Explanipedia

Rituximab for refractory ocular symptoms in myasthenia gravis with thyroid eye disease: a case report with quantitative MRI assessment Open

Dingxian He, Xiangwen Li, Baitong Wang, Yaqi Wang, Chong Yan , et al. · 2025

Aims To report a case with concurrent myasthenia gravis (MG) and thyroid eye disease (TED) showing response to rituximab (RTX) through both clinical evaluation and quantitative MRI assessment. Methods A 31-year-old female patient with refr…

Battery pollutant leakage disrupts antioxidant ability and gut microbial homeostasis of chickens Open

Xue Qin, Shuai Song, Xiang Gao, Shengmin Wang, Sushan Luo , et al. · 2025

Over the past few decades, battery industry and electronic equipment have undergone explosive growth, but the heavy metal waste generated has led to significant global ecological and public health challenges. Currently, increasing evidence…

A comprehensive framework for the interpretation of TTN missense variants Open

Maria Francesca Di Feo, Martin Rees, Victoria Lillback, Ay Lin Kho, Angelina Meybatova , et al. · 2025

Background: Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain architecture of the titin protein. While the …

AB018. Targeted biologics for treating thymoma associated myasthenia gravis: a multicenter retrospective study Open

Lei Jin, Dingxian He, Hongxi Chen, Hongyu Zhou, Quantao Zeng , et al. · 2025

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy Open

Marianela Schiava, Yolande Parkhurst, Matthew Henderson, Tuomo Polvikoski, Manouela V. Valtcheva , et al. · 2025

VCP-MSP muscle biopsies consistently show myopathic or mixed patterns with rimmed vacuoles and p62/VCP-positive inclusions, regardless of clinical phenotype, age, or progression. Some lack vacuoles, challenging diagnosis. Discrepancies bet…

From waste to flavor enhancer: differential pressure explosion puffing modifies spent coffee grounds for microbial consortia-driven flavor synthesis in craft beer systems Open

Jianghua Zheng, Sushan Luo, Muhammad Aaqil, Yuwei Guo, Feng Zhang , et al. · 2025

The high lignocellulosic encapsulation of spent coffee grounds (SCG) severely restricts their substrate accessibility and microbial responsiveness. This study elucidated the regulatory mechanism by which differential pressure explosion puf…

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

Jialong Zhang, Xinyu Chen, Chong Yan, Xinyu Gu, Wenhua Zhu , et al. · 2025

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

Dingxian He, Huahua Zhong, Lei Jin, Ran Chen, Zongtai Wu , et al. · 2025

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…

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

Chong Sun, Jianian Hu, Yanyin Zhao, Yongsheng Zheng, Quanhua Meng , et al. · 2025

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, …

Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI Open

José Verdú-Díaz, C. Bolano-Díaz, A. Gonzalez-Chamorro, S. Fitzsimmons, Jodi Warman‐Chardon , et al. · 2025

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 de…

The mechanism study of quercetin isolated from Zanthoxylum bungeanum maxim. inhibiting ferroptosis and alleviating MAFLD through p38 MAPK/ERK signaling pathway based on lipidomics and transcriptomics Open

Yan Chen, Fajian Ren, Nannan Yang, Qiwen Xiang, Song Gao , et al. · 2025

Background As a resource with a variety of medicinal and edible values, Zanthoxylum bungeanum Maxim has been found to improve high-fat diet-induced metabolic-associated fatty liver disease (MAFLD). Aim of the study The aim of this study wa…

A cohort of GFPT1 related Congenital Myasthenic Syndrome in China: High Frequency of c.331C>T Variant Open

Jialong Zhang, Xinyu Chen, Chong Yan, Xinyu Gu, Wenhua Zhu , et al. · 2025

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 underst…

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

Xuan Wu, Xiang‐Rong Xu, Lin Zhou, Kai Qiao, Chongbo Zhao , et al. · 2025

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 …

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

Lei Jin, Zhang‐Yu Zou, Qinzhou Wang, Wenshuang Zeng, Qilong Jiang , et al. · 2025

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 rec…

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

Yufan Zhou, Qian Zhou, Yao-Xian Yue, Sushan Luo, Jie Song , et al. · 2025

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…

A Systematic Review of Occupational Shoulder Exoskeletons for Industrial Use: Mechanism Design, Actuators, Control, and Evaluation Aspects Open

Jin Tian, Baichun Wei, Sushan Luo, Chifu Yang, Changbing Chen , et al. · 2024

Prolonged awkward arm postures and repetitive tasks in industrial environments can easily lead to worker injuries. The occupational shoulder exoskeleton is a promising solution to reducing the incidence of work-related musculoskeletal diso…

