<b><i>Objective:</i></b> Deep brain stimulation (DBS) of the internal segment of the globus pallidus (GPi) is an alternative therapy in ameliorating the clinical symptoms of primary Meige syndrome. Nevertheless, proof of its efficacy and safety is insufficient due to several case reports and small-sample clinical studies. This study aims to investigate postoperative long-term efficacy in patients undergoing DBS of the GPi for primary Meige syndrome. <b><i>Methods:</i></b> We performed a retrospective study to assess the efficacy and safety of bilateral GPi stimulation in 40 patients with primary Meige syndrome who responded poorly to medical treatments or botulinum toxin injections. All participants were postoperatively followed up at the outpatient clinic, and their motor functions were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). The severity of patients’ dystonia was evaluated before surgery and at follow-up neurostimulation. <b><i>Results:</i></b> The implanted stimulator was turned on 1 month after surgery. All 40 patients received monopolar stimulation using the following parameters: voltage 2.5–3.5 V (average: 2.6 ± 0.8 V), frequency 60–160 Hz (average: 88.0 ± 21.3 Hz), and pulse width 60–185 μS (average: 90.0 ± 21.1 μS). In 28 of 40 patients, the symptoms had significantly improved within 1 week of stimulation. Most of the patients had been followed up for 6–24 months (average: 15.0 ± 7.8 months). The clinical symptoms of all patients had significantly improved. At 6, 12, and 24 months after surgery, the BFMDRS subscores of eyes, mouth, speech, and swallowing were significantly lower, and subscores of mouth movement showed progressively decreased with prolonged stimulation time. The overall improvement rate was 83%. Five adverse events occurred in the 40 patients; all of these events resolved without permanent sequelae. <b><i>Conclusions:</i></b> Bilateral GPi-DBS demonstrated satisfactory long-term efficacy in the treatment of primary Meige syndrome and could serve as an effective and safe option.
Background: Gene polymorphism especially Ring Finger Protein 213 (RNF213) p.R4810K is one of the main cause of moyamoya disease (MMD) in Asian populations, especially among Japanese people. However, missense mutation may not explain the reduced frequency of MMD in Chinese patients. We performed a hospital based case-control study in a Chinese population to elucidate the possible underlying reasons.Methods: Five gene polymorphism loci, namely, rs35692831, rs9916351, rs9913636, rs8074015 and rs112735431, were included. A total of 98 patients and 114 healthy controls were enrolled in the study.
Genomic DNA was genotyped by Mass Array methods.Results: A significant difference was observed between patients and healthy controls in rs9916351, rs9913636, and rs8074015 loci under three genotypes and allelic models (P<0.01). Logistic regression analysis revealed the significant differences under the dominant, recessive and additional model in rs9916351 [
Electrophysiological signatures predict clinical outcomes after deep brain stimulation of the globus pallidus internus in Meige syndrome, Brain Stimulation,
We sought to clarify the clinical relationship between REST/NRSF expression and the prognosis of glioma and explore the REST-associated competitive endogenous RNA (ceRNA) network in glioma. We downloaded RNA-seq, miRNA-seq and correlated clinical data of 670 glioma patients from The Cancer Genome Atlas and analyzed the correlation between REST expression, clinical characteristics and prognosis. Differentially expressed genes (DEGs) were identified with DESeq2 and analyzed with Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) using the Profiler package. Starbase was used to explore the regulatory interaction between REST and miRNAs or LncRNAs. The lncRNA-miRNA-REST ceRNA network was constructed with Cytoscape. RT-qPCR, WB, CCK8, wound-healing, and luciferase assays were performed to validate the ceRNA network. Results showed that REST expression was significantly higher in glioma patients than normal samples. Higher REST expression was significantly associated with worse overall survival, progression-free interval, and worse disease-specific survival in glioma patients. The DEGs of mRNA, miRNA, and lncRNA were identified, and GO and KEGG enrichment analyses were performed. Finally, REST-associated ceRNA networks, including NR2F2-AS1-miR129-REST and HOTAIRM1-miR137-REST, were experimentally validated. Thus, REST may be a prognostic biomarker and therapeutic target in glioma, and its regulatory network validated in this study may provide insights into glioma's molecular regulatory mechanisms.
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