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| http://dx.doi.org/10.4103/sjmms.sjmms_118_18 | DOI Listing |
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HLA Class I and II Alleles in Anti-Acetylcholine Receptor Antibodies Positive and Double-Seronegative Myasthenia Gravis Patients of Romanian Descent.
Neurol Int
December 2024
Department of Immunology, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iași, Romania.
: Several significant associations between certain Human Leukocyte Antigen (HLA) alleles and myasthenia gravis (MG) subtypes were established in populations from Western Europe and North America and, to a lesser extent, from China and Japan. However, such data are scarcely available for Eastern Europe. This study aimed to analyze the associations of HLA Class I and II alleles with MG and its serological subtypes (with anti-acetylcholine receptor autoantibodies, RAch+MG, and double-seronegative, dSNMG) in myasthenic patients of Romanian descent.
View Article and Find Full Text PDFA clinical perspective on muscle specific kinase antibody positive myasthenia gravis.
Front Immunol
December 2024
Department of Neurology, Medical University of Vienna, Vienna, Austria.
The discovery of autoantibodies directed against muscle-specific kinase (MuSK) in "seronegative" myasthenia gravis (MG) patients marked a milestone in MG research. In healthy muscle, MuSK regulates a phosphorylation pathway, which is essential for the development and maintenance of acetylcholine receptor (AChR) clusters at the neuromuscular junction. Autoantibodies directed against MuSK are predominantly of the IgG4 subclass, but there is increasing evidence that IgG1-3 could also contribute to the pathology underlying MuSK-MG.
View Article and Find Full Text PDF[Clinical and epidemiological characteristics of myasthenia in the Altai region].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Altai State Medical University, Barnaul, Russia.
Objective: To analyze the epidemiological and clinical characteristics of myasthenia gravis (MG) in the Altai region (AR).
Material And Methods: One hundred and twenty-two patients with a verified diagnosis of MG, living in the AR, took part in the study. To collect data, a questionnaire was developed, the data of which formed the basis for the study.
A Posterior Cranial Fossa Lesion Mimicking Myasthenia Gravis.
Eur J Case Rep Intern Med
November 2024
Khyber Medical College, Peshawar, Pakistan.
Unlabelled: A 41-year-old male with prior diagnosis of seronegative myasthenia gravis presented with complaints of bilateral ptosis, dysphagia, nasal voice and nasal regurgitation. Despite treatment with pyridostigmine, there was lack of significant improvement in the symptoms. Further investigations, including antibody assays and nerve conduction studies did not support the diagnosis.
View Article and Find Full Text PDFEfficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man.
Acta Myol
September 2024
Neuromuscular Unit, Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.
Introduction And Aims: We describe a case of long-living COLQ-related congenital myasthenic syndrome (CMS) benefitting from ephedrine with an overall improvement quantified with functional measures.
Results: A 71-year-old man was referred with limb-girdle/axial myopathy and fatigability since infancy. In his thirties, a decremental response was observed at 3Hz-nerve stimulation, although testing seronegative for anti-neuromuscular junction antibodies.
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