Results 21 to 30 of about 9,979 (208)

Distrofia muscular oculofaríngea: Tratamiento quirúrgico [PDF]

Revista chilena de cirugía, 2009
Surgical treatment of oculopharyngeal muscular dystrophy. Report of two cases Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy that is characterized by ocular and pharyngeal muscle involvement. OPMD typically presents with ptosis, dysarthria, and dysphagia. It can also be associated with proximal and distal extremity weakness. We report two
DÍAZ DE LIAÑO A, ALVARO, FERNÁNDEZ R, LORANS, YÁRNOZ I, CONCEPCIÓN, ARTIEDA S, CRISTINA, GONZÁLEZ A, GREGORIO, ARTAJONA R, ALICIA, ORTIZ H, HÉCTOR   +6 more
openaire   +2 more sources

Distrofia muscular de Duchenne: avaliação da qualidade de vida em 95 pacientes através do Life Satisfaction Index for Adolescents [PDF]

, 2011
The purpose of this study was to evaluate the quality of life (QoL) of patients with Duchenne muscular dystrophy (DMD) in different stages of the disease, by means of the Life Satisfaction Index for Adolescents (LSI-A). The practicality of this scale was
REED, Umbertina Conti, RESENDE, Maria Bernardete Dutra, SIMON, Margarete A.V.P., SIMON, Valdecir A., ZANOTELI, Edmar   +4 more
core   +2 more sources

Distrofia muscular de Duchenne em menina com translocação cromossômica

Arquivos de Neuro-Psiquiatria, 1988
Relato do caso de menina que apresentava clínica e laboratorialmente elementos para o diagnóstico de distrofia muscular progressiva pseudo-hipertrófica de Duchenne, cuja investigação genética revelou translocação cromos&ômica 46,X,t(Bp+, Xq-).
Lineu Cesar Werneck, Silvia M. L. Lemos, Neiva Magdalena   +2 more
doaj   +1 more source

Aquatic influence on mobility of a child with duchenne muscular dystrophy : case study [PDF]

, 2016
The study was initiated because one of the authors had a child in the family with Duchenne muscular dystrophy (DMD). The author was concerned about what could be done to improve the quality of life of this child.
Batista, Marco, Faustino, António, Honório, Samuel, Martins, Júlio, Mendes, Pedro, Mesquita, Helena, Paulo, Rui, Petrica, João, Santos, Jorge, Serrano, João   +9 more
core   +1 more source

Congenital muscular dystrophy: a clinical report on 17 patients [PDF]

, 1991
We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial ...
Ferreira Neto, A., Gabbai, Alberto Alain, Kiyomoto, Beatriz Hitomi, Lima, J. G. C., Oliveira, Acary Souza Bulle, Schmidt, Beny   +5 more
core   +1 more source

Abdominal and pelvic ultrasonography in healthy golden retriever dogs, carriers and affected by gradual muscular dystrophy [PDF]

A distrofia muscular de Duchenne (DMD) é um tipo de distrofia muscular em humanos caracterizada por uma doença genética ligada ao cromossomo X. O cão golden retriever portador da distrofia muscular (GRMD) tem sido intensamente estudado e considerado o ...
ALVES, Flávio Ribeiro, AMBRÓSIO, Carlos Eduardo, FADEL, Leandro, FEITOSA, Matheus Levi Tjara, GRANDO, Angélica Paula, KANAYAMA, Luciane Maria, MARIANA, Arani Nanci Bonfim, MARTINS, Daniele dos Santos, MIGLINO, Maria Angélica, MORINI, Adriana Caroprezo, SANTOS, Juliana Passos Alves dos, STERMAN, Franklin Almeida, ZATZ, Mayana   +12 more
core   +1 more source

From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease [PDF]

, 2014
McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity.
Andrea Beggs, Andreu AL, Andrew Wakelin, Borg G, Braakhekke JP, Charlotte Ellerton, Gurgel-Giannetti J, Haller RG, Janice L Holton, Jatin Pattni, Lucia A, Lucia A, Miteff F, Nadaj-Pakleza AA, Pearson C, Pernow BB, Quinlivan R, Renata Siciliani Scalco, Richard Godfrey, Ros Quinlivan, Sherryl Chatfield, Stefen Brady, Vieitez I, Vissing J   +23 more
core   +3 more sources

Tratamiento quirúrgico de ptosis palpebral miogénica adquirida [PDF]

, 2005
Objective: To report the surgical outcome of aponeurosis surgery in patients with acquired myogenic eyelid ptosis and describe surgical guidelines for their correction.
Becerra, E.M. (E. M.), Bianciotto, C. (C.), Blanco, G. (G.), Muiños, Y. (Y.)   +3 more
core   +1 more source

Distrofia muscular de Duchenne: reportes de caso

Revista Universitas Medica, 2017
La distrofia muscular de Duchenne es una enfermedad muscular grave ligada al cromosoma X que afecta el gen que codifica la distrofina, proteína fundamental para el mantenimiento de la fibra muscular.
Víctor Hugo Guapi Nauñay, Jorge Renán García Orbe   +1 more
doaj   +1 more source

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

Arquivos de Neuro-Psiquiatria, 1997
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 ...
Sandra Lopes Seixas, Jussara Lagrota-Cândido, Wilson Savino, Thereza Quirico-Santos   +3 more
doaj   +1 more source