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To use functional near-infrared spectroscopy (fNIRS) to identify changes in brain activity during tibial nerve stimulation (TNS) in patients with overactive bladder (OAB) responsive to therapy. Eighteen patients with refractory idiopathic OAB patients were recruited consecutively for this pilot study. At baseline, all patients completed 3 days voiding diary, Quality-of-Life score, Perception-of-Bladder-Condition, and Overactive-Bladder-Symptom score. Then 4 region-of-interest (ROI) fNIRS scans with 3 blocks were conducted for each patient. The block design was used: 60 s each for the task and rest periods and 3 to 5 repetitions of each period. A total of 360 s of data were collected. During the task period, patients used transcutaneous tibial nerve stimulation (TTNS) of 20-Hz frequency and a 0.2-millisecond pulse width and 30-milliamp stimulatory current to complete the experiment. The initial scan was obtained with a sham stimulation with an empty bladder, and a second was obtained with a verum stimulation with an empty bladder. Patients were given water till strong desire to void, and the third fNIRS scan with a verum stimulation was performed. The patients then needed to urinate since they could not tolerate the SDV condition for a long time. After a period of rest, the patients then were given water until they exhibited SDV state. The fourth scan with sham fNIRS scan in the SDV state was performed. NIRS_KIT software was used to analyze prefrontal activity, corrected by false discovery rate (FDR,  < 0.05). Statistical analyses were performed using GraphPad Prism software;  < 0.05 was considered significant. TTNS treatment was successful in 16 OAB patients and unsuccessful in 2. The 3 days voiding diary, Quality-of-Life score, Perception-of-Bladder-Condition, and Overactive-Bladder-Symptom score were significantly improved after TNS in the successfully treated group but not in the unsuccessfully treated group. The dorsolateral prefrontal cortex (DLPFC) (BA 9, Chapters 25 and 26) and the frontopolar area (FA) (BA 10, Chapters 35, 45, and 46) were significantly activated during TNS treatment with an empty bladder rather than with an SDV. Compared with the successfully treated group, the unsuccessfully treated group did not achieve statistical significance with an empty bladder and an SDV state. fNIRS confirms that TNS influences brain activity in patients with OAB who respond to therapy. That may be the central mechanism of action of TNS.

Optogenetics is a rapidly developing field combining optics and genetics, with promising applications in neuroscience and beyond. However, there is currently a lack of bibliometric analyses examining publications in this area. Publications on optogenetics were gathered from the Web of Science Core Collection Database. A quantitative analysis was conducted to gain insights into the annual scientific output, and distribution of authors, journals, subject categories, countries, and institutions. Additionally, qualitative analysis, such as co-occurrence network analysis, thematic analysis, and theme evolution, were performed to identify the main areas and trends of optogenetics articles. A total of 6,824 publications were included for analysis. The number of articles has rapidly grown since 2010, with an annual growth rate of 52.82%. Deisseroth K, Boyden ES, and Hegemann P were the most prolific contributors to the field. The United States contributed the most articles (3,051 articles), followed by China (623 articles). A majority of optogenetics-related articles are published in high-quality journals, including NATURE, SCIENCE, and CELL. These articles mainly belong to four subjects: neurosciences, biochemistry and molecular biology, neuroimaging, and materials science. Co-occurrence keyword network analysis identified three clusters: optogenetic components and techniques, optogenetics and neural circuitry, optogenetics and disease. The results suggest that optogenetics research is flourishing, focusing on optogenetic techniques and their applications in neural circuitry exploration and disease intervention. Optogenetics is expected to remain a hot topic in various fields in the future.

[This corrects the article DOI: 10.3389/fnins.2023.1221316.].

