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1.
Brain ; 129(Pt 6): 1463-9, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16585051

RESUMO

Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy characterized by abnormal centrally located nuclei in a large number of muscle fibres. Recently, different missense mutations affecting the middle domain of the dynamin 2 (DNM2) have been shown to cause autosomal dominant CNM. In order to better define the phenotype of DNM2-related CNM, we report here on the clinical and muscle imaging findings of 10 patients harbouring DNM2 mutations. DNM2-CNM is characterized by slowly progressive muscular weakness usually beginning in adolescence or early adulthood. In addition to bilateral ptosis, our data show that distal muscle weakness often exceeds proximal involvement. Furthermore, electrophysiological investigations frequently demonstrated signs of mild axonal peripheral nerve involvement, and electromyographical examination may show neuropathic changes in addition to the predominant myopathic changes. These features overlap with findings seen in the phenotype of DNM2-related autosomal dominant Charcot-Marie-Tooth disease type 2B. In all 10 DNM2-CNM patients, muscle computer tomography assessment showed a consistent pattern of muscular involvement and a characteristic temporal course with early and predominant distal muscle involvement, and later affection of the posterior thigh compartment and gluteus minimus muscles. The recognition of this specific imaging pattern of muscle involvement--distinct to the reported patterns in other congenital myopathies--may enable a better selection for direct genetic testing.


Assuntos
Dinamina II/genética , Miopatias Congênitas Estruturais/genética , Adolescente , Adulto , Idoso , Biópsia , Criança , Humanos , Pessoa de Meia-Idade , Debilidade Muscular/diagnóstico por imagem , Debilidade Muscular/genética , Debilidade Muscular/patologia , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Mutação de Sentido Incorreto , Miopatias Congênitas Estruturais/diagnóstico por imagem , Miopatias Congênitas Estruturais/patologia , Miopatias Congênitas Estruturais/fisiopatologia , Fenótipo , Tomografia Computadorizada por Raios X
2.
Neuroradiology ; 47(6): 438-45, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15906022

RESUMO

Our purpose was to evaluate the postoperative aneurysm occlusion volume and clinical results of treating unruptured intracranial aneurysm using three-dimensional (3D) coils. Over a 2-year period 62 aneurysms (39 with a neck < or =4 mm, 23 with a neck >4 mm) in 62 patients in five participating centres were treated. The procedure consisted, firstly, of framing the aneurysm with one or more spherical 3D coils, and secondly, of filling it with two-dimensional (2D) helical coils. Anatomical and clinical results were evaluated by univariate analysis. Multivariate analysis was used to identify independent predictors of these results. For neck sizes < or =4 and >4 mm, angiographic occlusion was complete in 31 (79%) and 16 (70%) aneurysms, respectively; the mean percentage of occlusion volume was 31.4% and 29.5%, respectively, and postoperative morbidity was 3% and 4%, respectively, with no significant differences between the two groups. There were no deaths. However, occlusion volume correlated with sac size (P = 0.037) and sac-to-neck ratio <1.5 (P = 0.073), except when three or more 3D coils per aneurysm were used (P = 0.516 and P = 0.308, respectively). Occlusion volume correlated with the number of 3D coils per aneurysm (P < 0.001) and was an independent predictor of angiographic complete occlusion (P = 0.002). The use of the largest number of 3D coils per aneurysm was safe and may improve the postoperative volume and angiographic occlusion of aneurysms with a neck >4 mm, provided the sac-to-neck ratio is > or =1.5.


Assuntos
Embolização Terapêutica/instrumentação , Aneurisma Intracraniano/terapia , Adulto , Idoso , Angiografia Digital , Embolização Terapêutica/efeitos adversos , Desenho de Equipamento , Estudos de Viabilidade , Feminino , Humanos , Imageamento Tridimensional , Aneurisma Intracraniano/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
3.
Rev Esp Cardiol ; 58(4): 443-6, 2005 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-15847739

RESUMO

The mitochondrial cytopathies or oxidative-phosphorylation diseases are a diverse group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria. Because mitochondrial dysfunction can affect the most highly energy-dependent organs, cardiac involvement is frequent in these diseases. To identify the clinical features of Kearns-Sayre syndrome, an entity associated with this group of diseases, we evaluated cardiac structure and function in 5 patients with Kearns-Sayre syndrome and followed the clinical course of these patients for 5 years.


Assuntos
Cardiopatias/etiologia , Síndrome de Kearns-Sayre/complicações , Adulto , Feminino , Humanos , Síndrome de Kearns-Sayre/diagnóstico , Masculino
4.
Rev. esp. cardiol. (Ed. impr.) ; 58(4): 443-446, abr. 2005. ilus, tab
Artigo em Es | IBECS | ID: ibc-037194

RESUMO

Las citopatías mitocondriales o enfermedades de las fosforilación oxidativa constituyen un diverso grupo de enfermedades cuya etiología subyace en trastornos estructurales, bioquímicos o genéticos de la mitocondria. Dado que una disfunción mitocondrial afecta a los órganos con mayores requerimientos energéticos, la afección cardíaca es frecuente en estos trastornos. Con el fin de determinar las características clínicas de la involucración cardíaca en el síndrome de Kearns-Sayre, entidad asociada a este grupo de enfermedades, hemos estudiado la estructura y la función cardíacas en una serie de 5 casos que, además, han sido seguidos durante 5 años


The mitochondrial cytopathies or oxidative-phosphorylation diseases are a diverse group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria. Because mitochondrial dysfunction can affect the most highly energy-dependent organs, cardiac involvement is frequent in these diseases. To identify the clinical features of Kearns-Sayre syndrome, an entity associated with this group of diseases, we evaluated cardiac structure and function in 5 patients with Kearns-Sayre syndrome and followed the clinical course of these patients for 5 years


Assuntos
Eletrocardiografia Ambulatorial , Técnicas Eletrofisiológicas Cardíacas , Seguimentos , Síndrome de Kearns-Sayre , Ecocardiografia
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