana com onda rápida escotópica (DRORE associada à síndrome dos cabelos anágenos frouxos (SCAF e análise do heredograma da família estudada. MÉTODO: Foram descritos na parte I deste trabalho. RESULTADOS: A análise do heredograma da família demonstrou tratar-se de herança autossômica recessiva com expressão parcial no heterozigoto; outros resultados foram descritos na parte I deste trabalho. CONCLUSÕES: Por se tratar do primeiro relato na literatura, os achados descritos sugerem fortemente que a distrofia retiniana com onda rápida escotópica associada à síndrome dos cabelos anágenos frouxos pode ser uma nova entidade nosológica. Neste trabalho propomos uma classificação inédita de todas as distrofias maculares e degenerações retinianas associadas a distúrbios capilares no grupo B das displasias ectodérmicas.PURPOSE: To propose the complementation of present classification of the electroretinogram (ERG with the inclusion of this new kind of wave, to discuss the possible mechanisms for the scotopic fast wave retinal dystrophy (SFWRD associated with the loose anagen hair syndrome (LAHS and to analyze the pedigree of the studied family. METHODS: Were described in part I of this study. RESULTS: The pedigree analysis of the family showed to be an autosomal recessive form of inheritance with partial expression in the heterozygote; other results were described in part I of this study. CONCLUSION: Being the first account in the literature, the described finding strongly suggests that scotopic fast wave retinal dystrophy associated with the loose anagen hair syndrome can be a new nosological entity. In this study, we propose an unpublished classification of all macular dystrophies and retinal degenerations associated with hair disorders in group B

Stem cell transplantation for treating Duchenne muscular dystrophy

Science.gov (United States)

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 indexed in Web of Science; (b) original research articles, reviews, meeting abstracts, proceedings papers, book chapters, editorial material, and news items; and (c) publication between 2002 and 2011. Exclusion criteria: (a) articles that required manual searching or telephone access; (b) documents that were not published in the public domain; and (c) corrected papers. MAIN OUTCOME MEASURES: (1) Annual publication output; (2) distribution according to subject areas; (3) distribution according to journals; (4) distribution according to country; (5) distribution according to institution; (6) distribution according to institution in China; (7) distribution according to institution that cooperated with Chinese institutions; (8) top-cited articles from 2002 to 2006; (9) top-cited articles from 2007 to 2011. RESULTS: A total of 318 publications on stem cell transplantation for treating Duchenne muscular dystrophy were retrieved from Web of Science from 2002 to 2011, of which almost half derived from American authors and institutes. The number of publications has gradually increased over the past 10 years. Most papers appeared in journals with a focus on gene and molecular research, such as Molecular Therapy, Neuromuscular Disorders, and PLoS One. The 10 most-cited papers from 2002 to 2006 were mostly about different kinds of stem cell transplantation for muscle regeneration, while the 10 most-cited papers from 2007 to 2011 were mostly about new techniques of stem cell transplantation

Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.

Science.gov (United States)

Banihani, Rudaina; Smile, Sharon; Yoon, Grace; Dupuis, Annie; Mosleh, Maureen; Snider, Andrea; McAdam, Laura

2015-10-01

Duchenne muscular dystrophy is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have been associated with disruption of dystrophin isoforms. Retrospective cohort of 59 boys investigated the cognitive and neurobehavioral profile of boys with Duchenne muscular dystrophy. Full-scale IQ of Duchenne muscular dystrophy. © The Author(s) 2015.

Características musculares y producción de fuerza máxima/explosiva durante acciones isométricas/dinámicas de los músculos extensores de los miembros inferiores en jóvenes no entrenados

OpenAIRE

Izquierdo, M.; Aguado, X.; González, J. L.; López, J. L.; Ribas, T.; Linares, F.; Vila, L.; Voces, J. A.; Álvarez, A. I.; Prieto, J. G.

1997-01-01

Participaron en el estudio, de forma voluntaria cinco sujetos de sexo masculino, estudiantes de educación Física (22-26 años). El objetivo fue observar las relaciones entre el test de salto horizontal con los tests de salto vertical con contramovimiento y con flexión previa, tests de fuerza isométrica máxima y la distribución de los tipos de fibras musculares. Los resultados en la distancia y altura de vuelo conseguidas en los tests de salto horizontal, salto desde flexión previa sin cont...

Muscle Dysmorphia and the Perception of Men's Peer Muscularity Preferences.

Science.gov (United States)

Lin, Linda; DeCusati, Frank

2016-11-01

Research suggests that peer muscularity norms preferences are related to men's body image, but little information is known about how perceptions of specific peer group norms preferences are related to men's body image disturbances and specific health behaviors. This study investigated how men perceived the muscularity preferences of male, female, close, and distant peers and whether the perceptions of specific peer preferences were related to muscle dysmorphia and steroid use. Data on muscle dysmorphia and the perceptions of peer muscularity norms were collected from 117 male college students. Results indicated that men perceived distant and male peers as having the most exaggerated preferences for muscularity and that those perceptions were not an accurate reflection of their distant male peers' reported preferences. Results also indicated that perceptions of close female peer muscularity preferences were predictive of symptoms of muscle dysmorphia, but this relationship did not exist for other peer groups, suggesting that the perceptions of close female peer preferences may play a role in the development of muscle dysmorphia. No relationship was found between perceptions of peer muscularity preferences and steroid use. © The Author(s) 2015.

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.

Science.gov (United States)

Bianco, Bianca; Christofolini, Denise Maria; Conceição, Gabriel Seixas; Barbosa, Caio Parente

2017-01-01

Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.

Assessment of range of motion and muscular shortening in female flamenco dancers. Valoración de las amplitudes articulares y acortamientos musculares en bailaoras de flamenco.

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José L. Costa Sepúlveda

2011-12-01

Full Text Available The purpose of the study was to assess flexibility and range of motion in flamenco dancers of Cádiz, Sevilla and Jaén (Spain through a tests battery. The study population comprised 37 healthy flamenco dancers (25 ± 7,2 years, 1,6 ± 0,5 m y 56 ± 7,6 Kg. They performed a range of flexibility and motion tests (i.e. Kendall test, Nachlas test. Results has shown that there is muscle shortening in most of the tests that flamenco dancers has passed. We conclude that there are not many articles on physiological and fitness aspects of dance and we think that it is necessary a specific physical dancer training, to prevent injuries and to extend dancers life.El objetivo de este estudio es la valoración de la flexibilidad muscular y la amplitud articular en bailaoras de flamenco de la provincia de Cádiz, Sevilla y Jaén, a través de una batería de tests. En el estudio participaron 37 bailaoras de danza flamenca de 25 ± 7,2 años, con una altura con valores de 1,6 ± 0,5 m y 56 ± 7,6 Kg de peso. La batería está compuesta de las siguientes pruebas que se realizarán a través del protocolo de actuación especificado: Prueba de rotadores internos y aductores del hombro, Prueba de Kendall, Prueba de Diagonal Posterior, Prueba de Nachlas, Prueba de Ridge, Prueba de Flexión de cadera con rodilla en extensión, Prueba de Thomas y Prueba de Elongación de los flexores plantares. Los resultados demuestran que existen acortamientos en diferente musculatura implicada como los rotadores internos y aductores del hombro, dorsal ancho, pectoral mayor, redondo mayor, cintura escapular, psoas-ilíaco, recto anterior del muslo y sóleo. Concluir con la escasa existencia de artículos relacionados con la valoración de la condición física de bailarines de cualquier modalidad de danza y con la necesaria aplicación de un entrenamiento planificado complementario con una propuesta de ejercicios de mejora de la musculatura implicada y, así, poder prevenir futuras

Prevención de úlceras por presión y lesiones musculoesqueléticas: paciente con ictus Pressure ulcer prevention and muscular and skeletal injuries: Patient with stoke

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Carlos Luque Moreno

2012-03-01

Full Text Available Planteamos un caso clínico en el que enfermera y fisioterapeuta ponen en común procedimientos para mejorar la higiene postural de un paciente encamado con un accidente cerebrovascular y hemiplejia izquierda. Describimos analíticamente una intervención conjunta durante un mes. A pesar de que se ha mantenido el riesgo máximo de UPP objetivado inicialmente, durante este periodo no han aparecido úlceras, obteniendo un mantenimiento o aumento del rango de las articulaciones. Es importante un trabajo multidisciplinar que evite la aparición de úlceras por decúbito y de futuras lesiones musculoesqueléticas que dificultarían la posterior reeducación funcional del paciente.We propose a case in which both a nurse and a physiotherapist analyse different procedures to improve the postural hygiene of bedridden patients with stroke and left hemiplegia. We describe analitically a joint intervention for a month. Although the maximum risk of pressure ulcer (UP as mentioned before, has remained, ulcers have not appeared during that period, obtaining an increasing articulation range. Multidisciplinary work is important to avoid the appearance of bedsores and future muscular and skeletal injuries that would hinder the future rehabilitation of the patient.

Muscular hamartoma of the breast: a case report

International Nuclear Information System (INIS)

Kang, Byeong Seong; Park, Jeong Mi

2002-01-01

Muscular hamartoma is a variant of breast hamartoma shown at microscopic examination to be composed of abundant smooth muscle cells. We report a case of muscular hamartoma occurring in a 35-year-old woman with an incidentally discovered breast mass, and confirmed by excisional biopsy. We also describe the radiologic and pathologic findings

Why is muscularity sexy? Tests of the fitness indicator hypothesis.

Science.gov (United States)

Frederick, David A; Haselton, Martie G

2007-08-01

Evolutionary scientists propose that exaggerated secondary sexual characteristics are cues of genes that increase offspring viability or reproductive success. In six studies the hypothesis that muscularity is one such cue is tested. As predicted, women rate muscular men as sexier, more physically dominant and volatile, and less committed to their mates than nonmuscular men. Consistent with the inverted-U hypothesis of masculine traits, men with moderate muscularity are rated most attractive. Consistent with past research on fitness cues, across two measures, women indicate that their most recent short-term sex partners were more muscular than their other sex partners (ds = .36, .47). Across three studies, when controlling for other characteristics (e.g., body fat), muscular men rate their bodies as sexier to women (partial rs = .49-.62) and report more lifetime sex partners (partial rs = .20-.27), short-term partners (partial rs = .25-.28), and more affairs with mated women (partial r = .28).

Guidelines for the Perianesthesia Care of the Duchenne Muscular Dystrophy/Becker Muscular Dystrophy Patient.

Science.gov (United States)

Alliod, Barbara A; Ash, Rebecca A

2016-12-01

More patients suffering with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are presenting to perianesthesia settings for emergent and nonemergent treatment and care. A group of collaborative health care providers at Rush University Medical Center in Chicago developed a multidisciplinary DMD/BMD Task Force to study this disorder and create a set of guidelines to aid those engaging in the planning, execution of care, and recovery of this unique population in the perianesthesia setting. Attention to detail, well-executed preplanning, meticulous awareness of the patient, and prearranged implementation and intervention has proven to offset potential problems and complications and is the key to a successful perianesthesia period. Copyright © 2016 American Society of PeriAnesthesia Nurses. Published by Elsevier Inc. All rights reserved.

Validação da escala motora funcional EK para a língua portuguesa Validation of the EK functional motor scale in the Portuguese language

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José Antônio Baddini Martinez

2006-10-01

Full Text Available OBJETIVO: Validar uma versão traduzida para o português da escala funcional EK (Egen Klassifikation, desenvolvida na Dinamarca, visando aplicação em pacientes com distrofia muscular de Duchenne e atrofia muscular espinhal. MÉTODOS: Uma versão em inglês da escala EK foi traduzida para o português falado no Brasil. Tal escala foi aplicada a 26 pacientes do sexo masculino (idade média = 12,7 ± 4,0 anos, com diagnóstico de distrofia muscular de Duchenne. Os pacientes também responderam questões referentes a uma versão em língua portuguesa do índice de Barthel e tiveram medidas a força de preensão palmar direita e esquerda, com emprego de um dinamômetro de mão. Os escores da escala EK foram correlacionados com a idade, escores do índice de Barthel e as forças palmares. RESULTADOS: O escore total médio da escala EK foi de 8,1 ± 7,3 e do índice de Barthel de 54,0 ± 26,2. A força de preensão palmar direita foi de 12,7 ± 17,2% e a esquerda de 14,6 ± 19,8% do previsto. Os escores da escala EK correlacionaram-se de maneira altamente significante com a idade (r= 0,596, p= 0,0013, força de preensão palmar direita (r= -0,556, p= 0,0032 e esquerda (r= -0,623, p=0,0007, e com o índice de Barthel (r= -0,928, p OBJECTIVE: To validate a Portuguese version of the EK scale (Egen Klassifikation, that was developed in Denmark for patients with Duchenne muscular dystrophy, and spinal muscular atrophy. METHODS: An English version of the EK scale was translated into the Portuguese language as spoken in Brazil. This scale was applied to 26 male patients (mean age = 12.7 ± 4.0 years with Duchenne muscular dystrophy. Patients also answered questions of a Portuguese version of the Barthel index questionnaire, and had their right and left hand grip forces measured with a dynamometer. RESULTS: The mean total EK scale score was 8.1 ± 7.3 and the Barthel index 54.0 ± 26.2. The mean hand grip force was 12.7 ± 17.2 % predicted for the right

Maduración biológica, fuerza y potencia muscular en la brazada de crol

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Richard R. Casanova Machek

2017-06-01

Full Text Available Se trata de una investigación de campo, de tipo correlacional que buscó determinar la relación entre la maduración biológica y la potencia muscular de los miembros superiores en nadadores de categorías menores. Se evaluaron 23 niños(as edades comprendidas entre los 10 y los 13 años. La muestra se caracterizó a través de mediciones antropométricas: estatura, masa corporal, envergadura, composición corporal y superficie corporal, maduración sexual (Tanner, 1975. Se aplicó Test de Wingate (laboratorio y piscina según Dotan y Bar-Or (1983 y Morouco (2009 para miembros superiores para estimar potencia máxima, potencia relativa, potencia promedio, índice de fatiga. Los datos se presentan en medidas de tendencia central y dispersión; se calcularon las diferencias de un factor y se estimaron las correlaciones con la técnica Pearson y Spearman. Los resultados indican que el entrenamiento fuera del agua influyó en el rendimiento dentro del agua. El tamaño de las dimensiones corporales y el número de horas de entrenamiento tiene incidencia sobre la potencia producida por los nadadores, con diferencias notables a partir de los 10 años. Las dimensiones corporales y la mayor frecuencia de entrenamiento semanal generan valores altos de potencia muscular. Se recomienda realizar evaluaciones periódicas de fuerza y potencia, crear y mantener actualizado el perfil antropométrico, aplicar cuestionario de autoevaluación de caracteres de maduración sexual y ajustar los periodos de duración de las horas de entrenamiento, en tanto se incrementen las edades.

A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy

Science.gov (United States)

2018-04-17

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

ATROFIA MUSCULAR ESPINAL: MANEJO RESPIRATORIO EN LA PERSPECTIVA DE LOS RECIENTES AVANCES TERAPÉUTICOS

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Dra. María Angélica Palomino

2017-01-01

Full Text Available La atrofia muscular espinal (AME es la primera causa genética de mortalidad en lactantes. La severidad de las manifestaciones clínicas es un continuo, con tres principales subtipos en pediatría: AME1 que se presenta en recién nacidos y no logran sentarse, AME2 en niños que no logran caminar pero sí sentarse y AME3 que logran caminar. La complicación más seria es la insuficiencia respiratoria. El enfoque del manejo respiratorio es preventivo, con toma de decisiones anticipadas por parte de los cuidadores, que incluye optimizar el manejo de la tos, evitar la deformación de la caja torácica y permitir un desarrollo pulmonar adecuado, tratar la hipoventilación, manejar oportunamente las infecciones respiratorias, el trastorno de deglución, el reflujo gastroesofágico y la malnutrición. A las puertas del desarrollo de tratamientos específicos modificadores de la enfermedad, mediante oligonucleótidos antisentido o vectores genéticos entre otros, los cuidados en AME con enfoque multidisciplinario nos imponen nuevos desafíos donde los cuidados respiratorios deberían estar de acuerdo a lo sugerido en consensos de estándar de manejo, optimizando sus condiciones globales a la espera de tratamientos más específicos.

Computed tomography of skeletal muscles in childhood spinal progressive muscular atrophies

International Nuclear Information System (INIS)

Arai, Yumi; Osawa, Makiko; Sumida, Sawako; Shishikura, Keiko; Suzuki, Haruko; Fukuyama, Yukio; Kohno, Atsushi

1992-01-01

Computed tomographic (CT) scanning of skeletal muscles was performed in patients with type 1 and type 2 spinal progressive muscular atrophy (SPMA) and Kugelberg-Welander disease (K-W) to delineate the characteristic CT features of each category. Marked muscular atrophy was observed in type 1 SPMA, and both muscular atrophy and intramuscular low density areas in type 2 SPMA, changes being more pronounced in older patients. In contrast, in K-W, muscular atrophy was slight, and intramuscular low density areas constituted the most prominent findings. These observations indicate that SPMA and K-W are each characterized by distinct CT findings. (author)

Descrição de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos New macular dystrophy associated with loose anagen hair syndrome

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Mário Teruo Sato

2002-03-01

Full Text Available Objetivos: Descrever os achados oftalmológicos, dermatológicos e de microscopia óptica (MO e microscopia eletrônica de varredura (MEV de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos (SCAF. Métodos: Uma família de sete pacientes, quatro deles afetados, foi examinada. Os pacientes foram submetidos ao exame oftalmológico completo, teste de cores (Ishihara e Farnsworth D-15, ecografia, angiografia, exames laboratoriais e dermatológico, teste do suor, microscopia óptica e microscopia eletrônica de varredura dos fios de cabelo. Resultados: Em duas irmãs afetadas encontramos no fundo de olho dispersões pigmentares em pólo posterior da retina, com estafiloma da mácula. Em dois irmãos foram encontradas as mesmas dispersões pigmentares em pólo posterior, com maior pigmentação e coloração amarelada em área macular e sem estafiloma. A avaliação na microscopia óptica e microscopia eletrônica de varredura dos indivíduos afetados confirmou a SCAF. Em uma mulher e em um homem não afetados todos os exames foram normais, exceto que na MO e MEV encontramos algumas semelhanças com os indivíduos afetados. Quanto ao modo de herança, o heredograma é compatível com herança autossômica recessiva com expressão parcial no heterozigoto. Conclusões: Há somente um relato na literatura internacional da associação de SCAF e coloboma ocular. Neste trabalho descrevemos os achados de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos, distrofia cujos achados fundoscópicos são diferentes entre homens e mulheres. Por se tratar do primeiro relato na literatura, os achados descritos sugerem fortemente que esta associação pode ser parte de uma nova entidade nosológica.Purpose: To describe the ophthalmological, dermatological, light microscopy (LM and scanning electron microscopy (SEM findings of a new macular dystrophy associated with the loose anagen hair syndrome (LAHS. Methods: A

Duchenne muscular dystrophy carriers

International Nuclear Information System (INIS)

Matsumura, K.; Nakano, I.

1989-01-01

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.)

Upper limb function in adults with Duchenne muscular dystrophy

NARCIS (Netherlands)

B. Bartels (Bart); R.F. Pangalila (Robert); 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

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. PMID:27757431

Displasia ectodérmica en odontopediatría

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Marcelle Danelon

2018-01-01

Full Text Available La displasia ectodérmica (DE se caracteriza por ser una enfermedad hereditaria que consiste en alteraciones genéticas y ambientales, provocando hipodoncia, distrofia en uñas, cabello escaso y anomalías dentarias. El tratamiento de rehabilitación en pacientes pediátricos con DE es difícil debido al continuo crecimiento y desarrollo cráneo facial de estos niños. El presente trabajo tiene como objetivo relatar un caso clínico de rehabilitación oral en paciente pediátrico diagnosticado con DE. Paciente de sexo femenino, con 5 años y 6 meses de edad que compareció a la clínica de odontopediatría en la UNIDERP. Al examen físico, extra oral, se constató que la paciente era respiradora bucal, y presentaba disminución del tercio inferior de la cara, labios protruidos y evertidos, frente prominente, nariz en “silla de montar”, escasez de cabello, pestañas y cejas, piel fina y seca. En el examen intraoral se observó ausencia de los siguientes dientes: 51/52, 61/62/63, 71/72, 81/82, y aspecto conoide de los dientes 53, 73 y 83. Al examen radiográfico se constató agenesia de 9 dientes primarios y de los gérmenes de los siguientes dientes permanentes: 11/12/13, 21/22/23, 41/42, 31/32, se observó la presencia de los gérmenes de los dientes 33 y 43. Con base en las características físicas y radiográficas se diagnosticó displasia ectodérmica hidrótica. Como conducta clínica, se optó por la instalación de mantenedores estéticos funcionales removibles, con el fin de favorecer la fonación, deglución, tonicidad muscular labial y lingual y el desenvolvimiento social.

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease Mutação homozigótica intrônica no gene GAA em três irmãos com doença de Pompe de início tardio

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Anderson Kuntz Grzesiuk

2010-04-01

Full Text Available Pompe's disease (PD is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this study were analyzed affected siblings with Pompe's disease (PD and their distinct clinical and pathological presentations. METHOD: Diagnosis was performed by the clinical presentation of limb-girdle dystrophies and respiratory compromise. Confirmatory diagnoses were conducted by muscle biopsy, GAA activity measurement and by GAA gene genotyping. RESULTS: The findings suggested muscular involvement due to GAA deficiency. GAA genotyping showed they are homozygous for the c.-32-3C>A mutation. CONCLUSION: Herein we reported a family where three out of five siblings were diagnosed with late-onset PD, although it is a rare metabolic disease inherited in an autossomal recessive manner. We emphasize the importance of including this presentation within the differential diagnoses of the limb-girdle dystrophies once enzyme replacement therapy is available.A doença de Pompe (DP é uma miopatia originada do acúmulo lisossomal de glicogênio, devido à deficiência da enzima α-glicosidase ácida (GAA, sendo descritas formas de inicio precoce e tardio. Neste estudo analisamos retrospectivamente o perfil clinico e patológico de 3 irmãos portadores de doença de Pompe de inicio tardio. MÉTODO: O diagnóstico foi realizado mediante apresentação clinica de distrofia de cinturas associado a comprometimento respiratório, sendo confirmado por biópsia muscular e análise da atividade e genotipagem da GAA. RESULTADOS: Os exames clínicos e laboratoriais demonstram envolvimento muscular devido à deficiência da GAA, com uma mutação c.-32-3C>A em homozigose. CONCLUSÃO: Relatamos os aspectos clínicos e laboratoriais de 3 irmãos afetados por doença de Pompe de início tardio. Enfatizamos a importância de

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…

Rare muscular variations identified in a single cadaveric upper limb: a four-headed biceps brachii and muscular elevator of the latissimus dorsi tendon.

Science.gov (United States)

Moore, Colin W; Rice, Charles L

2018-03-01

Supernumerary or accessory heads of the biceps brachii are persistent muscular structures which can vary in number and location in the arm. Variations in other arm muscles, such as the coracobrachialis, can accompany supernumerary biceps brachii musculature in the upper limb. In this case report, we describe two rare muscular variants in a single adult male: a four-headed biceps brachii and the muscular elevator of the latissimus dorsi tendon. Additionally, accessory muscles of the brachialis and flexor digiti minimi brevis were identified in the upper limb. To our knowledge, the muscular variants identified here are considered rare, and their co-occurrence in a single upper limb has not been described previously. Also, a four-headed biceps brachii consisting of both the infero-medial and infero-lateral humeral heads has not been described previously to our knowledge. We postulate that the simultaneous appearance of several muscular variations may indicate a signaling disruption in embryogenesis during muscle patterning of the ventral limb bud. Knowledge of variant musculature in the arm is important for surgeons and clinicians as these muscles and their aberrant innervation patterns can complicate surgical procedures and may compress arteries and nerves producing upper limb pain and paresthesia. The clinical, functional and embryological implications of the upper limb variants are discussed.

