Single breath count test and its applications in clinical practice: a systematic review
CONCLUSION: SBCT will undoubtedly be an asset in low resource settings and in tele-medicine to assess the prognosis and guide management of different respiratory and neuromuscular diseases.PMID:38576972 | PMC:PMC10990392 | DOI:10.1097/MS9.0000000000001853 (Source: Annals of Medicine)
Source: Annals of Medicine - April 5, 2024 Category: Internal Medicine Authors: Samikchhya Keshary Bhandari Anil Bist Anup Ghimire Source Type: research
Inter-laboratory comparison of routine autoantibody detection methods for autoimmune neuropathies and myasthenia gravis
AbstractSerological tests are important to detect autoantibodies (autoAbs) in patients with autoimmune neuropathies (AN) and myasthenia gravis (MG) as they are biomarkers for diagnosis, stratification, treatment selection, and monitoring. However, tests to detect autoAbs frequently lack proper standardization and results differ across diagnostic laboratories. We compared results for tests routinely performed in Spanish diagnostic laboratories to detect AN and MG autoAbs. In the Spanish Society of Immunology Autoimmunity Group national workshop, serum samples from 13 patients with AN or MG were tested for anti-ganglioside, ...
Source: Journal of Neurology - April 5, 2024 Category: Neurology Source Type: research
Social support and medication adherence among adult myasthenia gravis patients in China: the mediating role of mental health and self-efficacy
Myasthenia gravis (MG), a rare chronic neuromuscular disorder, is characterized by progressive physical decline and requires long-term pharmacological treatment. Due to the decline of physical and social abili... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 4, 2024 Category: Internal Medicine Authors: Jiazhou Yu, Luyao Xie, Shanquan Chen, Zhilan Fang, Liling Zhu, Huanyu Zhang, Richard H. Xu, Huan Yang and Dong Dong Tags: Research Source Type: research
Contribution of collagen XIII to lung function and development of pulmonary fibrosis
CONCLUSIONS: Changes in mouse lung function appear to represent a myasthenic manifestation of collagen XIII deficiency. We suggest that respiratory muscle myasthenia is the primary cause of the breathing problems suffered by CMS19 patients in addition to skeletal deformities. Induction of collagen XIII expression in the IPF patients' lungs warrants further studies to reveal collagen XIII-dependent disease mechanisms.PMID:38568728 | DOI:10.1136/bmjresp-2023-001850 (Source: Cell Research)
Source: Cell Research - April 3, 2024 Category: Cytology Authors: Oula Norman Jarkko Koivunen Riitta Kaarteenaho Antti M Salo Joni M M äki Johanna Myllyharju Taina Pihlajaniemi Anne Heikkinen Source Type: research
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt
HGG Adv. 2024 Apr 1:100288. doi: 10.1016/j.xhgg.2024.100288. Online ahead of print.ABSTRACTBiallelic loss of function variants in the MUSK gene result in two allelic disorders: 1) congenital myasthenic syndrome (CMS; OMIM 616325), a neuromuscular disorder which has a range of severity from severe neonatal-onset weakness to mild adult-onset weakness and 2) fetal akinesia deformation sequence (FADS; OMIM 208150), a form of pregnancy loss characterized by severe muscle weakness in the fetus. The MUSK gene codes for muscle specific kinase (MuSK), a receptor tyrosine kinase involved in the development of the neuromuscular junct...
Source: Adv Data - April 3, 2024 Category: Epidemiology Authors: Benjamin T Cocanougher Samuel W Liu Ludmila Francescatto Alexander Behura Mariele Anneling David G Jackson Kristen L Deak Chi D Hornik Mai K ElMallah Carolyn E Pizoli Edward C Smith Khoon Ghee Queenie Tan Marie T McDonald Source Type: research
Gut microbiota-derived butyrate restores impaired regulatory T cells in patients with AChR myasthenia gravis via mTOR-mediated autophagy
More than 80% of patients with myasthenia gravis (MG) are positive for anti-acetylcholine receptor (AChR) antibodies. Regulatory T cells (Tregs) suppress overproduction of these antibodies, and patients with A... (Source: Cell Communication and Signaling)
Source: Cell Communication and Signaling - April 3, 2024 Category: Molecular Biology Authors: Long He, Zhuotai Zhong, Shuting Wen, Peiwu Li, Qilong Jiang and Fengbin Liu Tags: Research Source Type: research
Autoimmunity in thymic epithelial tumors: a not yet clarified pathologic paradigm associated with several unmet clinical needs
Thymic epithelial tumors (TETs) are rare mediastinal cancers originating from the thymus, classified in two main histotypes: thymoma and thymic carcinoma (TC). TETs affect a primary lymphoid organ playing a critical role in keeping T-cell homeostasis and ensuring an adequate immunological tolerance against “self”. In particular, thymomas and not TC are frequently associated with autoimmune diseases (ADs), with Myasthenia Gravis being the most common AD present in 30% of patients with thymoma. This comorbidity, in addition to negatively affecting the quality and duration of patients’ life, reduces the spectrum of the ...
Source: Frontiers in Immunology - April 2, 2024 Category: Allergy & Immunology Source Type: research
Oral salbutamol for symptomatic treatment in MuSK antibody-positive myasthenia gravis: a single-centre experience
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - April 2, 2024 Category: Neurology Source Type: research
Improving Outcome in Severe Myasthenia Gravis and Guillain –Barré Syndrome
Semin Neurol DOI: 10.1055/s-0044-1785509When progressive and severe, myasthenia gravis and Guillain–Barré syndrome may have the potential for fatal and unfavorable clinical outcomes. Regardless of important differences in their clinical course, the development of weakness of oropharyngeal muscles and respiratory failure with requirement of mechanical ventilation is the main driver of poor prognosis in both conditions. The need for prolonged mechanical ventilation is particularly relevant because it immobilizes the patient and care becomes extraordinarily complex due to daily risks of systemic complications. Additionally...
Source: Seminars in Neurology - April 1, 2024 Category: Neurology Authors: Hawkes, Maximiliano A. Wijdicks, Eelco F. M. Tags: Review Article Source Type: research
Clinical Features and Prognostic Analysis of MuSK-Antibody-Positive Myasthenia Gravis versus Double-Seropositive Myasthenia Gravis: A Single-Center Study from Central South China
(Source: Neuropsychiatric Disease and Treatment)
Source: Neuropsychiatric Disease and Treatment - March 29, 2024 Category: Psychiatry Tags: Neuropsychiatric Disease and Treatment Source Type: research
