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A case of 'central deafness' is presented in a 3-year-old male Caucasian child with Moyamoya disease (MMD); a rare, progressive and occlusive cerebrovascular disorder predominantly affecting the carotid artery system. Documentation of normal peripheral auditory function and brainstem pathway integrity is provided by acoustic admittance, otoacoustic emission(More)
We identified a G-->A transition at nt-8363 in the mitochondrial DNA transfer ribonucleic acidLys gene in blood and muscle from a 13-month-old girl who had clinical and neuroradiologic evidence of Leigh syndrome and died at age 27 months. The mutation was less abundant in the same tissues from the patient's mother, who developed myoclonus epilepsy with(More)
We report a family with an X-linked recessive disorder characterized by muscle cramps and myalgia. Nine affected male family members had high resting serum levels of creatine kinase, and well-developed musculature with calf hypertrophy but no evidence of muscular weakness. Symptoms began in childhood and did not progress. Electromyographic findings were(More)
OBJECTIVE B cell targeted therapies have been effective in slowing multiple sclerosis (MS) disease progression suggesting a direct causal link for this lymphoid subset. A small subset of B cells with regulative properties (Bregs) exists in peripheral blood, and induction of Bregs ameliorates experimental autoimmune encephalomyelitis (EAE), the murine model(More)
OBJECTIVE To assess the safety, tolerability, and preliminary efficacy of NP001, a novel immune regulator of inflammatory monocytes/macrophages, for slowing progression of amyotrophic lateral sclerosis (ALS). METHODS This was a phase 2 randomized, double-blind, placebo-controlled trial of NP001 in 136 patients with ALS of <3 years' duration and forced(More)
Myasthenia gravis developed in a 51-year-old woman in 1956; she was found to have a thymoma. Complete remission of the myasthenia gravis occurred within 18 months of thymomectomy. In 1975, myasthenia gravis recurred in association with recurrence of the thymoma. Remission of the myasthenic state once more followed the thymomectomy. The asymptomatic period(More)
BACKGROUND This retrospective analysis explored prognostic factors associated with a benign multiple sclerosis (BMS) disease course at baseline and over the 4-year follow-up. METHODS Patients from the centralized New York State Multiple Sclerosis Consortium registry were classified as having BMS according to 3 different criteria centered on disease(More)
This is the first description of a patient with both polymyositis and Waldenström hyperglobulinemic purpura. There was evidence of circulating immune complexes, and immune deposits were found in dermal and muscular vessels. Similar electron-dense deposits were seen ultrastructurally in the basement membrane of both normal and abnormal microvasculature. The(More)
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