Valvular involvement in ANCA-associated systemic vasculitis: a case report and literature review.

Background: Antineutrophil cytoplasmic antibodies (ANCA)-associated systemic vasculitides have a variety of presentations, but cardiac valvular involvement is rarely diagnosed and its management is not established.

Case Presentation: We report the case of a 44 year old man who presented with an ANCA-associated systemic vasculitis and aortic regurgitation of unusual mechanism. Transthoracic and transesophageal echocardiography disclosed septal hypertrophy preventing a complete closure of the aortic valve and thus responsible for a massive aortic regurgitation.

[Electrophysiologic study of 10 cases of Miller Fisher syndrome].

The association of ophthalmoplegia, ataxia and areflexia was described by Miller Fisher in 1956. It is postulated as a variant of the Guillain Barré syndrome. We report 10 Miller Fisher syndrome patients admitted in an intensive care unit between June 1990 and February 1999 who were selected according to clinical criteria of Ropper and Wijdicks.

The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation.

Familial amyloid polyneuropathy (FAP) associated with mutations of the transthyretin (TTR) gene is the most common type of FAP, a devastating disease causing death within 10 years after the first symptoms. Because most of the amyloidogenic mutated TTR is secreted by the liver, transplantation is widely used to treat these patients, but long-term quantitative evaluation of the effects of liver transplantation on the progression of the neuropathy are not available. We have treated 45 patients with symptomatic TTR-FAP, including 43 with the Met30 TTR gene mutation, and report on the results of periodic evaluation of markers of neuropathy in 25 of them, who have been followed for more than 2 years after liver transplantation (mean follow-up 4 years).

[Importance of neuromuscular "jitter" under stimulation in the diagnosis of myasthenia gravis].

Ninety five patients with global muscular weakness or purely extraocular weakness were included in a retrospective study. Electrical micro stimulation and single fiber electromyography were performed in all, for neuromuscular jitter evaluation in myasthenia gravis diagnosis. In our study, increased jitter was more often present (70% of generalised myasthenia gravis and 57% of ocular myasthenia gravis) than decrement after repetitive nerve stimulations (58% of generalised myasthenia gravis and 14% of ocular myasthenia gravis).