Adaptaciones musculares relacionadas a áreas corporales que participan activamente en el vuelo de Anhima cornuta (Aves: Anseriformes, Anhimidae

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Marcos Antonio Manzanares

2013-04-01

Full Text Available La forma y correspondencia entre la anatomía muscular y ósea revela en gran medida el hábito locomotor de cualquier ave. Las especies pertenecientes a la Familia Anhimidae son relevantes dentro de las Aves, debido a las adaptaciones óseas (y por lo tanto, musculares que presentan, como la pérdida de procesos uncinados, el desarrollo de espolones metarcapales, la extrema neumatización y el notable desarrollo de forámenes. Se analizaron anatómicamente y numéricamente (superficie de origen e inserción, longitud en reposo y masa los componentes musculares relacionados a las zonas de la columna vertebral, tronco, miembros y cinturas de tres ejemplares de Anhima cornutade distintos sexos y se compararon con lo estudiado en 4 ejemplares de especies relacionadas (Dendrocygna bicolory Dendrocygna viduata, Anatidae. El estudio reveló que en Anhima existe un gran desarrollo de los músculos intercostales e intervertebrales (torácicos y lumbares, evidenciando una adaptación a la ausencia de procesos uncinados. En Anhimaexisten fascículos proporcionalmente menos pesados y de menor tamaño que en Dendrocygna, indicando morfológicamente la ocurrencia de un vuelo menos desarrollado en el primero. Algunos tendones y fibras musculares metacarpales cuya inserción ocurre en el primer dígito en Dendrocygna, en Anhimase insertan en la base de los espolones proximal y distal, demostrando el poco control del vuelo en Anhima. La musculatura de los miembros posteriores en Anhimaes mucho más desarrollada, tanto en tamaño, como en masa proporcional, evidenciando una gran actividad en esta zona en la propulsión del vuelo y en hábitos terrestres

Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy

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Gosal Gurinder S

2011-03-01

Full Text Available Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of first- degree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.

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

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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.

Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy

Science.gov (United States)

... myoclonic epilepsy Spinal muscular atrophy with progressive myoclonic epilepsy Printable PDF Open All Close All Enable Javascript ... boxes. Description Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes ...

Dismorfia muscular: A busca pelo corpo hiper musculoso

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Andréa Pires Azevedo

2012-03-01

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

Spirometry improvement after muscular exercise in elite swimmers.

Science.gov (United States)

Rubini, Alessandro; Rizzato, Alex; Fava, Simone; Olivato, Nicola; Mangar, Devanand; Camporesi, Enrico M; Bosco, Gerardo

2017-12-01

An increased sympathetic activity during muscular effort is a well established physiological response, whose intensity is known to increase with the muscular load. Spirometry was described to improve as an effect of swimming training in healthy and asthmatic subjects, suggesting a decrease in airway resistance The aim was to investigate the possible effect of muscular exercise (swimming) on spirometry, in particular searching for possible differences because of different swimming times. The measurements were performed on 9 highly trained male competitive swimmers (age: 41±12.79 years, height: 1.69±0.06 meters, weight: 66.14±14.28 kg, BMI: 22.8±3.61 kg/m2) during an official competition. The data were collected at the border of the swimming-pool before (control, C) and few minutes after the swimming sessions (exercise, E), which consisted either of 800 meter (7 subjects) or 1500 meter (5 subjects) free style. A general trend indicating a postexercise increase in spirometry was observed. We found post-exercise significant increments in FEV1 and in MEF75 for both the 800 and 1500 meter swimming sessions, and in FEF25-75 and in MEF25 for the shorter distance. We conclude that, as it may be expected, muscular exercise induces an improvement of spirometry both because of a smooth muscle relaxation-induced modulation of airway diameter and resistance to airflow, and because of an enhanced expiratory muscle contraction strength. Both of these mechanisms are related to an increased sympathetic activity which is well known to accompany muscular exercise.

Duchenne muscular dystrophy with associated growth hormone deficiency

International Nuclear Information System (INIS)

Ghafoor, T.; Mahmood, A.; Shams, S.

2003-01-01

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

CT finding and cerebrospinal fluid proteins in muscular dystrophy patients

Energy Technology Data Exchange (ETDEWEB)

Hirase, Tsutomu; Ide, Masami; Araki, Shukuro; Okamoto, Hiroshi (Kumamoto Univ. (Japan). School of Medicine); Kawasaki, Shoichiro; Imamura, Shigehiro

1983-06-01

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 ..gamma..-globulin fraction is shown in the Duchenne and congenital muscular dystrophy. The increase in CSF IgG, ..gamma..-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.

CT finding and cerebrospinal fluid proteins in muscular dystrophy patients

International Nuclear Information System (INIS)

Hirase, Tsutomu; Ide, Masami; Araki, Shukuro; Okamoto, Hiroshi; Kawasaki, Shoichiro; Imamura, Shigehiro.

1983-01-01

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)

Efecto del kinesiotaping con y sin tensión aplicado en cuadríceps sobre la capacidad de salto en deportistas

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Mayerly Carolina Anaya

2015-06-01

Full Text Available Antecedentes: Estudios previos han encontrado que la técnica del Kinesiotaping (KT reduce la intensidad y duración del dolor y la inflamación, incrementa la fuerza muscular y estabiliza las articulaciones. Sin embargo, poco se conoce sobre su efecto para mejorar las capacidades físicas a través de la estimulación muscular en deportistas. Objetivo: Evaluar el efecto del KT aplicado en el cuadríceps sobre la capacidad de salto vertical en deportistas sanos, ajustado por el porcentaje de coordinación y elasticidad, edad e Índice de Masa Corporal. Metodología: Estudio experimental realizado en 24 voleibolistas, aleatorizados en dos grupos: (1 12 sujetos (21.3 ± 3.4 años, 75.6 ± 13.9Kg, con aplicación del KT en cuádriceps femoral con tensión; (2 12 sujetos (20.5± 2.9 años, 71.8 ± 6.8 Kg con aplicación del KT en cuádriceps femoral sin tensión. Resultados: Los datos no mostraron diferencias estadísticamente significativas en la aplicación del KT con y sin tensión; se encontró asociación estadísticamente significativa entre el porcentaje de coordinación y la altura del salto alcanzado en la prueba de Abalakov (p=0,006, cuando el KT tenía tensión y ajustado por edad e IMC. Discusión y conclusiones: La técnica KT no mejora del desempeño del salto en deportistas sanos. No se debería aplicar KT en el cuadríceps femoral con el único objetivo de mejorar el salto en jugadores de voleibol saludables masculinos.

Entrenamiento y posterior desentrenamiento tras un programa de ejercicio físico en medio acuático en pacientes con fibromialgia

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Pablo Tomás Carú

2006-06-01

Full Text Available Introducción: Los pacientes con fibromialgia (FM se caracterizan principalmente por dolor musculosquelético generalizado y fatiga, acompañado a menudo de rigidez muscular, sueño no reparador y ansiedad. Estos síntomas hacen que los pacientes con FM presenten baja condición física, poca fuerza muscular, y una calidad de vida reducida. Objetivo: Evaluar los efectos del ejercicio físico controlado en piscina de agua caliente, de intensidad baja-moderada, y posterior desentrenamiento sobre la calidad de vida relacionada con la salud (CVRS, función neuromuscular, y condición física en mujeres con fibromialgia. Método: Treinta y cuatro mujeres con FM fueron distribuidas aleatoriamente en un grupo ejercicio (GE que realizó ejercicio en agua caliente 60 minutos, 3 veces por semana (n=17; y un grupo control (GC, que continuó realizando su vida cotidiana (n=17. La CVRS fue medida usando los cuestionarios SF-36, FIQ, y EuroQol 5-D. La fuerza isocinética máxima fue medida en flexores y extensores de rodilla en acción concéntrica (60º/s y 210º/s y excéntrica (60º/s, y en abductores y aductores de hombro en acción concéntrica (60º/s. La condición física fue medida usando las pruebas de: escalón canadiense, CMJ, fuerza de prensión, velocidad máxima en caminar 10 metros, subir 10 escalones, flexión de tronco, y equilibrio monopodal sin visión. Los resultados fueron medidos en la línea base, a las 12 semanas de entrenamiento, y a las 12 semanas seguidas de desentrenamiento. Resultados: El período de entrenamiento reveló mejoras significativas en CVRS, a favor del EG, en la escala total del FIQ, EuroQol 5-D, y en las dimensiones de función física, dolor corporal, vitalidad, función social, problemas emocionales, y salud mental del SF-36. Tras el período de desentrenamiento solamente las mejoras en dolor corporal, problemas emocionales, y salud mental fueron mantenidas. Los resultados en función neuromuscular mostraron

Tortícolis muscular congénita: punto de vista del cirujano plástico

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F.J. Villegas-Alzate

2014-03-01

Full Text Available La tortícolis muscular congénita es una entidad frecuente, presente al nacimiento como una banda fibrosa o tumor en la región del músculo esternocleidomastoideo, que produce cambios restrictivos reflejados en trastornos progresivos del crecimiento y posición de la cabeza y en la rotación y flexión del cuello. El diagnóstico y tratamiento oportunos con fisioterapia y aparatología pueden evitar su secuencia de asimetría craneofacial y daño ocular, de difícil corrección una vez instaurados. Los casos que no responden al tratamiento médico inicial se benefician de cirugía. Presentamos la experiencia quirúrgica con 16 pacientes entre 9 y 32 años con seguimiento de entre 10 semanas y 15 años. El tratamiento quirúrgico consistió en 3 tenotomías de las inserciones del músculo esternocleidomastoideo a través de abordaje directo por dos incisiones pequeñas. Cuantificamos la mejoría de la posición de la cabeza por mediciones angulares en las fotografías pre y postoperatorias en vistas anterior y posterior, demostrando correcciones de entre el 53 y el 100% con promedio del 83% . En algunos casos medimos la movilidad del cuello con un transportador de ángulos confeccionado en consulta. En todos los casos logramos mejoría sustancial, sin complicaciones y con cicatrices aceptables; la columna lateral del cuello en el sitio del músculo seccionado recuperó su continuidad, sin percepción de corte abrupto, depresión o hundimiento. No observamos correlación entre la mejoría lograda y la severidad de la deformidad, ni tampoco con la edad del paciente en el momento de la cirugía, ya que a pesar de que en algunos casos había finalizado el crecimiento y el estado era avanzado, la mejoría fue buena.

Emerging strategies for cell and gene therapy of the muscular dystrophies

OpenAIRE

Muir, Lindsey A.; Chamberlain, Jeffrey S.

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 ...

Muscular Dystrophy: Hope Through Research

Science.gov (United States)

... of muscular dystrophy appeared in 1830, when Sir Charles Bell wrote an essay about an illness that ... linked disorder to their sons but their daughters will be carriers of that disorder. Carrier females occasionally ...

Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site

Science.gov (United States)

D’Angelo, Maria Grazia; Lorusso, Maria Luisa; Civati, Federica; Comi, Giacomo Pietro; Magri, Francesca; Del Bo, Roberto; Guglieri, Michela; Molteni, Massimo; Turconi, Anna Carla; Bresolin, Nereo

2011-01-01

The presence of nonprogressive cognitive impairment is recognized as a common feature in a substantial proportion of patients with Duchenne muscular dystrophy. To investigate the possible role of mutations along the dystrophin gene affecting different brain dystrophin isoforms and specific cognitive profiles, 42 school-age children affected with Duchenne muscular dystrophy, subdivided according to sites of mutations along the dystrophin gene, underwent a battery of tests tapping a wide range of intellectual, linguistic, and neuropsychologic functions. Full-scale intelligence quotient was approximately 1 S.D. below the population average in the whole group of dystrophic children. Patients with Duchenne muscular dystrophy and mutations located in the distal portion of the dystrophin gene (involving the 140-kDa brain protein isoform, called Dp140) were generally more severely affected and expressed different patterns of strengths and impairments, compared with patients with Duchenne muscular dystrophy and mutations located in the proximal portion of the dystrophin gene (not involving Dp140). Patients with Duchenne muscular dystrophy and distal mutations demonstrated specific impairments in visuospatial functions and visual memory (which seemed intact in proximally mutated patients) and greater impairment in syntactic processing. PMID:22000308

Upper Body Muscular Endurance Among Children 2-5 Years.

Science.gov (United States)

Gabbard, Carl P.; And Others

The upper body muscular endurance of males and females 2-5 years of age was assessed, and relationships relative to sex, age, endurance and selected anthropometric measures were investigated. None of the relationships were found to be of practical predicative value; while upper body muscular strength increased with age, no significant differences…

MR imaging of fukuyama congenital muscular dystrophy; a case report

International Nuclear Information System (INIS)

Yoo, Jeong Hyun; Kim, Yoo Kyung; Koo, Hae Soo; Park, Ki Deuk

2000-01-01

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

Utilización de la placa palatina de memoria y desarrollo orofacial en infante con Síndrome de Down

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Vera Lúcia Carneiro

2012-12-01

Full Text Available Los infantes con Síndrome de Down presentan en general, hipotonía de la muscular, cierre labial incompetente, lengua flácida y protruida. La placa palatina de memoria, propuesta por Castillo Morales, induce el cierre bilabial y posicionamiento correcto de la lengua. Este trabajo tuvo por objetivo evaluar el desarrollo orofacial, de una niña con Síndrome de Down, a través de terapia de estimulación precoz y utilización de placa palatina de memoria. Recibió tratamiento con placa palatina de memoria desde los 5 hasta los 15 meses y fue acompañada por un equipo multidisciplinario hasta los 6 años de edad. En el caso presentado, la terapia empleada permitió un desarrollo bucofacial adecuado, armónico y funcional. La utilización precoz de placa palatina de memoria demostró ser un complemento valioso en el programa multidisciplinario de atención a pacientes con Síndrome de Down.

Muscular system in interna of Peltogaster paguri (Rhizocephala: Peltogastridae).

Science.gov (United States)

Miroliubov, Aleksei A

2017-03-01

Rhizocephalan parasites have a peculiar life cycle, and their adults lost almost all traits found usually in Crustacea. Despite some data on anatomy and ultrastructure of interna of Peltogastridae, some crucial aspects of morphology are still unknown. For example, there is only one mentioning of myocytes found in interna of Rhizocephalans (Sacculina carcini). So we aimed at studying the muscular system of the interna of Peltogaster paguri using serial histological sectioning and fluorescent staining (TRITC-labeled phalloidin) with confocal microscopy. Within the wall of the main trunk we found striated muscular fibers. The majority of these fibers form a unidirectional single spiral. There are additional small fibers that connect the coils of the large spiral. The density of muscular fibers is highest near the externa stalk, and the number of muscle fibers decreases towards the distal part of the main trunk. We suggest that such a muscular system could provide peristaltic movements of the main trunk and the transport of nutrients through the interna. Copyright © 2016 Elsevier Ltd. All rights reserved.

ENVEJECIMIENTO, MASA MUSCULAR Y ENTRENAMIENTO DE LA FUERZA: UNA REVISIÓN

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Santiago Adolfo Arboleda Franco

2014-11-01

Full Text Available En este artículo se revisan los fundamentos sobre los cuales se ha reconocido la fuerza como elemento esencial en las prescripciones de ejercicio físico para la salud, específicamente en las personas mayores. Se describen las implicaciones de la sarcopenia como síndrome propio de este periodo vital y los hallazgos sobre la importancia de la masa muscular en el equilibrio homeostático mediante su función endocrina. También se examina lo propuesto desde consensos y declaraciones de asociaciones científicas sobre el entrenamiento de distintas manifestaciones de la fuerza en un contexto de salud y se revisa lo hallado en algunos meta–análisis y revisiones sistemáticas recientes sobre los efectos de este entrenamiento en distintas variables relacionadas con la capacidad funcional. Por último, se señalan algunos horizontes de investigación en el tema.

Dasatinib as a treatment for Duchenne muscular dystrophy.

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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. © The Author 2015. Published by Oxford University Press.

The Effects of Multiple-Joint Isokinetic Resistance Training on Maximal Isokinetic and Dynamic Muscle Strength and Local Muscular Endurance

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Nicholas A. Ratamess, Noah A. Beller, Adam M. Gonzalez, Gregory E. Spatz, Jay R. Hoffman, Ryan E. Ross, Avery D. Faigenbaum, Jie Kang

2016-03-01

Full Text Available The transfer of training effects of multiple-joint isokinetic resistance training to dynamic exercise performance remain poorly understood. Thus, the purpose of the present study was to investigate the magnitude of isokinetic and dynamic one repetition-maximum (1RM strength and local muscular endurance increases after 6 weeks of multiple-joint isokinetic resistance training. Seventeen women were randomly assigned to either an isokinetic resistance training group (IRT or a non-exercising control group (CTL. The IRT group underwent 6 weeks of training (2 days per week consisting of 5 sets of 6-10 repetitions at 75-85% of subjects’ peak strength for the isokinetic chest press and seated row exercises at an average linear velocity of 0.15 m s-1 [3-sec concentric (CON and 3-sec eccentric (ECC phases]. Peak CON and ECC force during the chest press and row, 1RM bench press and bent-over row, and maximum number of modified push-ups were assessed pre and post training. A 2 x 2 analysis of variance with repeated measures and Tukey’s post hoc tests were used for data analysis. The results showed that 1RM bench press (from 38.6 ± 6.7 to 43.0 ± 5.9 kg, 1RM bent-over row (from 40.4 ± 7.7 to 45.5 ± 7.5 kg, and the maximal number of modified push-ups (from 39.5 ± 13.6 to 55.3 ± 13.1 repetitions increased significantly only in the IRT group. Peak isokinetic CON and ECC force in the chest press and row significantly increased in the IRT group. No differences were shown in the CTL group for any measure. These data indicate 6 weeks of multiple-joint isokinetic resistance training increases dynamic muscle strength and local muscular endurance performance in addition to specific isokinetic strength gains in women.

Mutaciones dinámicas

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Cesar A. Parra

1994-10-01

Full Text Available EI descubrimiento de repeticiones amplificadas de trinucleótidos variables en número, en pacientes con distrofia miotónica, síndrome de X-frágil, corea de Huntington y enfermedad de Kennedy, al igual que alteraciones en dinucleótidos del DNA microsatélite en pacientes con carcinoma proximal de colon, ha dado origen al concepto de mutaciones dinámicas. Esto representa una nueva avenida en teoría genética contemporánea que explica fenómenos como lo anticipación y la paradoja de Sherman que se salen del patrón mendeliano clásico.

Diagnóstico del estado nutricional de los pacientes con demencia tipo Alzheimer registrados en el Grupo de Neurociencias, Medellín, 2004.

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Angélica María Muñoz

2006-03-01

Full Text Available Introducción. Los pacientes con demencia tipo Alzheimer presentan riesgo de deterioro del estado nutricional por cambios fisiológicos, socioeconómicos y psicológicos relacionados con la enfermedad, lo que se suma al proceso de envejecimiento. Objetivo. Describir el estado nutricional de los pacientes con demencia tipo Alzheimer del Grupo de Neurociencias de la Universidad de Antioquia según el estadio de evolución. Materiales y métodos. Estudio descriptivo transversal. Cada paciente fue evaluado para obtener información general, de salud, composición corporal, alimentaria, signos clínicos y aspectos psicosociales. Resultados. Se evaluaron 77 pacientes con edad promedio de 65,5±12,8 años, 48 de ellos con antecedentes familiares de la enfermedad y 39 con más de 60 meses de diagnóstico; el estadio más frecuente fue el moderado y el tipo de demencia más común, la familiar precoz; la enfermedad se diagnosticó antes de los 50 años en 26 pacientes. Hubo diferencias estadísticamente significativas en el índice de masa corporal, el área grasa braquial y el área magra braquial por estadio, y mayor compromiso en el estadio grave (p=0,001, p=0,000 y p=0,000; en todos los estadios se presentó compromiso de la reserva energética y muscular. El calcio y los folatos fueron los nutrientes más comprometidos en el consumo. Conclusión. Aun en el estadio inicial, los pacientes presentaron compromiso del estado nutricional, evidenciado por déficit en la reserva energética y muscular, signos clínicos y consumo inadecuado de calcio y folatos. A medida que avanza la enfermedad, el compromiso de los indicadores nutricionales es mayor. Lo anterior evidencia la necesidad del cuidado nutricional individual de acuerdo con el estadio de la enfermedad.

Urological manifestations of Duchenne muscular dystrophy.

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Askeland, Eric J; Arlen, Angela M; Erickson, Bradley A; Mathews, Katherine D; Cooper, Christopher S

2013-10-01

Duchenne muscular dystrophy is a dystrophinopathy affecting males that is associated with multiple organ system complications. To our knowledge urological complications of Duchenne muscular dystrophy have been described only anecdotally to date. We reviewed the medical charts of 135 patients with Duchenne or Duchenne-Becker muscular dystrophy for demographics and disease progression, urological diagnoses, intervention and followup. Of 135 patients 67 (50%) had at least 1 documented urological diagnosis and 38 (28%) had multiple manifestations. Lower urinary tract symptoms were the most common urological diagnosis (32% of patients). Survival analysis revealed a median age at onset of lower urinary tract symptoms of 23 years (95% CI 17.7-23.9). Intervention was required in 12 patients (9%), most commonly due to nephrolithiasis. Urological morbidity increased with Duchenne muscular dystrophy progression when stratified by clinical progression. Lower urinary tract symptoms were more common in nonambulatory patients (40.7% vs 19%, p = 0.007), those with a diagnosis of scoliosis (44% vs 19.7%, p = 0.003) and/or scoliosis spine surgery (60% vs 22%, p <0.001), and those on invasive respiratory support (53% vs 29%, p = 0.046). Likewise, nephrolithiasis was more common in nonambulatory patients (10% vs 0%, p = 0.017), those with scoliosis (12% vs 0%, p = 0.004) and/or scoliosis spine surgery (20% vs 1%, p <0.001), and those on invasive respiratory support (29% vs 3%, p <0.001). Only 28% of patients with a urological manifestation were referred to urology. As these patients transition into adolescence and adulthood, the increased prevalence of urological manifestations warrants increased awareness and referral to urologists. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Genetic variants in the PPARD-PPARGC1A-NRF-TFAM mitochondriogenesis pathway are neither associated with muscle characteristics nor physical performance in elderly. [Variaciones genéticas en la vía de la mitocondriogénesis PPARD-PPARGC1A-NRF-TFAM no están asociadas ni con características musculares ni con rendimiento físico en personas mayores].

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Nuria Garatachea

2015-07-01

Full Text Available We studied the influence of genetic polymorphisms involved in the PPARD-PPARGC1A-NRF-TFAM mitochondriogenesis pathway (rs6949152, rs12594956, rs2267668, rs8192678, and rs1937 on muscle phenotypes (thigh muscles’ cross-sectional, maximal handgrip-strength and 30-second chair stand-test and Barthel index in Caucasian (Spanish community-dwelling old people (n=75, 21 men, 54 women; 71–94 years. We found no significant genetic associations with the studied phenotypes. Multiple, complex gene-environment and gene-gene interactions which are yet to be determined are likely to play a more determinant role. Resumen Se estudió la influencia de los polimorfismos genéticos implicados en la vía de mitocondriogénesis PPARD-PPARGC1A-NRF-TFAM (rs6949152, rs12594956, rs2267668, rs8192678 y rs1937 en distintos fenotipos musculares (sección transversal muscular del muslo, fuerza máxima de prensión manual y 30 segundos de sentarse-levantarse de una silla y en el índice de Barthel en personas mayores caucásicas (españoles (n = 75, 21 hombres, 54 mujeres; 71 a 94 años. No se encontraron asociaciones genéticas significativas con los fenotipos estudiados. Interacciones múltiples, complejos gen-ambiente y relaciones gen-gen aún no determinadas podrían desempeñar un papel más determinante.

Prevalence of cardiomyopathy in duchenne and becker's muscular dystrophy

International Nuclear Information System (INIS)

Sultan, A.; Fayaz, M.

2008-01-01

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)

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

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

2016-01-01

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

CT findings of muscular dystrophy

International Nuclear Information System (INIS)

Saitoh, Hiroshi

1991-01-01

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)

Dolor osteo-muscular y factores asociados en el personal de enfermería de un centro hospitalario de alta complejidad en Colombia

OpenAIRE

Sarmiento Ariza, Bibiana Andrea

2016-01-01

Antecedentes: Los trastornos musculo-esqueléticos son una de las primeras causas de ausentismo laboral y afectan con mayor frecuencia columna y miembros. El personal de enfermería está expuesto a riesgo biomecánico superior dado por la manipulación manual de pacientes. Estimar la magnitud de asociación entre dolor osteo-muscular y carga biomecánica por movilización de pacientes en personal de enfermería y, los factores que modifican tal efecto, es de gran importancia en el ámbito laboral en...

Relación entre los niveles de flexibilidad de la cadena muscular posterior y lesiones músculo tendinosas en jugadores de rugby

OpenAIRE

Alessio, Germán

2015-01-01

La práctica de rugby produce posturas hipertónicas que traen como consecuencia un acortamiento de los músculos de la cadena posterior, lo que lleva aparejado una reducción de la flexibilidad. Objetivo: Establecer la relación entre los niveles de flexibilidad de la cadena muscular posterior con la cantidad de lesiones músculo-tendinosas en jugadores de rugby. Material y Métodos: La investigación es no experimental, transversal y descriptiva. Se evalúo la flexibilidad a través de un cajón...