Nomogram for predicting pregnancy-related relapse of myasthenia gravis Open

Manqiqige Su, Xiaoqing Liu, Zongtai Wu, Jie Song, Xiao Huan , et al. · 2024

Background Myasthenia gravis (MG) is an autoimmune disease mediated by autoantibodies primarily affecting the neuromuscular junction. This study aims to identify risk factors for pregnancy-related MG relapse and develop a predictive model …

Effects of Muscle Synergy during Overhead Work with a Passive Shoulder Exoskeleton: A Case Study Open

Jin Tian, Baichun Wei, Chifu Yang, Sushan Luo, Feng Jin , et al. · 2024

Objective: Shoulder exoskeletons can effectively assist with overhead work. However, their impacts on muscle synergy remain unclear. The objective is to systematically investigate the effects of the shoulder exoskeleton on muscle synergies…

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

Jiaojiao Ma, Dan Chen, Fangfang Yi, Jie Song, Sushan Luo , et al. · 2024

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…

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

Huahua Zhong, Zhijun Li, Xicheng Li, Zongtai Wu, Chong Yan , et al. · 2024

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 cli…

Efgartigimod as a promising add-on therapy for myasthenic crisis: a prospective case series Open

Jie Song, Haiyan Wang, Xiao Huan, Qilong Jiang, Zongtai Wu , et al. · 2024

Introduction Efgartigimod is effective and well-tolerated in patients with anti-acetylcholine receptor (AChR) antibody-positive generalized myasthenia gravis (MG). However, the therapeutic potential and the safety profile of efgartigimod i…

Efgartigimod for generalized myasthenia gravis: A multicenter real‐world cohort study in China Open

Sushan Luo, Qilong Jiang, Wenshuang Zeng, Qinzhou Wang, Zhang‐Yu Zou , et al. · 2024

Objective Efgartigimod, a neonatal Fc receptor antagonist, facilitates antibody degradation including pathogenic IgGs. The ADAPT study demonstrated the tolerability and efficacy of efgartigimod in the treatment of generalized myasthenia gr…

A predictive nomogram for short‐term outcomes of myasthenia gravis patients treated with low‐dose rituximab Open

Yufan Zhou, Rongjing Guo, Xingyu Xia, Sisi Jing, Jun Lu , et al. · 2024

Background This study aims to establish and validate a predictive nomogram for the short‐term clinical outcomes of myasthenia gravis (MG) patients treated with low‐dose rituximab. Methods We retrospectively reviewed 108 patients who receiv…

Serum cytokines profile changes in amyotrophic lateral sclerosis Open

Chun-Zuan Xu, Xiao Huan, Sushan Luo, Huahua Zhong, Chongbo Zhao , et al. · 2024

In this study, we identified systemic cytokine profile changes in the serum of ALS patients, especially the elevated IL-18, as well as the decreased IL-21 in elder patients. These changes in serum cytokine profiles may shed new light on an…

Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1 Open

Huahua Zhong, Li Zeng, Xuefan Yu, Qing Ke, Jihong Dong , et al. · 2024

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis Open

Diana Esteller, Marianela Schiava, José Verdú-Díaz, Rocío‐Nur Villar‐Quiles, Boris Dibowski , et al. · 2024

Neurological Motor Disorders

Insights into refractory chronic inflammatory demyelinating polyneuropathy: a comprehensive real-world study Open

Yongsheng Zheng, Jianian Hu, Chong Sun, Kai Qiao, Yanyin Zhao , et al. · 2024

Background Refractory chronic inflammatory demyelinating polyneuropathy (CIDP) is a challenging subset of CIDP. It does not respond well to immune therapy and causes substantial disability. A comprehensive understanding of its clinical pro…

The safety and efficacy profile of eculizumab in myasthenic crisis: a prospective small case series Open

Jie Song, Xiao Huan, Yuanyi Chen, Yeting Luo, Huahua Zhong , et al. · 2024

Eculizumab has improved recovery from ventilatory support in myasthenic crisis (MC) cases. However, the safety and efficacy profiles from prospective studies are still lacking. This study aimed to explore eculizumab’s safety and efficacy i…

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

Lei Jin, Dingxian He, Quantao Zeng, Song Tan, Jian‐Quan Shi , et al. · 2024

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 compl…

Independent risk factors for in-hospital outcome of myasthenic crisis: a prospective cohort study Open

Yuan Wang, Xiao Huan, Xinfang Zhu, Jie Song, Chong Yan , et al. · 2024

Background: Myasthenic crisis (MC) is a life-threatening condition for myasthenia gravis (MG). Therapeutic plasma exchange (TPE) and intravenous immunoglobulin (IVIg) efficaciously treat patients with MC. However, not every MC responds wel…

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