Objective Fused in Sarcoma (FUS), an RNA-binding protein implicated in gene expression regulation and DNA damage repair, demonstrates abnormal overexpression in multiple malignancies. Its functional significance in Renal Cell Carcinoma (RCC) pathogenesis remains poorly characterized. Methods We employed bioinformatics analysis to assess FUS prognostic value, complemented by in vitro and in vivo functional studies to evaluate its phenotypic impact on RCC. Protein interactors were identified through Co-Immunoprecipitation (Co-IP), with mechanistic insights derived from flow cytometry and immunofluorescence assays. Results Clinical RCC specimens exhibited significantly elevated FUS expression compared to adjacent normal tissues ( p  < 0.01). Both cellular models and xenograft experiments demonstrated that FUS overexpression potentiated RCC proliferation, invasion, and metastatic capacity, whereas FUS knockdown suppressed tumorigenic progression. Mechanistically, FUS promoted RCC advancement by attenuating apoptosis and inducing Epithelial-Mesenchymal Transition (EMT). Further investigation revealed FUS interaction with KCMF1 and CENPT, forming a pro-oncogenic signaling axis. KCMF1 overexpression facilitated FUS nuclear translocation, enhancing its binding to CENPT mRNA and subsequent CENPT upregulation. As a core centromere protein, the upregulation of CENPT can induce abnormal chromosome segregation, leading to genomic instability. This feature is associated with a higher recurrence rate, shorter survival time, and distant metastasis in RCC patients. The JNK (c-Jun N-terminal Kinase) signaling also plays a key role in driving malignant progression. Conclusion The KCMF1/FUS/CENPT axis promotes RCC growth and metastasis via a non-proteasomal mechanism coupled with JNK pathway activation. These findings position FUS as a potential diagnostic biomarker and therapeutic target in RCC management.

Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing. The patient exhibited an atypical disease progression compared with typical TH‐associated DRD cases, presenting with generalized dystonia, episodic hypotonia, Parkinsonism, and oromandibular dyskinesias. These findings, including the first known documented deep intronic TH variant, expand our understanding of TH‐associated DRD's phenotypic and genotypic spectrum, aiding clinical evaluation.

Background To assess the inter-observer and intra-observer reliability of the magnetic resonance urography (MRU)—upper urinary tract dilation (UUTD) grading system. Methods A total of 40 patients with a diagnosis of NB were enrolled in this study. The images were assembled in an electronic presentation randomly. The presentations were reviewed and graded by 4 junior and 4 senior urologists. One week later, the images were randomized again and reassessed. The inter-observer reliability was estimated by Kendall’s coefficient of concordance and intra-class correlation coefficient (ICC), and the intra-observer reliability was estimated by weighted Cohen’s kappa. Results The inter-observer reliability strength was excellent for all urologists, with the ICC value of 0.939 (0.908–0.963) and Kendall’s W value of 0.967. The highest agreement was shown in Grade 4 at 92.50%, and the lowest in Grade 2 at 82.14%. All disagreements were within one grade of difference. Moreover, the Intra-observer reliability was excellent, with the weighted kappa value ranging from 0.904 to 0.954. Conclusions The inter-observer and intra-observer reliability of this novel MRU-UUTD grading system is confirmed, providing adequate evidence for broader clinical application.

Background The presence of more than one polyQ‐related gene within a single individual is a rare incidence, which may provide the potential opportunity to study the combined effects of these spinocerebellar ataxia (SCA) genes. Methods We retrospectively analyzed genetic data from 112 SCA3 probands and found Patient 1 harbored expanded ATXN2 allele (33 repeats) and intermediate TBP allele (41 repeats), and Patient 2 with intermediate ATXN2 allele (32 repeats). Detailed clinical and oculomotor performances were investigated. The age at onset and oculomotor parameters of both patients were compared with matched pure SCA3 groups controlling either disease severity or CAG repeats. Results Most of the clinical phenotypes and oculomotor characteristics of these two patients were common to typical SCA3 patients. Compared to pure SCA3 groups controlling disease severity, mild reduced horizontal saccade velocity could be detected in both patients. However, mild expansions of the ATXN2 allele seemed to have no influence on the age at onset of Patient 1 but might have a mild impact on Patient 2. Conclusion Our study provides supporting evidence that mild expansions of ATXN2 may have modifying effects on SCA3 phenotype. Larger control series and longitudinal data are warranted to confirm our results. We identified the unique co‐occurrence of expansions in three different SCAs, types 2, 3, and 17. Our study provides supporting evidence that mild expansions of ATXN2 may have modifying effects on SCA3 phenotype, suggesting that there are biological relationships among these genes.

