The Etiology Analysis of Myasthenia Gravis with In-Hospital Mortality in the Neurocritical Care Unit.

Background: Our objective was to investigate the characteristics and causes of death in deceased patients with myasthenia gravis (MG).

Methods: This study conducted a retrospective analysis of data from patients with MG in the neurocritical unit at two large general hospitals in China spanning 10 years, from January 2014 to December 2023. Detailed demographic and clinical information were collected for deceased patients.

Efgartigimod versus standard of care in new-Onset AChR subtype generalized myasthenia gravis: A prospective cohort study.

Efgartigimod (EFG) is usually used to treat generalized myasthenia gravis (gMG) with long disease duration; the benefit in new-onset gMG remained unknown. This study included 87 new-onset gMG patients who received either oral steroid and immunosuppressive treatment (Conventional group, n = 30) or combined with EFG (EFG group, n = 57). The primary outcome was minimal symptom expression (MSE) responders, as denoted by a Myasthenia Gravis Activities of Daily Living (MG-ADL) of 0 or 1 for over 4 weeks.

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.

Background And Objectives: Valosin Containing Protein-associated multisystem proteinopathy (VCP-MSP) is a progressive, autosomal dominant disorder caused by pathogenic variants in the VCP gene, resulting in a heterogeneous clinical presentation. Muscle biopsy findings are characteristic but not pathognomonic. This study aimed to comprehensively analyse VCP-related myopathology and explore correlations with clinical phenotypes, genetic variants, and disease progression.

A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.

Background: Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the key enzyme initiating protein O- and N-glycosylation at the postsynaptic membrane. Variants in GFPT1 gene cause congenital myasthenic (GFPT1-CMS). However, the understanding of the phenotype and genetic spectrum of GFPT1-CMS remains limited.

Serum cystatin C as a potential biomarker for generalized acetylcholine receptor antibody-positive myasthenia gravis.

Objective: To identify new metabolic biomarkers associated with myasthenia gravis (MG).

Methods: We analyzed 285 potential metabolic molecules from UK Biobank (UKB) for MG patients and identified elevated serum cystatin C (Cys-C). Validation was performed using laboratory data, ELISA, and clinical information from Chinese (CHN) acetylcholine receptor antibody (AChR-Ab) positive generalized MG (gMG) cohorts.

Short-term treatment of CIDP with efgartigimod: a case series in China.

Objective: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a type of autoimmune neuropathy with treatment challenges due to the limitations of standard of care therapies. Efgartigimod, a neonatal Fc receptor antagonist, has shown potential in treating antibody-mediated disorders including CIDP (ADHERE study), but real-world studies on the application of efgartigimod in CIDP are still lacking. This study aimed to evaluate the short-term efficacy and safety of efgartigimod in five patients with CIDP in China.

Perioperative Safety and Efficacy of Efgartigimod for Thymoma-Associated Myasthenia Gravis: A Prospective, Multicenter, Phase II Clinical Trial.

Introduction: This study reports the primary perioperative outcomes of efgartigimod in patients with thymoma-associated myasthenia gravis (TAMG).

Methods: We conducted a prospective, single-arm clinical trial to evaluate the perioperative use of efgartigimod in acetylcholine receptor antibody-positive (AChR-Ab+) generalized TAMG. Efgartigimod was administered intravenously at a dose of 10 mg/kg on days 1, 8, 15, and 22, totaling four doses, with thymomectomy performed on day 9.

Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.

Background: Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling. Muscle magnetic resonance imaging (MRI) has emerged as a valuable diagnostic tool by identifying characteristic patterns of muscle involvement.

Efgartigimod for induction and maintenance therapy in muscle-specific kinase myasthenia gravis.

Background: The efficacy of efgartigimod in treating myasthenia gravis (MG) patients with muscle-specific kinase (MuSK) antibodies has not been demonstrated in the clinical trial, existing case reports, or observational studies.

Objectives: To evaluate the efficacy and safety of efgartigimod combined with immunotherapies such as tacrolimus or B-cell depleting agents, as maintenance treatment for MuSK-MG patients.

Design: This retrospective study included 14 MuSK-MG patients treated with efgartigimod at three tertiary hospitals from 2023 to 2024.

4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy-Like Phenotype.

Facioscapulohumeral muscular dystrophy (FSHD) is caused by pleiotropic contractions of the D4Z4 repeat array on chromosome 4q35 (FSHD1) or by mutations in repressive chromatin regulators of the D4Z4 loci (FSHD2), both resulting in epigenetic dysregulation at the D4Z4 array. DNA methylation of the D4Z4 repeat array has been proposed for diagnosis and prognosis of FSHD disease severity; however, further validation in larger populations is needed. Two hundred forty-seven clinically suspected FSHD cases were retrospectively analyzed with D4Z4 analysis by optical genome mapping or molecular combing and tested the DNA methylation levels for 75 patients and 49 healthy controls.

Clinical outcome and peripheral CD4 T profile in impending myasthenic crisis: A prospective cohort study.