The Role of Adiposity in the Association between Muscular Fitness and Cardiovascular Disease.

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Pérez-Bey, Alejandro; Segura-Jiménez, Víctor; Fernández-Santos, Jorge Del Rosario; Esteban-Cornejo, Irene; Gómez-Martínez, Sonia; Veiga, Oscar L; Marcos, Ascensión; Castro-Piñero, José

2018-05-11

To test the associations of muscular fitness and body mass index (BMI), individually and combined, with clustered cardiovascular disease risk factors in children and adolescents and to analyze the mediator role of BMI in the association between muscular fitness and clustered cardiovascular disease risk factors. In total, 239 children (113 girls) and 270 adolescents (128 girls) participated in this cross-sectional study. Height and weight were assessed, and BMI was calculated. A cardiovascular disease risk factors index (CVDRF-I) was created from the combination of the following variables: waist circumference, systolic blood pressure, triglycerides, high-density lipoprotein cholesterol, and glucose. Handgrip strength/weight and standing long jump tests were used to assess muscular fitness. A muscular fitness index was computed from the combination of both tests. Muscular fitness index was associated with CVDRF-I in children of both sexes and adolescent boys; however, these associations disappeared after accounting for BMI. BMI was associated with CVDRF-I in both children and adolescents, even after adjusting for muscular fitness (all P < .001). In male and female children and in adolescent boys, the association between muscular fitness and CVDRF-I was mediated by BMI (all P < .001). Because there was no association between muscular fitness and CVDRF-I in adolescent girls, the mediation hypothesis was discarded. BMI is an independent predictor of CVDRF-I in children and adolescents of both sexes. Conversely, the effect of muscular fitness on CVDRF-I seems to be fully mediated by BMI levels in male and female children and in adolescent boys. Copyright © 2018 Elsevier Inc. All rights reserved.

Development of Non-Hormonal Steroids for the Treatment of Duchenne Muscular Dystrophy

Science.gov (United States)

2013-02-01

constructs envisioned in gene therapy, are also expressed in Becker muscular dystrophy (alleles of dystrophinopathy leading to milder disease). In other words...the Treatment of Duchenne Muscular Dystrophy PRINCIPAL INVESTIGATOR: Terence Partridge, PhD CONTRACTING ORGANIZATION: Children’s...Duchenne Muscular Dystrophy 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-11-1-0754 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Terence Partridge

How Physicians Support Mothers of Children with Duchenne Muscular Dystrophy.

Science.gov (United States)

Fujino, Haruo; Saito, Toshio; Matsumura, Tsuyoshi; Shibata, Saki; Iwata, Yuko; Fujimura, Harutoshi; Shinno, Susumu; Imura, Osamu

2015-09-01

Communicating about Duchenne muscular dystrophy and its prognosis can be difficult for affected children and their family. We focused on how physicians provide support to the mothers of children with Duchenne muscular dystrophy who have difficulty communicating about the condition with their child. The eligible participants were certified child neurologists of the Japanese Society of Child Neurology. Participants responded to questionnaires consisting of free descriptions of a vignette of a child with Duchenne muscular dystrophy and a mother. We analyzed 263 responses of the participants. We found 4 themes on advising mothers, involving encouraging communication, family autonomy, supporting family, and considering the child's concerns. These results provide a better understanding of the communication between physicians and family members who need help sharing information with a child with Duchenne muscular dystrophy. These findings will assist clinical practitioners in supporting families and the affected children throughout the course of their illness. © The Author(s) 2015.

Serum creatinine level: a supplemental index to distinguish Duchenne muscular dystrophy from Becker muscular dystrophy.

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Zhang, Huili; Zhu, Yuling; Sun, Yiming; Liang, Yingyin; Li, Yaqin; Zhang, Yu; Deng, Langhui; Wen, Xingxuan; Zhang, Cheng

2015-01-01

To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn) level reflects disease severity. Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. 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 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). Serum Crn level reflected disease severity and may serve as a supplemental index to distinguish DMD from BMD in clinical practice.

Dano muscular: resposta inflamatória sistêmica após ações excêntricas máximas Daño muscular: respuesta inflamatoria sistémica después de acciones excéntricas máximas Muscle damage: systemic inflammatory response after maximal eccentric actions

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Ricardo Paes de Barros Berton

2012-09-01

Full Text Available O objetivo deste estudo foi analisar a resposta inflamatória induzida por grande número de ações excêntricas (AE máximas realizadas pelos flexores do cotovelo. Participaram do estudo nove homens jovens, que realizaram 35 séries de seis AE nos flexores de cotovelo, com intervalo de um minuto, utilizando um dinamômetro isocinético em uma velocidade de 210º.s-1. As variáveis mensuradas foram: a contração isométrica voluntaria máxima (CIVM, a amplitude de movimento (AM, a dor muscular de inicio tardio (DMIT, a interleucina-6 (IL-6 e o fator de necrose tumoral alfa (TNF-α. Alterações significantes foram observadas para os marcadores indiretos de dano muscular (CIVM, AM e DMIT, entretanto não houve modificações para os marcadores inflamatórios (IL-6 e TNF-α. Em conclusão, os resultados demonstraram que mesmo com alterações nos marcadores indiretos de dano muscular após a realização de um grande número de AE não foram observadas alterações na resposta inflamatória sistêmica.El objetivo del presente estudio fue analizar la magnitud de la respuesta inflamatoria inducida por un gran número de acciones excéntricas (AE de los flexores del codo. Han participado del estudio nueve jóvenes que llevaron a cabo 35 series de seis AE de los flexores del codo, con un intervalo de un minuto, utilizando un dinamómetro isocinético a 210º.s-1. Fueran mensurados la máxima contracción voluntaria isométrica (CIVM, la amplitud de movimiento (AM, el dolor muscular de aparición tardía (DMIT, la interleucina 6 (IL-6 y el factor de necrosis tumoral alfa (TNF-α. Se observaron cambios significativos para los marcadores de daño muscular (CIVM, AM y DMIT, sin embargo, no hubo cambios en los marcadores de inflamación IL-6 y TNF-α. En conclusión, los resultados indican que mismo con un gran número de AE y cambios en los marcadores indirectos de daño muscular, no se observaron cambios en la respuesta inflamatoria sist

The drive for muscularity in men: media influences and objectification theory.

Science.gov (United States)

Daniel, Samantha; Bridges, Sara K

2010-01-01

Presently, objectification theory has yielded mixed results when utilized to explain body image concerns in men. An online survey assessing internalization of media ideals, self-objectification, body surveillance, body shame, the drive for muscularity, and body mass index (BMI) was completed by 244 predominantly college-aged males. Path analyses were used to investigate relationships among these variables where it was hypothesized that objectification variables would mediate the relationship between internalization of media ideals and the drive for muscularity. Internalization of media ideals was the strongest predictor of the drive for muscularity, followed by BMI, though variables of objectification theory had no impact on the drive for muscularity contrary to hypotheses. The results suggest that objectification theory may not be applicable to men as it is currently measured. Copyright 2009 Elsevier Ltd. All rights reserved.

Correlação entre a suplementação de proteína e carboidrato e variáveis antropométricas e de força em indivíduos submetidos a um programa de treinamento com pesos Correlación entre la suplementación de proteínas e hidratos de carbono con las variables antropométricas y de fuerza en individuos sometidos a un programa de entrenamiento con pesos Correlation between the protein and carbohydrate supplement and anthropometric and strength variables in individuals submitted to a resistance training program

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Patrícia Veiga de Oliveira

2006-02-01

Full Text Available A grande maioria dos indivíduos que aderem a programas regulares de exercícios com pesos têm grande preocupação estética que se resume ao aumento da força e massa musculares à custa do treinamento associado à suplementação. O objetivo deste trabalho foi verificar se a ingestão de uma dieta hiperprotéica (4g.kg¹.d¹, aliada ao treinamento, provoca maior aumento da massa muscular e força quando comparado com o padrão dietético normoprotéico. METODOLOGIA: Dezesseis voluntários foram divididos em dois grupos segundo a suplementação: com proteína (HP, perfazendo 4g.kg-1.d-1, e com carboidrato (NP, na quantidade calórica da suplementação protéica (225g.d¹. Os dois grupos foram submetidos ao treinamento com pesos para os músculos bíceps e tríceps, três vezes por semana durante oito semanas. Foram analisados a força, massa muscular, área de secção transversa muscular, cortisol e insulina. RESULTADOS: O grupo HP apresentou maior consumo de proteína e o grupo NP, de carboidrato. Os grupos também apresentaram diferença nos valores de cortisol. O grupo NP apresentou correlação positiva entre o maior aumento na ingestão de carboidrato (% e o aumento da área M, e também entre a força para o exercício tríceps francês (TFR2 e o aumento da massa muscular e a maior ingestão de carboidrato. CONCLUSÃO: Sugere-se que a correlação entre a ingestão de carboidrato e o aumento da área muscular e da força para o exercício tríceps francês pelo grupo NP esteja relacionada à situação metabólica favorável para síntese protéica.La gran mayoría de los individuos que se adhieren a los programas regulares de ejercicios con pesos tienen gran preocupación estética que se resume al aumento de la fuerza y masa muscular con empleo del entrenamiento asociado a la suplementación. El objetivo de este trabajo era verificar la ingestión de una dieta hiperprotéica (4g.kg-1.d-1, unido al entrenamiento que provoca un

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.

Science.gov (United States)

Anthony, Karen; Cirak, Sebahattin; Torelli, Silvia; Tasca, Giorgio; Feng, Lucy; Arechavala-Gomeza, Virginia; Armaroli, Annarita; Guglieri, Michela; Straathof, Chiara S; Verschuuren, Jan J; Aartsma-Rus, Annemieke; Helderman-van den Enden, Paula; Bushby, Katherine; Straub, Volker; Sewry, Caroline; Ferlini, Alessandra; Ricci, Enzo; Morgan, Jennifer E; Muntoni, Francesco

2011-12-01

Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy phenotype to that of the milder disorder, Becker muscular dystrophy, typically caused by in-frame dystrophin deletions that allow the production of an internally deleted but partially functional dystrophin. There is ongoing debate regarding the functional properties of the different internally deleted dystrophins produced by exon skipping for different mutations; more insight would be valuable to improve and better predict the outcome of exon skipping clinical trials. To this end, we have characterized the clinical phenotype of 17 patients with Becker muscular dystrophy harbouring in-frame deletions relevant to on-going or planned exon skipping clinical trials for Duchenne muscular dystrophy and correlated it to the levels of dystrophin, and dystrophin-associated protein expression. The cohort of 17 patients, selected exclusively on the basis of their genotype, included 4 asymptomatic, 12 mild and 1 severe patient. All patients had dystrophin levels of >40% of control and significantly higher dystrophin (P = 0.013), β-dystroglycan (P = 0.025) and neuronal nitric oxide synthase (P = 0.034) expression was observed in asymptomatic individuals versus symptomatic patients with Becker muscular dystrophy. Furthermore, grouping the patients by deletion, patients with Becker muscular dystrophy with deletions with an end-point of exon 51 (the skipping of which could rescue the largest group of Duchenne muscular dystrophy deletions) showed significantly higher dystrophin levels (P = 0.034) than those with deletions ending with exon 53. This is the first quantitative study on both

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

Energy Technology Data Exchange (ETDEWEB)

Horikawa, Hirosei; Mano, Yukio; Takayanagi, Tetsuya [Nara Medical Univ., Kashihara (Japan); Takahashi, Keiichi; Nishio, Hisahide

1992-10-01

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).

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

International Nuclear Information System (INIS)

Horikawa, Hirosei; Mano, Yukio; Takayanagi, Tetsuya; Takahashi, Keiichi; Nishio, Hisahide.

1992-01-01

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)

A case of muscular sarcoidosis diagnosed by gallium-67 scintigraphy and magnetic resonance imaging

International Nuclear Information System (INIS)

Sohn, Hyung Sun; Kim, Euy Neyng

1999-01-01

Gallium-67 scintigraphy is helpful in the assessment of active extrapulmonary sarcoidosis. Muscular involvement of sarcoidosis is often asymptomatic or nonspecific, and laboratory examinations do not provide convincing evidence of muscular involvement. We report a case of muscular sarcoidosis, which was detected by gallium-67 scintigraphy. In a patient who was suffering from fever and arthalgia of knee joint, gallium-67 scintigraphy showed mediastinal and hilar involvement of sarcoidosis with unexpected extensive muscular uptake. Magnetic resonance imaging revealed the detailed depiction of intramuscular infiltration of sarcoid granuloma. Gallium-67 scintigraphy is useful in detecting inflammatory muscular involvement of sarcoidosis as well as other multiorgan involvement

Inherited myopathies and muscular dystrophies

NARCIS (Netherlands)

Cardamone, Michael; Darras, Basil T.; Ryan, Monique M.

The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and

Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.

Science.gov (United States)

Wein, Nicolas; Alfano, Lindsay; Flanigan, Kevin M

2015-06-01

Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe Duchenne muscular dystrophy typically presents around ages 2 to 5 with gait disturbance, and historically has led to the loss of ambulation by age 12. It is important for the practicing pediatrician, however, to be aware of other presenting signs, such as delayed motor or cognitive milestones, or elevated serum transaminases. Becker muscular dystrophy is milder, often presenting after age 5, with ambulation frequently preserved past 20 years and sometimes into late decades. Copyright © 2015 Elsevier Inc. All rights reserved.

Limb girdle muscular dystrophy due to mutations in POMT2

DEFF Research Database (Denmark)

Østergaard, Sofie Thurø; Johnson, Katherine; Stojkovic, Tanya

2018-01-01

BACKGROUND: Mutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four...

Primary muscular hydatid: preoperative diagnosis Throught computerized tomography and ultrasonography

International Nuclear Information System (INIS)

Macho Fernandez, J.M.; Marin Cardenas, M.A.; Mazas Artasona, L.; Lample Lacasa, C.; Otero Sierra, C.; Hernandez Navarrete, M.J.; Gomez-Pereda, R.

1995-01-01

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

Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy.

Science.gov (United States)

Holtzer, Caleb; Meaney, F John; Andrews, Jennifer; Ciafaloni, Emma; Fox, Deborah J; James, Katherine A; Lu, Zhenqiang; Miller, Lisa; Pandya, Shree; Ouyang, Lijing; Cunniff, Christopher

2011-11-01

To determine whether sociodemographic factors are associated with delays at specific steps in the diagnostic process of Duchenne and Becker muscular dystrophy. We examined abstracted medical records for 540 males from population-based surveillance sites in Arizona, Colorado, Georgia, Iowa, and western New York. We used linear regressions to model the association of three sociodemographic characteristics with age at initial medical evaluation, first creatine kinase measurement, and earliest DNA analysis while controlling for changes in the diagnostic process over time. The analytical dataset included 375 males with information on family history of Duchenne and Becker muscular dystrophy, neighborhood poverty levels, and race/ethnicity. Black and Hispanic race/ethnicity predicted older ages at initial evaluation, creatine kinase measurement, and DNA testing (P Becker muscular dystrophy predicted younger ages at initial evaluation, creatine kinase measurement and DNA testing (P Becker muscular dystrophy are evident even after adjustment for family history of Duchenne and Becker muscular dystrophy and changes in the diagnostic process over time. Black and Hispanic children are initially evaluated at older ages than white children, and the gap widens at later steps in the diagnostic process.

FDG-PET imaging of lower extremity muscular activity during level walking

International Nuclear Information System (INIS)

Oi, Naoyuki; Iwaya, Tsutomu; Tobimatsu, Yoshiko; Fujimoto, Toshihiko; Itoh, Masatoshi; Yamaguchi, Keiichiro

2003-01-01

We analyzed muscular activity of the lower extremities during level walking using positron emission tomography (PET) with 18 F-fluorodeoxyglucose ( 18 F-FDG). We examined 17 healthy male subjects; 11 were assigned to a walking group and 6 to a resting group. After 18 F-FDG injection, the walking group subjects walked at a free speed for 15 min. A whole-body image was then obtained by a PET camera, and the standardized uptake ratio (SUR) was computed for each muscle. The SUR for each muscle of the walking group was compared with that for the corresponding muscles in the resting group. The level of muscular activity of all the muscles we examined were higher during level walking than when resting. The activity of the lower leg muscles was higher than that of the thigh muscles during level walking. The muscular activity of the soleus was highest among all the muscles examined. Among the gluteal muscles, the muscular activity of the gluteus minimus was higher than that of the gluteus maximus and gluteus medius. The concurrent validity of measuring muscular activity of the lower extremity during level walking by the PET method using 18 F-FDG was demonstrated. (author)

Men, Muscles, and Eating Disorders: an Overview of Traditional and Muscularity-Oriented Disordered Eating.

Science.gov (United States)

Lavender, Jason M; Brown, Tiffany A; Murray, Stuart B

2017-06-01

There is growing recognition that eating disorder (ED) symptoms, particularly those of a muscularity-oriented nature, are more common in men than previously understood. The purpose of the current review is to describe contemporary directions and implications of research on traditional and muscularity-oriented ED symptoms among males. Evidence indicates that ED symptoms occur in a substantial minority of men. Importantly, recent research has focused on muscularity-oriented body image and disordered eating in males, demonstrating the prevalence, correlates, and consequences of maladaptive muscularity-oriented attitudes and behaviors. A growing number of assessments are available to measure these constructs in males, and preliminary treatment considerations have begun to be addressed in the literature. Research on male EDs and body image is increasingly focusing on muscularity-oriented manifestations. Continued empirical work will be critical to improve our understanding of the onset, maintenance, and treatment of muscularity-oriented disordered eating in males.

Dysphagia in facioscapulohumeral muscular dystrophy.

NARCIS (Netherlands)

Wohlgemuth, M.; Swart, B.J.M. de; Kalf, J.G.; Joosten, F.B.M.; Vliet, A.M. van der; Padberg, G.W.A.M.

2006-01-01

Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy (FSHD). In this study, the authors found that dysphagia does occur in patients with advanced FSHD showing mild involvement of the jaw and lingual muscles. Dysphagia is seldom life threatening in these patients. The

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

NARCIS (Netherlands)

van der Kooi, A. J.; Bonne, G.; Eymard, B.; Duboc, D.; Talim, B.; van der Valk, M.; Reiss, P.; Richard, P.; Demay, L.; Merlini, L.; Schwartz, K.; Busch, H. F. M.; de Visser, M.

2002-01-01

Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy

Contribuição da tomografia de coerência óptica de 820 nm na distrofia granular corneana: relato de caso Contribution of 820 nm optical coherence tomography in granular corneal dystrophy: case report

Directory of Open Access Journals (Sweden)

Beatriz de Abreu Fiuza Gomes

2008-10-01

Full Text Available O objetivo deste trabalho é correlacionar os dados clínicos de um caso de distrofia granular com o exame de tomografia de coerência óptica (OCT de 820 nm de modo a determinar o nível intra-estromal dos depósitos corneanos. É relatado um caso de distrofia granular em paciente de 38 anos do sexo masculino. Foi realizado exame oftalmológico completo e OCT para documentação do caso. O aparelho utilizado foi o Stratus OCT III, originalmente desenvolvido para avaliação do segmento posterior. A acuidade visual corrigida foi de 20/50 em ambos os olhos. À biomicroscopia, foram observadas opacidades em "floco de neve" em diferentes níveis do estroma corneano bilateral e de forma simétrica. A avaliação pelo OCT revelou múltiplos pontos hiperreflectivos nas camadas superficiais e profundas do estroma. Foi possível acessar a anatomia morfológica da córnea através de cortes seriados realizados pelo Stratus OCT III e confirmar a profundidade dos depósitos corneanos.The purpose of this case report is to correlate clinical features of granular dystrophy using 820 nm optical coherence tomography (OCT in order to determine the depth of intrastromal corneal deposits. We report a case of a 38-year-old man with granular dystrophy. After complete ophthalmologic examination the patient was submitted to OCT, using the Stratus OCT III, originally proposed for studying disorders of the posterior segment. Best-corrected visual acuity was 20/50 in both eyes. Biomicroscopy revealed bilateral "snowflake"opacities in different levels of the stromal layer. OCT disclosed multiple hiperreflective dots in anterior and deeper stromal layers. It was possible to assess the morphology of the cornea and to determine the depth of the corneal deposits with serial cross-sectional OCT scans using the Stratus OCT III.

Predicting muscularity-related behavior, emotions, and cognitions in men: The role of psychological need thwarting, drive for muscularity, and mesomorphic internalization.

Science.gov (United States)

Edwards, Christian; Tod, David; Molnar, Gyozo; Markland, David

2016-09-01

We examine the relationships that internalization, need thwarting (NT), and drive for muscularity (DFM), along with their interactions, had with weightlifting, muscle dissatisfaction (MD), and muscle-related-worry (MRW). A sample of 552 men (MAge=20.5 years, SD=3.1) completed the Psychological Need Thwarting Scale, the Internalization subscale of the male version of the Sociocultural Attitudes Towards Appearance Questionnaire, the Drive for Muscularity Scale-Attitudes subscale, the Male Body Attitudes Scale-Muscularity subscale, the Body Change Inventory-Worry subscale, and an inventory assessing weightlifting behavior. DFM significantly predicted weightlifting, MRW, and MD. Internalization significantly predicted weightlifting and MRW. NT significantly predicted weightlifting and MD, and its relationship with MRW approached significance. The interaction terms did not predict weightlifting or MRW. The NT/DFM and NT/Internalization interaction terms predicted MD. These results highlight the role of NT in predicting appearance variables in men. Copyright © 2016 Elsevier Ltd. All rights reserved.

Pulmonary Endpoints in Duchenne Muscular Dystrophy. A Workshop Summary.

Science.gov (United States)

Finder, Jonathan; Mayer, Oscar Henry; Sheehan, Daniel; Sawnani, Hemant; Abresch, R Ted; Benditt, Joshua; Birnkrant, David J; Duong, Tina; Henricson, Erik; Kinnett, Kathi; McDonald, Craig M; Connolly, Anne M

2017-08-15

Development of novel therapeutics for treatment of Duchenne muscular dystrophy (DMD) has led to clinical trials that include pulmonary endpoints that allow assessment of respiratory muscle status, especially in nonambulatory subjects. Parent Project Muscular Dystrophy (PPMD) convened a workshop in Bethesda, Maryland, on April 14 and 15, 2016, to summarize published respiratory data in DMD and give guidance to clinical researchers assessing the effect of interventions on pulmonary outcomes in DMD.

Paniculitis en paciente con dermatomiositis Panniculitis in a patient with dermatomyositis

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Mariana Arias

2011-02-01

Full Text Available La paniculitis es una manifestación cutánea infrecuente de la dermatomiositis. Puede preceder hasta en 14 meses a otras manifestaciones de la dermatomiositis. En todos los casos, la miositis y la paniculitis presentan mejoría simultánea durante el tratamiento. Describimos una paciente de sexo femenino de 30 años que presenta lesiones clínica e histológicamente compatibles con paniculitis luego de 2 meses de que el compromiso muscular y cutáneo permitió el diagnóstico de dermatomiositis. Las lesiones cutáneas remitieron con el tratamiento esteroideo.Panniculitis is a rarely reported clinical finding in dermatomyositis. It may precede the other manifestations associated with dermatomyositis by as much as 14 months. In all cases, myositis and panniculitis improve simultaneously during treatment. The present report describes the case of a 30-year-old female patient with clinical and histopathological findings consistent with panniculitis two months after the onset of the muscle and cutaneous symptoms that permitted diagnosis of dermatomyositis. The skin lesions regressed following steroid treatment.

Thinness and muscularity internalization: Associations with disordered eating and muscle dysmorphia in men.

