Advances of NOTCH2NLC Repeat Expansions and Associated Diseases: A Bibliometric and Meta-analysis.

The unclear pathogenic mechanisms of neurodegenerative disorders stemming from NOTCH2NLC GGC repeat expansions drive focused research. Thus, a bibliometric and meta-analysis was conducted to uncover research trends and positivity rates in NOTCH2NLC. We conducted systematic searches in the Web of Science, PubMed, Embase, and Scopus databases for studies related to NOTCH2NLC up until August 2, 2023. Information regarding countries, institutions, authors, journals, and keywords of studies included in the Web of Science was analyzed and visualized. The positivity rates of NOTCH2NLC GGC repeat expansions across all screened patients and patients' families were pooled under the random-effects model. Publication bias and its impact were examined using funnel plots, Egger's linear regression, and trim-and-fill method. The bibliometric analysis, revealing pronounced publication growth, comprised 119 studies, which came from China and Japan particularly. "Neuronal intranuclear inclusion disease" emerged as a frequently used keyword. The meta-analysis comprised 36 studies, indicating global positivity rates of 1.79% (95% CI, 0.75-3.17) for all patients and 2.00% (95% CI, 0.26-4.78) for patients' families. Subgroup analyses based on region and phenotype suggested the highest NOTCH2NLC positivity rates in Taiwan population (5.42%, 95% CI 0.08-16.89) and in leukoencephalopathy-dominant patients (8.25%, 95% CI, 3.01-15.60). Sensitivity analysis affirmed the robustness of results. In conclusion, NOTCH2NLC GGC repeat expansions exhibit rare globally, primarily in East Asia, and leukoencephalopathy-dominant patients, emphasizing regional and phenotypic distinctions. Emerging focal points in NOTCH2NLC researches underscore the need for collaborative exploration.

Research progress of ferroptosis in Parkinson's disease: a bibliometric and visual analysis.

Background: In recent years, the role of ferroptosis in Parkinson's disease (PD) has become a research hotspot based on evidence of abnormal iron deposition and lipid peroxidation damage in the brains of PD patients. This study aims to examine the relevant research on ferroptosis and PD from a bibliometric perspective. Methods: Original research and review articles related to ferroptosis and PD were retrieved from the Web of Science Core Collection (WOSCC) database. Statistical analysis and visualization of information including countries, institutions, authors, journals, and keywords of the included studies were conducted using the R software package "bibliometrix." Results: A total of 414 articles met the inclusion criteria, averaging 37.86 citations per article. From 2012 to 2022, the average annual growth rate of research in this area was 63.44%. The corresponding authors of published articles were mainly affiliated with institutions in China, the United States, and Australia. Shanghai Jiao Tong University in China and the University of Melbourne in Australia emerged as the most active and influential institutions. The journal with the highest H-index and publication output was Free Radical Biology and Medicine. "Ferroptosis," "immunotherapy," "prognosis" and "microenvironment" were identified as high-frequency keywords, indicating current and future research directions in this field. Conclusion: This bibliometric study provides insights into current research hotspots and emerging trends in the growing field of ferroptosis research related to PD. The high-frequency keywords identified highlight active areas of investigation involving methods, mechanisms, and populations of interest.

Neurofilament light chain as a mediator between LRRK2 mutation and dementia in Parkinson's disease.

Elevated neurofilament light chain (NfL) levels have been associated with dementia in idiopathic Parkinson's disease (iPD). To examine the baseline and longitudinal changes in NfL levels in GBA-PD, SNCA-PD, and LRRK2-PD and further investigate the association between these genetic mutations, NfL, and dementia in PD. We analyzed data from the Parkinson's Progression Markers Initiative (PPMI), including 184 healthy controls (HC) and 617 PD categorized as iPD (n = 381), LRRK2-PD (n = 142), GBA-PD (n = 76) and SNCA-PD (n = 18). Analysis of covariance (ANCOVA) or linear mixed-effect models were used to compare the baseline or dynamic NfL levels between groups. We then explored the relationship between genetic mutations, serum NfL levels, and conversion to dementia using mediation analysis. After adjusting for confounding factors, SNCA-PD exhibited higher baseline serum NfL levels than iPD. Regarding longitudinal changes, SNCA-PD showed the highest increase rate in estimated NfL levels (2.43 pg/mL per year), while LRRK2-PD experienced the slowest increase rate (0.52 pg/mL per year). Mediation analysis indicated that higher estimated NfL level changes were associated with faster cognitive decline (ß = 0.591, p = 0.026). Specifically, the relationship between LRRK2 and dementia was mediated by the estimated NfL level change (ß = -0.717, p < 0.05). Longitudinal changes in serum NfL levels may serve as a biomarker for cognitive decline in Parkinson's disease. Moreover, compared to iPD, the slower progression of dementia in LRRK2-PD may be partially attributed to a slower increase in NfL levels.

Preparation and mechanical optimization of a two-layer silk/magnesium wires braided porous artificial nerve guidance conduit.

Peripheral nerve injures have long been a tricky problem in surgery and a feasible treatment is the transplantation of nerve guidance conduits (NGCs). This study presents a two-layer composite NGC with fair mechanical properties and good biocompatibility. The inner layer was made of degummed silk yarns/magnesium wires using braiding technology, and the outer layer was made from mixed solution of silk fibroin/chitosan (SF/CS) using freeze-drying treatment. Orthogonal experimental design was applied to rationally design the braided structural layer and obtain the optimal combination of technical process parameters. Meanwhile, the SF/CS porous outer layer was optimized from three concentrations of SF/CS solution. In vitro and in vivo study suggested that the textile-forming scaffold exhibited good biocompatibility and no toxicity. During 4 weeks' degradation, the skeleton of conduits retained its shape, and magnesium ions released from degraded magnesium wires contributed to sustainable release and uniform dispersion, proliferation and adhesion of Schwann cells, indicating potential approach in the development of NGCs.

Implantable nerve guidance conduits: Material combinations, multi-functional strategies and advanced engineering innovations.

Nerve guidance conduits (NGCs) have attracted much attention due to their great necessity and applicability in clinical use for the peripheral nerve repair. Great efforts in recent years have been devoted to the development of high-performance NGCs using various materials and strategies. The present review provides a comprehensive overview of progress in the material innovation, structural design, advanced engineering technologies and multi functionalization of state-of-the-art nerve guidance conduits NGCs. Abundant advanced engineering technologies including extrusion-based system, laser-based system, and novel textile forming techniques in terms of weaving, knitting, braiding, and electrospinning techniques were also analyzed in detail. Findings arising from this review indicate that the structural mimetic NGCs combined with natural and synthetic materials using advanced manufacturing technologies can make full use of their complementary advantages, acquiring better biomechanical properties, chemical stability and biocompatibility. Finally, the existing challenges and future opportunities of NGCs were put forward aiming for further research and applications of NGCs.