Search Results (171)

Background/Objectives: As a global chromatin organizer, SATB1 is increasingly implicated in neurodevelopmental disorders (NDDs). This study aims to delineate the clinical and molecular characteristics of a novel de novo SATB1 variant in a patient presenting with epilepsy-dominant NDDs phenotypes. Methods: Triggered by the onset of seizures, trio-based whole-exome sequencing (Trio-WES) was performed to identify the genetic etiology. Subsequent sleep electroencephalogram (EEG) and magnetic resonance imaging (MRI) were then conducted to further characterize the patient’s clinical phenotypes. Pathogenicity was assessed through structural modeling and functional characterization. Nonsense-mediated mRNA decay (NMD) status, protein expression profiles, and subcellular localization were determined by reverse-transcription quantitative PCR (RT-qPCR), Western blotting, and immunofluorescence staining. The transcriptional regulatory impacts of the variant were quantified using dual-luciferase reporter system targeting known downstream regulatory elements. Clinical responses to antiepileptic intervention was also monitored. Results: We identified a novel de novo heterozygous pathogenic frameshift variant in SATB1 (NM_002971.5: c.1718_1719insCA; p.Val574Argfs*134) in a patient presenting with early-onset epilepsy, mild intellectual developmental disorder (IDD), speech delay, and dental anomalies. Functional assays demonstrated that the variant-derived transcript escaping NMD, yielding a truncated protein that forms irregular punctate aggregates within nuclei. Dual-luciferase assays revealed significantly increased transcriptional activity, indicating a loss of the protein’s innate transcriptional regulatory capacity. Clinically, treatment with sodium valproate (VPA) successfully stabilized seizures of the patient, markedly reducing both frequency and intensity. Conclusions: The study reports a novel SATB1 frameshift variant that exerts pathogenicity significant functional impairment by disrupting protein localization and transcriptional regulation. These findings expand the genetic spectrum of SATB1-related NDDs and underscore the efficacy of targeted antiepileptic management in genetic diseases. Full article

Fragile X Syndrome (FXS) is an inherited cause of intellectual disability and autism, arising from silencing of the Fmr1 gene and loss of Fragile X Messenger Ribonucleoprotein 1 (FMRP). FMRP is an RNA-binding protein critically involved in neurodevelopmental processes, including neurogenesis. We examined the proliferation and maturation of adult-born dentate granule cells (abDGCs) and glial populations in Fmr1 knockout (KO) and wild-type (WT) mice at 4, 12, and 24 weeks of age under control and early-life stress (ELS) conditions. Based on prior findings, we hypothesized that KO mice would exhibit increased neurogenesis and atypical responses to ELS compared with WT mice. Using immunohistochemistry, we quantified multiple stages of neurogenesis in the dentate gyrus, including proliferating (Ki67+), immature (doublecortin [DCX]+), and apoptotic (cleaved caspase-3 [CC3]+) cells. We also assessed glia using Iba1 (microglia) and GFAP (astrocytes) immunoreactivity. KO mice displayed significantly increased Ki67+ proliferating and reduced CC3+ apoptotic cells across ages, accompanied by increased Iba1+ and GFAP+ glial densities. However, KO mice exhibited fewer DCX+ neuroblasts at later time points. When reared in ELS conditions, KO mice show blunted or no changes in neurogenesis and glial populations relative to WT mice reared in ELS conditions or KO mice in control conditions. These results indicate that FMRP loss disrupts hippocampal neurogenesis by increasing cell proliferation while limiting neuronal maturation and expanding glial populations. Moreover, the absence of neurogenic and glial responses to ELS in KO mice highlights a gene–environment interaction that may influence FXS-related neuropathology by limiting the adaptive capacity of the hippocampal neurogenic niche. Full article