Science.gov (United States)

Klimek, Patrycja; Murray, Stuart B; Brown, Tiffany; Gonzales Iv, Manuel; Blashill, Aaron J

2018-04-01

The tripartite influence model of body image identifies internalization of societal body ideals as a risk factor for developing body dissatisfaction, and subsequent disordered eating behavior. In men, internalization of two dimensions of body image ideals, thinness and muscularity, is associated with body dissatisfaction and eating concerns. However, it is unknown how thinness and muscularity internalization interact in predicting muscle dysmorphia and disordered eating in men. Data were collected online from 180 undergraduate men, with ages ranging from 18 to 33 years (19.6, SD = 2.6). Regression models were used to test the interactive effects of thinness and muscularity internalization on (a) muscle dysmorphia symptoms and (b) disordered eating. Subsequent simple slope analyses probed effects at the mean, and ±1 standard deviation of thinness internalization. Muscularity and thinness internalization were independently positively related to muscle dysmorphia symptoms and disordered eating. Additionally, a significant interaction revealed that muscularity internalization was increasingly related to muscle dysmorphia symptoms as thinness internalization decreased. Men who internalized the muscular ideal had higher levels of muscle dysmorphia when they did not highly internalize the thin ideal. However, greater internalization of both the muscularity and thin ideal independently may be most relevant in the development of disordered eating in men. Future research is needed to explore variability in experiences of muscle dysmorphia compared with disordered eating in males. © 2018 Wiley Periodicals, Inc.

Determinants of the epithelial-muscular axis on embryonic stem cell-derived gut-like structures.

Science.gov (United States)

Luo, Yi; Takaki, Miyako; Misawa, Hiromi; Matsuyoshi, Hiroko; Sasahira, Tomonori; Chihara, Yoshitomo; Fujii, Kiyomu; Ohmori, Hitoshi; Kuniyasu, Hiroki

2010-01-01

Dome-like structures with epithelial-muscular layers resembling the gut have been derived from mouse embryonic stem (ES) cells. These domes have been reported to show spontaneous contractions and are called ES gut. In the present study, we examined the epithelial-muscular axis of these domes by detecting differentiation markers. A normal epithelial-muscular axis was exhibited in the domes with spontaneous motility, whereas the domes without spontaneous motility showed either an inverted or obscure axis. To investigate the factors affecting the epithelial-muscular axis, we examined the expression of hedgehog signaling factors in the domes. Expression of hedgehog family factors was detected in the epithelial components of the domes with motility, whereas this expression was inverted or obscure in the domes without motility. Out of the 25 domes, 10 of the 10 motility (+) domes showed a normal epithelial-muscular axis, whereas 14 of the 15 motility (-) domes lacked a normal epithelial-muscular axis. This implies that activin A upregulated the expression of sonic hedgehog and intestinal alkaline phosphatase in the embryoid bodies. These findings suggest that the motility of the ES gut depends on the domes' epithelial-muscular axis. Copyright © 2010 S. Karger AG, Basel.

Predicting drive for muscularity behavioural engagement from body image attitudes and emotions.

Science.gov (United States)

Tod, David; Edwards, Christian

2013-01-01

We examined the potential moderating effects of appearance investment, body image disturbance, and situational body image dysphoria on the drive for muscularity attitude-behaviour relationship. Participants (339 British college men, M(AGE)=20.00 years, SD=2.59) completed drive for muscularity attitude and behaviour, appearance investment, body image disturbance, and situational body image dysphoria measures. Results indicated higher levels of appearance investment, body image disturbance, and situational body image dysphoria were associated with increases in the drive for muscularity attitude's relationship with physique-enhancing behavioural engagement. Results help extend recent research that has moved beyond identifying correlates to examining ways that groups of variables interact to predict drive for muscularity behavioural engagement and may contribute to theory development. Copyright © 2012 Elsevier Ltd. All rights reserved.

Prevention of pectus excavatum for children with spinal muscular atrophy type 1.

Science.gov (United States)

Bach, John R; Bianchi, Carlo

2003-10-01

To demonstrate the elimination of pectus excavatum and promotion of more normal lung growth and chest wall development by the use of high-span positive inspiratory pressure plus positive end-expiratory pressure (PIP+PEEP), patients with spinal muscular atrophy type 1 with paradoxical breathing were placed on high-span PIP+PEEP when sleeping from the point of diagnosis of spinal muscular atrophy. Although the appearance of pectus excavatum is ubiquitous in untreated infants with spinal muscular atrophy type 1, after institution of high-span PIP+PEEP, pectus resolves and lungs and chest walls grow more normally. High-span PIP+PEEP is indicated for all infants diagnosed with spinal muscular atrophy who demonstrate paradoxical breathing for the purpose of promoting more normal lung and chest development.

Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic calves

NARCIS (Netherlands)

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

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

Some Dynamics of Personality Development in Boys Suffering from Muscular Dystrophy

Science.gov (United States)

Mearig, Judith S.

1973-01-01

Discussed are personality aspects of Duchenne or pseudohypertrophic muscular dystrophy, a progressive wasting of muscular tissue, which afflicts only boys, and usually has its noticeable onset before the age of 6 years; and described is the development of three male dystrophic siblings. (DB)

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.

[Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy].

Science.gov (United States)

Silva, Helga Cristina Almeida da; Hiray, Marcia; Vainzof, Mariz; Schmidt, Beny; Oliveira, Acary Souza Bulle; Amaral, José Luiz Gomes do

2017-05-31

Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU.L -1 (normal 174IU.L -1 ). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia. Copyright © 2017 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

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Oriana del Rocío Cruz Guzmán

2012-01-01

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

Efectos del entrenamiento con vibraciones mecánicas sobre la ‘performance’ neuromuscular

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Marzo Edir Da Silva

2006-03-01

Full Text Available Hace ya varias décadas que se estudian los efectos de las vibraciones sobre el organismo humano. En un principio se evaluaban estos efectos con respecto a patologías producidas por la exposición prolongada de tipo ocupacional. Sin embargo, se empezaron a hacer estudios sobre el posible beneficio de la aplicación de la vibración en deportistas y a la luz de los primeros hallazgos se concluyó que se producía una mejora en la flexibilidad. Fue el ruso Nazarov quien realizó esos primeros estudios con atletas, aplicando una vibración local. Poco a poco fueron surgiendo diversos estudios sobre la vibración local o aplicada a todo el cuerpo (WBV pero en otras variables como son la fuerza, la potencia y la capacidad de salto. A pesar de que no hay un consenso en la aplicación de protocolos de entrenamiento y los resultados que se obtienen, el entrenamiento con WBV está en auge porque parece ofrecer unos resultados benéficos de manera más rápida que el entrenamiento convencional. El propósito del presente artículo es realizar una revisión bibliográfica sobre la evolución del entrenamiento de WBV con sus aplicaciones y efectos sobre la performance muscular.

X-ray diagnostic sign for the differentiation of neurogenic and primary muscular diseases

International Nuclear Information System (INIS)

Palvoelgyi, R.; Gallai, M.

1981-01-01

The authors give an account of X-ray examinations of the limb musculature of 70 patients suffering from neurogenic muscular diseases, 42 suffering from primary muscular diseases and 45 suffering from senile degeneration of the muscles. Different degree of damage to different parts of the same muscle could only been observed in one case of neurogenic atrophy (in the postpoliomyelitic states) and in two cases of senile degeneration, while it was found in 11 cases (20%) for the other muscular diseases. In the latter cases the more severe muscle damage, which could be demonstrated radiographically, was always found in the part of the muscle adjacent to a tendon. On the above reasons the authors consider that radiographically demonstrable partial or uneven damage to any particular muscle can be used as a new diagnostical information in distinguishing muscular diseases from neurogenic muscular atrophy. (orig.) [de

Nodular type of muscular sarcoidosis : a case report

International Nuclear Information System (INIS)

Chae, Soo Hyun; Kim, Hong Soo; Park, Sook Hee; Kim, Sung Me

1999-01-01

Muscular involvement of sarcoidosis is rare and occurs in two forms:nodular and myopathic. In the nodular variety, lesions are long and extend along muscle fibers. Axial MR imaging reveals a star-shaped central structure of decreased signal intensity. Sagittal and coronal MR images show three stripes:an inner stripe of decreased signal intensity and outer stripes of increased signal intensity. Longitudinal sonography shows an echogenic inner stripe and hypoechoic outer stripes. We report a case of nodular- type muscular sarcoidosis in a 53-year-old man, describing the findings of MRI and ultrasonography

Muscular forearm activation in hand-grip tasks with superimposition of mechanical vibrations.

Science.gov (United States)

Fattorini, L; Tirabasso, A; Lunghi, A; Di Giovanni, R; Sacco, F; Marchetti, E

2016-02-01

The purpose of this paper is to evaluate the muscular activation of the forearm, with or without vibration stimuli at different frequencies while performing a grip tasks of 45s at various level of exerted force. In 16 individuals, 9 females and 7 males, the surface electromyogram (EMG) of extensor carpi radialis longus and the flexor carpi ulnari muscles were assessed. At a short latency from onset EMG, RMS and the level of MU synchronization were assessed to evaluate the muscular adaptations. Whilst a trend of decay of EMG Median frequency (MDFd) was employed as an index of muscular fatigue. Muscular tasks consists of the grip of an instrumented handle at a force level of 20%, 30%, 40%, 60% of the maximum voluntary force. Vibration was supplied by a shaker to the hand in mono-frequential waves at 20, 30, 33 and 40Hz. In relation to EMG, RMS and MU synchronization, the muscular activation does not seem to change with the superimposition of the mechanical vibrations, on the contrary a lower MDFd was observed at 33Hz than in absence of vibration. This suggests an early muscular fatigue induced by vibration due to the fact that 33Hz is a resonance frequency for the hand-arm system. Copyright © 2015 Elsevier Ltd. All rights reserved.

Bortezomib partially improves laminin α2 chain-deficient muscular dystrophy.

Science.gov (United States)

Körner, Zandra; Fontes-Oliveira, Cibely C; Holmberg, Johan; Carmignac, Virginie; Durbeej, Madeleine

2014-05-01

Congenital muscular dystrophy, caused by mutations in LAMA2 (the gene encoding laminin α2 chain), is a severe and incapacitating disease for which no therapy is yet available. We have recently demonstrated that proteasome activity is increased in laminin α2 chain-deficient muscle and that treatment with the nonpharmaceutical proteasome inhibitor MG-132 reduces muscle pathology in laminin α2 chain-deficient dy(3K)/dy(3K) mice. Here, we explore the use of the selective and therapeutic proteasome inhibitor bortezomib (currently used for treatment of relapsed multiple myeloma and mantle cell lymphoma) in dy(3K)/dy(3K) mice and in congenital muscular dystrophy type 1A muscle cells. Outcome measures included quantitative muscle morphology, gene and miRNA expression analyses, proteasome activity, motor activity, and survival. Bortezomib improved several histological hallmarks of disease, partially normalized miRNA expression (miR-1 and miR-133a), and enhanced body weight, locomotion, and survival of dy(3K)/dy(3K) mice. In addition, bortezomib reduced proteasome activity in congenital muscular dystrophy type 1A myoblasts and myotubes. These findings provide evidence that the proteasome inhibitor bortezomib partially reduces laminin α2 chain-deficient muscular dystrophy. Investigation of the clinical efficacy of bortezomib administration in congenital muscular dystrophy type 1A clinical trials may be warranted. Copyright © 2014 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

Polimiositis con incapacidad ventilatoria e insuficiencia respiratoria

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O. Lopez Gaston

2003-10-01

Full Text Available Las miopatías inflamatorias son un grupo de enfermedades caracterizadas por debilidad muscular proximal y las causas mayores incluyen la polimiositis (PM, dermatomiositis y miositis por cuerpos de inclusión. Las complicaciones respiratorias son comunes y adquieren importancia por la incidencia sobre el pronóstico. Las tres formas de compromiso frecuentes son la enfermedad pulmonar intersticial, la neumopatía aspirativa y la incapacidad ventilatoria (IV por debilidad de los músculos respiratorios, que en su forma severa es de ocurrencia excepcional. Se presenta una paciente con IV sin compromiso del parénquima pulmonar, que requirió asistencia respiratoria mecánica por 4 meses con «destete» exitoso.The inflammatory diseases of muscle are a group of disorders characterized by proximal muscle weakness. Most cases fall into three major diagnostic categories, polymyositis (PM, dermatomyositis and inclusion body myositis. Respiratory complications are a common feature and are an important cause of morbidity and mortality. The three main types of pulmonary involvement are interstitial lung disease, aspiration pneumonia and ventilatory incapacity (VI due to muscle weakness. There are few reported cases in which mechanical ventilation has been used in patients with PM and VI in absense of lung disease. We present a patient with PM and VI due to muscle weakness who underwent therapy maintenance with mechanical ventilator and was weaned 4 months later.

A preliminary study of muscular artifact cancellation in single-channel EEG.

Science.gov (United States)

Chen, Xun; Liu, Aiping; Peng, Hu; Ward, Rabab K

2014-10-01

Electroencephalogram (EEG) recordings are often contaminated with muscular artifacts that strongly obscure the EEG signals and complicates their analysis. For the conventional case, where the EEG recordings are obtained simultaneously over many EEG channels, there exists a considerable range of methods for removing muscular artifacts. In recent years, there has been an increasing trend to use EEG information in ambulatory healthcare and related physiological signal monitoring systems. For practical reasons, a single EEG channel system must be used in these situations. Unfortunately, there exist few studies for muscular artifact cancellation in single-channel EEG recordings. To address this issue, in this preliminary study, we propose a simple, yet effective, method to achieve the muscular artifact cancellation for the single-channel EEG case. This method is a combination of the ensemble empirical mode decomposition (EEMD) and the joint blind source separation (JBSS) techniques. We also conduct a study that compares and investigates all possible single-channel solutions and demonstrate the performance of these methods using numerical simulations and real-life applications. The proposed method is shown to significantly outperform all other methods. It can successfully remove muscular artifacts without altering the underlying EEG activity. It is thus a promising tool for use in ambulatory healthcare systems.

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

NARCIS (Netherlands)

Linssen, W. H.; Notermans, N. C.; van der Graaf, Y.; Wokke, J. H.; van Doorn, P. A.; Höweler, C. J.; Busch, H. F.; de Jager, A. E.; de Visser, M.

1997-01-01

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

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

NARCIS (Netherlands)

W.H.J.P. Linssen (Wim); N.C. Notermans (Nicolette); Y. van der Graaf (Yolanda); J.H.J. Wokke (John); P.A. van Doorn (Pieter); C.J. Höweler (Chris); H.F.M. Busch (Herman); A.E.J. de Jager (Aeiko); M. de Visser (Marianne)

1997-01-01

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

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

NARCIS (Netherlands)

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

1997-01-01

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

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....... METHODS: In a laboratory setting, 16 male and 16 female house painters performed nine standardised work tasks common to house painters. Unilateral electromyography (EMG) recordings were obtained from the supraspinatus muscle by intramuscular electrodes and from the trapezius, extensor and flexor carpi...... 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...

Adenopatía supraclavicular como forma de presentación de un carcinoma de cérvix asociado al complejo esclerosis tuberosa con linfangioleiomiomatosis

OpenAIRE

Pablo López Mato; Alfonso Varela Fariña; Elena Seco Hernández; Antonio J. Chamorro Fernández

2013-01-01

La linfangioleiomiomatosis es una proliferación del tejido muscular broncovascular que recientemente se ha definido como una expresión incompleta de la entidad “complejo esclerosis tuberosa”, una facomatosis a la que se asocian diversas neoplasias. Presentamos un caso de carcinoma de cérvix con metástasis supraclaviculares y cervicales, asociado a linfangioleiomiomatosis en el contexto de un “complejo esclerosis tuberosa”.

Cardio-Muscular Conditioner

Science.gov (United States)

1993-01-01

In the mid-sixties, Gary Graham, a Boeing designer, developed a cardiovascular conditioner for a planned Air Force orbiting laboratory. After the project was cancelled, Graham participated in space station conditioning studies for the Skylab program. Twenty years later, he used this expertise to develop the Shuttle 2000-1, a physical therapy and athletic development conditioner, available through Contemporary Designs. The machine is used by football teams, sports clinics and medical rehabilitation centers. Cardiovascular fitness and muscular strength development are promoted through both kinetic and plyometric exercises.

Trends with corticosteroid use in males with Duchenne muscular dystrophy born 1982-2001.

Science.gov (United States)

Fox, Deborah J; Kumar, Anil; West, Nancy A; DiRienzo, A Gregory; James, Katherine A; Oleszek, Joyce

2015-01-01

This study examines trends in corticosteroid use for males with Duchenne muscular dystrophy by birth year, race/ethnicity, and knowledge of Duchenne muscular dystrophy family history. Firstborn males (n = 521) selected from a population-based surveillance system of Duchenne muscular dystrophy were analyzed using Kaplan Meier and regression methods. Comparing males born 1982 to 1986 with males born 1997 to 2001, steroid use increased from 54% to 72% and mean age at steroid initiation decreased from 8.2 to 7.1 years. Hispanics and non-Hispanic Black males used steroids less frequently and delayed initiation compared to white males. Compared to males without a Duchenne muscular dystrophy family history, males with known family history were half as likely to use steroids. Duration of steroid use increased over time and age at initiation decreased. Racial/ethnic disparities exist for steroid use and should be addressed to improve outcome and quality of life for boys with Duchenne muscular dystrophy. © The Author(s) 2014.

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

International Nuclear Information System (INIS)

Horikawa, Hirosei; Konagaya, Masaaki; Takayanagi, Tetsuya; Otsuji, Hideaki

1985-01-01

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)

Muscular strength is associated with self-esteem in college men but not women.

Science.gov (United States)

Ciccolo, Joseph T; SantaBarbara, Nicholas J; Dunsiger, Shira I; Busch, Andrew M; Bartholomew, John B

2016-12-01

Muscular strength is a well-known predictor of morbidity and mortality. Similarly, self-esteem is a predictor of health and well-being. The relationship between these two variables, however, is currently unknown. This study examined the cross-sectional relationship between maximal muscular strength (i.e. handgrip and one-repetition-maximum (1-RM) squat) and global self-esteem in 126 college students. Significant correlations were found between both measures of muscular strength and self-esteem. Further analyses revealed that these relationships were only significant for men. Based on these results, additional research is needed to further explore the relationship between muscular strength and self-esteem, especially in other demographic groups and longitudinally. © The Author(s) 2015.

Autonomic Dysfunction in Muscular Dystrophy: A Theoretical Framework for Muscle Reflex Involvement

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Scott Alan Smith

2014-02-01

Full Text Available Muscular dystrophies are a heterogeneous group of genetically inherited disorders whose most prominent clinical feature is progressive degeneration of skeletal muscle. In several forms of the disease, the function of cardiac muscle is likewise affected. The primary defect in this group of diseases is caused by mutations in myocyte proteins important to cellular structure and/or performance. That being stated, a growing body of evidence suggests that the development of autonomic dysfunction may secondarily contribute to the generation of skeletal and cardio-myopathy in muscular dystrophy. Indeed, abnormalities in the regulation of both sympathetic and parasympathetic nerve activity have been reported in a number of muscular dystrophy variants. However, the mechanisms mediating this autonomic dysfunction remain relatively unknown. An autonomic reflex originating in skeletal muscle, the exercise pressor reflex, is known to contribute significantly to the control of sympathetic and parasympathetic activity when stimulated. Given the skeletal myopathy that develops with muscular dystrophy, it is logical to suggest that the function of this reflex might also be abnormal with the pathogenesis of disease. As such, it may contribute to or exacerbate the autonomic dysfunction that manifests. This possibility along with a basic description of exercise pressor reflex function in health and disease are reviewed. A better understanding of the mechanisms that possibly underlie autonomic dysfunction in muscular dystrophy may not only facilitate further research but could also lead to the identification of new therapeutic targets for the treatment of muscular dystrophy.

Distrofa miotónica congénita en una Unidad de Cuidados Intensivos Neonatales: serie de casos

OpenAIRE

Domingues, Sara; Alves Pereira, Clara; Machado, Ángela; Pereira, Sandra; Machado, Leonilde; Fraga, Carla; Oliveira, Abílio; Vale, Isabel; Quelhas, Ilídio

2014-01-01

La distrofia miotónica de Steinert es una enfermedad multisistémica, autosómica dominante, con un amplio espectro de gravedad y manifestaciones clínicas. La forma más grave es aquella que se manifesta en el periodo neonatal, llamada distrofa miotónica congénita. Se destaca la hipotonía global al nacer y el compromiso de la función respiratoria. Las complicaciones son frecuentes, principalmente, retraso del desarrollo psicomotor, del crecimiento pondoestatural, difcultades alimentarias y const...

Intraoperative closure of infant multiple muscular ventricular septal defects with Amplatzer occluder

International Nuclear Information System (INIS)

Liu Jinfen; Gao Wei; Zhu Zhongqun; Chen Huiwen; Zhang Yuqi

2005-01-01

Objective: To report the preliminary experience of intraoperative hybrid therapy for closure of multiple muscular ventricular septal defects (VSD) in a small infant. Methods: After median sternotomy, a AGA Amplatzer occluder was introduced through right ventricular surface to close 2 muscular ventricular septal defects under transesophageal echocardiographic guidance. Results: The infant survived after the treatment without residual shunting, and rehabilitated rapidly. Conclusions: Intraoperative hybrid therapy with combined surgical technique and interventional procedure for closure of multiple muscular VSD in small infant is a safe and effective method. (authors)

MR and ultrasound findings in a case of cerebro-oculo-muscular-syndrome

International Nuclear Information System (INIS)

Simma, B.; Maurer, H.; Gassner, I.; Krassnitzer, S.; Felber, S.

1990-01-01

We report on a boy with type II lissencephaly and congenital muscular dystrophy. The patient presented with the features of a cerebro-oculo-muscular-syndrome (COMS). We describe the clinical presentations and the characteristic sonographic and MR findings. (orig.)

Intramuscular renin-angiotensin system is activated in human muscular dystrophy.

Science.gov (United States)

Sun, Guilian; Haginoya, Kazuhiro; Dai, Hongmei; Chiba, Yoko; Uematsu, Mitsugu; Hino-Fukuyo, Naomi; Onuma, Akira; Iinuma, Kazuie; Tsuchiya, Shigeru

2009-05-15

To investigate the role of the muscular renin-angiotensin system (RAS) in human muscular dystrophy, we used immunohistochemistry and Western blotting to examine the cellular localization of angiotensin-converting enzyme (ACE), the angiotensin II type 1 receptor (AT1) and the angiotensin II type 2 receptor (AT2) in muscle biopsies from patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and congenital muscular dystrophy (CMD). In normal muscle, ACE was expressed in vascular endothelial cells and neuromuscular junctions (NMJs), whereas AT1 was immunolocalized to the smooth muscle cells of blood vessels and intramuscular nerve twigs. AT2 was immunolocalized in the smooth muscle cells of blood vessels. These findings suggest that the RAS has a functional role in peripheral nerves and NMJs. ACE and AT1, but AT2 immunoreactivity were increased markedly in dystrophic muscle as compared to controls. ACE and the AT1 were strongly expressed in the cytoplasm and nuclei of regenerating muscle fibers, fibroblasts, and in macrophages infiltrating necrotic fibers. Double immunolabeling revealed that activated fibroblasts in the endomysium and perimysium of DMD and CMD muscle were positive for ACE and AT1. Triple immunolabeling demonstrated that transforming growth factor-beta1 (TGF-beta1) and ACE were colocalized on the cytoplasm of activated fibroblasts in dystrophic muscle. Furthermore, Western blotting showed increases in the expression of AT1 and TGF-beta1 protein in dystrophic muscle, which coincided with our immunohistochemical results. The overexpression of ACE and AT1 in dystrophic muscle would likely result in the increased production of Ang II, which may act on these cells in an autocrine manner via AT1. The activation of AT1 may induce fibrous tissue formation through overexpression of TGF-beta1, which potently activates fibrogenesis and suppresses regeneration. In conclusion, our results imply that the intramuscular RAS-TGF-beta1 pathway

Hereditary muscular dystrophies and the heart

NARCIS (Netherlands)

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

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

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...

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…

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…

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

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Daniel Cantarelli dos Santos

2010-06-01

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

Dystrophin Immunity in Duchenne’s Muscular Dystrophy

Science.gov (United States)

Mendell, Jerry R.; Campbell, Katherine; Rodino-Klapac, Louise; Sahenk, Zarife; Shilling, Chris; Lewis, Sarah; Bowles, Dawn; Gray, Steven; Li, Chengwen; Galloway, Gloria; Malik, Vinod; Coley, Brian; Clark, K. Reed; Li, Juan; Xiao, Xiao; Samulski, Jade; McPhee, Scott W.; Samulski, R. Jude; Walker, Christopher M.

