Search results for "Myasthenia"
showing 10 items of 56 documents
Myasthenia gravis associated with Charcot-Marie-Tooth neuropathy: report of a case
1992
We report the case of a 24 year old woman who developed myasthenia gravis in the course of a mild form of Charcot-Marie-Tooth neuropathy. We describe the clinical manifestations together with the neurophysiological, pathological, serological findings and response to therapy and discuss the unusual association in the light of the relevant literature. © 1992 Masson Italia Periodici S.r.l.
Sleep disordered breathing in medically stable patients with myasthenia gravis
2007
We investigate sleep and breathing in clinically stable myasthenia gravis (MG) patients and ask weather sleep disordered breathing (SDB) is causally linked with MG. Nineteen MG patients with a mean disease duration of 9.7 years underwent sleep studies in two consecutive nights. The primary outcome measure was the respiratory disturbance index (RDI) in terms of snoring and apneas/hypopneas. Further outcome measurements were total sleep time, sleep stage distribution and the number of arousals. A clinically relevant SDB in terms of obstructive sleep apnea (OSA) (defined as RDI > 10/h) was found in four patients. There were only a few central apneas (central apnea index: 0.19 +/- 0.4/h). We di…
Immunological Aspects of Von Hippel-Lindau Disease: A Focus on Neuro-Oncology and Myasthenia Gravis
2022
Von Hippel-Lindau (VHL) disease is an autosomal dominant condition that predisposes affected individuals to a variety of malignant and benign neoplasms. The pathogenetic turning point of this illness is the accumulation of hypoxia-inducible factor (HIF)-1α, a transcription factor of several genes involved in oncogenesis, angiogenesis, tissue regeneration, metabolic regulation, hematopoiesis, and inflammatory responses. From an oncological perspective, increased awareness of the molecular pathways underlying this disease is bringing us closer to the development of specific and targeted therapies. Meanwhile, on the surgical side, improved understanding can help to better identify the patients…
Low Levels of Acetylcholine Receptor Delta-Subunit Message and Protein in Human Thymus Suggests the Occurrence of ‘Triplet Receptors’ in Thymic Myoid…
2000
Myasthenia gravis (MG) is an autoimmune disease caused by autoantibodies against the acetylcholine receptor (AChR) at the neuromuscular junction [1]. The muscular AChR has been extensively characterized [2], but whether the muscular AChR plays a role during the initiation of MG is unknown [3]. The muscular AChR is a pentameric ion channel composed of 4 different subunits [2, 4]. The fetal AChR expressed during intrauterine life and after denervation of adult muscle exhibits an α2βδγ composition, while the adult AChR expressed after birth in innervated muscle exhibits an α2βδγ composition [4]. The α-subunit contains the main epitopes recognized by MG autoantibodies [2]. The human muscle AChR…
Alternatively spliced transcripts of the thymus-specific protease PRSS16 are differentially expressed in human thymus.
2004
The putative serine protease PRSS16 is abundantly expressed in the thymic cortex and the gene is encoded within the HLA I complex. Although its function is not yet defined, the very restricted expression points to a role in T-cell development in the thymus. In this study, we show that the PRSS16 mRNA is alternatively spliced to generate at least five transcripts. Apart from the full-length sequence, we found two other isoforms with all putative active site residues of the serine protease, suggesting that those variants may also be functional. Semi-quantitative analysis of the splice variants in different tissue samples revealed a strong correlation between the specific formation of alternat…
Expression of the Acetylcholine Receptor α-Subunit Gene is Associated with Paraneoplastic Myasthenia Gravis in Mixed Thymoma
2000
Myasthenia gravis (MG) is an autoimmune disease caused by autoantibodies against the acetylcholine receptor (AChR) at the neuromuscular junction [1]. The muscular AChR has been extensively characterized [2], but the etiology of MG is still obscure. Whether the muscular AChR or another (auto)antigen plays a role during the initiation of MG is unknown [3]. The muscular AChR is a pentameric ion channel composed of four different subunits. The α-subunit contains the acetylcholine binding site and the main epitopes recognized by MG autoantibodies [2]. The human muscle AChR α-subunit exists as two isoforms, P3A- and P3A+ [4]. This is a result of alternative splicing of the P3A exon located betwee…
Late-onset myasthenia gravis - CTLA4(low) genotype association and low-for-age thymic output of naïve T cells.
2014
Abstract Late-onset myasthenia gravis (LOMG) has become the largest MG subgroup, but the underlying pathogenetic mechanisms remain mysterious. Among the few etiological clues are the almost unique serologic parallels between LOMG and thymoma-associated MG (TAMG), notably autoantibodies against acetylcholine receptors, titin, ryanodine receptor, type I interferons or IL-12. This is why we checked LOMG patients for two further peculiar features of TAMG – its associations with the CTLA4 high/gain-of-function +49A/A genotype and with increased thymic export of naive T cells into the blood, possibly after defective negative selection in AIRE-deficient thymomas. We analyzed genomic DNA from 116 …
Myasthenia-like syndrome induced by cardiovascular agents. Report of a case
1987
The case of a myasthenia-like syndrome induced by cardiovascular drugs is reported. The clinical and electrophysiological features of the case are discussed. © 1987 Masson Italia Periodici S.r.l.
Minimal manifestation status and prednisone withdrawal in the MGTX trial
2020
ObjectiveTo examine whether sustained minimal manifestation status (MMS) with complete withdrawal of prednisone is better achieved in thymectomized patients with myasthenia gravis (MG).MethodsThis study is a post hoc analysis of data from a randomized trial of thymectomy in MG (Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy [MGTX]). MGTX was a multicenter, randomized, rater-blinded 3-year trial that was followed by a voluntary 2-year extension for patients with acetylcholine receptor (AChR) antibody–positive MG without thymoma. Patients were randomized 1:1 to thymectomy plus prednisone vs prednisone alone. Participants were age 18–65 years at enr…
Drug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome
2022
[Objective] To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment.