Deep brain stimulation of the subthalamic nucleus for a patient with drug resistant juvenile myoclonic epilepsy: 1 year follow-up.

BACKGROUND: Drug-resistant juvenile myoclonic epilepsy (DR-JME) remains a significant challenge in neurology. Traditional management strategies often fail to achieve satisfactory control, necessitating innovative treatments. OBJECTIVE: This case report aims to evaluate the efficacy and safety of deep brain stimulation (DBS) targeting the subthalamic nucleus (STN-DBS) in a patient with DR-JME. METHODS: We describe the treatment of a patient with DR-JME using STN-DBS. The patient underwent implantation and received high-frequency stimulation (HFS) at the STN. RESULTS: One year post-implantation, the patient demonstrated a substantial reduction in motor seizure frequency by 87.5%, with improvements in quality of life and seizure severity by 52.0% and 46.7%, respectively. No adverse events were reported during the follow-up period. CONCLUSIONS: This case represents the first report of favorable outcomes with STN-DBS in a patient with DR-JME, suggesting that long-term HFS of the STN may be a promising treatment option for patients suffering from this condition.

Deep Brain Stimulation Modulates the Visual Pathway to Improve Freezing of Gait in Parkinson's Disease Patients.

OBJECTIVE: To investigate the involvement of the visual cortex in improving freezing of gait (FoG) after subthalamic nucleus (STN) deep brain stimulation (DBS) in Parkinson's disease (PD) patients using whole-brain seed-based functional connectivity. METHODS: A total of 66 PD patients with FoG who underwent bilateral STN-DBS were included in our study. Patients were divided into a FoG responder group and an FoG nonresponder group according to whether FoG improved 1 year after DBS. We compared the differences in clinical characteristics, brain structural imaging, and seed-based functional connectivity between the 2 groups. The locations of active contacts were further analyzed. RESULTS: All PD patients benefited from STN-DBS. No significant differences in the baseline characteristics or brain structures were found between the 2 groups. Seed-based functional connectivity analysis revealed that better connectivity in bilateral primary visual areas was associated with better clinical improvement in FoG (P < 0.05 familywise error corrected). Further analysis revealed that this disparity was associated with the location of the active contacts within the rostral region of the sensorimotor subregion in the FoG responder group, in contrast to the findings in the FoG nonresponder group. CONCLUSIONS: This study suggested that DBS in the rostral region of the STN sensorimotor subregion may alleviate FoG by strengthening functional connectivity in primary visual areas, which has significant implications for guiding surgical strategies for FoG in the future.

Vagus Nerve Stimulation for Drug Resistant Epilepsy: Clinical Outcome, Adverse Events, and Potential Prognostic Factors in a Single Center Experience.

OBJECTIVE: Vagus nerve stimulation (VNS) has been used for adjunctive treatment in drug resistant epilepsy (DRE) for decades. Nevertheless, information is lacking on possible potential prognostic factors. Our study presents the efficacy and safety of VNS with a focus on prognostic factors in 45 patients with DRE. METHODS: We retrospectively evaluated the clinical outcome of 45 consecutive patients with DRE undergoing VNS implantation in The First Affiliated Hospital of Anhui Medical University between November 2016 and August 2021. Medical records were aggregated across all patient visits. Cox proportional hazards regression was used to estimate the prognostic factors. RESULTS: Significant decrease in seizure frequency was observed after intermittent stimulation of the vagus nerve. According to the modified McHugh classification, 11 patients (24.4%) were Class I, 11 patients (24.4%) were Class II, four patients (8.9%) were Class III, 10 patients (22.2%) were Class IV, and nine patients (20.0%) were Class V. Notably, 22 patients (48.9%) were responders and four patients (8.9%) were seizure-free at the final follow-up. No significant prognostic factors were found in this cohort. Furthermore, 37 patients reported improved quality of life. Of the patients, 22 (48.9%) experienced adverse events after surgery; hoarseness, discomfort at the surgical site, and coughing were the most common. CONCLUSION: The results confirmed the efficacy and safety of VNS. No prognostic factors were identified.

Short- and Long-Term Response of Vagus Nerve Stimulation Therapy in Drug-Resistant Epilepsy: A Systematic Review and Meta-Analysis.

OBJECTIVES: To compare the short- and long-term efficacies as well as tolerability of vagus nerve stimulation (VNS) for the patients with drug-resistant epilepsy (DRE) in comparison with status at baseline. MATERIALS AND METHODS: We conducted a specific and systematic search in online data bases for relevant literature published prior to December 2020. The literature retrieved, including randomized clinical trials (RCTs) and observational studies, were then reviewed and analyzed. A fixed-effect model was used to evaluate the pooled odds ratio (OR) of responder rates and complications associated with RCTs. A random-effect model was used to generate overall responder rates and overall incidences of complication. RESULTS: A total of 61 studies, featuring 5223 patients, were included in our study. The pooled ORs of responder rates, hoarseness/voice change, throat pain, coughing, dyspnea, paresthesia, muscle pain, and headache during the short-term phase were 2.195 (p = 0.001), 5.527 (p = 0.0001), 0.935 (p = 0.883), 1.119 (p = 0.655), 2.901 (p = 0.005), 1.775 (p = 0.061), 3.606 (p = 0.123), and 0.928 (p = 0.806), respectively. The overall responder rates in 3, 6, 12, 24, 36, 48, and 60 months postoperatively were 0.421, 0.455, 0.401, 0.451, 0.482, 0.502, and 0.508, respectively. The overall incidences of complication were 0.274 for hoarseness/voice change, 0.099 for throat pain, 0.133 for coughing, 0.099 for dyspnea, 0.102 for paresthesia, 0.062 for muscle pain, 0.101 for headache, 0.015 for dysphagia, 0.013 for neck pain, 0.040 for infection, 0.030 for lead fracture, 0.019 for vocal cord palsy, and 0.020 for device malfunction, respectively. CONCLUSIONS: The estimating of efficacy and tolerability, using data from the existing literature, indicated VNS therapy is a safe and effective treatment option for patients with DRE.

Wavefront correction algorithm based on a complete second-order DM-SHWS model for free-space optical communications.

Free-space optical communication brings large-capacity communication with excellent confidentiality, though fatal obstacles are set by atmospheric turbulence that causes phase shifting in laser links. Therefore, we derived a novel, to the best of our knowledge, iterative wavefront correction algorithm based on a complete second-order deformable mirror (DM) Shack-Hartmann wavefront sensor model as a solution to it. For correcting static wavefront aberration, the proposed algorithm possesses a converging speed faster than the traditional one. In terms of correcting dynamic atmospheric turbulence, it can achieve convergence within two iterations with a residual wavefront root mean square value of less than 1/8 wavelength. The input wavefront under 1.5 wavelength can be corrected on our testbed due to the deformability of the micromachined membrane DM. The research result offers a solution for atmospheric turbulence in the adaptive optics field and may contribute to the development of free-space optical communication.

Resolution of deep divergence of club fungi (phylum Basidiomycota).

A long-standing question about the early evolution of club fungi (phylum Basidiomycota) is the relationship between the three major groups, Pucciniomycotina, Ustilaginomycotina and Agaricomycotina. It is unresolved whether Agaricomycotina are more closely related to Ustilaginomycotina or to Pucciniomycotina. Here we reconstructed the branching order of the three subphyla through two sources of phylogenetic signals, i.e. standard phylogenomic analysis and alignment-free phylogenetic approach. Overall, beyond congruency within the frame of standard phylogenomic analysis, our results consistently and robustly supported the early divergence of Ustilaginomycotina and a closer relationship between Agaricomycotina and Pucciniomycotina.

Distribution, Diversity, and Long-Term Retention of Grass Short Interspersed Nuclear Elements (SINEs).

Instances of highly conserved plant short interspersed nuclear element (SINE) families and their enrichment near genes have been well documented, but little is known about the general patterns of such conservation and enrichment and underlying mechanisms. Here, we perform a comprehensive investigation of the structure, distribution, and evolution of SINEs in the grass family by analyzing 14 grass and 5 other flowering plant genomes using comparative genomics methods. We identify 61 SINE families composed of 29,572 copies, in which 46 families are first described. We find that comparing with other grass TEs, grass SINEs show much higher level of conservation in terms of genomic retention: The origin of at least 26% families can be traced to early grass diversification and these families are among most abundant SINE families in 86% species. We find that these families show much higher level of enrichment near protein coding genes than families of relatively recent origin (51%:28%), and that 40% of all grass SINEs are near gene and the percentage is higher than other types of grass TEs. The pattern of enrichment suggests that differential removal of SINE copies in gene-poor regions plays an important role in shaping the genomic distribution of these elements. We also identify a sequence motif located at 3' SINE end which is shared in 17 families. In short, this study provides insights into structure and evolution of SINEs in the grass family.

SINE_scan: an efficient tool to discover short interspersed nuclear elements (SINEs) in large-scale genomic datasets.

Motivation: Short Interspersed Nuclear Elements (SINEs) are transposable elements (TEs) that amplify through a copy-and-paste mode via RNA intermediates. The computational identification of new SINEs are challenging because of their weak structural signals and rapid diversification in sequences. Results: Here we report SINE_Scan, a highly efficient program to predict SINE elements in genomic DNA sequences. SINE_Scan integrates hallmark of SINE transposition, copy number and structural signals to identify a SINE element. SINE_Scan outperforms the previously published de novo SINE discovery program. It shows high sensitivity and specificity in 19 plant and animal genome assemblies, of which sizes vary from 120 Mb to 3.5 Gb. It identifies numerous new families and substantially increases the estimation of the abundance of SINEs in these genomes. Availability and Implementation: The code of SINE_Scan is freely available at http://github.com/maohlzj/SINE_Scan , implemented in PERL and supported on Linux. Contact: wangh8@fudan.edu.cn. Supplementary information: Supplementary data are available at Bioinformatics online.

On the origin and evolution of plant brassinosteroid receptor kinases.

Brassinosteroid (BR) signaling pathway is so far the best-understood receptor-kinase signaling pathway in plants. In Arabidopsis, the activation of this pathway requires binding of BRs to the receptor kinase BRASSINOSTEROID-INSENSITIVE I (AtBRI1). Although the function of AtBRI1 has been extensively studied, it is not known when the binding function emerged and how this important component of BR signaling pathway and related genes (the BRI1-BRL gene family) have evolved in plants. We define BRI1-BRL genes in sequenced plant genomes, construct profiles for critical protein domains, scan them against all accessible plant gene/EST resources, and reveal the evolution of domain configuration of this family. We also investigate its evolutionary pattern through phylogenetic analysis. The complete BR receptor domain configuration originates through two domain gain events in the ancestral receptor-like kinase: first juxtamembrane domain gained during the early diversification of land plants, and then island domain (ID) acquired in the common ancestor of angiosperms and gymnosperms after its divergence from spike moss. The 70 amino acid ID has characteristic sequences of BRI1-BRL family and this family keeps relative stable copy numbers during the history of angiosperms and the majority of duplications and losses have occurred in terminal taxa in current taxon sampling. This study reveals important events shaping structural and functional characteristics of plant BR receptors. It answers the question of how and when BR receptors originates, which provide insights into the origin and evolution of the BR signaling pathway.