Somatosensory evoked potentials in Hirayama disease: A Brazilian study.

BACKGROUND: Hirayama's disease (HD) is characterized by an insidious onset asymmetric weakness and atrophy of the forearm and hand. Taking as a premise, the etiopathogenesis of the disease is attributed to forward displacement of posterior wall of lower cervical dural canal in neck flexion causing marked compression and flattening of lower spinal cord. This may result in compression of the posterior column of the spinal cord and seems likely to result in somatosensory evoked potentials (SSEPs) abnormalities. In the present study, we studied the possible involvement of the lemniscal dorsal pathway in patients with HD. METHODS: SSEPs in upper and lower extremities were prospectively performed in eight patients with HD. All the patients were recruited from the outpatient clinic of a neuromuscular disorder center from South Brazil. SSEPs were obtained by transcutaneous electrical stimulation of the median and posterior tibial nerves, on both sides. We collected the amplitude and the latency of the different components obtained in each channel. The interpretation was based on Brazilian study standards. RESULTS: We evaluated seven men and one woman (mean age 27). The data obtained were compared to a control group consisting of eight patients with spondylotic cervical myelopathy, 6 men and 2 women with mean age of 59 years. The measurements of obtained by the SSEP were also compared between the groups and no significant difference was found for any of them. CONCLUSION: SSEP did not turn out to be an electrophysiological marker in our HD patients.

Duchenne muscular dystrophy: an historical treatment review.

In this review, we discuss the therapies used in the treatment of patients with Duchenne muscular dystrophy since the first description of the disease. A short description is given of the various theories based on disease pathogenesis, which give the substrates for the many therapeutic interventions. A brief review of the methods of evaluation used in therapeutic trials is made. Of all the treatments, the only drugs that are still considered able to modify the course of the disease are the corticosteroids (prednisone/prednisolone/deflazacort). Other drugs (coenzyme Q10 and creatine) have had a little effect in a few functions without adverse reactions. Idebenone seems to improve the respiratory function in the long term. The trials with mRNA transcription, through nonsense mutations or exon 51 skipping, show some beneficial results in a few functional tests, but they are limited to a small set of DMD patients.

Duchenne muscular dystrophy: an historical treatment review / Distrofia muscular de Duchenne: revisão histórica do tratamento

ABSTRACT In this review, we discuss the therapies used in the treatment of patients with Duchenne muscular dystrophy since the first description of the disease. A short description is given of the various theories based on disease pathogenesis, which give the substrates for the many therapeutic interventions. A brief review of the methods of evaluation used in therapeutic trials is made. Of all the treatments, the only drugs that are still considered able to modify the course of the disease are the corticosteroids (prednisone/prednisolone/deflazacort). Other drugs (coenzyme Q10 and creatine) have had a little effect in a few functions without adverse reactions. Idebenone seems to improve the respiratory function in the long term. The trials with mRNA transcription, through nonsense mutations or exon 51 skipping, show some beneficial results in a few functional tests, but they are limited to a small set of DMD patients.

RESUMO Nesta revisão são discutidas as terapêuticas empregadas no tratamento da distrofia muscular de Duchenne desde a descrição da doença. Apresentamos as diversas teorias que fundamentaram as intervenções terapêuticas, com uma breve descrição dos tipos de avaliação empregados nos ensaios terapêuticos. Dentre todos os tratamentos, a única medicação que até agora modificou o curso da doença foram os corticosteroides (prednisona/prednisolona/deflazacort). A coenzima Q10 e creatina tiveram algum efeito pequeno em algumas funções e evolução da doença sem efeitos colaterais. O idebenone mostrou efeito benéfico na função respiratória em longo prazo. As tentativas de intervir no gene da distrofina utilizando técnicas de transcrição do mRNA através das mutações sem sentido e técnicas que pulam o exon 51 mostram resultado muito discreto em algumas provas funcionais e limitado a uma parcela pequena de casos.

[Benign intercostal nerve schwannoma simulating pulmonary neoplasm: case report]. / Schwannoma benigno do nervo intercostal simulando neoplastia de pulmão: relato de caso.

A 37 years-old white man, smoker, was interned for having dry cough and pain in the left hemithorax (HE). The exam has show diminished vesicle mumble in the medium third part of the HE. The thorax computer tomography showed expansive nodular lesion of the 7 degrees coster arch projecting within the HE, with density of the bulk part and discreet enhance by the contrast. Imuno-histochemistry was compatible to benign schwannoma. We consider the intercostal benign schwannoma diagnosis must be taken before all the posterior or lateral intrathoracic mass that follows with small syntomathology and absence of clinical manifestation of malignity.

Schwannoma benigno do nervo intercostal simulando neoplastia de pulmão: relato de caso / Benign intercostal nerve schwannoma simulating pulmonary neoplasm: case report

Homem de 37 anos, branco, tabagista, foi internado com tosse seca e dor no hemitórax esquerdo (HE). Ao exame, macicez e murmúrio vesicular diminuído no terço médio do HE. A tomografia axial computadorizada de tórax revelou lesão expansiva nodular do 7º arco costal, projetando-se para o interior do HE, com densidade de parte mole e discreto realce pelo contraste. A histologia e a imuno-histoquímica foram compatíveis com schwannoma benigno. Consideramos que o diagnóstico de schwannoma benigno intercostal deve ser aventado ante toda massa intratorácica posterior ou lateral que curse com escassa sintomatologia e ausência de manifestações clínicas de malignidade.