Search Results (8,069)

Objectives: The primary objective was to investigate and compare the effects of three paired-pulse repetitive trans-spinal magnetic stimulation (PP-rTSMS) protocols on balance control and corticospinal network function. Methods: PP-rTSMS (800 pulses, frequency 100 Hz, intensity 70% of the resting motor threshold) was applied over the eighth thoracic vertebra (Th8) in twenty-seven young healthy individuals. Each proband received three verum sessions (using a verum coil with handle oriented (i) cranially, (ii) caudally, and (iii) laterally) and (iv) one sham session (using a sham coil) in a randomised order. Balance ability (Y Balance Test) and corticospinal network functions (motor evoked potentials (MEPs), cortical silent periods (SCPs)) were tested immediately (i) prior to and (ii) after each interventional session. Results: Each verum session induced a significant improvement in balance ability (cranially (F_1,26 = 8.009; p = 0.009; η² = 0.236), caudally (F_1,26 = 4.846; p = 0.037; η² = 0.157), and laterally (F_1,26 = 23,804; p ≤ 0.001; η² = 0.478) oriented grip) as compared to the sham session. In addition, the laterally oriented coil grip was associated with significantly greater balance benefits than both the cranial (F_1,26 = 10.173; p = 0.004; η² = 0.281) and caudal (F_1,26 = 14.058; p ≤ 0.001; η² = 0.351) grip orientations. No significant intervention-induced effects were detected on corticospinal network functions. Conclusions: Our data show that PP-rTSMS effectively supports balance control and that coil orientation significantly influences these effects. Further studies should test variations of this promising approach on healthy and disabled cohorts. Full article

Introduction: Osteoarthritis (OA), a leading cause of disability among the elderly, is characterized by progressive joint tissue destruction. Fucoidan, a sulfated polysaccharide with known anti-inflammatory and antioxidant properties, has been investigated for its potential to protect against interleukin-1 beta (IL-1β)-induced articular tissue damage. Methods: Human primary chondrocytes and synovial fibroblasts were pre-treated with 100 μg/mL fucoidan before stimulation with 1 ng/mL of IL-1β. The protective effects of fucoidan were assessed by measuring oxidative stress markers and catabolic enzyme levels. These in vitro findings were corroborated using a rat anterior cruciate ligament transection-induced OA model. To explore the underlying mechanisms, particularly the interaction between microRNAs (miRs) and heme oxygenase-1 (HO-1), five candidate miRs were identified in silico and experimentally validated. Luciferase reporter assays were used to confirm direct interactions. Results: Fucoidan exhibited protective effects against IL-1β-induced oxidative stress and catabolic processes in both chondrocytes and synovial fibroblasts, consistent with in vivo observations. Fucoidan treatment restored HO-1 expression while reducing inducible nitric oxide synthase and matrix metalloproteinase levels in IL-1β-stimulated cells. Notably, this study revealed that fucoidan modulates the miR-22/HO-1 pathway, a previously uncharacterized mechanism in OA. Specifically, miR-22 was upregulated by IL-1β and subsequently attenuated by fucoidan. Luciferase reporter assays confirmed a direct interaction between miR-22 and HO-1. Conclusion: The results demonstrate that fucoidan mitigates OA-related oxidative stress in chondrocytes and synovial fibroblasts through the novel modulation of the miR-22/HO-1 axis. The miR-22/HO-1 pathway represents a crucial therapeutic target for OA, and fucoidan may offer a promising therapeutic intervention. Full article