Objectives: There are limited pharmacological treatments for patients with neurological Wilson’s disease (WD) and a history of copper-chelating treatment failure. Methods: We retrospectively evaluated the clinical records of 38 patients with WD who were treated with sodium dimercaptopropanesulfonate (DMPS) and zinc (group 1) or zinc alone (group 2). All patients had a history of neurological deterioration during their previous treatment with D-penicillamine (DPA). Results: Twenty-one patients were treated with intravenous DMPS for 4 weeks, followed by zinc gluconate for 6 months, and the treatment protocol was repeated twice. Relative to the baseline, repeated DMPS therapy and zinc maintenance therapy decreased neurological scores continuously (p < 0.01). Sixteen patients (76.2%) demonstrated neurological improvements after 1 year of therapy and four patients (19.0%) exhibited neurological deterioration at the follow-up session. In addition, 17 patients were treated with zinc monotherapy for 12 months. Two patients (11.8%) demonstrated neurological improvements and five patients (29.4%) exhibited neurological deterioration. Compared with the patients in group 2, a greater improvement ratio (p < 0.01) and lower deterioration ratio (p < 0.01) were observed in the patients in group 1 after 1 year of therapy. Conclusions: Our findings indicate that the safety and efficacy of combined treatment of DMPS and zinc is superior to those of zinc monotherapy in patients with neurological WD with a history of DPA treatment failure.

Globally, China is among the countries most severely affected by natural disasters. Understanding the spatial and temporal distribution characteristics of natural hazard events on a spatial and temporal scale can help understand natural hazard risks more comprehensively. However, there remains a lack of research on spatiotemporal clustering relationship analysis of multi-hazard natural disasters and the co-occurrence relationship between different natural hazard events and spatial locations. In this study, we obtained the geographic text of natural disaster events in China from 2008 to 2021 mined from news, extracted the spatiotemporal information of natural disaster types and situations, and introduced the theory of spatiotemporal scanning statistics and co-occurrence network relationships. The results showed that (1) information on the location, time, and intensity of attention to disaster events contained in news data is highly correlated with the actual occurrence of disasters. The spatial and temporal characteristics of disasters differ among regions, and 15 natural disasters have high-risk clustering areas with log-likelihood ratio values up to 1016.77 and relative risk values up to 46.95. Seasonal differences exist in the occurrences of different natural disasters, with most occurring frequently from May to August. (2) The association rules mining disaster events show that distinct co-occurrence relationships between several hazards are present, and the confidence level of the most frequent item number sets was above 95%. Regardless of meteorological, hydrological, and geological hazards, these interconnected regions were geographically close, and most regions in the spatial association centers of natural hazards were closely connected, showing a pattern of multiple low-frequency regions linked to one high-frequency region, with the strongest connection in southern China, with a frequency of 360, and the weakest connection in Northeast and Northwest China, with a frequency of only single digits. This study can provide a reference for relevant departments to identify natural disaster risks in different regions, formulate disaster risk zoning, and improve their disaster prevention and control capabilities.

Spinocerebellar ataxia (SCA) patients’ reports of their own experiences are essential to the outcome evaluation in clinical trials. To better understand the health condition and well-being of ataxia population, Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia) was developed. The aim of our study was to culturally adapt the PROM-Ataxia into Chinese version and assess its correlation with canonical clinical assessments. We translated the PROM-Ataxia into Chinese following the ISPOR TCA Task Force guidelines and evaluated its correlation with measures of motor ataxia, non-ataxia signs, quality of life, and mental health in 92 Chinese SCA participants. Nearly all the participants found this questionnaire complete and intelligible but some items were found repetitive or ambiguous. The total score of PROM-Ataxia from stage 0 to stage 3 was 23.24 ± 18.53, 79.11 ± 40.45, 144.30 ± 41.30, and 176.20 ± 31.74, respectively ( p < 0.0001 ). It was strongly correlated with the Scale for the Assessment and Rating of Ataxia (SARA) ( r = 0.832, p < 0.0001 ). Physical and activities domain of PROM-Ataxia were correlated with measures of motor ataxia, quality of life, and psychological health while mental health domain was correlated with all the clinical assessments including inventory of non-ataxia signs and cognitive assessment. We translated the PROM-Ataxia into Chinese for the first time, which allows transnational comparability in future studies. Our study validated the responsiveness of PROM-Ataxia to established clinical measures in Chinese SCA patients and implied its potential to evaluate the therapeutic effect and optimize the sensitivity of changes in clinical outcome assessments.