2010-01-01

SUMMARY We report on delivery of a functional dystrophin transgene to skeletal muscle in six patients with Duchenne’s muscular dystrophy. Dystrophin-specific T cells were detected after treatment, providing evidence of transgene expression even when the functional protein was not visualized in skeletal muscle. Circulating dystrophin-specific T cells were unexpectedly detected in two patients before vector treatment. Revertant dystrophin fibers, which expressed functional, truncated dystrophin from the deleted endogenous gene after spontaneous in-frame splicing, contained epitopes targeted by the autoreactive T cells. The potential for T-cell immunity to self and nonself dystrophin epitopes should be considered in designing and monitoring experimental therapies for this disease. (Funded by the Muscular Dystrophy Association and others; ClinicalTrials.gov number, NCT00428935.) PMID:20925545

Treatment of muscular rheumatism with 99Tc-MDP (one case report)

International Nuclear Information System (INIS)

Wang Jincheng

2001-01-01

Objective: To observe the value of using Yun Ke ( 99 Tc-MDP) to cure muscular rheumatism. Methods: A 10 years old male patient was diagnosed with muscular rheumatism. His symptoms were wandering and muscular pain and tenderness at lumbosacral region, abdomen and double crus. He was given therapy with Yun Ke everyday, intravenous injection of 5 mg for 30 days. Results: After intravenous injection of Yun Ke within 8 to 72 hours, the pain in the left crus, the lumbosacral portion and the right crus was reduced in respective order. Finally, the pain disappeared, and only the abdominal pain remained. Between 6 and 30 days, the area of abdominal pain reduced little by little to the size of 1.0 x 1.0 cm 2 , which was beside the navel. On the 33 rd day after the initial treatment, we injected him in the previous mentioned area with prednisone and the pain disappeared. Conclusion: Yun Ke ( 99 Tc-MDP) is a new medicine for the treatment of rheumatism, and we believe muscular rheumatism is a new indication of Yun Ke

Zebrafish models flex their muscles to shed light on muscular dystrophies.

Science.gov (United States)

Berger, Joachim; Currie, Peter D

2012-11-01

Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening. To develop therapies and treatments for these diseases, a better understanding of the molecular basis of muscular dystrophies is required. Thus, identification of causative genes mutated in specific disorders and the study of relevant animal models are imperative. Zebrafish genetic models of human muscle disorders often closely resemble disease pathogenesis, and the optical clarity of zebrafish embryos and larvae enables visualization of dynamic molecular processes in vivo. As an adjunct tool, morpholino studies provide insight into the molecular function of genes and allow rapid assessment of candidate genes for human muscular dystrophies. This unique set of attributes makes the zebrafish model system particularly valuable for the study of muscle diseases. This review discusses how recent research using zebrafish has shed light on the pathological basis of muscular dystrophies, with particular focus on the muscle cell membrane and the linkage between the myofibre cytoskeleton and the extracellular matrix.

SIRT1: A Novel Target for the Treatment of Muscular Dystrophies

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Atsushi Kuno

2016-01-01

Full Text Available 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+-dependent histone/protein deacetylase that plays roles in diverse cellular processes, including stress resistance and cell survival. Studies have shown that SIRT1 activation provides beneficial effects in the dystrophin-deficient mdx mouse, a model of DMD. SIRT1 activation leads to the attenuation of oxidative stress and inflammation, a shift from the fast to slow myofiber phenotype, and the suppression of tissue fibrosis. Although further research is needed to clarify the molecular mechanisms underlying the protective role of SIRT1 in mdx mice, we propose SIRT1 as a novel therapeutic target for patients with muscular dystrophies.

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.

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.

Brain Function in Duchenne Muscular Dystrophy

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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.

Terapia génica de la enfermedad de Stargardt

OpenAIRE

Martín Nieto, José

2015-01-01

El gen humano ABCA4 (=ABCR) se caracterizó en 1997 como el principal causante de la enfermedad de Stargardt, una distrofia macular hereditaria generalmente autosómica recesiva. Poco tiempo después se encontraron otras enfermedades asociadas a mutaciones en este gen, como son distrofia de conos y bastones, determinados casos de retinosis pigmentaria y un aumento de la susceptibilidad a la degeneración macular asociada a la edad. No existen tratamientos curativos para ninguna de estas distrofia...

Adenopatía supraclavicular como forma de presentación de un carcinoma de cérvix asociado al complejo esclerosis tuberosa con linfangioleiomiomatosis

Directory of Open Access Journals (Sweden)

Pablo López Mato

2013-09-01

Full Text Available La linfangioleiomiomatosis es una proliferación del tejido muscular broncovascular que recientemente se ha definido como una expresión incompleta de la entidad “complejo esclerosis tuberosa”, una facomatosis a la que se asocian diversas neoplasias. Presentamos un caso de carcinoma de cérvix con metástasis supraclaviculares y cervicales, asociado a linfangioleiomiomatosis en el contexto de un “complejo esclerosis tuberosa”.

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

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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.

Riesgos de salud en mujeres con múltiples roles

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Vivióla Gómez

2000-05-01

Full Text Available Esta investigación es parte de un proyecto internacional que incluye a otros países y se desarrolló con los objetivos de describir algunas condiciones sociodemográficas, de los roles y de la salud de un grupo de mujeres que desempeñan múltiples roles en la ciudad de Santafé de Bogotá y comparar estas condiciones en mujeres con diferentes ocupaciones; además se buscó analizar la relación entre indicadores de salud física y psicológica en este grupo de mujeres con ciertas variables sociodemográficas, las condiciones laborales, el número y la calidad de los roles desempeñados.El estudio utilizó tanto metodología cuantitativa como cualitativa con trescientas cuarenta mujeres residentes y empleadas en Santafé de Bogotá D.C. por lo menos desde hace un año y distribuidas en cuatro tipos de ocupación: ejecutivas, enfermeras, secretarias y obreras.Varios de los indicadores objetivos de salud física no parecen sugerir deficiencias en el grupo en general. Sin embargo, la presencia de síntomas asociados a la menstruación y el porcentaje de personas que reportan síntomas tales como dolores de cabeza, tensión muscular, angustia, o dificultades de concentración es relativamente alto. Esto contrasta con la percepción de salud que se describe en general como buena o muy buena.Se destacó como resultado importante un alto nivel de autoestima del grupo. Ésta se relacionó con las gratificaciones que el trabajo transfería a otras áreas de la vida, con el apoyo social que se recibe en el contexto laboral y con todos los aspectos positivos que las mujeres perciben en cada uno de sus roles.Los niveles de depresión y ansiedad detectados fueron moderados y se relacionaron significativamente entre sí, así como con el número de síntomas reportados.Los datos en general respaldan la conclusion de que el fenómeno de los múltiples roles y su efecto sobre la salud femenina no puede estudiarse analizando cada rol independientemente y sin

Duchenne and Becker muscular dystrophy in adolescents: current perspectives

Directory of Open Access Journals (Sweden)

Andrews JG

2018-03-01

Full Text Available Jennifer G Andrews, Richard A Wahl Department of Pediatrics, University of Arizona, Tucson, AZ, USA Abstract: Duchenne muscular dystrophy (DMD and Becker muscular dystrophy (BMD are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010. The advent of these clinical management consensus papers, particularly respiratory care, has significantly increased the life span for these individuals, and the adolescent years are now a point of transition into adult lives, rather than a period of end of life. This review outlines the literature on DMD and BMD during adolescence, focusing on clinical presentation during adolescence, impact of living with a chronic illness on adolescents, and the effect that adolescents have on their chronic illness. In addition, we describe the role that palliative-care specialists could have in improving outcomes for these individuals. The increasing proportion of individuals with DMD and BMD living into adulthood underscores the need for more research into interventions and intracacies of adolescence that can improve the social aspects of their lives. Keywords: adolescent health, review, Duchenne muscular dystrophy, Becker muscular dystrophy, dystrophinopathy, palliative care

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

Management of myocardial damage in muscular dystrophy

International Nuclear Information System (INIS)

Tamura, Takuhisa

2011-01-01

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

Monitorización ambulatoria de la presión arterial en niños con obesidad

OpenAIRE

García-Vao Bel, Carlos María

2015-01-01

Tesis Doctoral leída en la Universidad Rey Juan Carlos de Madrid en 2015. Directores de la Tesis: Ángel Gil de Miguel y María José Rivero Martín Se define la obesidad como un exceso de masa grasa con relación a la masa corporal total, esta acumulación de grasa es excesiva y generalizada tanto en el tejido subcutáneo como en el resto de los tejidos y se asocia a un desequilibrio en las proporciones de los componentes magro o muscular, óseo, visceral y adiposo. Por tanto no se pu...

Características metabólicas del músculoGluteus medius de equinos mestizos con aptitud de tiro

OpenAIRE

MERINO, V.; ISLAS, A.; LOPEZ-RIVERO, J.; MORA, G.; QUEZADA, M.; LOPEZ, J.; REYES, J.

1998-01-01

De 16 equinos mestizos de tiro, de ambos sexos, clínicamente sanos, se obtuvieron biopsias del músculo Gluteus medius a 3, 6 y 9 cm de profundidad, con el objetivo de evaluar su metabolismo anaeróbico y aeróbico, determinando las actividades de las enzimas creatinquinasa (CK), deshidrogenasa láctica (LDH) y citrato sintetasa (CS) en animales inactivos y trabajando en faenas agrícolas. El tejido muscular se homogeneizó, sonicó y centrifugó; posteriormente en el sobrenadante se determinaron la...

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

International Nuclear Information System (INIS)

Gor'kova, N.B.; Starykh, L.M.; Karpova, L.E.

1991-01-01

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

Atrofia muscular espinal tipo 1: enfermedad de Werdnig-Hoffmann

OpenAIRE

Zárate-Aspiros, Romeo; Rosas-Sumano, Ana Beatriz; Paz-Pacheco, Alberto; Fenton-Navarro, Patricia; Chinas-López, Silvet; López-Ríos, José Antonio

2013-01-01

Introducción. Las atrofias musculares espinales de la infancia son enfermedades neuromusculares hereditarias, autosómicas, recesivas, caracterizadas por la degeneración de las neuronas motoras del asta anterior de la médula espinal. La atrofia muscular espinal tipo I (enfermedad de Werdnig-Hoffmann) es la forma más severa. Se inicia in útero o durante los primeros meses de vida. La muerte suele ocurrir antes de los dos años de edad. Caso clínico. Lactante de 6 meses de edad que ingresa al Ser...

Magnetic resonance imaging of children with Duchenne muscular dystrophy

Energy Technology Data Exchange (ETDEWEB)

Schreiber, A.; Smith, W.L.; Franken, E.A.; Dunn, V.; Ehrhardt, J.; Ionasescu, V.; Zellweger, H.

1987-10-01

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.

Magnetic resonance imaging of children with Duchenne muscular dystrophy

International Nuclear Information System (INIS)

Schreiber, A.; Smith, W.L.; Franken, E.A.; Dunn, V.; Ehrhardt, J.; Ionasescu, V.; Zellweger, H.

1987-01-01

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.)

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....

Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy

Science.gov (United States)

Burch, Peter M.; Pogoryelova, Oksana; Goldstein, Richard; Bennett, Donald; Guglieri, Michela; Straub, Volker; Bushby, Kate; Lochmüller, Hanns; Morris, Carl

2015-01-01

Abstract Background: Identifying translatable, non-invasive biomarkers of muscular dystrophy that better reflect the disease pathology than those currently available would aid the development of new therapies, the monitoring of disease progression and the response to therapy. Objective: The goal of this study was to evaluate a panel of serum protein biomarkers with the potential to specifically detect skeletal muscle injury. Method: Serum concentrations of skeletal troponin I (sTnI), myosin light chain 3 (Myl3), fatty acid binding protein 3 (FABP3) and muscle-type creatine kinase (CKM) proteins were measured in 74 Duchenne muscular dystrophy (DMD), 38 Becker muscular dystrophy (BMD) and 49 Limb-girdle muscular dystrophy type 2B (LGMD2B) patients and 32 healthy controls. Results: All four proteins were significantly elevated in the serum of these three muscular dystrophy patient populations when compared to healthy controls, but, interestingly, displayed different profiles depending on the type of muscular dystrophy. Additionally, the effects of patient age, ambulatory status, cardiac function and treatment status on the serum concentrations of the proteins were investigated. Statistical analysis revealed correlations between the serum concentrations and certain clinical endpoints including forced vital capacity in DMD patients and the time to walk ten meters in LGMD2B patients. Serum concentrations of these proteins were also elevated in two preclinical models of muscular dystrophy, the mdx mouse and the golden-retriever muscular dystrophy dog. Conclusions: These proteins, therefore, are potential muscular dystrophy biomarkers for monitoring disease progression and therapeutic response in both preclinical and clinical studies. PMID:26870665

Síndrome de Werdnig-Hoffmann (atrofia muscular espinal de la infancia). Presentación de un caso y revisión en la literatura

OpenAIRE

Jairo Claret Rodríguez Hernández, MD; Eder Ariel Lancheros García; Silvia Cristina Martínez Rueda

2010-01-01

El síndrome de Werdnig-Hoffmann o atrofia muscular espinal (AME) de la infancia es una enfermedad de patrón autosómico recesivo de origen neuromuscular y degenerativo, poco prevalente en la población general, y que se caracteriza por la destrucción de las neuronas motoras del asta anterior de la medula espinal debido a alteraciones cromosómicas.La enfermedad no tiene tratamiento, es de mal pronóstico y, por lo general, culmina con la muerte del menor en los primeros años de vida por dificulta...

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

NARCIS (Netherlands)

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

1992-01-01

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

How Do People Cope with Muscular Dystrophy?

Science.gov (United States)

... topic are answered in this section. How do people cope with muscular dystrophy (MD)? Although MD presents ... improve health and quality of life. Almost all people with any form of MD experience a worsening ...

[Muscular disorders associated with ankylosing spondylitis and their correction with the help of whole body cryotherapy].

Science.gov (United States)

Kulikov, A G; Tabiev, V I; Rassulova, M A

2015-01-01

The objective of the present study was to evaluate the possibilities for the correction of muscular disorders associated with ankylosing spondylitis and their correction with the help of whole body cryotherapy. The study included 55 patients randomly allocated to two groups. Group 1 was comprised of the patients treated with the use of the common mineral baths, physiotherapy, therapeutic physical exercises, spinal massage, and whole body air-cryotherapy. Group 2 contained the patients who were treated in a similar way with the exception of whole body cryotherapy; they served as controls. Muscular disorders were diagnosed by means of functional muscular testing. The study has demonstrated the high prevalence of muscular disorders in the patients suffering from ankylosing spondylitis. Moreover, it revealed the profile of such disorders associated with ankylosing spondylitis and showed significant correlation between the results of functional muscular testing, BASMI and BASFI indices as well as characteristics of chest excursions (pcryotherapy in comparison with the alternative therapeutic modalities employed in the present study. This therapeutic modality ensured the statistically more pronounced improvement of functional muscular testing parameters (pcryotherapy accounting for its corrective influence on the muscular disorders in the patients presenting with ankylosing spondylitis. It is concluded that the proposed approach can be recommended for the introduction in the combined therapeutic and rehabilitative treatment of muscular disorders associated with ankylosing spondylitis.

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.

Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras

Directory of Open Access Journals (Sweden)

Mariana T. C. Baioni

2010-08-01

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

Muscular sarcoidosis involving the chest and abdominal walls: case report with MR imaging

Energy Technology Data Exchange (ETDEWEB)

Lee, Seunghyun; Lee, In Sook; Song, You Seon [Pusan National University Hospital, Biomedical Research Institute, Department of Radiology, Busan (Korea, Republic of); Pusan National University School of Medicine, Busan (Korea, Republic of); Mok, Jeongha [Pusan National University Hospital, Biomedical Research Institute, Department of Internal Medicine, Busan (Korea, Republic of); Choi, Kyung-Un [Pusan National University Hospital, Biomedical Research Institute, Department of Pathology, Busan (Korea, Republic of)

2018-03-15

Sarcoidosis is an inflammatory disorder that is characterized by the presence of noncaseating granulomas in tissues, involving many organs and tissues. Extra-pulmonary, especially muscular sarcoidosis is a rare condition. The most common location of the muscular sarcoidosis is known to be the proximal muscles of the extremities; however, there have been no cases of diffuse involvement of the chest and abdominal wall muscles. Here, we report a rare muscular sarcoidosis with infiltrative pattern in the chest and abdominal wall muscles and describe the MR imaging findings that were mistaken as lymphoma at initial diagnosis. Although our case did not show characteristic MR findings of muscular sarcoidosis, clinicians or radiologists who are aware of these imaging features can perform early systemic survey for sarcoidosis. Also muscle biopsy is very important to confirm the sarcoidosis and distinguish it from other tumors. (orig.)

Muscular sarcoidosis involving the chest and abdominal walls: case report with MR imaging

International Nuclear Information System (INIS)

Lee, Seunghyun; Lee, In Sook; Song, You Seon; Mok, Jeongha; Choi, Kyung-Un

2018-01-01

Sarcoidosis is an inflammatory disorder that is characterized by the presence of noncaseating granulomas in tissues, involving many organs and tissues. Extra-pulmonary, especially muscular sarcoidosis is a rare condition. The most common location of the muscular sarcoidosis is known to be the proximal muscles of the extremities; however, there have been no cases of diffuse involvement of the chest and abdominal wall muscles. Here, we report a rare muscular sarcoidosis with infiltrative pattern in the chest and abdominal wall muscles and describe the MR imaging findings that were mistaken as lymphoma at initial diagnosis. Although our case did not show characteristic MR findings of muscular sarcoidosis, clinicians or radiologists who are aware of these imaging features can perform early systemic survey for sarcoidosis. Also muscle biopsy is very important to confirm the sarcoidosis and distinguish it from other tumors. (orig.)

Impact of a supervised worksite exercise program on back and core muscular endurance in firefighters.

Science.gov (United States)

Mayer, John M; Quillen, William S; Verna, Joe L; Chen, Ren; Lunseth, Paul; Dagenais, Simon

2015-01-01

Low back pain is a leading cause of disability in firefighters and is related to poor muscular endurance. This study examined the impact of supervised worksite exercise on back and core muscular endurance in firefighters. A cluster randomized controlled trial was used for this study. The study occurred in fire stations of a municipal fire department (Tampa, Florida). Subjects were 96 full-duty career firefighters who were randomly assigned by fire station to exercise (n = 54) or control (n = 42) groups. Exercise group participants completed a supervised exercise targeting the back and core muscles while on duty, two times per week for 24 weeks, in addition to their usual fitness regimen. Control group participants continued their usual fitness regimen. Back and core muscular endurance was assessed with the Biering-Sorensen test and plank test, respectively. Changes in back and core muscular endurance from baseline to 24 weeks were compared between groups using analysis of covariance and linear mixed effects models. After 24 weeks, the exercise group had 12% greater (p = .021) back muscular endurance and 21% greater (p = .0006) core muscular endurance than did the control group. The exercise intervention did not disrupt operations or job performance. A supervised worksite exercise program was safe and effective in improving back and core muscular endurance in firefighters, which could protect against future low back pain.

Comparación de condiciones de intubación orotraqueal obtenidas con rocuronio administrado en secuencia inversa y succinilcolina en secuencia rápida

OpenAIRE

Andújar, Rosario; De Larrobla, Mariana; Balverde, Mario; Saralegui, José

2001-01-01

Introducción: la administración en secuencia inversa es una técnica aceptada para la obtención de la vía aérea rápidamente tras la administración de los relajantes musculares no despolarizantes. El rocuronio es uno de los que tiene inicio de acción más rápido y podría ser una opción válida para este fin. Se evaluaron las condiciones de intubación orotraqueal logradas con la administración de rocuronio en secuencia inversa y las obtenidas con succinilcolina en secuencia rápida. Material y méto...

Kinematics, muscular activity and propulsion in gopher snakes

Science.gov (United States)

Moon; Gans

1998-10-01

Previous studies have addressed the physical principles and muscular activity patterns underlying terrestrial lateral undulation in snakes, but not the mechanism by which muscular activity produces curvature and propulsion. In this study, we used synchronized electromyography and videography to examine the muscular basis and propulsive mechanism of terrestrial lateral undulation in gopher snakes Pituophis melanoleucus affinis. Specifically, we used patch electrodes to record from the semispinalis, longissimus dorsi and iliocostalis muscles in snakes pushing against one or more pegs. Axial bends propagate posteriorly along the body and contact the pegs at or immediately posterior to an inflection of curvature, which then reverses anterior to the peg. The vertebral column bends broadly around a peg, whereas the body wall bends sharply and asymmetrically around the anterior surface of the peg. The epaxial muscles are always active contralateral to the point of contact with a peg; they are activated slightly before or at the point of maximal convexity and deactivated variably between the inflection point and the point of maximal concavity. This pattern is consistent with muscular shortening and the production of axial bends, although variability in the pattern indicates that other muscles may affect the mechanics of the epaxial muscles. The kinematic and motor patterns in snakes crawling against experimentally increased drag indicated that forces are produced largely by muscles that are active in the axial bend around each peg, rather than by distant muscles from which the forces might be transmitted by connective tissues. At each point of force exertion, the propulsive mechanism of terrestrial lateral undulation may be modeled as a type of cam-follower, in which continuous bending of the trunk around the peg produces translation of the snake.

Repair of an inguinoscrotal hernia in a patient with Becker muscular dystrophy.

Science.gov (United States)

Tatulli, F; Caraglia, A; Delcuratolo, A; Cassano, S; Chetta, G S

2017-01-01

Inguinal hernia repairs are routinely performed as outpatient procedures in most patients, whereas a few require admission due to clinical or social peculiarities. Muscular dystrophies are inherited disorders characterized by progressive muscle wasting and weakness. In case of surgery there is no definite recommendation for either general or regional anesthesia. This contribution regards a 48 y. o. male patient diagnosed with Becker Muscular Dystrophy by muscle biopsy 10 years earlier. He had a left-sided sizable inguinoscrotal hernia with repeat episodes of incarceration. An elective mesh repair with suction drainage was accomplished under selective spinal anesthesia. The post-operative course was uneventful. A few inguinal hernia repairs require admission due to peculiarities such as extensive scrotal hernias requiring suction drainage. Muscular dystrophies are inherited disorders with no cure and no two dystrophy patients are exactly alike, therefore the health issues will be different for each individual. In case of surgery there is no definite recommendation for either general or regional anesthesia. This contribution regards the successful elective mesh repair with suction drainage of a large left-sided inguino-scrotal hernia in a 48 y. o. male patient affected by Becker muscular dystrophy by selective spinal anesthesia obtained by 10 milligrams of hyperbaric bupivacaine. Effective mesh repair with suction drainage of large inguinal hernias under spinal anesthesia can be achieved in patients affected by muscular dystrophy.

Vibration therapy tolerated in children with Duchenne muscular dystrophy: a pilot study.

Science.gov (United States)

Myers, Kenneth A; Ramage, Barbara; Khan, Aneal; Mah, Jean K

2014-07-01

Duchenne muscular dystrophy is an X-linked recessive muscular dystrophy. Clinical management primarily involves rehabilitation strategies aimed at preserving functional mobility as long as possible. Side-alternating vibration therapy is a rehabilitation intervention that has shown promise in a number of different neuromuscular disorders, and has the potential to preserve strength, functional mobility, and bone mass. There has been little research regarding the tolerance to side-alternating vibration therapy in muscle diseases such as Duchenne muscular dystrophy. Four patients were recruited for a pilot study assessing the safety and tolerance of side-alternating vibration therapy in individuals with Duchenne muscular dystrophy. All patients participated in a 4-week training period involving side-alternating vibration therapy sessions three times per week. Serum creatine kinase was measured, and adverse effects reviewed at each session with functional mobility assessed before and after the training period. All patients tolerated the training protocol well, and there were no major changes in functional mobility. One patient had a transient increase in creatine kinase during the study; however, levels of this enzyme were stable overall when comparing the pretraining and posttraining values. Some patients reported subjective improvement during the training period. Side-alternating vibration therapy is well tolerated in children with Duchenne muscular dystrophy and may have potential to improve or maintain functional mobility and strength in these patients. Copyright © 2014 Elsevier Inc. All rights reserved.

Childhood cardiorespiratory fitness, muscular fitness and adult measures of glucose homeostasis.