Background/Objectives: The calcaneus is the most commonly injured tarsal bone, potentially resulting in long-term functional deficiencies and disability. The type of treatment mainly depends on fracture type and morphology. Treatment of these fractures can be challenging due to a limited soft tissue envelope and is frequently associated with complications. The aim of this study was to classify fracture types and identify factors associated with in-hospital complications. Methods: Patients with calcaneal fractures treated at our level I trauma center between 1997 and 2017 were included. Demographic data, comorbidities, fracture characteristics, type of treatment, complications and revisions, compliance and accompanying injuries were evaluated. Results: A total of 238 patients (m = 163, f = 75) at a mean age of 40 years sustaining either uni- or bilateral calcaneal fracture resulting in a total of 288 calcaneal fractures. Concomitant injuries were present in 103 patients (35.9%). Traumatic spine lesions were present in 21.9%. Complications were recorded in 59 fractures (20.5%). Open fractures were more likely to develop complications (76.0% vs. 15.2%, p < 0.001). Significant complication (33% vs. 14%, p < 0.001) and wound complication rates (29% vs. 10%, p < 0.001) were found in multiple-injured patients. All open fractures were surgically treated on the day of admission. In calcaneal fractures with a Böhler angle below 0 degrees, more complications were seen (33% vs. 17%, p < 0.05). Conclusions: High complication rates following calcaneal fractures were detected, with an increased likelihood in open fractures and in patients with multiple injuries. A negative Böhler angle was associated with worse outcomes. Full article

Ischemic stroke is a primary cause of cerebrovascular diseases and continues to be one of the leading causes of death and disability among patients worldwide. Pathological processes caused by vascular damage due to stroke occur in a time-dependent manner and are classified into three categories: acute, subacute, and chronic. Current treatments for ischemic stroke are limited to effectiveness in the early stages. In this study, we investigated the therapeutic effect of an oriental medicine, Gosha-jinki-gan (TJ107), on improving chronic ischemic stroke using the mouse model with middle cerebral artery occlusion (MCAO). The changes in the intracerebral inflammatory response (macrophages (F4/80), TLR2•4, IL-23, IL-17, TNF-α, and IL-1β) were examined using real-time RT-PCR. The MCAO mice showed the increased expression of glial fibrillary acidic protein (GFAP) and of F4/80, TLR2, TLR4, IL-1β, TNF-α, and IL-17 in the brain tissue from the MCAO region. This suggests that they contribute to the expansion of the ischemic stroke infarct area and to the worsening of the neurological symptoms of the MCAO mice in the chronic phase. On the other hand, the administration of TJ107 was proven to reduce the infarct area, with decreased GFAP expression, suppressed macrophage infiltration in the brain, and reduced TNF-α, IL-1β, and IL-17 production compared with the MCAO mice. This study first demonstrated Gosha-jinki-gan’s therapeutic effects on the chronic ischemic stroke. Full article

Objective: Considering the absence of research testing the entire sequence of passion, behavioral regulation, and subjective well-being (SWB), this study aimed to analyze the hypothetical causal relationships between the variables of a model that integrates the Dualistic Passion Model (DMP) and Self-Determination Theory (SDT) in order to understand the impact of harmonious passion (HP) and obsessive passion (OP) and the regulation of motivation on the SWB of elite athletes with disability. Method: This study includes 143 elite athletes from national adapted sports (36 female; 107 male) aged between 15 and 59 (M = 29.21; SD = 10.45). Weekly training sessions ranged from 1 to 12 (M = 4.52; SD = 2.71), and the years of competitive practice ranged from 1 to 28 (M = 5.55; SD = 6.98). Data were collected using valid and reliable questionnaires for the study population and analyzed using structural equation analysis. The following results were identified: a positive and a significant effect between OP and self-determination motivation (SDM); a positive but not a significant effect between OP and non-self-determination motivation (NSDM); a significant effect between SDM and SWL and SDM and positive affect (PA); and, finally, a positive but non-significant effect between SDM and negative affect (NA). In contrast, there is a positive and significant effect between HP and SDM; a negative and significant effect between HP and NSDM; a positive but non-significant effect between NSDM and SWL; a negative and significant effect between NSDM and PA; and, finally, a positive and significant effect between NSDM and NA. Conclusions: The perception of passion regarding sport can be a positive predictor of SDM, which, in turn, can influence levels of SWB, both from a cognitive point of view (SWL) and from an emotional point of view (PA). This reinforces the positive effect of the self-determination behavior in adapted sport on SWB and its contribution to health and quality of life in people with disabilities. Full article

