نتایج جستجو برای: congenital myasthenia
تعداد نتایج: 126576 فیلتر نتایج به سال:
Mitogen-induced blastoid transformation of peripheral blood lymphocytes from patients with myasthenia gravis was studied using a microplate culture technique and evaluated with 3H-thymidine incorporation. It was found that both phytohaemagglutinin and pokeweed mitogen responses decreased significantly in patients with myasthenia gravis. In myasthenic crisis, indices of stimulation by phytohaema...
The nicotinic acetylcholine receptor (AChR) is a large membrane protein found in muscle cells. It is involved in the transformation of acetylcholine packets into a membrane depolarization, which thereby leads to a muscle twitch. This large, complex molecule is the target of the autoimmune attack in myasthenia gravis, and much has been learned in the past decade about myasthenia by the induction...
Background. Previous reports describe ethnicity based differences in clinical and laboratory features between Caucasians and African Americans with myasthenia gravis. However, it is not known whether these findings apply to other ethnicities. Methods. Retrospective analysis of all patients treated for myasthenia gravis during a three-year period at a community based medical center. Results. A t...
Consecutive patients (n = 114), who had single fiber electromyography of the frontalis muscles for symptoms suggestive of ocular myasthenia gravis, were followed up for a mean of 14 months (3-64 mos). At follow up, based on strict criteria, 23 patients were classified as having ocular myasthenia gravis, 8 patients were diagnosed as having mitochondrial myopathy or oculopharyngeal dystrophy, 18 ...
BACKGROUND Myasthenia gravis is an autoimmune disorder of neuromuscular junction characterized by skeletal muscle weakness and fatigability. Different genes may control the induction and clinical presentation of this disease. Various HLA alleles are reported as predisposing or protective genetic elements in myasthenia gravis. OBJECTIVE The aim of this study was to investigate the probable ass...
The association of myasthenia gravis and periodic paralysis in thyrotoxicosis has not been reported before. We describe a Chinese man with thyrotoxicosis and myasthenia gravis, who subsequently developed periodic paralysis. The possible aetiological links are discussed.
This article responds to:Healthcare resource utilization by patients with treatment-refractory myasthenia gravis in England
There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome, malignant hyperthermia and myasthenia. Neuronal disorders, e.g., epilepsy, episodic ataxia, famili...
All disorders of neuromuscular transmission (NMT) may cause ventilatory failure, albeit rarely. Respiratory muscle weakness is occasionally the presenting feature of myasthenia gravis (MG), the Lambert-Eaton myasthenic syndrome (LEMS), hypermagnesemia and botulism. Chronic MG, congenital myasthenic syndromes and LEMS may be acutely exacerbated by various intercurrent conditions and by drugs whi...
BACKGROUND The syndrome of congenital myasthenia with episodic apnea (CMS-EA) was previously found to be due to mutations in the choline acetyltransferase gene (CHAT). OBJECTIVE To identify the mutations underlying CMS-EA in a Turkish multiplex family. DESIGN Direct sequencing of the CHAT gene. PATIENTS A consanguineous Turkish family with 2 siblings affected by muscular weakness and epis...
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