Science.gov (United States)

Fraser, Brooklyn J; Blizzard, Leigh; Schmidt, Michael D; Juonala, Markus; Dwyer, Terence; Venn, Alison J; Magnussen, Costan G

2018-02-14

To assess whether childhood cardiorespiratory fitness (CRF) and muscular fitness phenotypes (strength, power, endurance) predict adult glucose homeostasis measures. Prospective longitudinal study. Study examining participants who had physical fitness measured in childhood (aged 7-15 years) and who attended follow-up clinics approximately 20 years later and provided a fasting blood sample which was tested for glucose and insulin. Physical fitness measurements included muscular strength (right and left grip, shoulder flexion, shoulder and leg extension), power (standing long jump distance) and endurance (number of push-ups in 30s), and CRF (1.6km run duration). In adulthood, fasting glucose and insulin levels were used to derive glucose homeostasis measures of insulin resistance (HOMA2-IR) and beta cell function (HOMA2-β). A standard deviation increase in childhood CRF or muscular strength (males) was associated with fasting glucose (CRF: β=-0.06mmol/L), fasting insulin (CRF: β=-0.73mU/L; strength: β=-0.40mU/L), HOMA2-IR (CRF: β=-0.06; strength: β=-0.05) and HOMA2-β (CRF: β=-3.06%; strength: β=-2.62%) in adulthood, independent of the alternative fitness phenotype (all p0.06). CRF and muscular fitness in childhood were inversely associated with measures of fasting insulin, insulin resistance and beta cell function in adulthood. Childhood CRF and muscular fitness could both be potential independent targets for strategies to help reduce the development of adverse glucose homeostasis. Copyright © 2018 Sports Medicine Australia. Published by Elsevier Ltd. All rights reserved.

Nanolipodendrosome-loaded glatiramer acetate and myogenic differentiation 1 as augmentation therapeutic strategy approaches in muscular dystrophy.

Science.gov (United States)

Afzal, Ehsan; Zakeri, Saba; Keyhanvar, Peyman; Bagheri, Meisam; Mahjoubi, Parvin; Asadian, Mahtab; Omoomi, Nogol; Dehqanian, Mohammad; Ghalandarlaki, Negar; Darvishmohammadi, Tahmineh; Farjadian, Fatemeh; Golvajoee, Mohammad Sadegh; Afzal, Shadi; Ghaffari, Maryam; Cohan, Reza Ahangari; Gravand, Amin; Ardestani, Mehdi Shafiee

2013-01-01

[Corrected] Muscular dystrophies consist of a number of juvenile and adult forms of complex disorders which generally cause weakness or efficiency defects affecting skeletal muscles or, in some kinds, other types of tissues in all parts of the body are vastly affected. In previous studies, it was observed that along with muscular dystrophy, immune inflammation was caused by inflammatory cells invasion - like T lymphocyte markers (CD8+/CD4+). Inflammatory processes play a major part in muscular fibrosis in muscular dystrophy patients. Additionally, a significant decrease in amounts of two myogenic recovery factors (myogenic differentation 1 [MyoD] and myogenin) in animal models was observed. The drug glatiramer acetate causes anti-inflammatory cytokines to increase and T helper (Th) cells to induce, in an as yet unknown mechanism. MyoD recovery activity in muscular cells justifies using it alongside this drug. In this study, a nanolipodendrosome carrier as a drug delivery system was designed. The purpose of the system was to maximize the delivery and efficiency of the two drug factors, MyoD and myogenin, and introduce them as novel therapeutic agents in muscular dystrophy phenotypic mice. The generation of new muscular cells was analyzed in SW1 mice. Then, immune system changes and probable side effects after injecting the nanodrug formulations were investigated. The loaded lipodendrimer nanocarrier with the candidate drug, in comparison with the nandrolone control drug, caused a significant increase in muscular mass, a reduction in CD4+/CD8+ inflammation markers, and no significant toxicity was observed. The results support the hypothesis that the nanolipodendrimer containing the two candidate drugs will probably be an efficient means to ameliorate muscular degeneration, and warrants further investigation.

Sarcopenia and sarcopenic obesity in patients with muscular dystrophy

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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.

Muscular involvement by malignant lymphoma: CT and MR findings

International Nuclear Information System (INIS)

Kim, Baek Hyun

2000-01-01

To investigate the CT and MR findings of muscular involvement by malignant lymphoma. Thirteen patients with biopsy-proved muscular involvement by malignant lymphoma were included in this study. Two patients were primary muscle lymphoma and 11 patients were muscle lymphoma by secondary involvement of malignant lymphoma. CT of 10 patients (6 pre-contrast CT and 9 postcontrast CT) and MRI of 6 patients (all with pre a nd post-contrast studies) were retrospectively analyzed. In the majority of patients (84.6%, 11/13), the appearance of muscular involvement was the diffuse enlargement of several muscles as like as a group. The muscles involved by malignant lymphoma showed iso-attenuation (5/6) and homogeneity (6/6) on pre-contrast CT scan, and high attenuation (5/9) or iso-attenuation (4/9) and homogeneity (7/9) on post-contrast CT scan. The signal intensity of involved muscle showed slightly hyper- (4/6) or iso-intense (2/6) and homogeneous (6/6) on T1-weighted images, and hyper-intense (6/6) and homogeneous (4/6) on T2- and Gadolinium-enhanced T1-weighted images. Adjacent bone change was demonstrated in 69.2% (9/13), subcutaneous fat change in 61.5% (8/13), and neurovascular encasement within involved muscle in 53.8% (7/13). The CT and MR findings of muscular involvement by malignant lymphoma were diffuse enlargement of several muscles with homogeneous attenuation or signal intensity, and frequent changes in adjacent bones and subcutaneous fat, or neurovascular encasement. (author)

Physical Therapy and Facioscapulohumeral Muscular Dystrophy (FSHD)

Science.gov (United States)

Physical Therapy & FSHD Facioscapulohumeral Muscular Dystrophy A Guide for Patients & Physical Therapists Authors: Wendy M. King, P.T., Assistant ... Shree Pandya, P.T., M.S., Assistant Professor, Neurology & Physical Medicine and Rehabilitation A publication of the FSH ...

Influence of Manual Labor at Work on Muscular Fitness and Its Relationship With Work Performance.

Science.gov (United States)

Ryan, Eric D; Thompson, Brennan J; Sobolewski, Eric J

2016-10-01

The present study examined the influence of workplace manual labor on measures of muscular fitness, with a secondary aim to investigate the relationship between muscular fitness and work performance in blue-collar (BC) workers. Leg extension isokinetic strength at slow and fast velocities, hamstring and hip-flexor flexibility, and low back muscular endurance were examined in young and older BC workers and white-collar (WC) controls, while work performance was examined in the BC cohort. There were no differences in muscular fitness variables between BC and WC groups; however, the older men had lower low back muscular endurance (-43.0%) and strength at slow (-9.4%) and fast (-12.7%) velocities. Work performance was associated with strength at fast velocities (r = 0.633) in the older BC workers. Leg strength may influence work performance, with higher velocities becoming more important in older workers.

Emerging genetic therapies to treat Duchenne muscular dystrophy

Science.gov (United States)

Nelson, Stanley F.; Crosbie, Rachelle H.; Miceli, M. Carrie; Spencer, Melissa J.

2010-01-01

Purpose of review Duchenne muscular dystrophy is a progressive muscle degenerative disease caused by dystrophin mutations. The purpose of this review is to highlight two emerging therapies designed to repair the primary genetic defect, called `exon skipping' and `nonsense codon suppression'. Recent findings A drug, PTC124, was identified that suppresses nonsense codon translation termination. PTC124 can lead to restoration of some dystrophin expression in human Duchenne muscular dystrophy muscles with mutations resulting in premature stops. Two drugs developed for exon skipping, PRO051 and AVI-4658, result in the exclusion of exon 51 from mature mRNA. They can restore the translational reading frame to dystrophin transcripts from patients with a particular subset of dystrophin gene deletions and lead to some restoration of dystrophin expression in affected boys' muscle in vivo. Both approaches have concluded phase I trials with no serious adverse events. Summary These novel therapies that act to correct the primary genetic defect of dystrophin deficiency are among the first generation of therapies tailored to correct specific mutations in humans. Thus, they represent paradigm forming approaches to personalized medicine with the potential to lead to life changing treatment for those affected by Duchenne muscular dystrophy. PMID:19745732

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

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Scola Rosana Herminia

2001-01-01

Full Text Available We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA. The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.

Duchenne muscular dystrophy - a molecular service

African Journals Online (AJOL)

In 1987 a carrier detection and prenatal diagnostic service for. Duchenne muscular dystrophy using molecular technology was instituted at the Department of Human Genetics, Uni- versity of Cape Town, to serve affe.cted families in southern. Africa. DNA samples from 100 affected male subjects and. 350 of their relatives ...

Distinctive serum miRNA profile in mouse models of striated muscular pathologies.

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Nicolas Vignier

Full Text Available Biomarkers are critically important for disease diagnosis and monitoring. In particular, close monitoring of disease evolution is eminently required for the evaluation of therapeutic treatments. Classical monitoring methods in muscular dystrophies are largely based on histological and molecular analyses of muscle biopsies. Such biopsies are invasive and therefore difficult to obtain. The serum protein creatine kinase is a useful biomarker, which is however not specific for a given pathology and correlates poorly with the severity or course of the muscular pathology. The aim of the present study was the systematic evaluation of serum microRNAs (miRNAs as biomarkers in striated muscle pathologies. Mouse models for five striated muscle pathologies were investigated: Duchenne muscular dystrophy (DMD, limb-girdle muscular dystrophy type 2D (LGMD2D, limb-girdle muscular dystrophy type 2C (LGMD2C, Emery-Dreifuss muscular dystrophy (EDMD and hypertrophic cardiomyopathy (HCM. Two-step RT-qPCR methodology was elaborated, using two different RT-qPCR miRNA quantification technologies. We identified miRNA modulation in the serum of all the five mouse models. The most highly dysregulated serum miRNAs were found to be commonly upregulated in DMD, LGMD2D and LGMD2C mouse models, which all exhibit massive destruction of striated muscle tissues. Some of these miRNAs were down rather than upregulated in the EDMD mice, a model without massive myofiber destruction. The dysregulated miRNAs identified in the HCM model were different, with the exception of one dysregulated miRNA common to all pathologies. Importantly, a specific and distinctive circulating miRNA profile was identified for each studied pathological mouse model. The differential expression of a few dysregulated miRNAs in the DMD mice was further evaluated in DMD patients, providing new candidates of circulating miRNA biomarkers for DMD.

Association of physical activity with muscular strength and fat-free mass in adolescents: the HELENA study.

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Moliner-Urdiales, Diego; Ortega, Francisco B; Vicente-Rodriguez, Germán; Rey-Lopez, Juan P; Gracia-Marco, Luis; Widhalm, Kurt; Sjöström, Michael; Moreno, Luis A; Castillo, Manuel J; Ruiz, Jonatan R

2010-08-01

The objective of this study is to analyse the association of objectively assessed physical activity (PA) with muscular strength and fat-free mass in adolescents, and to determine whether meeting the current PA recommendations is associated with higher levels of muscular strength and fat-free mass. The present cross-sectional study comprised 363 Spanish adolescents (180 females) aged 12.5-17.5 years. PA was assessed by accelerometry and expressed as average PA (counts/min), and min/day of inactive, light, moderate, vigorous and moderate to vigorous PA (MVPA). MVPA was dichotomized into or = 60. Upper body muscular strength was measured with the handgrip strength test, and lower body muscular strength was measured with the standing broad jump, squat jump, counter movement jump and Abalakov tests. Fat-free mass was measured by DXA. We observed positive associations between vigorous PA and all the lower body muscular strength tests except for the counter movement jump in males. PA was not associated with fat-free mass in both males and females. Male adolescents engaged in at least 60 min/day MVPA performed better in the standing broad jump test. In conclusion, the findings of the present study suggest that only vigorous PA is associated with muscular strength, particularly lower-body muscular strength in male adolescents.

The Clinical Observation on one case of Patient with Progressive Muscular Dystrophies

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Yoo, Chang-Kil

2000-12-01

Full Text Available After observing a patient diagnosed with Progressive Muscular Dystropies from the August, 31, 2000 to the January, 2001, the following results are obtained. Method and Result: Under our assumption that the Korean Bee Venom Therapy is a good method to treat Progress Muscular Dystropies. Korean Bee Venom Therapy was applied on the following acupuncture points: BL23(Shinsu:腎兪, BL26(Guanyuanshu:關元兪, ST36(Chok-Samni:足三里, LI4(Hapkok:合谷, LV3(Taechung:太, SP10(Hyolhae:血海, SI9(Sojang-Kyonjong:貞. In addition CFC(Carthami Flos;紅花: and Cervi Pantotrichum Cornu; Herbal-Acupuncture is also treated on the other acupuncture points. For herbal medication was given to the patient based on the Sasang Constitution, Taeyangin Ogapijangchuk-tang. Following these treatments in this case of Progressive Muscular Dystropies, the skeletal muscle functions made remarkable improvement. Conclusion: Based on the clinical results, traditional Korean Medical treatment is believed to be effective for treating Progressive Muscular Dystropies, and further studies should be conducted to provide more valuable information.

Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.

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Latimer, Rebecca; Street, Natalie; Conway, Kristin Caspers; James, Kathy; Cunniff, Christopher; Oleszek, Joyce; Fox, Deborah; Ciafaloni, Emma; Westfield, Christina; Paramsothy, Pangaja

2017-06-01

Duchenne and Becker muscular dystrophy are X-linked neuromuscular disorders characterized by progressive muscle degeneration. Despite the involvement of multiple systems, secondary conditions among affected males have not been comprehensively described. Two hundred nine caregivers of affected males (aged 3-31 years) identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network completed a mailed survey that included questions about secondary conditions impacting multiple body functions. The 5 most commonly reported conditions in males with Duchenne were cognitive deficits (38.4%), constipation (31.7%), anxiety (29.3%), depression (27.4%), and obesity (19.5%). Higher frequencies of anxiety, depression, and kidney stones were found among nonambulatory males compared to ambulatory males. Attention-deficit hyperactivity disorder (ADHD) was more common in ambulatory than nonambulatory males. These data support clinical care recommendations for monitoring of patients with Duchenne or Becker muscular dystrophy by a multidisciplinary team to prevent and treat conditions that may be secondary to the diagnosis.

Drive for muscularity and social physique anxiety mediate the perceived ideal physique muscle dysmorphia relationship.

Science.gov (United States)

Thomas, Adam; Tod, David A; Edwards, Christian J; McGuigan, Michael R

2014-12-01

This study examined the mediating role of drive for muscularity and social physique anxiety (SPA) in the perceived muscular male ideal physique and muscle dysmorphia relationship in weight training men. Men (N = 146, mean ± SD; age, 22.8 ± 5.0 years; weight, 82.0 ± 11.1 kg; height, 1.80 ± 0.07 m; body mass index, 25.1 ± 3.0) who participated in weight training completed validated questionnaires measuring drive for muscularity, SPA, perceived muscular male ideal physique, global muscle dysmorphia, and several characteristics of muscle dysmorphia (exercise dependence, diet manipulation, concerns about size/symmetry, physique protection behavior, and supplementation). Perceived ideal physique was an independent predictor of muscle dysmorphia measures except physique protection (coefficients = 0.113-0.149, p ≤ 0.05). Perceived ideal physique also predicted muscle dysmorphia characteristics (except physique protection and diet) through the indirect drive for muscularity pathway (coefficients = 0.055-0.116, p ≤ 0.05). Perceived ideal physique also predicted size/symmetry concerns and physique protection through the indirect drive for muscularity and SPA pathway (coefficients = 0.080-0.025, p ≤ 0.05). These results extend current research by providing insights into the way correlates of muscle dysmorphia interact to predict the condition. The results also highlight signs (e.g., anxiety about muscularity) that strength and conditioning coaches can use to identify at-risk people who may benefit from being referred for psychological assistance.

Hipertrofia muscular e nutrição : Monografia : Muscule Hypertrophy and Nutrition

OpenAIRE

Moreira, Bruna Isabel Araújo

2010-01-01

Resumo da tese: A hipertrofia muscular é o processo através do qual se dá o aumento da massa muscular. O exercício de resistência é considerado um estímulo eficaz para a ocorrência da hipertrofia muscular. No entanto, tal não é suficiente para a promoção da deposição proteica no músculo, sendo essencial a interacção do exercício com a adequada ingestão alimentar. Apesar da tão badalada necessidade da ingestão proteica, factores como a ingestão energética ou o timing de ingestão têm-se mostrad...

A Preliminary Study of Muscular Artifact Cancellation in Single-Channel EEG

OpenAIRE

Chen, Xun; Liu, Aiping; Peng, Hu; Ward, Rabab K.

2014-01-01

Electroencephalogram (EEG) recordings are often contaminated with muscular artifacts that strongly obscure the EEG signals and complicates their analysis. For the conventional case, where the EEG recordings are obtained simultaneously over many EEG channels, there exists a considerable range of methods for removing muscular artifacts. In recent years, there has been an increasing trend to use EEG information in ambulatory healthcare and related physiological signal monitoring systems. For pra...

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...

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

Venous pump of the calf: a study of venous and muscular pressures.

Science.gov (United States)

Alimi, Y S; Barthelemy, P; Juhan, C

1994-11-01

Little data are available concerning the relation between the muscular pumping mechanism and the variation of superficial and deep venous pressure during normal action of the calf pump; therefore we undertook this study to determine the pressure values in three compartments of the calf and in the deep and the superficial venous system and to establish correlation between muscular and venous pressure. Nine healthy young women with a mean age of 23 years (range 19 to 28 years) were examined. In the same calf, a muscular catheter was placed in the deep posterior compartment (DPC), in the superficial posterior compartment (SPC), and in the anterior tibial compartment (ATC), and a vascular catheter was placed in the popliteal vein and in the greater saphenous vein (GSV). The five lines of pressure were simultaneously recorded in the following situations: at rest, during Valsalva maneuver, foot flexion, and foot extension. The situation was studied with the patient in the following positions: decubitus, sitting, standing, and squatting. A final continuous recording was carried out after the patient had been walking for 5 minutes. Mean values with standard errors of muscular and venous pressure were established in each situation. At rest and during Valsalva maneuver, the muscular pressures did not vary, whereas venous pressures increased significantly when the patient was sitting and standing. On the other hand, squatting was associated with a rise in the muscular and vein pressures. Foot flexion entailed a significant increase in the ATC pressure and a rise in the GSV pressure, whereas foot extension caused the DPC pressure to rise without venous pressure modifications. Walking was associated with an alternating increase in the DPC, SPC, GSV and popliteal vein pressures when the foot was compressed to floor followed by a significant decrease when the foot pressure was released. The variations in the deep and superficial venous pressures when the patient is sitting and

Força muscular isocinética de jogadores de futebol da seleção paraolímpica brasileira de portadores de paralisia cerebral Fuerza muscular isocinética en jugadores de futbol de la selección paraolímpica brasileña de portadores de parálisis cerebral Isokinetic muscular strength of paralympic athletes with cerebral palsy (CP from the Brazilian soccer team

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Marília dos Santos Andrade

2005-10-01

Full Text Available INTRODUÇÃO E OBJETIVO: A fraqueza muscular, a assimetria de forças e o desequilíbrio entre músculos antagonistas são reconhecidamente fatores de risco para lesão dos joelhos. Futebolistas portadores de paralisia cerebral (PC possivelmente apresentam estes fatores de risco exacerbados em decorrência desta doença e do esporte. O objetivo do presente estudo foi avaliar a presença destes fatores de risco para lesão do joelho em atletas, portadores de PC, da seleção paraolímpica brasileira de futebol. MÉTODO: Vinte e um futebolistas paraolímpicos, portadores de PC, com hemiparesia espástica, submeteram-se à avaliação dos músculos flexores e extensores dos joelhos, por meio do dinamômetro isocinético Cybex 6000. Para análise da força muscular foi medido o pico de torque a 60º/s, que foi utilizado para analisar a deficiência contralateral, a relação entre músculos flexores e extensores do joelho e a fraqueza muscular comparando com valores previstos para indivíduos normais (Neder et al., 1999. O teste t-Student pareado foi utilizado para a análise estatística (p INTRODUCCIÓN Y OBJETIVOS: La flaqueza muscular, la asimetría de fuerzas y el desequilibrio entre los musculos antagonistas son reconocidamente factores de riesgo para las lesiones de la rodilla. Los futbolistas portadores de paralisis cerebral (PC posiblemente presenten estos factores de riesgo exacerbados en la evolucion de esta patologia y del deporte. El objetivo de este estudio fué el de evaluar la presencia de estos factores de riesgo para la lesion de la rodilla en atletas, portadores de PC, de la selección paraolímpica brasileña de futbol. MÉTODO: Veintiun futbolistas paraolímpicos, portadores de PC, con hemiparesia espástica fueron sometidos a una evaluación de los músculos flexores y extensores de la rodilla, por medio de dinamómetro isocinético Cybex 6000. Para el análisis de la fuerza muscular fué medido el pico de cambio a 60º/s, que

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.

Lesão muscular nos atletas Muscle injuries in athletes

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Guilherme Campos Barroso

2011-01-01

Full Text Available Este artigo tem por objetivo demonstrar a fisiologia, o diagnóstico e o tratamento das lesões musculares com foque nos atletas, suas demandas e expectativas. As lesões musculares estão entre as queixas mais comuns no atendimento ortopédico, ocorrendo tanto em atletas como em não atletas. Estas lesões caracterizam um desafio para os especialistas, haja vista a lenta recuperação que afasta o atleta dos treinamentos e competições, as frequentes sequelas e a recorrência das lesões. A maior parte das lesões musculares ocorre durante atividade desportiva, correspondendo de 10 a 55% de todas as lesões. Os músculos mais comumente afetados são os isquiotibiais, quadríceps e gastrocnêmios. Músculos estes biarticulares que estão mais sujeitos a forças de aceleração e desaceleração. O tratamento da lesão muscular varia desde o tratamento conservador até o tratamento cirúrgico. Novos procedimentos estão sendo utilizados, como a câmara hiperbárica e o uso de fatores de crescimento. No entanto, ainda é grande o número de recidivas de lesões. A lesão muscular continua sendo um tema com várias controvérsias. Novos tratamentos estão sendo pesquisados e desenvolvidos. A prevenção com fortalecimento muscular, o alongamento e o equilíbrio muscular continuam sendo o melhor "tratamento".This article had the aim of demonstrating the physiology, diagnosis and treatment of muscle injuries, focusing on athletes and their demands and expectations. Muscle injuries are among the most common complaints in orthopedic practice, occurring both among athletes and among non-athletes. These injuries present a challenge for specialists, due to the slow recovery, during which time athletes are unable to take part in training and competitions, and due to frequent sequelae and recurrences of the injuries. Most muscle injuries (between 10% and 55% of all injuries occur during sports activities. The muscles most commonly affected are the

Complementary and alternative medicine for Duchenne and Becker muscular dystrophies: characteristics of users and caregivers.

Science.gov (United States)

Zhu, Yong; Romitti, Paul A; Conway, Kristin M; Andrews, Jennifer; Liu, Ke; Meaney, F John; Street, Natalie; Puzhankara, Soman; Druschel, Charlotte M; Matthews, Dennis J

2014-07-01

Complementary and alternative medicine is frequently used in the management of chronic pediatric diseases, but little is known about its use by those with Duchenne or Becker muscular dystrophy. Complementary and alternative medicine use by male patients with Duchenne or Becker muscular dystrophy and associations with characteristics of male patients and their caregivers were examined through interviews with 362 primary caregivers identified from the Muscular Dystrophy Surveillance, Tracking, and Research Network. Overall, 272 of the 362 (75.1%) primary caregivers reported that they had used any complementary and alternative medicine for the oldest Muscular Dystrophy Surveillance, Tracking, and Research Network male in their family. The most commonly reported therapies were from the mind-body medicine domain (61.0%) followed by those from the biologically based practice (39.2%), manipulative and body-based practice (29.3%), and whole medical system (6.9%) domains. Aquatherapy, prayer and/or blessing, special diet, and massage were the most frequently used therapies. Compared with nonusers, male patients who used any therapy were more likely to have an early onset of symptoms and use a wheel chair; their caregivers were more likely to be non-Hispanic white. Among domains, associations were observed with caregiver education and family income (mind-body medicines [excluding prayer and/or blessing only] and whole medical systems) and Muscular Dystrophy Surveillance, Tracking, and Research Network site (biologically based practices and mind-body medicines [excluding prayer and/or blessing only]). Complementary and alternative medicine use was common in the management of Duchenne and Becker muscular dystrophies among Muscular Dystrophy Surveillance, Tracking, and Research Network males. This widespread use suggests further study to evaluate the efficacy of integrating complementary and alternative medicine into treatment regimens for Duchenne and Becker muscular

An unusual variant of Becker muscular dystrophy

NARCIS (Netherlands)

de Visser, M.; Bakker, E.; Defesche, J. C.; Bolhuis, P. A.; van Ommen, G. J.

1990-01-01

We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed

What Are the Treatments for Muscular Dystrophy?