Zinc finger proteins are frequently implicated in a wide range of neurodevelopmental disorders (NDDs). In this study, we report a case of mild intellectual disability (ID), global developmental delay (GDD), and developmental coordination disorder (DCD) in an individual with unaffected parents. Trio-based whole-exome sequencing (WES) identified a de novo variant (c.1530dup, p.Glu511ArgfsTer16) in the ZNF496 gene of the proband. According to ACMG guidelines, this novel variant is classified as pathogenic. It creates a frameshift that introduces a premature stop codon, resulting in a truncated protein of 525 amino acids (compared to the wild-type 587 residues). Notably, NMDEscPredictor analysis predicted that the transcript escapes nonsense-mediated decay (NMD) despite the frameshift. Computational analyses suggest the potential pathogenetic effects of the identified variant. As documented, ZNF496 interacts with JARID2, a gene associated with NDDs, ID and facial dysmorphism (MIM: #620098). In silico analyses suggest that the identified mutation disrupts this interaction by deleting ZNF496’s C2H2 domain, potentially dysregulating JARID2 target genes. To our knowledge, this is the first reported association between ZNF496 and NDDs, and the variant has been submitted to the ClinVar database (SCV006100880). Functional studies are imperative to validate ZNF496’s role in NDDs and confirm the mutation’s impact on ZNF496-JARID2 interactions. Full article

Study Design: Prospective observational study. Background: Lumbar spinal stenosis (LSS) impairs balance and gait function, increasing fall risk and limiting quality of life. Although postoperative recovery of balance is clinically important, longitudinal data using multidimensional balance assessments are limited. Methods: A prospective cohort study was conducted in 101 patients (mean age 74.9 ± 6.9 years) undergoing surgery for LSS. The Brief Balance Evaluation Systems Test (Brief BESTest), Oswestry Disability Index (ODI), Modified Falls Efficacy Scale (MFES), Zurich Claudication Questionnaire (ZCQ), and Visual Analog Scales (VAS) for pain/numbness were evaluated preoperatively and at 6 and 12 months postoperatively. Changes over time and correlations between Brief BESTest and PROMs were analyzed. Results: The total Brief BESTest score significantly improved from 13.3 ± 5.3 preoperatively to 16.1 ± 5.1 at 6 months and 16.0 ± 5.1 at 12 months (p < 0.01). Subdomains including Anticipatory Adjustments, Postural Responses, Sensory Orientation, and Stability in Gait improved significantly, while Stability Limits did not. At 12 months postoperatively, ODI decreased by 19.1%, ZCQ symptom and function scores improved by 0.8 and 0.9 points, respectively, and VAS scores improved by 17.1 mm for low back pain, 26.5 mm for lower limb pain, and 19.5 mm for numbness, all showing marked improvements from baseline. MFES also increased significantly postoperatively. The Brief BESTest score correlated significantly with MFES and ZCQ-PFS at baseline, and with ODI, ZCQ, and VAS scores at 12 months. Conclusions: Balance ability in LSS patients improved after surgery, as measured by the Brief BESTest, with clinically meaningful changes maintained for 12 months. Improvements in balance were significantly associated with reductions in pain, disability, and fear of falling, suggesting the Brief BESTest is a comprehensive indicator of postoperative recovery. Full article

