Aims: To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH).Methods: We enrolled 8 Chinese patients with familial DSH, 5 Chinese patients with sporadic DSH, and 100 randomly selected healthy individuals in this study. The genome of each participant was extracted from peripheral blood samples. Sanger sequencing of the ADAR1 gene was performed after polymerase chain reaction amplifications. Comparisons between the DNA sequences of the affected individuals and the NCBI database were performed.Results: We detected eight novel heterozygous mutations and five previously reported mutations in the ADAR1 gene in our patients. The novel mutations include c.1934 + 3A>G, c.2749A>G, c.2311insA, c.3233G>A, c.3019 + 1G>T, c.2894C>A, c.1202_1205del, and c.2280C>A. These detected novel mutations are predicted to induce two frame-shift mutations, one nonsense mutation, three missense mutations, and two splice-site mutations.Conclusions: The findings of this study expand our knowledge of the range of ADAR1 gene mutations in DSH and will contribute to identifying correlations between the various DSH phenotypes and genotypes. Furthermore, they may provide insight into the underlying pathogenic mechanism.

Although N6-methyladenosine (m6A) has been implicated in various biological functions in human cancers, its role in predicting the prognosis of glioma remains unclear. In this study, the transcriptome expression profiles and the clinical data of 961 patients were derived from the Chinese Glioma Genome Atlas (CGGA). We comprehensively evaluated the association between the expression of m6A regulators and the prognosis of glioma and established a 3-gene (YTHDF2, FTO, and ALKBH5) risk signature using least absolute shrinkage and selection operator (LASSO) analysis. Patients with a high-risk signature had significantly adverse prognoses. Gene set enrichment analysis (GSEA) analysis revealed that the G2M checkpoint, MTORC1 signaling, epithelial mesenchymal transition, and PI3K-AKT-mTOR signaling were significantly enriched in the high-risk group. Univariate and multivariate Cox regression analyses confirmed the independent prognostic value of this risk signature. We then constructed a nomogram for individualized prediction of overall survival (OS) by integrating clinicopathological features (age, World Health Organization [WHO] grade), treatment information (radiotherapy, temozolomide therapy), and m6A risk signature. The calibration curves showed excellent agreement between the predicted and actual probabilities for the 1-, 3-, and 5-year OS, with a C-index of 0.780 in the training cohort and 0.717 in the validation cohort. Altogether, our study elucidated the important role of m6A regulators in glioma prognosis, which is valuable for the selection of therapeutic methods and clinical management of patients with glioma.

Objective: To evaluate the blink reflex (BR) in estimating the potential injury of trigeminal nerve following percutaneous balloon compression (PBC) surgery, and to determine the association between BR alterations and early surgical outcomes. Methods:In this single-center, prospective before-and-after study, a total of 74 patients who had primary trigeminal neuralgia and scheduled for PBC between October 2020 and June 2021 were prospectively included. BR testing and facial sensory assessment were performed pre-and post-PBC. The latency and the area under the curve (AUC) of pre-and postoperative R1 (R1 pre /R1 post ) and R2 (R2 pre /R2 post ) were measured. Results:The BR components were noticeably delayed or diminished following PBC.R1 post was elicited in only 26 patients, and absent in 48 patients. The residual R1 post had markedly reduced AUC (median difference [Hodges-Lehmann]: −59.5, 95% confidence interval [CI]: −217.5 to −6.9, p = 0.023). Compared with R2 pre , the latency of R2 post was considerably delayed (mean difference: 4.3, 95% CI: 2.9 to 5.7, p < 0.001) and the AUC was greatly suppressed (median difference [Hodges-Lehmann]: −388.4, 95% CI: −548.4 to −259.5, p < 0.001). After PBC, 58 patients had immediate total pain relief, and 16 had partial relief. The absence of R1 post was found in 46 of 58 (79.3%) patients with complete remission, whereas in only 2 of 16 (12.5%) patients with partial relief. Association analysis showed that the absence of R1 post was strongly associated with total pain relief (46/58 [79.3%] vs. 2/16 [12.5%], odds ratio [OR]: 26.8, 95% CI: 5.4 to 134.5, Cramér's V: 0.6, p < 0.001). The latency of R2 post in patients with total relief was significantly delayed (mean difference: 2.5, 95% CI: 0.3 to 4.6, p = 0.028).Patients experienced graded facial numbness after PBC, of whom 31 reported mild numbness (Grades I-II) and 43 reported more severe numbness (Grades III-IV). The absence of R1 post was significantly associated with facial numbness severity, 33/43

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Background: Microvascular decompression (MVD) surgery is recognized as an effective treatment for hemifacial spasm (HFS). In MVD surgery, biocompatible materials are usually implanted in situ at the neurovascular conflict site in contact with the offending vessel and the facial root entry/exit zone (REZ).Another procedure of implanting the materials between the responsible vessel and the supraolivary fossa without REZ contact has also been applied. However, it is unclear whether there are any differences between these 2 procedures (REZ-contact procedure vs. REZ-non-contact procedure). Therefore, the aim of the present study was to investigate the effect of the placement of implants (contacting or not contacting the facial REZ) on surgical operations and outcomes Methods: A historical control study was performed. Clinical data of HFS patients who underwent MVD between December 2016 and November 2018 were reviewed and categorized into 1 group with the REZcontact procedure or another group with the REZ-non-contact procedure according to the decompression strategy they received. Clinical demographics, postoperative outcomes, and complications were collected and compared between the two groups.Results: Not all patients are suitable for REZ-non-contact decompression. A total of 205 patients were enrolled: 112 in the REZ-contact group and 93 in the REZ-non-contact group. In the early postoperative period, the complete cure rate in the REZ-non-contact group was significantly higher than that in the REZ-contact group. The reappearance and partial relief rates in the REZ-contact group were significantly higher than those in the REZ-non-contact group. The incidence of short-term neurological complications, especially hearing loss and transient facial palsy, was lower in the REZ-non-contact group (P=0.043). But for long-term follow-up of >1 year, there was no significant difference between the two groups in either curative effects or neurological complications. The operating time for REZ-non-contact decompression was relatively longer than for REZ-contact decompression (P=0.000). An unexpected subdural hemorrhage occurred in the REZ-non-contact group.Conclusions: REZ-non-contact decompression procedure showed superiority only in short-term postoperative outcomes. Given its limitations and potential risks, the REZ-non-contact procedure can be used as an alternative individualized strategy in MVD, and there is no need to pursue REZ-non-contact during the decompression.