Pollution by persistent organic pollutants (POPs) constitutes an environmental and public health crisis of planetary scale due to their toxicity, persistence, and capacity for bioaccumulation in ecosystems. Given the limitations of conventional methods, which are often costly or generate hazardous byproducts, advanced oxidation processes (AOPs) have emerged as critical alternatives for the terminal destruction of these compounds. However, a persistent gap remains between laboratory-scale innovations and their real industrial application. To address this issue, the study employs a systematic and quantitative bibliometric analysis of the scientific literature produced between 2000 and 2026. A total of 5911 documents indexed in Scopus were analyzed using specialized tools such as R Studio (bibliometrix) 2026.04.0+526 and VOSviewer (1.6.20) to map productivity, impact, and the intellectual structure of the field through co-occurrence networks and international collaboration. The results demonstrate exponential growth in research, with an annual rate exceeding 18%. China leads scientific production with 109 publications, while Spain and France record the highest impact per article, with averages of 217.5 and 213.5 citations respectively, underscoring the influence of their researchers as theoretical and methodological benchmarks. Authors such as Malato (Spain) and Oturan (France) act as central nodes of international collaboration, accumulating thousands of citations in areas such as solar photocatalysis and electro-Fenton processes. The analysis confirms that solar photocatalysis and electrochemical processes are the most effective AOP families, consistently reporting degradation efficiencies above 85–90%. Wastewater treatment is identified as the primary research driver, while advanced catalyst design has evolved into a niche technical specialization. Journals such as Chemosphere and Science of the Total Environment have consolidated as the main dissemination channels for this research. Full article

The design of low-emission alternative-propulsion aircraft requires multidisciplinary collaboration across distributed academic and industrial environments, challenging the applicability of conventional Multidisciplinary Design Analysis and Optimization (MDAO) frameworks. This paper presents the Holistic Collaborative MDAO Selection (HCMS) methodology, which provides a structured approach for selecting MDAO architectures based on socio-technical feasibility (intellectual property protection, disciplinary autonomy, and IT governance) and computational feasibility (coupling strength and model fidelity). The methodology supports a transition from centralized to distributed workflows while ensuring secure and efficient cross-organizational integration. The approach is demonstrated through a multi-institutional case study of a dual-fuel (hydrogen and kerosene) business jet using Remote Component Environment (RCE) and Common Parametric Aircraft Configuration Schema (CPACS). Results demonstrate that the proposed methodology enables stable and scalable distributed MDAO execution while explicitly accounting for socio-technical constraints, with consistent convergence behavior and communication overhead (approximately 25 s per iteration) remaining small relative to disciplinary computation time. The case study further illustrates the impact of hydrogen integration, showing an increase in operating empty weight of approximately 14.06% for a 600 NM mission and a reduction in kerosene capacity of approximately 12.9%, while enabling hydrogen-powered operation for the primary mission segment. These findings confirm that the proposed framework effectively supports secure, collaborative MDAO under realistic socio-technical constraints while providing meaningful system-level design insights. Full article

Geopolitical volatility and conflict are increasingly altering the operating conditions of maritime transport by affecting route feasibility, service reliability, port operations, regulatory compliance, and energy-related decisions. However, the relevant literature remains fragmented across smart port studies, shipping optimization research, cybersecurity analysis, and resilience-oriented discussions. This review addresses that fragmentation by examining smart port and shipping optimization as interdependent components of maritime resilience rather than as separate efficiency-oriented domains. Methodologically, the paper adopts a structured, semi-systematic review design combining bibliometric mapping and thematic synthesis to identify the evolution, thematic structure, and major research gaps of the field. The review shows that smart port research highlights the resilience value of real-time visibility, interoperable data exchange, dynamic terminal control, digital twins, and cyber-secure infrastructure, while shipping-optimization research emphasizes conflict-aware routing, schedule recovery, network redesign, capacity reallocation, and fuel-related decision support. At the same time, the literature provides only limited integration across the port–shipping interface, where resilience is actually produced through coordination between nodes, networks, and governance arrangements. Based on this synthesis, the paper argues that future research should move beyond isolated technical solutions and develop more integrated approaches that jointly address digitalization, operational adaptation, security, and decarbonization under geopolitical stress. The review contributes by clarifying the intellectual structure of this emerging field and by proposing a more system-oriented perspective on maritime resilience. Full article

