BMC Neurology最新文献

Background: Myasthenia gravis (MG), a rare autoimmune neuromuscular disorder, imposes long-term physical and psychological burdens on patients due to its chronicity, recurrence, and limited societal awareness. Social support plays a critical role in mitigating disease-related stressors, yet its status and determinants remain understudied in Chinese MG populations.

Objective: We aimed to explore the current status of social support in patients with myasthenia gravis and analyze the related factors.

Methods: A total of 153 patients with myasthenia gravis were investigated using a general information questionnaire, social support scale, and illness perception scale. One-way analysis of variance and multiple linear regression were used for statistical analysis.

Results: The total score on the social support scale was 37.69 ± 5.10 points, the objective support score was 7.51 ± 1.92 points, the subjective support score was 24.80 ± 2.97 points, and the support utilization score was 5.38 ± 1.88 point. The results of multiple linear regression showed that marital status, situation of children, number of children, duration of illness, disease severity (MGFA class), personal control, treatment control, and emotional representations in illness perception were the influencing factors of social support.

Conclusion: Our study showed that disease severity is an influencing factor of social support. The level of social support among patients with myasthenia gravis is moderate, indicating a need for improvement in the current social support system. It is suggested that attention should be paid to the level of social support for patients with myasthenia gravis and related security systems should be established for social support to have a role in promoting health.

Introduction: Disease criteria for multiple sclerosis (MS) have changed significantly over the past three decades. The development of biomarkers, particularly MRI, has played an essential role in this process. These changes can lead to several broader implications, which are not always intended or recognized. However, they can have a major impact on patients, healthcare and society. We investigated the changing disease criteria, explored the underlying motives and discuss their implications.

Methods: We identified all publications on MS diagnostic criteria between 1983 and 2024. Through conventional content analysis, we systematically examined the aims of each revision and identified the underlying problems and factors motivating these aims. Furthermore, we assessed the changes made to the content in each revision.

Results: Since the transition from the Poser research criteria to the McDonald clinical criteria in 2001, there has been a significant change in the aims of the criteria, which has continued in subsequent McDonald revisions. Two explicit new aims were to integrate MRI into the diagnostic scheme and to reach an earlier diagnosis of MS whenever possible. Furthermore, the emphasis moved towards criteria that are easy to apply in everyday clinical practice, rather than being exclusively for research purposes. This shift is at least partially connected to the emergence of disease-modifying treatments, which have introduced new diagnostic and monitoring needs. Additionally, advancements in MRI research have contributed to this process. As a result, MRI has become central to the diagnostic criteria over the years, while clinical symptoms now play a much smaller role.

Discussion: The shift in the criteria has several broader implications. It has a major impact on how MS is conceptualized as a disease and has expanded the disease spectrum to include new terms such as radiologically isolated syndrome (RIS). It also influences our understanding of the natural course of the disease and calls for a careful balance between early diagnosis and misdiagnosis. Awareness of the process of changes and their broader consequences can help balance the benefits and potential negative effects and helps critically frame the decisions of the 2024 revisions.

Background: Developmental and epileptic encephalopathy-73 (DEE73, OMIM: #618379) is a rare autosomal dominant genetic disorder. This study reports a novel de novo RNF13 variant in a Chinese patient, aiming to assess its pathogenicity and expand understanding of the phenotypic and molecular spectrum of DEE73.

Methods: Whole-exome sequencing was performed on the patient to identify candidate variants associated with the clinical phenotype. Putative pathogenic variants were validated by Sanger sequencing. In silico prediction tools were used to assess the functional impact of the identified variant. A literature review was conducted to summarize the clinical features of the 7 previously reported cases of DEE73.

Results: A novel likely pathogenic frameshift variant, c.929del/p.(Pro310fs*3), in RNF13 was identified in the patient. The clinical presentation was consistent with the diagnostic features of DEE73, yet also exhibited phenotypic heterogeneity, including severe scoliosis and pectus carinatum. A literature review confirmed that the core clinical features of DEE73 include microcephaly, seizures, developmental delay, joint contractures, abnormal muscle tone and electroencephalogram abnormalities.

Conclusions: This study expands the known genetic spectrum of DEE73 and enhances the understanding of phenotypic characteristics associated with RNF13 variants. The findings have important implications for improving variant-based screening, genetic diagnosis, and insights into the molecular mechanisms of RNF13-related disorders.

Background: Vertebral artery (VA) webs are rare intraluminal shelf-like protrusion considered a potential cause of posterior circulation ischemia. Because of its atypical imaging features, it is often misdiagnosed as arterial dissection or atherosclerotic stenosis. Evidence regarding optimal management remains limited; current treatment options include antithrombotic therapy, angioplasty, and stent implantation, yet no clinical studies have established the best treatment strategy.

Case presentation: We report the case of a 68-year-old man with a 3-month history of recurrent dizziness. Digital subtraction angiography (DSA) revealed a web in the right V1 segment with severe stenosis. After exclusion of alternative etiologies, the dizziness was considered to be related to posterior circulation ischemia attributable to the VA lesion. Despite treatment with aspirin, clopidogrel, and atorvastatin, the patient continued to experience recurrent symptoms. He subsequently underwent successful stent implantation, with complete resolution of symptoms. Follow-up angiography at 6 months demonstrated mild in-stent restenosis (ISR) accompanied by stent fracture.

Conclusions: This case highlights that VA web should be considered in patients with unexplained posterior circulation ischemia. Stent implantation may represent an effective treatment option for symptomatic patients refractory to medical therapy; however, the risk of post-procedural restenosis should be recognized. Long-term follow-up and further studies are required to determine optimal management strategies.