Results 11 to 20 of about 21,108 (162)

Atualização do tratamento fisioterapêutico das distrofias musculares de Duchenne e de Becker - doi:10.5020/18061230.2005.p41

Revista Brasileira em Promoção da Saúde, 2012
As distrofias musculares de Duchenne (DMD) e de Becker (DMB) consistem em distúrbios neuromusculares genéticos de herança autossômica recessiva, ligados ao cromossomo X, incuráveis e progressivos.
Simone Rizzo Nique da Silva, Sílvia Lemos Fagundes   +1 more
doaj   +2 more sources

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

Arquivos de Neuro-Psiquiatria, 2005
The limb-girdle muscle dystrophy (LGMD) represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation.
Enio Alberto Comerlato, Rosana Hermínia Scola, Lineu César Werneck   +2 more
doaj   +2 more sources

Perfil clínico y electromiográfico de las distrofias musculares en República Domincana

Ciencia y Salud
Introducción: Las distrofias musculares son trastornos miogénicos hereditarios caracterizados por una atrofia muscular progresiva y una debilidad de distribución y gravedad variable. La población de Republica Dominicana es fruto de una mezcla de etnias,
Freddy De León Roa, Yaneris Cesarina Polanco Melo, Demian Herrera, Andreina Moreno Reyes   +3 more
doaj   +2 more sources

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

Arquivos de Neuro-Psiquiatria, 1967
Depois de apresentar os dados clínicos e genéticos relativos a 221 casos de distrofia muscular progressiva (125 casos do tipo Duchenne, 63 do tipo cintura pélvica e 25 do tipo fácio-escápulo-umeral), os autores analisam os resultados das dosagens sôro ...
H. Heick, G. Laudahn
doaj   +1 more source

Caracterización clínica y genética de las distrofias musculares: en busca de nuevos fenotipos [PDF]

[spa] Las distrofias musculares son un grupo heterogéneo de enfermedades genéticas que afectan la estabilidad y/o reparación del sarcolema, la membrana de las fibras musculares.
Osorio, Andrés Eduardo Nascimento
core   +6 more sources

Estudios fisiopatológicos en distrofias musculares : biomarcadores pronósticos y aproximaciones terapéuticas [PDF]

, 2020
Premi Extraordinari de Doctorat concedit pels programes de doctorat de la UAB per curs acadèmic 2019-2020Les distròfies musculars son malalties hereditàries caracteritzades per una degeneració progressiva de les fibres musculars que produeixen la ...
Diaz-Manera, Jordi, Fernández Simón, Esther   +1 more
core   +2 more sources

Evidence of Insulin Resistance and Other Metabolic Alterations in Boys with Duchenne or Becker Muscular Dystrophy

International Journal of Endocrinology, Volume 2015, Issue 1, 2015., 2015
Aim. Our aim was (1) to determine the frequency of insulin resistance (IR) in patients with Duchenne/Becker muscular dystrophy (DMD/BMD), (2) to identify deleted exons of DMD gene associated with obesity and IR, and (3) to explore some likely molecular mechanisms leading to IR. Materials and Methods.
Maricela Rodríguez-Cruz, Raúl Sanchez, Rosa E. Escobar, Oriana del Rocío Cruz-Guzmán, Mardia López-Alarcón, Mariela Bernabe García, Ramón Coral-Vázquez, Guadalupe Matute, Ana Claudia Velázquez Wong, Nikolaos Papanas   +9 more
wiley   +1 more source

Systemic Inflammation in Duchenne Muscular Dystrophy: Association with Muscle Function and Nutritional Status

BioMed Research International, Volume 2015, Issue 1, 2015., 2015
Inflammation described in patients with Duchenne muscular dystrophy (DMD) may be related to loss of muscle function or to obesity. It is unknown if circulating proinflammatory cytokines (IL‐6, IL‐1, and TNF‐α) levels are associated with muscle function.
Oriana del Rocío Cruz-Guzmán, Maricela Rodríguez-Cruz, Rosa Elena Escobar Cedillo, Akanchha Kesari   +3 more
wiley   +1 more source

Body Composition, Muscle Strength, and Physical Function of Patients with Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

The Scientific World Journal, Volume 2013, Issue 1, 2013., 2013
Objective. To determine the contributions of body mass, adiposity, and muscularity to physical function and muscle strength in adult patients with Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). Materials and Methods. Evaluation involved one UCMD and 7 BM patients.
Maria Teresa Miscione, Francesca Bruno, Claudio Ripamonti, Giuliana Nervuti, Riccardo Orsini, Cesare Faldini, Massimo Pellegrini, Daniela Cocchi, Luciano Merlini, Y. K. Hayashi, G. Onder, L. Scorrano, H. Topaloglu   +12 more
wiley   +1 more source

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