Environmental economics and policy research has paid limited attention to interfirm spillover effects on firm-level performance. This study addresses this gap by distinguishing between the direct and spillover effects of environmental regulation and firm-specific resources on firm performance. Using panel data for Korean manufacturing firms, we estimate a dynamic spatial Durbin model (SDM) that accounts for both temporal persistence and spatial dependence. The empirical results provide clear evidence. First, environmental regulation and firm-specific factors—including intellectual capital, physical capital, and organizational slack—exert statistically significant positive direct effects on firms’ sustainable growth rate (SGR). Second, interaction effects are crucial: environmental regulation significantly enhances SGR when combined with organizational slack, highlighting the importance of internal resource conditions. Third, spatial spillover effects are identified only under specific configurations. Environmental regulation generates positive spillover effects when interacting jointly with intellectual capital, physical capital, and organizational slack, rather than as an independent driver. Similarly, physical capital produces spillover effects through its interactions with other firm resources. Importantly, these effects vary across firms. Spillover effects are more pronounced in firms with high absorptive capacity, whereas they are weaker or insignificant in firms with low absorptive capacity. Overall, the findings indicate that environmental regulation affects firm performance primarily through resource complementarities and conditional spatial interactions, offering policy implications for more targeted regulatory design Full article

Unmanned Aerial Vehicles (UAVs/drones) have emerged as transformative tools for coastal environmental monitoring, yet the field’s intellectual evolution and operational maturity remain incompletely characterized. This study employs citation network analysis via Litmaps to map the structure, consolidation, and knowledge diffusion patterns of coastal drone research from 2013 to 2024. A corpus of 47 influential articles was identified through systematic citation connectivity criteria, revealing three distinct phases: Seminal (≤2016), Consolidation (2017–2022), and Innovation (≥2023). Results demonstrate that foundational RGB photogrammetry protocols established in 2013–2016 remain standard references in 2024, indicating methodological maturity rather than obsolescence. However, substantial geographic concentration exists (Mediterranean institutions dominate early development), with application imbalances: temporal monitoring (46.8%) dominates while policy-relevant erosion/risk assessment comprises only 8.5%. Despite documented technical adequacy (sub-centimeter accuracy, 70–80% cost reduction vs. alternatives), the transition to operational coastal programs faces institutional rather than technological barriers. The analysis concludes that realizing UAV operational potential requires coordinated institutional development across management agencies, research institutions, capacity-building programs, and equitable data governance frameworks. Full article

Systematic reviews and meta-analyses have become essential infrastructure for translating agricultural research into actionable knowledge; yet the field’s developmental trajectory and intellectual structure remain poorly characterized. This study presents a bibliometric analysis of 1709 evidence synthesis publications in agricultural sciences from 1997 to 2023, examining growth dynamics, collaboration, thematic evolution, and geographic specialization. The results show exponential growth of 29% annually, with a 2018 inflection point marking the transition from emerging methodology to mainstream practice. Meta-analyses, comprising 75% of publications and accelerating earlier (2017) than systematic reviews (2019), have primarily driven this expansion as an accessible quantitative approach. Evidence synthesis is highly collaborative, with 59% multi-country authorship sustained across 97 countries and regions. Topic modeling identified 14 core themes spanning soil carbon, climate change, crop management, technology adoption, and sustainable agriculture, with thematic shifts from production-focused topics toward climate and sustainability priorities aligned with post-2015 policy agendas. Strategic diagram analysis revealed a linear structure linking topic maturity and centrality, indicating exceptional integration distinct from the fragmentation typical of other domains. Revealed comparative advantage (RCA) analysis showed geographic specialization aligned with national agricultural contexts, though the concentration of synthesis capacity raises equity concerns about whose systems and questions are represented. Overall, agricultural evidence synthesis has matured into a globally connected, policy-responsive knowledge network; yet sustaining growth will require institutional support, methodological rigor, and pathways that translate synthesis into practice impact. Full article