Science.gov (United States)

... Child Neurology Society. (2005). Practice parameter: Corticosteroid treatment of Duchenne dystrophy. Neurology, 64 , 13-20. Retrieved June 22, 2012, ... Statement. (2004). Respiratory care of the patient with Duchenne muscular ... American Journal of Respiratory and Critical Care Medicine, 170, 456-465. ...

Progress study of the cardiac damage in Duchenne muscular dystrophy

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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.

Distrofia miotônica tipo 1 em pacientes com catarata: diagnóstico molecular para triagem e aconselhamento genético Myotonic dystrophy type 1 in cataract patients: Molecular diagnosis for screening and genetic counseling

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María Verónica Muñoz Rojas

2005-02-01

Full Text Available OBJETIVOS: Detectar novos pacientes portadores da mutação e pré-mutação da DM1, entre pacientes com catarata e realizar aconselhamento genético. MÉTODOS: Foi estudado o DNA de 60 pacientes, por meio da análise por reação em cadeia de polimerase. Este estudo foi realizado no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto e os pacientes foram selecionados a partir dos atendimentos realizados no Ambulatório de Catarata do Departamento de Oftalmologia, entre 01/01/1982 a 30/06/1995. Os critérios de seleção foram pacientes com menos de 55 anos, com catarata bilateral, sem fator causal que justificasse a lesão, exceto por diabete melito tipo 2 com ou sem sinais neuromusculares sugestivos de distrofia miotônica. RESULTADOS: Foram encontrados 3 pacientes com a mutação completa, correspondendo a 5% da amostra. Nenhum portador da pré-mutação foi encontrado. A partir dos pacientes diagnosticados, outros familiares afetados foram detectados. CONCLUSÕES: Este estudo enfatiza a importância da triagem de distrofia miotônica tipo 1 (DM1 entre pacientes com catarata, e mostra, também, a importância do aconselhamento genético destes pacientes.PURPOSE: To detect MD1 premutation and full mutation carriers among cataract patients and offer familial genetic counseling. METHODS: We studied the DNA of 60 selected cataract patients through polymerase chain reaction analysis. This study was performed at the "Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto" where selected patients had been examined at the Cataract Outpatient Clinic from 01/01/1982 to 30/06/1995. Selection criteria were age under 55 with no obvious precipitating factor, except diabetes mellitus type 2, with or without neuromuscular signs suggestive of myotonic dystrophy. RESULTS: Three patients were found to have a full mutation corresponding to 5% of the group. Additional affected individuals were found among patients' relatives. No

Anestesia para colecistectomia videolaparoscópica em paciente portador de Doença de Steinert: relato de caso e revisão de literatura Anestesia para colecistectomía videolaparoscópica en oaciente oortador de Enfermedad de Steinert: relato de caso y revisión de la literatura Anesthesia for videolaparoscopic cholecystectomy in a patient with Steinert Disease: case report and review of the literature

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Flora Margarida Barra Bisinotto

2010-04-01

Full Text Available JUSTIFICATIVA E OBJETIVOS: As distrofias miotônicas são doenças neuromusculares de transmissão autossômica dominante. Dentre elas, a distrofia miotônica tipo 1 (DM1, ou doença de Steinert, é a mais comum no adulto e, além do envolvimento muscular, apresenta manifestações sistêmicas importantes. A DM1 representa um desafio para o anestesiologista. Os pacientes apresentam maior sensibilidade às drogas anestésicas e complicações, principalmente cardíacas e pulmonares. Além disso, há a possibilidade de apresentarem hipertermia maligna e crise miotônica. Descreveu-se o caso de um paciente que teve complicação pulmonar importante após ser submetido à anestesia geral. RELATO DO CASO: Paciente de 39 anos, portador de DM1, foi submetido à anestesia geral para colecistectomia videolaparoscópica. A anestesia foi venosa total com propofol e remifentanil e rocurônio. O procedimento cirúrgico de 90 minutos não apresentou intercorrências, mas após a extubação o paciente apresentou insuficiência respiratória e crise miotônica, que tornou a intubação traqueal impossível. Utilizou-se a máscara laríngea, que possibilitou a oxigenação adequada, e a ventilação mecânica foi mantida até a recuperação total da atividade respiratória. Evolução ocorreu sem outras complicações. CONCLUSÕES: A DM1 é uma doença que apresenta várias peculiaridades para o anestesiologista. O conhecimento minucioso do seu envolvimento sistêmico, associado à ação diferenciada das drogas anestésicas nesses pacientes, proporcionará um ato anestésicocirúrgico mais seguro.JUSTIFICATIVA Y OBJETIVOS: Las distrofias miotónicas son enfermedades neuromusculares de transmisión autosómica dominante. Entre ellas está la distrofia miotónica tipo 1 (DM1, o enfermedad de Steinert, que es la más común en el adulto y además de la involucración muscular, presenta manifestaciones sistémicas importantes. La DM1 representa un reto para el

The effects of exposure to slender and muscular images on male body dissatisfaction.

Science.gov (United States)

Galioto, Rachel; Crowther, Janis H

2013-09-01

This research examined the effects of appearance-based comparisons to muscular and slender idealized male bodies and the contribution of internalization and social comparison to change in body dissatisfaction. Participants were 111 male undergraduates who completed measures of body dissatisfaction, internalization, and social comparison and viewed images of either muscular or slender men in advertisements or product-only advertisements. Results indicated that exposure to both muscular and slender images was associated with an increase in body dissatisfaction, with no significant differences in the change in body dissatisfaction between the two image conditions. Internalization and trait social comparison were each associated with an increase in body dissatisfaction; however, upward social comparison was only a significant predictor of a change in body dissatisfaction for the males who viewed muscular images. These results highlight the impact of slender models on young men's body dissatisfaction and support the examination of media literacy interventions with this population. Copyright © 2013 Elsevier Ltd. All rights reserved.

Late-onset Becker-type muscular dystrophy in a Border terrier dog.

Science.gov (United States)

Jeandel, A; Garosi, L S; Davies, L; Guo, L T; Salgüero, R; Shelton, G D

2018-01-29

A 9-year-old Border terrier was presented to a referral hospital after a 1-year history of progressive stiffness and exercise intolerance. Neurological examination was consistent with a neuromuscular disorder. Serum creatine kinase activity was mildly elevated. A myopathy was suspected based on MRI findings and electrophysiological examination. Muscle histopathology was consistent with a severe non-inflammatory myopathy of a dystrophic type. Immunofluorescence and western blotting confirmed a dystrophinopathy with an 80-kDa truncated dystrophin fragment similar to Becker muscular dystrophy in people. To our knowledge, this is the first description of a late-onset Becker-type muscular dystrophy in a dog, and the first description of a dystrophinopathy in a Border terrier. Muscular dystrophy in dogs should not be ruled out based on late onset clinical signs and only mildly elevated creatine kinase. © 2018 British Small Animal Veterinary Association.

Sparks, signals and shock absorbers: how dystrophin loss causes muscular dystrophy.

Science.gov (United States)

Batchelor, Clare L; Winder, Steve J

2006-04-01

The dystrophin-glycoprotein complex (DGC) can be considered as a specialized adhesion complex, linking the extracellular matrix to the actin cytoskeleton, primarily in muscle cells. Mutations in several components of the DGC lead to its partial or total loss, resulting in various forms of muscular dystrophy. These typically manifest as progressive wasting diseases with loss of muscle integrity. Debate is ongoing about the precise function of the DGC: initially a strictly mechanical role was proposed but it has been suggested that there is aberrant calcium handling in muscular dystrophy and, more recently, changes in MAP kinase and GTPase signalling have been implicated in the aetiology of the disease. Here, we discuss new and interesting developments in these aspects of DGC function and attempt to rationalize the mechanical, calcium and signalling hypotheses to provide a unifying hypothesis of the underlying process of muscular dystrophy.

Miopatia pseudo-hipertrófica por cisticercose: registro de caso

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Maria Ines de Vilhena Lana-Peixoto

1985-12-01

Full Text Available O caso de uma paciente com aumento de volume das pernas, dor discreta e dificuldade para deambular é descrito. A eletromiografia mostrou potenciais de unidades motoras gigantes com padrão de interferência completo. A biópsia dos gastrocnêmius direito e esquerdo revelou presença de um cisticerco além de hipertrofia das fibras musculares e infiltrado inflamatório. A revisão da literatura demonstra que apenas 12 casos de miopatia pseudo-hipertrófica causada por cisticercos foram relatados e que a incidência é duas vezes maior no sexo masculino do que no feminino. Em cerca de metade dos casos há história de epilepsia. Dor e fraqueza muscular discretas são frequentes. Em geral a pseudo-hipertrofia ocorre nas cinturas escapular e pélvica simultaneamente. Miotonia é achado raro e nódulos subcutâneos estão presentes na maioria dos pacientes. Nosso paciente difere dos outros relatados na literatura por apresentar pseudo-hipertrofia restrita às pernas, principalmente à esquerda, com eletromiografia revelando potenciais de unidades motoras gigantes. A patogênese desta condição é discutida e o diagnóstico diferencial deve ser feito com distrofia muscular pseudo-hipertrófica, triquinose, miotonia congênita, hipotireoidismo, amiloidose e a forma juvenil da glicogenose do tipo I (doença de Pompe.

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.

Recondicionamento muscular na DPOC: principais intervenções e novas tendências Recondicionamiento muscular en la enfermedad pulmonar obstructiva crónica (EPOC: principales intervenciones y nuevas tendencias Muscle reconditioning in COPD: main interventions and new tendencies

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Victor Zuniga Dourado

2004-08-01

Full Text Available Há algum tempo o condicionamento físico vem sendo parte obrigatória no tratamento de portadores de DPOC. Estes pacientes apresentam comumente intolerância ao exercício de intensidade variável e relacionada à disfunção muscular esquelética. Neste sentido, o exercício físico apresenta-se como ramo mais importante no processo de reabilitação pulmonar. O exercício aeróbio e o treino de força com pesos são fundamentais no incremento de capacidade física e qualidade de vida, principalmente naqueles indivíduos que apresentam as formas moderada ou grave da DPOC. Além disso, espera-se atualmente maior desenvolvimento nas pesquisas em relação à aplicação de estimulação elétrica neuromuscular (EENM e ao uso criterioso de substâncias ergogênicas tais como esteróides anabolizantes e creatina oral. Tendo em vista as repercussões negativas da disfunção muscular e a importância da reabilitação pulmonar no tratamento da DPOC, esta revisão tem como objetivo reunir informações de estudos relevantes acerca das principais estratégias para o recondicionamento muscular esquelético nestes pacientes nos últimos 15 anos.Hace algún tiempo el condicionamiento físico viene siendo parte obligatoria en el tratamiento de portadores de EPOC. Estos pacientes presentan comúnmente intolerancia al ejercicio de intensidad variable y relacionada a la disfunción muscular esquelética. En este sentido, el ejercicio físico se presenta como la rama más importante en la rehabilitación pulmonar. El ejercicio aeróbico y el entrenamiento de la fuerza con pesas son fundamentales en el incremento de la capacidad física y en la calidad de vida, principalmente en aquellos individuos que presentan las formas moderada y grave de la EPOC. Además, se espera actualmente mayor capacidad de desenvolvimiento en las investigaciones en relación a la aplicación de la estimulación eléctrica neuromuscular (EENM y al uso criterioso de las sustancias

Interpretação dos mecanismos de gradação da força muscular através da acelerometria Interpretacion de los mecanismos de graduación de la fuerza muscular a través de la acelerometria Interpretation of the mechanisms related to the muscular strength gradation through accelerometry

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Thiago Torres da Matta

2005-10-01

ía (señal de MMG. Estos parámetros fueron analizados en las direcciones X (perpendicular a las fibras e Y (paralela a las fibras. Ambos grupos presentaron un comportamiento decreciente de la FME (Y con una carga, siendo mas pronunciado para el grupo femenino. La variáble FME (X, en el grupo femenino, presentó um comportamiento semejante a la FME (Y, siendo apenas observada diferencia estadísticamente significativa entre 20% de la CM y todas las demas cargas (p = 0,0022 para 40% y p The aim of this study was to characterize the temporal and spectral components of the muscle contractions in different contraction levels through the accelerometry. Fifteen male and twelve female right-handed individuals participated in this study. The trial was constituted by a maximal workload (MW test that allowed to determine five different workloads (20%, 40%, 60%, 80% and 100% of MW which, by its turn, allowed to determine five percentage workloads during the strength test (20%, 40%, 60%, 80%, and 100% of the MW in isometry during eight seconds each of them. A biaxial accelerometer was put on the muscular abdomen of the right brachii biceps muscle. The mean square root (RMS value, a temporal parameter, and the mean frequency (MFE, a spectral parameter were extracted from the accelerometry signals (MMG signals. Such parameters were analyzed towards the X (perpendicular to the fibers and Y (parallel to the fibers directions. Both groups presented a descent behavior pattern of the loaded MFE (Y, and the most accentuated was the female group. The MFE variable (X in the female group presented similar behavior before the MFE (Y, and it was observed a statistically significant difference only between 20% of the MW and every other workload (p = 0.0022 for 40% and p < 0.0001 for the remaining. The male group did not present any statistically significant difference between workloads. The RMS value (Y presented an ascent behavior with the workload in both genders, presenting differences

Muscular subunits transplantation for facial reanimation

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Hazan André Salo Buslik

2006-01-01

Full Text Available PURPOSE: To present an alternative technique for reconstruction of musculocutaneous damages in the face transferring innervated subsegments(subunits of the latissimus dorsi flap for replacement of various facial mimetic muscles. METHODS: One clinical case of trauma with skin and mimetic muscles damage is described as an example of the technique. The treatment was performed with microsurgical transfer of latissimus dorsi muscle subunits. Each subunit present shape and dimensions of the respective mimetic muscles replaced. The origin, insertions and force vectors for the mimicmuscle lost were considered. Each subsegment has its own arterial and venous supply with a motor nerve component for the muscular unit. RESULTS: Pre and one year postoperative photos registration of static and dynamic mimic aspects, as well as digital electromyography digital data of the patients were compared. The transplanted muscular units presented myoeletric activity, fulfilling both the functional and cosmetic aspect. CONCLUSION: This technique seems to be a promising way to deal with the complex musculocutaneous losses of the face as well as facial palsy.

Histopathological findings in Becker-type muscular dystrophy

NARCIS (Netherlands)

ten Houten, R.; de Visser, M.

1984-01-01

Muscle biopsy specimens from 14 patients with Becker-type muscular dystrophy were analyzed to investigate possible neurogenic factors underlying the histopathological changes. Group atrophy, pyknotic nuclear clumps, and angular small fibers were seen respectively in 71%, 85%, and 100% of the cases.

La fatiga muscular en los deportistas: métodos físicos, nutricionales y farmacológicos para combatirla

OpenAIRE

Urdampilleta, Aritz; Armentia, Ivan; Gómez-Zorita, Saioa; Martínez Sanz, José Miguel; Mielgo-Ayuso, Juan

2015-01-01

Antecedentes: Una rápida recuperación en los deportistas es un aspecto fundamental para continuar entrenando a intensidades elevadas y seguir progresando más, especialmente en deportes en los que se compite todos los días. Los ejercicios excéntricos producen rupturas de miofibrillas musculares, sobre todo si se llevan a cabo de forma intensa y no habitual provocando daño muscular. Este daño muscular produce una fatiga muscular que limita el rendimiento muscular, disminuyendo la fuerza, el pic...

Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies.

Science.gov (United States)

Terrill, Jessica R; Radley-Crabb, Hannah G; Iwasaki, Tomohito; Lemckert, Frances A; Arthur, Peter G; Grounds, Miranda D

2013-09-01

The muscular dystrophies comprise more than 30 clinical disorders that are characterized by progressive skeletal muscle wasting and degeneration. Although the genetic basis for many of these disorders has been identified, the exact mechanism for pathogenesis generally remains unknown. It is considered that disturbed levels of reactive oxygen species (ROS) contribute to the pathology of many muscular dystrophies. Reactive oxygen species and oxidative stress may cause cellular damage by directly and irreversibly damaging macromolecules such as proteins, membrane lipids and DNA; another major cellular consequence of reactive oxygen species is the reversible modification of protein thiol side chains that may affect many aspects of molecular function. Irreversible oxidative damage of protein and lipids has been widely studied in Duchenne muscular dystrophy, and we have recently identified increased protein thiol oxidation in dystrophic muscles of the mdx mouse model for Duchenne muscular dystrophy. This review evaluates the role of elevated oxidative stress in Duchenne muscular dystrophy and other forms of muscular dystrophies, and presents new data that show significantly increased protein thiol oxidation and high levels of lipofuscin (a measure of cumulative oxidative damage) in dysferlin-deficient muscles of A/J mice at various ages. The significance of this elevated oxidative stress and high levels of reversible thiol oxidation, but minimal myofibre necrosis, is discussed in the context of the disease mechanism for dysferlinopathies, and compared with the situation for dystrophin-deficient mdx mice. © 2013 The Authors Journal compilation © 2013 FEBS.

Living with illness and self-transcendence: the lived experience of patients with spinal muscular atrophy.

Science.gov (United States)

Ho, Hsin-Mei; Tseng, Ying-Hua; Hsin, Yu-Mei; Chou, Fan-Hao; Lin, Wei-Ting

2016-11-01

The aim of this study was to explore the lived experiences of patients afflicted with spinal muscular atrophy. Existing research studies on spinal muscular atrophy address the physical and psychological effects and complications of the disease; they also provide suggestions for how to improve the current management of this disease. However, information is limited on the disease process and the lived experience of spinal muscular atrophy patients. A phenomenological approach was conducted. Through 18 in-depth interviews recorded by a pen voice recorder, this study collected data obtained from a purposive sample of nine patients from the, 'Taiwan spinal muscular atrophy Families,' between November 2010-August 2011. The audio recordings were transcribed verbatim and data were analysed using Colaizzi's steps. Four themes and eight subthemes were identified: a loss of control (loss of muscular strength and independence), breaking limitations (assistive device use and mobility design), transcending limitations (independence/autonomy and social development) and living with hope (cherishing life and self-control). The results showed that the lived experiences of the spinal muscular atrophy patients involved living with illness, transcending the self and pursuing the meaning of life. Facing a life-threatening illness, these patients made self-adjustments in their lifestyles and exerted themselves to positively cope with hardships and maintain dignity and self-control. These findings could serve as evidence-based practice resources for healthcare professionals in helping individuals and their family members gain an in-depth understanding of spinal muscular atrophy's progression and life course and assist individuals in improving self-integrity to with hope. © 2016 John Wiley & Sons Ltd.

Aerobic fitness, muscular strength and obesity in relation to risk of heart failure.

Science.gov (United States)

Crump, Casey; Sundquist, Jan; Winkleby, Marilyn A; Sundquist, Kristina

2017-11-01

Low physical fitness and obesity have been associated with higher risk of developing heart failure (HF), but their interactive effects are unknown. Elucidation of interactions among these common modifiable factors may help facilitate more effective primary prevention. We conducted a national cohort study to examine the interactive effects of aerobic fitness, muscular strength and body mass index (BMI) among 1 330 610 military conscripts in Sweden during 1969-1997 (97%-98% of all 18-year-old men) on risk of HF identified from inpatient and outpatient diagnoses through 2012 (maximum age 62 years). There were 11 711 men diagnosed with HF in 37.8 million person-years of follow-up. Low aerobic fitness, low muscular strength and obesity were independently associated with higher risk of HF, after adjusting for each other, socioeconomic factors, other chronic diseases and family history of HF. The combination of low aerobic fitness and low muscular strength (lowest vs highest tertiles) was associated with a 1.7-fold risk of HF (95% CI 1.6 to 1.9; pfitness, low muscular strength and obesity at the age of 18 years were independently associated with higher risk of HF in adulthood, with interactive effects between aerobic fitness and muscular strength. These findings suggest that early-life interventions may help reduce the long-term risk of HF and should include both aerobic fitness and muscular strength, even among persons with normal BMI. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

[DIAGNOSTIC VARIATIONS OF X-LINKED MUSCULAR DYSTROPHY WITH CONTRACTURES].

Science.gov (United States)

Kvirkvelia, N; Shakarishvili, R; Gugutsidze, D; Khizanishvili, N

2015-01-01

Case report with review describes X-linked muscular dystrophy with contractures in 28 years old man and his cousin. The disease revealed itself in an early stage (age 5-10), the process was progressing with apparent tendons retraction and contraction, limited movement in the areas of the neck and back of spine, atrophy of shoulder and pelvic yard and back muscles. Intellect was intact. Cardyomyopathy was exhibited. CK was normal. EMG showed classic myopathic features. Muscle biopsy showed different caliber groups of muscle fibers, growth of endo-perimesial connective tissue. Clinical manifestations together with electrophysiological and histological data suggest consistency with Rotthauwe-Mortier-Bayer X-linked muscular dystrophy.

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...... 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...... in the masseter muscle, whereas pathologic findings in the anterior digastric muscle were limited to increased number of cells in slightly enlarged interfiber connective tissue. The masticatory pattern was distorted, and strength of mandibular elevator muscles was less than one third of the norm, whereas...

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....

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...

BIOCHEMICAL MECHANISM OF AUTOLYTIC PROCESSES OF MUSCULAR TISSUE OF FISHES

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L. V. Antipova

2015-01-01

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

Adaptive characteristics of main muscular groups’ static endurance in 6 years children in initial school period

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S.V. Bondarenko

2017-08-01

Full Text Available Purpose: to study adaptation of 6 years children’s muscular skeletal apparatus to learning work by indicators of static endurance dynamic. Material: in the research 6 years children participated (n=64, boys - n=36, girls- n=28. Indicators of main muscular groups’ static endurance were studied. Results: we determined comparative topography of 13 muscular groups’ static endurance and substantial sex dimorphism was found. In 9 muscular groups the boys advantage was 11.7 - 50.2% (р < 0.05 ÷ 0.01. The level and correlation of muscles-antagonists’ static endurance from the point of evolutionary and ontogeny development of muscular-skeletal apparatus were substantiated. At the end of semester we found significant (р < 0.001 reduction of static endurance indicators as well as the fact that torso muscles were the most sensitive to influence of learning work’s static component. The level of static endurance weakening, under which syndrome of static over-tension appears, was determined. Conclusions: the research results permit to balance the volumes of learning load at initial stage of school work. Organizational-methodic principles of learning and physical education system for children shall be oriented on overcoming muscular-skeletal apparatus’s dysfunctions.

Duchenne muscular dystrophy: High-resolution melting curve ...

African Journals Online (AJOL)

Duchenne muscular dystrophy: High-resolution melting curve analysis as an affordable diagnostic mutation scanning tool in a South African cohort. ... Genetic screening for D/BMD in South Africa currently includes multiple ligase-dependent probe amplification (MLPA) for exonic deletions and duplications and linkage ...

Temporalis muscle hypertrophy and reduced skull eccentricity in Duchenne muscular dystrophy.

Science.gov (United States)

Straathof, C S M; Doorenweerd, N; Wokke, B H A; Dumas, E M; van den Bergen, J C; van Buchem, M A; Hendriksen, J G M; Verschuuren, J J G M; Kan, H E

2014-10-01

Muscle hypertrophy and muscle weakness are well known in Duchenne muscular dystrophy. Decreased muscle force can have secondary effects on skeletal growth and development such as facial and dental morphology changes. In this study, we quantified temporal muscle thickness, circumference, and eccentricity of the skull and the head on T1-weighted magnetic resonance imaging (MRI) scans of the head of 15 Duchenne muscular dystrophy patients and 15 controls. Average temporal muscle thickness was significantly increased in patients (12.9 ± 5.2 mm) compared to controls (6.8 ± 1.4 mm) (P muscle thickness and skull eccentricity were significantly negatively correlated in patients, and positively in controls. Hypertrophy of the temporal muscles and changes in skull eccentricity appear to occur early in the course of Duchenne muscular dystrophy. Further studies in younger patients are needed to confirm a causal relationship. © The Author(s) 2014.

Weekly Time Course of Neuro-Muscular Adaptation to Intensive Strength Training.

