Search results for "myasthenia"

Comparative analysis of biochip mosaic-based indirect immunofluorescence with enzyme-linked immunosorbent assay for diagnosing myasthenia gravis

2021

Background: The detection of anti-acetylcholine receptor (AChR) and anti-muscle-specific tyrosine kinase (MuSK) antibodies is useful in myasthenia gravis (MG) diagnosis and management. BIOCHIP mosaic-based indirect immunofluorescence is a novel analytical method, which employs the simultaneous detection of anti-AChR and anti-MuSK antibodies in a single miniature incubation field. In this study, we compare, for the first time, the BIOCHIP MG mosaic with conventional enzyme-linked immunosorbent assay (ELISA) in the diagnosis of MG. Methods: A total of 71 patients with MG diagnosis were included in the study. Anti-AChR and anti-MuSK antibodies were measured separately by two different ELISA an…

The Molecular Anatomy of Human Hsp60 and its Similarity with that of Bacterial Orthologs and Acetylcholine Receptor Reveal a Potential Pathogenetic R…

2012

Heat-shock protein 60 (Hsp60) is ubiquitous and highly conserved being present in eukaryotes and prokaryotes, including pathogens. This chaperonin, although typically a mitochondrial protein, can also be found in other intracellular sites, extracellularly, and in circulation. Thus, it can signal the immune system and participate in the development of inflammation and immune reactions. Both phenomena can be elicited by human and foreign Hsp60 (e.g., bacterial GroEL), when released into the blood by infectious agents. Consequently, all these Hsp60 proteins become part of a complex autoimmune response characterized by multiple cross reactions because of their structural similarities. In this s…

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε-acetylcholine receptor subunit mutation

2000

Recently, a congenital myasthenic syndrome (CMS) with end-plate acetylcholine receptor (AChR) deficiency due to missense mutations in the genes for the AChR subunit was described. The first observed patient with this CMS was heteroallelic for the two epsilon-AChR subunit mutations epsilon1101insT and epsilon1293insG. This patient had only a moderate phenotype with mild muscle weakness and abnormal fatigue. We have now found homozygosity for the epsilon1293insG mutation in a severely affected CMS patient, who lost the ability to walk in midchildhood and shows profound weakness and muscle wasting. Our observation allows a genotype-phenotype correlation illustrating how differences in the AChR…

METHOTREXATE AS STEROID SPARING AGENT IN MYASTHENIA GRAVIS: A RETROSPECTIVE STUDY IN A SMALL COHORT OF PATIENTS

Introduction Myasthenia gravis (MG) is an autoimmune disorder of neuromuscular junction. Therapy for MG is still debated and controversial: corticosteroids alone or in combination with immunosuppressive agents are the most used drugs. Azathioprine (AZA) has been shown to be effective for MG in randomized placebo-controlled studies with a significant steroid-sparing activity after 15 months administration although several side effects1. Recently, some studies on Methotrexate (MTX) activity in MG have evidenced controversial results on efficacy, tolerability and steroid-sparing activity. Patients and Methods We have retrospectively evaluated in our MG cohort of (over 850 pts), a number of pat…

The role of serum free light chain as biomarker of Myasthenia Gravis

2022

Background and aim: Myasthenia gravis (MG) is a B lymphocyte–mediated disease affecting neuromuscular transmission. The clinical course of MG is unpredictable due to the fluctuating nature and heterogeneity of the disease. Increased levels of free light chains (FLC), which reflect B cell activation, have been detected in different autoimmune disorders. In this study, we evaluated the potential role of FLC as diagnostic and prognostic biomarkers of MG. Materials and methods: 74 MG patients and 52 healthy individuals were included in the study. Serum FLC levels were measured by turbidimetric assay (Freelite, The Binding Site Group Ltd) on the Optilite Analyser System in both groups. In MG pat…

Corrigendum to “Hsp60 and AChR cross-reactivity in myasthenia gravis: An update.” [J. Neurol. Sci. 292 (2010) 117–118]

2012

Corrigendum to “Hsp60 and AChR cross-reactivity in myasthenia gravis: An update.” [J. Neurol. Sci. 292 (2010) 117–118] Francesco Cappello ⁎, Antonella Marino Gammazza, Leila Zummo, Everly Conway de Macario, Alberto J.L. Macario a Department of Experimental Biomedicine and Clinical Neurosciences, University of Palermo, Via del Vespro 129, 90127, Palermo, Italy b University of Maryland, IMET, 701 East Pratt Street, 21202, Baltimore, MD, USA

How specific are the pontine MRI hyperintensities (the cross sign)?

2003

Rituximab in AChR subtype of myasthenia gravis: systematic review

2020

Myasthenia gravis (MG) is a chronic autoimmune disorder of the neuromuscular junction characterised by an autoantibody against acetylcholine receptor (AChR-Ab), autoantibody against muscle-specific kinase (MuSK-Ab), lipoprotein-related protein 4 or agrin in the postsynaptic membrane at the neuromuscular junction. Many patients are resistant to conventional treatment and effective therapies are needed. Rituximab (RTX) is a monoclonal antibody directed against CD20 antigen on B cells which has been successfully employed in anti-MuSK-Ab+MG, but the efficacy in anti-AChR-Ab+MG is still debated. The purpose of this systematic review was to describe the best evidence for RTX in the acetylcholine …

Neurofilament is an autoantigenic determinant in myasthenia gravis

1999

Intratumorous expression of a 153-kd protein (p153), which contains an acetylcholine receptor-like epitope, is the only tumor marker described to date that significantly associates with thymoma in paraneoplastic myasthenia gravis (MG). Here, we report that p153 is identical to the midsize neurofilament, as verified by immunohistochemistry, immunofluorescence, and western blot analysis. Furthermore, the acetylcholine receptor-like epitope of the midsize neurofilament (NF-M) was identified by peptide epitope mapping. We also show, using T-cell proliferation assays, a significantly increased response of intratumorous T cells to a recombinant midsize neurofilament fragment in thymoma patients w…

Thymus pathology observed in the MGTX trial

2012

The MGTX trial is the first prospective, randomized clinical trial that aims to evaluate the impact of extended transsternal thymectomy on myasthenic symptoms, prednisone requirements, and quality of life in patients with nonthymomatous, anti-acetylcholine receptor autoantibody-positive myasthenia gravis (MG). Here, we give an overview of the rationale of thymectomy and the standardized macroscopic and histopathological work-up of thymectomy specimens as fixed in MGTX standard operating procedures, including the grading of thymic lymphofollicular hyperplasia and the morphometric strategy to assess thymic involution.