The study of resilience has long focused on understanding how individuals positively adapt to adversity, a process that directly influences emotional stability. Resilience, defined as the capacity to confront, overcome, and transform complex challenges constructively while strengthening oneself in the process, represents a transversal trait in human development. It also entails engaging in a personal growth trajectory that fosters self-awareness and internal coherence. Within the context of high abilities, this construct assumes particular significance, as students with high cognitive potential, but they are not immune to socio-emotional and educational vulnerabilities. These vulnerabilities may arise from asynchronies between intellectual and emotional development, among other factors, and influence specific coping strategies that, in turn, affect academic and social outcomes. Furthermore, high abilities students often have unique educational needs that may be insufficiently recognized or supported within their socio-cultural environments. Consequently, resilience in high abilities students should be understood as a dynamic process shaped not only by individual cognitive resources but also by contextual factors. A thorough analysis of the specific vulnerabilities of this population, and their interactions with environmental influences, is essential for fostering resilience and designing psychoeducational interventions that enhance academic achievement, promote inclusive practices, and support overall well-being. Full article

Articular cartilage is a highly specialized connective tissue essential for joint function, providing load-bearing capacity, shock absorption, and near-frictionless motion. Due to its avascular nature, articular cartilage has a limited intrinsic healing capacity, and focal injuries often progress to degenerative joint diseases such as osteoarthritis, leading to chronic pain and functional impairment. This review examines current and emerging scientific, clinical, and technological strategies for articular cartilage repair and regeneration, with particular emphasis on their translational relevance. This narrative review integrates data from peer-reviewed literature, clinical trial registries, and patent databases. Preclinical and clinical approaches are discussed, including orthobiologics, cell-based therapies, advanced biomaterials, and three-dimensional tissue-engineered scaffolds. Bibliometric and keyword network analyses are used to identify dominant research themes, technological trends, and emerging innovations. The findings reveal a clear paradigm shift from conventional surgical interventions, often associated with fibrocartilage formation and suboptimal biomechanical performance, to multifactorial regenerative strategies combining cells, bioactive signals, and biomimetic scaffolds designed to recapitulate the native extracellular matrix. This convergence of regenerative medicine, tissue engineering, and biomaterials science is reflected in growing clinical translation efforts and intellectual property activity. Overall, although articular cartilage repair remains a significant clinical challenge, integrated regenerative approaches show great potential for achieving durable and functional cartilage regeneration. Full article

Background: Intellectual disability limits physical activity, affecting health and quality of life. Efficient tests to assess cardiorespiratory fitness in adapted football are essential. The Six-Minute Walk Test (6MWT) is a widely used benchmark test but can be logistically challenging. Although alternative tests such as the Sit-to-Stand Test (STST), Chester Step Test (CST), and Two-Minute Step Test in Place (2MST) have been validated in other populations, no study has examined their relationship with the 6MWT specifically in football players with intellectual disability, a population with unique physiological and cognitive characteristics. Therefore, this study reports the convergent validity between the 6MWT and these alternative field tests and describes the physiological responses to each test in football players with intellectual disability. Methods: Forty-two adult male football players with intellectual disability (mean age 27.1 ± 5.6 years) completed the 6MWT, STST, CST and 2MSPT. Physiological parameters, including heart rate, oxygen saturation (SpO₂), and systolic and diastolic blood pressure, were recorded before and after each test. Pearson’s correlation coefficients were calculated to assess relationships among tests. Results: Strong, significant correlations were found between the 6MWT and the STST (r = 0.711), CST (r = 0.724), and 2MSPT (r = 0.683) (all p < 0.001). All tests induced expected changes in heart rate, blood pressure and oxygen saturation. Conclusions: The STST, CST and 2MSPT showed strong associations with the 6MWT and may serve as practical, safe and efficient complementary tools for field-based assessment of cardiorespiratory fitness in this population. These findings apply specifically to adult male football players with intellectual disability and should not be generalized to other populations with intellectual disability. Full article