Science.gov (United States)

Brown, Niklas; Bubeck, Dieter; Haeufle, Daniel F B; Weickenmeier, Johannes; Kuhl, Ellen; Alt, Wilfried; Schmitt, Syn

2017-01-01

Detailed description of the time course of muscular adaptation is rarely found in literature. Thus, models of muscular adaptation are difficult to validate since no detailed data of adaptation are available. In this article, as an initial step toward a detailed description and analysis of muscular adaptation, we provide a case report of 8 weeks of intense strength training with two active, male participants. Muscular adaptations were analyzed on a morphological level with MRI scans of the right quadriceps muscle and the calculation of muscle volume, on a voluntary strength level by isometric voluntary contractions with doublet stimulation (interpolated twitch technique) and on a non-voluntary level by resting twitch torques. Further, training volume and isokinetic power were closely monitored during the training phase. Data were analyzed weekly for 1 week prior to training, pre-training, 8 weeks of training and 2 weeks of detraining (no strength training). Results show a very individual adaptation to the intense strength training protocol. While training volume and isokinetic power increased linearly during the training phase, resting twitch parameters decreased for both participants after the first week of training and stayed below baseline until de-training. Voluntary activation level showed an increase in the first 4 weeks of training, while maximum voluntary contraction showed only little increase compared to baseline. Muscle volume increased for both subjects. Especially training status seemed to influence the acute reaction to intense strength training. Fatigue had a major influence on performance and could only be overcome by one participant. The results give a first detailed insight into muscular adaptation to intense strength training on various levels, providing a basis of data for a validation of muscle fatigue and adaptation models.

Cardiac function associated with home ventilator care in Duchenne muscular dystrophy.

Science.gov (United States)

Lee, Sangheun; Lee, Heeyoung; Eun, Lucy Youngmin; Gang, Seung Woong

2018-02-01

Cardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications. To clarify cardiopulmonary function, we compared cardiac function between the home ventilator-assisted and non-ventilator-assisted groups. We retrospectively reviewed patients with Duchenne muscular dystrophy from January 2010 to March 2016 at Gangnam Severance Hospital. Demographic characteristics, pulmonary function, and echocardiography data were investigated. Fifty-four patients with Duchenne muscular dystrophy were divided into 2 groups: home ventilator-assisted and non-ventilator-assisted. The patients in the home ventilator group were older (16.25±1.85 years) than those in the nonventilator group (14.73±1.36 years) ( P =0.001). Height, weight, and body surface area did not differ significantly between groups. The home ventilator group had a lower seated functional vital capacity (1,038±620.41 mL) than the nonventilator group (1,455±603.12 mL). Mean left ventricular ejection fraction and fractional shortening were greater in the home ventilator group, but the data did not show any statistical difference. The early ventricular filling velocity/late ventricular filling velocity ratio (1.7±0.44) was lower in the home ventilator group than in the nonventilator group (2.02±0.62). The mitral valve annular systolic velocity was higher in the home ventilator group (estimated β, 1.06; standard error, 0.48). Patients with Duchenne muscular dystrophy on a ventilator may have better systolic and diastolic cardiac functions. Noninvasive ventilator assistance can help preserve cardiac function. Therefore, early utilization of noninvasive ventilation or oxygen may positively influence cardiac function in patients with Duchenne muscular dystrophy.

A method to accurately estimate the muscular torques of human wearing exoskeletons by torque sensors.

Science.gov (United States)

Hwang, Beomsoo; Jeon, Doyoung

2015-04-09

In exoskeletal robots, the quantification of the user's muscular effort is important to recognize the user's motion intentions and evaluate motor abilities. In this paper, we attempt to estimate users' muscular efforts accurately using joint torque sensor which contains the measurements of dynamic effect of human body such as the inertial, Coriolis, and gravitational torques as well as torque by active muscular effort. It is important to extract the dynamic effects of the user's limb accurately from the measured torque. The user's limb dynamics are formulated and a convenient method of identifying user-specific parameters is suggested for estimating the user's muscular torque in robotic exoskeletons. Experiments were carried out on a wheelchair-integrated lower limb exoskeleton, EXOwheel, which was equipped with torque sensors in the hip and knee joints. The proposed methods were evaluated by 10 healthy participants during body weight-supported gait training. The experimental results show that the torque sensors are to estimate the muscular torque accurately in cases of relaxed and activated muscle conditions.

A Method to Accurately Estimate the Muscular Torques of Human Wearing Exoskeletons by Torque Sensors

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Beomsoo Hwang

2015-04-01

Full Text Available In exoskeletal robots, the quantification of the user’s muscular effort is important to recognize the user’s motion intentions and evaluate motor abilities. In this paper, we attempt to estimate users’ muscular efforts accurately using joint torque sensor which contains the measurements of dynamic effect of human body such as the inertial, Coriolis, and gravitational torques as well as torque by active muscular effort. It is important to extract the dynamic effects of the user’s limb accurately from the measured torque. The user’s limb dynamics are formulated and a convenient method of identifying user-specific parameters is suggested for estimating the user’s muscular torque in robotic exoskeletons. Experiments were carried out on a wheelchair-integrated lower limb exoskeleton, EXOwheel, which was equipped with torque sensors in the hip and knee joints. The proposed methods were evaluated by 10 healthy participants during body weight-supported gait training. The experimental results show that the torque sensors are to estimate the muscular torque accurately in cases of relaxed and activated muscle conditions.

[Specific features of Becker Muscular Dystrophy patients and female carriers of Duchenne Muscular Dystrophy].

Science.gov (United States)

Magot, A; Mercier, S; Péréon, Y

2015-12-01

Becker muscular dystrophy (BMD) was first described in 1955 and linked to the DMD gene in 1987. Compared to Duchenne muscular dystrophy (DMD), clinical onset of BMD usually occurs after the age of 12 and wheelchair is required after the age of 16. BMD is characterized by generalized weakness first affecting limb girdle muscles, hypertrophy of the calves and cardiomyopathy in males. Some patients have only mild symptoms such as cramps or elevated serum creatine kinases (SCK) throughout all their lives. SCK levels are usually elevated. Muscle biopsy (immunohistochemistry or immunoblotting) shows a dystrophic pattern with abnormal dystrophin staining. Diagnosis is confirmed by DMD gene sequencing. Deletions or duplications of one or several exons are identified in the majority of cases. A multidisciplinary approach is recommended for the care management of these patients with a particular attention to the cardiomyopathy, which is typically responsible for death but can be prevented by specific treatment. X-linked dilated cardiomyopathies linked to DMD gene are a phenotypic continuum of BMD. Some female carriers of DMD mutations exhibit clinical symptoms of variable severity, often milder and beginning later than in males. The cardiomyopathy is the most frequent feature that should be especially monitored in these patients. Genetic counselling should be systematically proposed. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy—Implications for Therapies

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Ahlke Heydemann

2018-06-01

Full Text Available The interactions between nutrition and metabolism and skeletal muscle have long been known. Muscle is the major metabolic organ—it consumes more calories than other organs—and therefore, there is a clear need to discuss these interactions and provide some direction for future research areas regarding muscle pathologies. In addition, new experiments and manuscripts continually reveal additional highly intricate, reciprocal interactions between metabolism and muscle. These reciprocal interactions include exercise, age, sex, diet, and pathologies including atrophy, hypoxia, obesity, diabetes, and muscle myopathies. Central to this review are the metabolic changes that occur in the skeletal muscle cells of muscular dystrophy patients and mouse models. Many of these metabolic changes are pathogenic (inappropriate body mass changes, mitochondrial dysfunction, reduced adenosine triphosphate (ATP levels, and increased Ca2+ and others are compensatory (increased phosphorylated AMP activated protein kinase (pAMPK, increased slow fiber numbers, and increased utrophin. Therefore, reversing or enhancing these changes with therapies will aid the patients. The multiple therapeutic targets to reverse or enhance the metabolic pathways will be discussed. Among the therapeutic targets are increasing pAMPK, utrophin, mitochondrial number and slow fiber characteristics, and inhibiting reactive oxygen species. Because new data reveals many additional intricate levels of interactions, new questions are rapidly arising. How does muscular dystrophy alter metabolism, and are the changes compensatory or pathogenic? How does metabolism affect muscular dystrophy? Of course, the most profound question is whether clinicians can therapeutically target nutrition and metabolism for muscular dystrophy patient benefit? Obtaining the answers to these questions will greatly aid patients with muscular dystrophy.

Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy-Implications for Therapies.

Science.gov (United States)

Heydemann, Ahlke

2018-06-20

The interactions between nutrition and metabolism and skeletal muscle have long been known. Muscle is the major metabolic organ—it consumes more calories than other organs—and therefore, there is a clear need to discuss these interactions and provide some direction for future research areas regarding muscle pathologies. In addition, new experiments and manuscripts continually reveal additional highly intricate, reciprocal interactions between metabolism and muscle. These reciprocal interactions include exercise, age, sex, diet, and pathologies including atrophy, hypoxia, obesity, diabetes, and muscle myopathies. Central to this review are the metabolic changes that occur in the skeletal muscle cells of muscular dystrophy patients and mouse models. Many of these metabolic changes are pathogenic (inappropriate body mass changes, mitochondrial dysfunction, reduced adenosine triphosphate (ATP) levels, and increased Ca 2+ ) and others are compensatory (increased phosphorylated AMP activated protein kinase (pAMPK), increased slow fiber numbers, and increased utrophin). Therefore, reversing or enhancing these changes with therapies will aid the patients. The multiple therapeutic targets to reverse or enhance the metabolic pathways will be discussed. Among the therapeutic targets are increasing pAMPK, utrophin, mitochondrial number and slow fiber characteristics, and inhibiting reactive oxygen species. Because new data reveals many additional intricate levels of interactions, new questions are rapidly arising. How does muscular dystrophy alter metabolism, and are the changes compensatory or pathogenic? How does metabolism affect muscular dystrophy? Of course, the most profound question is whether clinicians can therapeutically target nutrition and metabolism for muscular dystrophy patient benefit? Obtaining the answers to these questions will greatly aid patients with muscular dystrophy.

Impact of muscular uptake and statistical noise on tumor quantification based on simulated FDG-PET studies

International Nuclear Information System (INIS)

Silva-Rodríguez, Jesús; Domínguez-Prado, Inés; Pardo-Montero, Juan; Ruibal, Álvaro

2017-01-01

Purpose: The aim of this work is to study the effect of physiological muscular uptake variations and statistical noise on tumor quantification in FDG-PET studies. Methods: We designed a realistic framework based on simulated FDG-PET acquisitions from an anthropomorphic phantom that included different muscular uptake levels and three spherical lung lesions with diameters of 31, 21 and 9 mm. A distribution of muscular uptake levels was obtained from 136 patients remitted to our center for whole-body FDG-PET. Simulated FDG-PET acquisitions were obtained by using the Simulation System for Emission Tomography package (SimSET) Monte Carlo package. Simulated data was reconstructed by using an iterative Ordered Subset Expectation Maximization (OSEM) algorithm implemented in the Software for Tomographic Image Reconstruction (STIR) library. Tumor quantification was carried out by using estimations of SUV max , SUV 50 and SUV mean from different noise realizations, lung lesions and multiple muscular uptakes. Results: Our analysis provided quantification variability values of 17–22% (SUV max ), 11–19% (SUV 50 ) and 8–10% (SUV mean ) when muscular uptake variations and statistical noise were included. Meanwhile, quantification variability due only to statistical noise was 7–8% (SUV max ), 3–7% (SUV 50 ) and 1–2% (SUV mean ) for large tumors (>20 mm) and 13% (SUV max ), 16% (SUV 50 ) and 8% (SUV mean ) for small tumors (<10 mm), thus showing that the variability in tumor quantification is mainly affected by muscular uptake variations when large enough tumors are considered. In addition, our results showed that quantification variability is strongly dominated by statistical noise when the injected dose decreases below 222 MBq. Conclusions: Our study revealed that muscular uptake variations between patients who are totally relaxed should be considered as an uncertainty source of tumor quantification values. - Highlights: • Distribution of muscular uptake from 136 PET

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....

Muscular and Cardiorespiratory Fitness in Homeschool versus Public School Children.

Science.gov (United States)

Kabiri, Laura S; Mitchell, Katy; Brewer, Wayne; Ortiz, Alexis

2017-08-01

The growth and unregulated structure of homeschooling creates an unknown population in regard to muscular and cardiorespiratory fitness. The purpose of this research was to compare muscular and cardiorespiratory fitness between elementary school aged homeschool and public school children. Homeschool children ages 8-11 years old (n = 75) completed the curl-up, 90° push-up, and Progressive Aerobic Capacity Endurance Run (PACER) portions of the FitnessGram to assess abdominal and upper body strength and endurance as well as cardiorespiratory fitness. Comparisons to public school children (n = 75) were made using t tests and chi-square tests. Homeschool children showed significantly lower abdominal (t(148) = -11.441, p fitness by total PACER laps (t(108) = 0.879, p = .381) or estimated VO 2max (t(70) = 1.187, p = .239; χ 2 (1) = 1.444, p = .486). Homeschool children showed significantly lower levels of both abdominal and upper body muscular fitness compared with their age and gender matched public school peers but no difference in cardiorespiratory fitness.

Gay male attraction toward muscular men: does mating context matter?

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Varangis, Eleanna; Lanzieri, Nicholas; Hildebrandt, Tom; Feldman, Matthew

2012-03-01

The purpose of this study was to examine gay men's perceived attractiveness of male figures based on short-term and long-term partner contexts. A sample of 190 gay adult men rated the attractiveness of line-drawings depicting male figures varying systematically in muscularity and body fat percentage in both short-term and long-term dating contexts. Mixed effects modeling was used to estimate the effects of figure (muscularity and body fat), dating context (short-term vs. long-term), and individual rater characteristics on attractiveness ratings. Results indicated that figure muscularity and body-fat had significant non-linear (i.e., quadratic) relationships with attractiveness ratings, and short-term dating context was associated with more discriminating ratings of attractiveness. Interactions between individual characteristics and figure characteristics indicated that the more available the individual and lower body fat, the more discriminating they were in ratings of attractiveness. The implications for future investigations considering both object and observer characteristics of attractiveness preferences are discussed. Copyright © 2012 Elsevier Ltd. All rights reserved.

Effects of operative treatment for muscular asthenopia caused by esophoria

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Tao Zeng

2016-05-01

Full Text Available AIM:To observe the effects of operative treatment for muscular asthenopia caused by esophoria. METHODS:Twenty-one cases(42 eyeswith muscular asthenopia caused by esophoria were included. After examination of refraction, phoria and fusion function, all cases were given operative treatment to correct esophoria. RESULTS:At 1wk after surgery, clinical symptoms were improved evidently in all cases, such as headache, diplopia and eye swelling. After followed up for 1a, no recrudescence was found. Before surgery, at 1wk and 1a after surgery, esophoria in the distance were 20.3△±6.3△,-3.1△±1.4△,0.7△±1.6△ respectively and esophoria in the near distance were 10.5△±3.1△,-1.3△±0.6△,1.5△±0.8△ respectively. By comparison of esophoria before and after surgery in different stages separately, the differences were statistically(PP>0.05. CONCLUSION:Esophoria operation may relieve obviously muscular asthenopia caused by esophoria without changing fusion function.

Adaptability and Prediction of Anticipatory Muscular Activity Parameters to Different Movements in the Sitting Position.

Science.gov (United States)

Chikh, Soufien; Watelain, Eric; Faupin, Arnaud; Pinti, Antonio; Jarraya, Mohamed; Garnier, Cyril

2016-08-01

Voluntary movement often causes postural perturbation that requires an anticipatory postural adjustment to minimize perturbation and increase the efficiency and coordination during execution. This systematic review focuses specifically on the relationship between the parameters of anticipatory muscular activities and movement finality in sitting position among adults, to study the adaptability and predictability of anticipatory muscular activities parameters to different movements and conditions in sitting position in adults. A systematic literature search was performed using PubMed, Science Direct, Web of Science, Springer-Link, Engineering Village, and EbscoHost. Inclusion and exclusion criteria were applied to retain the most rigorous and specific studies, yielding 76 articles, Seventeen articles were excluded at first reading, and after the application of inclusion and exclusion criteria, 23 were retained. In a sitting position, central nervous system activity precedes movement by diverse anticipatory muscular activities and shows the ability to adapt anticipatory muscular activity parameters to the movement direction, postural stability, or charge weight. In addition, these parameters could be adapted to the speed of execution, as found for the standing position. Parameters of anticipatory muscular activities (duration, order, and amplitude of muscle contractions constituting the anticipatory muscular activity) could be used as a predictive indicator of forthcoming movement. In addition, this systematic review may improve methodology in empirical studies and assistive technology for people with disabilities. © The Author(s) 2016.

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

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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.

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....

A Drosophila model for Duchenne muscular dystrophy

NARCIS (Netherlands)

Plas, Mariska Cathelijne van der

2008-01-01

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

Cold modalities with different thermodynamic properties have similar effects on muscular performance and activation.

Science.gov (United States)

Vieira, A; Oliveira, A B; Costa, J R; Herrera, E; Salvini, T F

2013-10-01

Although tissue cooling is widely used in the treatment of musculoskeletal injuries there is still controversy about its effects on muscular performance. The combination of cooling and exercise justifies the study of this topic. The aim was to compare the effects of ice pack and cold-water immersion on the muscular performance parameters of plantar flexors and muscular activation of the triceps surae. 41 healthy men (mean age: 22.1 years, SD: 2.9) were randomly assigned to cooling with either ice pack (n=20) or cold-water immersion (n=21). Independent variables were cold modality (ice pack or cold-water immersion) and pre- and post-cooling measurement time. Dependent variables were muscular performance (measured during isometric and concentric contractions of plantar flexors) and electromyography parameters of the triceps surae (median frequency and root mean square amplitude). Dependent-samples t-tests were used to compare pre- and post-cooling data and independent-samples t-tests were used to compare the difference (pre- and post-cooling) between groups. Ice pack increased isometric peak torque (mean: 9.00 Nm, P=0.01) and both cold modalities reduced muscular activation in triceps surae (Pimmersion and ice pack reduced peak torque and total work during dynamic isokinetic contraction at both velocities (mean: -11,00 Nm, Pimmersion decrease concentric muscular performance. These results indicate that these cooling methods should be chosen with caution, considering the type of task required during training or rehabilitation. New studies investigating other muscle groups and joints are necessary. © Georg Thieme Verlag KG Stuttgart · New York.

Toxic myopathies: muscle biopsy features Miopatia tóxica: biópsia muscular

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Rosana Herminia Scola

2007-03-01

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

Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation.

Science.gov (United States)

Ebrahimzadeh-Vesal, Reza; Teymoori, Atieh; Azimi-Nezhad, Mohsen; Hosseini, Forough Sadat

2018-02-20

Duchenne Muscular Dystrophy (DMD; MIM 310200) is one of the most common and severe type of hereditary muscular dystrophies. The disease is caused by mutations in the dystrophin gene. The dystrophin gene is associated with X-linked recessive Duchenne and Becker muscular dystrophy. This disease occurs almost exclusively in males. The clinical symptoms of muscle weakness usually begin at childhood. The main symptoms of this disorder are gradually muscular weakness. The affected patients have inability to standing up and walking. Death is usually due to respiratory infection or cardiomyopathy. In this article, we have reported the discovery of a new nonsense mutation that creates abnormal stop codon in the dystrophin gene. This mutation was detected using Next Generation Sequencing (NGS) technique. The subject was a 17-year-old male with muscular dystrophy that who was suspected of having DMD. He was referred to Hakim medical genetics center of Neyshabur, IRAN. Copyright © 2017. Published by Elsevier B.V.

Antimyosin scintigraphy in patients with acquired and hereditary muscular disorders

International Nuclear Information System (INIS)

Loefberg, M.; Liewendahl, K.; Savolainen, S.; Nikkinen, P.; Lamminen, A.; Tiula, E.; Somer, H.

1994-01-01

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

Muscular strength and incident hypertension in normotensive and prehypertensive men.

Science.gov (United States)

Maslow, Andréa L; Sui, Xuemei; Colabianchi, Natalie; Hussey, Jim; Blair, Steven N

2010-02-01

The protective effects of cardiorespiratory fitness (CRF) on hypertension (HTN) are well known; however, the association between muscular strength and incidence of HTN has yet to be examined. This study evaluated the strength-HTN association with and without accounting for CRF. Participants were 4147 men (age = 20-82 yr) in the Aerobics Center Longitudinal Study for whom an age-specific composite muscular strength score was computed from measures of a one-repetition maximal leg and a one-repetition maximal bench press. CRF was quantified by maximal treadmill exercise test time in minutes. Cox proportional hazards regression analysis was used to estimate hazard ratios (HR) and 95% confidence intervals of incident HTN events according to exposure categories. During a mean follow-up of 19 yr, there were 503 incident HTN cases. Multivariable-adjusted (excluding CRF) HR of HTN in normotensive men comparing middle- and high-strength thirds to the lowest third were not significant at 1.17 and 0.84, respectively. Multivariable-adjusted (excluding CRF) HR of HTN in baseline prehypertensive men comparing middle- and high-strength thirds to the lowest third were significant at 0.73 and 0.72 (P = 0.01 each), respectively. The association between muscular strength and incidence of HTN in baseline prehypertensive men was no longer significant after control for CRF (P = 0.26). The study indicated that middle and high levels of muscular strength were associated with a reduced risk of HTN in prehypertensive men only. However, this relationship was no longer significant after controlling for CRF.

Antimyosin scintigraphy in patients with acquired and hereditary muscular disorders

Energy Technology Data Exchange (ETDEWEB)

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

1994-10-01

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

Rapidly worsening bulbar symptoms in a patient with spinobulbar muscular atrophy

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Montserrat Diaz-Abad

2013-12-01

Full Text Available X-linked spinobulbar muscular atrophy (Kennedy’s disease affects muscles and motor neurons, manifesting as weakness and wasting of bulbar, facial, and proximal limb muscles due to loss of anterior horn cells in the brain and spinal cord. We present the case of a patient with X-linked spinobulbar muscular atrophy with rapidly worsening bulbar symptoms caused by laryngopharyngeal irritation associated with a viral upper respiratory tract infection, seasonal allergies and laryngopharyngeal reflux, who dramatically improved with multimodality therapy.

Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy

Science.gov (United States)

McGreevy, Joe W.; Hakim, Chady H.; McIntosh, Mark A.; Duan, Dongsheng

2015-01-01

Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disorder. It is caused by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly promising therapeutic strategy is to replace or repair the defective dystrophin gene by gene therapy. Numerous animal models of DMD have been developed over the last 30 years, ranging from invertebrate to large mammalian models. mdx mice are the most commonly employed models in DMD research and have been used to lay the groundwork for DMD gene therapy. After ~30 years of development, the field has reached the stage at which the results in mdx mice can be validated and scaled-up in symptomatic large animals. The canine DMD (cDMD) model will be excellent for these studies. In this article, we review the animal models for DMD, the pros and cons of each model system, and the history and progress of preclinical DMD gene therapy research in the animal models. We also discuss the current and emerging challenges in this field and ways to address these challenges using animal models, in particular cDMD dogs. PMID:25740330

Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy.

Science.gov (United States)

McGreevy, Joe W; Hakim, Chady H; McIntosh, Mark A; Duan, Dongsheng

2015-03-01

Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disorder. It is caused by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly promising therapeutic strategy is to replace or repair the defective dystrophin gene by gene therapy. Numerous animal models of DMD have been developed over the last 30 years, ranging from invertebrate to large mammalian models. mdx mice are the most commonly employed models in DMD research and have been used to lay the groundwork for DMD gene therapy. After ~30 years of development, the field has reached the stage at which the results in mdx mice can be validated and scaled-up in symptomatic large animals. The canine DMD (cDMD) model will be excellent for these studies. In this article, we review the animal models for DMD, the pros and cons of each model system, and the history and progress of preclinical DMD gene therapy research in the animal models. We also discuss the current and emerging challenges in this field and ways to address these challenges using animal models, in particular cDMD dogs. © 2015. Published by The Company of Biologists Ltd.

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.

Nonmuscular involvement in merosin-negative congenital muscular dystrophy.

NARCIS (Netherlands)

Gilhuis, H.J.; Donkelaar, H.J. ten; Tanke, R.B.; Vingerhoets, D.M.; Zwarts, M.J.; Verrips, A.; Gabreëls, F.J.M.

2002-01-01

The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical, neuroradiologic, cardiac, and neurophysiologic studies were performed. Cerebral structures that were myelinated at gestation, including internal

Intra-muscular hemangioma: A review

Directory of Open Access Journals (Sweden)

Shruti Nayak

2014-01-01

Full Text Available Intra-muscular hemangiomas (IMH are relatively uncommon benign vascular tumors, which account for less than 1% of all hemangiomas. IMH may be presented as a perceived sporting injury. Diagnosis of this lesion is important not only because of its rarity, but also due to dangers posed by misdiagnosis and mismanagement. They must be considered in the differential diagnosis of unexplained pain and swelling in muscles. IMH occurring in the oral cavity is reviewed below.