Impending Myasthenic Crisis (MC) is defined as a rapid worsening of myasthenia gravis (MG) that can progress to respiratory failure within days to weeks. The clinical data regarding the outcome and peripheral immune profile is limited. This multicenter cohort enrolled 37 patients with impending MC who were given timely rescue therapies from six university hospitals (n = 272).

Response of refractory residual ocular symptoms to efgartigimod in generalized myasthenia gravis: A real-world case series.

Objective: To evaluate the efficacy of efgartigimod (EFG) in treating residual ocular symptoms in myasthenia gravis (MG) patients with acetylcholine receptor antibodies (AChR-Ab).

Methods: Five MG patients with refractory residual ocular symptoms treated with EFG at Huashan Hospital were included. The demographic and clinical information was collected, and MG Activities of Daily Living (MG-ADL) scores and Quantitative Myasthenia Gravis (QMG) scores was elevated weekly during the 8-week follow up period.

Patterns and predictors of therapeutic response to efgartigimod in acetylcholine receptor-antibody generalized myasthenia gravis subtypes.

Background: Efgartigimod is an approved biologic for generalized myasthenia gravis (gMG), which is an autoimmune disease and can potentially be life-threatening. However, the therapeutic response to efgartigimod among the acetylcholine receptor gMG (AChR-gMG) subtypes remains inconclusive.

Objective: To explore the patterns and predictors for the therapeutic response to efgartigimod among AChR-gMG subtypes.

Distal muscle weakness as the main onset symptom in thymoma-associated myasthenia gravis: a case report and literature review.

Myasthenia gravis (MG) is an autoimmune disorder within the spectrum of neuromuscular rare diseases, characterized by fluctuating muscle weakness. This report presents a case of a middle-aged woman with a chronic onset of asymmetric upper limb weakness accompanied by difficulty in finger extension, without ptosis or fluctuation for 4 years. The patient was finally diagnosed with MG by a significant decrement of Compound Muscle Action Potential in repetitive nerve stimuli, positive anti-acetylcholine receptor antibodies as well as the presence of a mass located in the anterior mediastinum.

Ofatumumab for treating autoimmune nodopathy.

Background And Aims: To investigate the treatment of ofatumumab in autoimmune nodopathy (AN).

Methods: An open-label, prospective, observational study was conducted in patients with AN. The regimen was 20 mg ofatumumab subcutaneously on day 0, 7, 14, 28, and subsequently every 4 weeks in a total of 24 weeks.

Eculizumab in thymoma-associated myasthenia gravis: a real-world cohort study.

Background: Thymoma-associated myasthenia gravis (TAMG) is a subtype of myasthenia gravis (MG) that is associated with more severe symptoms and a relatively poor prognosis. Eculizumab, an inhibitor to target human C5 component of the complement cascade, is considered a treatment option for refractory generalized MG (gMG).

Objectives: To explore the safety and efficacy of eculizumab in patients with TAMG.

Optimal time for the addition of non-corticosteroid immunosuppressants in myasthenia gravis: a single-center retrospective study in China.

Introduction: Patients with myasthenia gravis (MG) display strong treatment heterogeneity. Recent studies have indicated that low-dose steroids or immunosuppressants are effective. However, factors affecting the add-on of non-corticosteroid immunosuppressants to corticosteroids remain unknown.

Initiation response, maximized therapeutic efficacy, and post-treatment effects of biological targeted therapies in myasthenia gravis: a systematic review and network meta-analysis.

Background: As targeted drug development in myasthenia gravis (MG) continues to advance, it is important to compare the efficacy of these drugs for better clinical decision-making. However, due to the varied regimens and dosages used in clinical trials for different drugs, a standardized comparison between them is necessary.

Methods: This study enrolled participants in phase II and III trials of innovative targeted drugs for MG.

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Background: GlcNAc2-epimerase (GNE) myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the gene, which is essential for the sialic acid biosynthesis pathway.

Objective: This multi-centre study aimed to delineate the clinical phenotype and variant spectrum in Chinese patients, enhancing our understanding of the genetic diversity and clinical manifestation across different populations.

Methods: We retrospectively analysed variants from 113 patients, integrating these data with external variants from online databases for a global perspective, examining their consequences, distribution, ethnicity and severity.

Complement system activation: bridging physiology, pathophysiology, and therapy.

The complement system is a set of over 50 proteins that constitutes an essential part of the innate immune system. Complement system activation involves an organized proteolytic cascade. Overactivation of complement system activation is the main pathogenic mechanism of several diseases and contributes to the manifestations of many other conditions.

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Late-onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to progressive limb-girdle weakness and respiratory impairment. The insidious onset of non-specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high-risk screening criteria for LOPD in the Chinese population.

Long-term and low-dose rituximab treatment for chronic inflammatory demyelinating polyneuropathy.

Objective: To evaluate the efficacy and safety of a low-dose, long-term rituximab regimen in the treatment of idiopathic CIDP.

Methods: This study included 15 CIDP patients treated with rituximab. Patients were administered 600 mg of rituximab intravenously every 6 months.