Individuals with Intellectual Disabilities (ID) often exhibit reduced physical fitness, leading to early declines in the ability to perform daily activities. This study aimed to characterize and establish reference values for physical functional performance by sex and age group in school-aged children with ID. A total of 321 participants (ages 5–26 years) from special education schools were assessed. Physical functional performance was measured using the 4 × 10 m shuttle run (4 × 10 m), Timed Up and Go (TUG), Five-Repetition Sit-to-Stand Test (5R-STS), and Countermovement Jump (CMJ). Two-way ANOVA, Kruskal–Wallis tests, and percentile values (5th–95th) were calculated by sex and age group. Males consistently demonstrated higher performance than females. Cross-sectional comparisons showed higher 4 × 10 m, TUG, and 5R-STS performance during adolescence in both sexes, while CMJ performance was higher in males during early adulthood. Adolescents outperformed children in 4 × 10 m, TUG, and CMJ tests (p < 0.05). Females exhibited lower 4 × 10 m and CMJ performance in early adulthood compared with adolescence (p < 0.05), whereas males showed no significant differences across these stages. Physical functional performance in individuals with ID varied according to sex and age, with males generally demonstrating better performance. Adolescence is associated with higher performance, while females experience reductions in lower-limb power in early adulthood. These findings highlight sex- and age-related differences and support the need for targeted monitoring and intervention strategies in this population. Full article

Supporting employment for people with intellectual disabilities is essential for their social inclusion and psychological well-being. Previous studies have explored how social enterprises facilitate employment for this group. However, relatively little attention has been given to family-driven social enterprises, particularly the behavioral motivations and mechanisms through which parents create inclusive work opportunities for their adult children. This exploratory single-case study investigates why and how parents engage in social entrepreneurship to support individuals with intellectual disabilities. Findings show that parents dynamically mobilize human and material capital, driven by both egoistic and altruistic motives. Meanwhile, the enterprise gradually evolved from an informal initiative into a more structured organization. Employment inclusion emerged as the primary outcome, enabled by knowledge acquisition and capacity building, with social empowerment as a broader benefit. The study contributes by identifying dual parental motivations, extending resource bricolage to family-driven social entrepreneurship, and reconceptualizing bricolage as a strategic management of human and material capital. Full article

This article argues that Thomas Kuhn’s The Structure of Scientific Revolutions developed a historicized and developmental account of cognition in which scientific transformation depends on encounters with what is not yet discernible within existing conceptual frameworks. Drawing on Kuhn’s early writings and archival materials, the study situates his thought within a transatlantic intellectual lineage that includes William James, Susanne K. Langer, Jean Piaget, Michael Polanyi, and Ludwik Fleck, as well as anti-foundational models of inquiry associated with Otto Neurath. Kuhn’s notion of a “fringe of vague meaning” designates a cognitive condition in which non-objects exert directive force prior to conceptual articulation. Indiscernibility is not treated as subjective confusion or phenomenological experience but as a historically situated and socially mediated phase of cognitive reorganization. Scientific revolutions, like religious transformations in domains that permit conceptual reorganization, share a common cognitive structure: both depend on the capacity to dwell within indiscernibility long enough for new structures of intelligibility to form. By historicizing the invisible, Kuhn offers a post-holistic account of transformation grounded in developmental cognition, symbolic mediation, and collective inquiry rather than metaphysical unity. Full article

Amid intensifying global competition, key core technology breakthroughs have become central to advancing technological self-reliance and strengthening national productive capacity. Using panel data on Chinese A-share listed firms from 2011 to 2023, we adopt a difference-in-differences framework to identify the effect of digital–intelligence policy synergy on firm-level key core technology breakthroughs. The empirical results show that digital–intelligence policy synergy significantly promotes firms’ key core technology breakthroughs, and this finding remains robust to a battery of robustness checks, including a double machine learning approach. Mechanism analyses indicate that digital–intelligence policy synergy promotes breakthroughs through three channels: deeper technology convergence between the digital economy and the real economy, improved industry–research compatibility, and the accumulation of human capital trained for digital–intelligence. Heterogeneity analyses further suggest that the effect is more pronounced among state-owned enterprises, firms in strategic emerging industries, and firms located in regions with stronger intellectual property protection. Overall, this study offers empirical evidence that orchestrating policy synergies is critical for fostering an innovation ecosystem conducive to technological self-reliance. Full article