Results 11 to 20 of about 9,864 (209)

Distrofias musculares congénitas

open access: yesRevista Médica Clínica Las Condes, 2018
Resumen: Las distrofias musculares congénitas (DMC) son enfermedades musculares hereditarias muy heterogéneas. Su diagnóstico se basa en criterios histológicos (signos distróficos en músculo) y clínicos (de inicio neonatal o durante la infancia precoz, antes de adquirir la marcha).
Susana Quijano-Roy, MD, PhD   +1 more
openaire   +2 more sources

Neostigmina en el tratamiento de la Distrofia Muscular Progresiva: Estudio de 6 pacientes, 4 con seguimiento de 13 años

open access: yesRevista Clínica de la Escuela de Medicina UCR-HSJD, 2018
Estudio realizado durante 13 años, en seis pacientes con distrofia muscular. Dos de ellos asociados con neuropatía y cuatro con nervios sanos. El objetivo de la investigación es demostrar el uso de la neostigmina en el tratamiento de la distrofia ...
Martín Álvarez Rojas   +2 more
doaj   +1 more source

Distrofia muscular congênita estudo histoquímico do músculo esquelético de 17 pacientes

open access: yesArquivos de Neuro-Psiquiatria, 1991
Foram individualizados 17 pacientes com distrofia muscular congênita (DMC) por critérios clínico-laboratoriais e biópsia muscular com estudo histoquímico do músculo deltóide superficial.
Acary S. B. Oliveira   +5 more
doaj   +1 more source

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

open access: yesInternational 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   +9 more
wiley   +1 more source

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

open access: yesBioMed 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   +3 more
wiley   +1 more source

Cytokines in Emery-Dreifuss muscular dystrophy: Possible pathogenetic markers and targets for treatment of disease [PDF]

open access: yes, 2015
La distrofia muscolare di Emery-Dreifuss (EDMD) è una miopatia degenerativa ereditaria caratterizzata da debolezza e atrofia dei muscoli senza coinvolgimento del sistema nervoso.
Prencipe, Sabino <1985>
core   +1 more source

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

open access: yesThe 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   +12 more
wiley   +1 more source

O retardo mental na distrofia muscular de Duchenne

open access: yesJornal de Pediatria, 2012
OBJETIVO: Fazer um levantamento da literatura médica destinada ao estudo das disfunções cognitivas nos pacientes com distrofia muscular de Duchenne, através da descrição dos marcos do desenvolvimento neuropsicomotor e dos testes psicométricos para ...
Flávia Nardes   +2 more
doaj   +1 more source

Motor function evaluation in merosin-deficient congenital muscular dystrophy children [PDF]

open access: yes, 2005
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
Beteta, Javier Toledano   +6 more
core   +3 more sources

Distrofia muscular de duchenne: análisis electrocardiográfica de 131 pacientes [PDF]

open access: yes, 2010
BACKGROUND: Cardiac involvement is known to occur in patients with Duchenne muscular dystrophy (DMD). The electrocardiogram (ECG) shows some typical changes in DMD, which makes it a useful test for the diagnosis of cardiac lesion in this disease ...
Bombig, Maria Teresa Nogueira   +9 more
core   +3 more sources

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