Lesbian, Gay, Bisexual, Transgender, Questioning, or Queer (LGBTQ) students with disabilities face unique challenges in the educational environment, and educators must provide support based on intersectionality. However, research on LGBTQ students in special needs education is limited, and the extent of educators’ awareness and support is not well documented. Therefore, this study explored the awareness, knowledge, and support practices of special needs school educators regarding LGBTQ students. We conducted a nationwide survey of educators in special needs schools in Japan, and 2024 valid responses were analyzed using multiple correspondence and cluster analyses. The results revealed that many educators lacked an understanding of basic LGBTQ terminology and may have been unaware of their discriminatory behaviors. Additionally, most educators had never encountered LGBTQ students with disabilities, potentially hindering these students’ opportunities to seek support. Furthermore, educators who had received LGBTQ training reported higher awareness and being more proactive in supporting LGBTQ students than those who had not. Thus, training may be associated with support-related attitudes. This highlights the need for ongoing training programs that address LGBTQ identity and disability, considering their intersectionality. These preliminary findings suggest the potential for creating an inclusive environment for LGBTQ students with disabilities; nevertheless, structural barriers remain. Full article

Family empowerment is a key component of effective family-centered practices in healthcare, mental health, and educational services. The Family Empowerment Scale (FES) is the most commonly used instrument to evaluate empowerment in families raising children with emotional, behavioral, or developmental disorders. Despite its importance, the FES for diverse populations, especially Latinx parents, has rarely been evaluated using innovative psychometric approaches. In this study, we evaluated key dimensions and psychometric evidence of the Family Empowerment Scale (FES) for 96 Latinx parents of children with intellectual and developmental disabilities (IDD) in the United States using an exploratory graph analysis (EGA). The EGA identified a five-dimensional structure, and EGA models outperformed the original CFA 3-factor models for both parents of children with autism and other disabilities. This study identified distinct, meaningful dimensions of empowerment that reflect both shared and unique empowerment experiences across two Latinx parent groups. These insights can inform the design of culturally responsive interventions, instruments, and policies that more precisely capture and boost empowerment in Latinx families. This study contributes to closing a gap in the literature by elevating the voices and experiences of Latinx families by laying the groundwork for more equitable support systems in special education and disability services. Full article

Background/Objective: Understanding how chronic conditions such as knee osteoarthritis (OA) and chronic obstructive pulmonary disease (COPD) influence long-term physical activity (PA) is essential for developing condition-specific rehabilitation strategies. This study aimed to examine whether baseline diagnoses of knee OA and COPD are independently associated with the trajectories of PA decline over five years in U.S. adults, informed by the disablement process model. Methods: We analyzed data from 855 adults aged ≥45 years enrolled in the Osteoarthritis Initiative (OAI). The participants were categorized into three baseline groups, control (n = 122), knee OA (n = 646), and COPD (n = 87), based on self-reports and prior clinical assessments. PA was measured annually for five years using the Physical Activity Scale for the Elderly (PASE). General linear mixed models assessed changes in PA over time, adjusting for demographic, behavioral, and clinical covariates. Results: Compared to the controls, participants with knee OA had a significant decline in PA over time (β = −6.62; 95% CI: −15.4 to −2.19; p = 0.014). Those with COPD experienced an even greater decline compared to the knee OA group (β = −11.2; 95% CI: −21.7 to −0.67; p = 0.037). These associations persisted after adjusting for age, sex, body mass index, comorbidities, and smoking. Conclusions: Baseline knee OA and COPD were independently associated with long-term reductions in PA. These findings underscore the importance of early, tailored rehabilitation strategies, particularly pulmonary rehabilitation, in preserving functional independence among older adults with chronic conditions. Full article

Background: Social and financial services are essential for the inclusion and well-being of people with disabilities (PWDs), who often rely on family caregivers to access these systems. In Saudi Arabia, where disability inclusion is a strategic goal under Vision 2030, understanding caregiver experiences is crucial to identifying service gaps and improving accessibility. Objectives: This study aimed to explore caregivers’ perspectives on awareness, perceived barriers, and accessibility of social and financial services for PWDs in Saudi Arabia. The analysis is grounded in Andersen’s Behavioural Model of Health Service Use and the WHO’s International Classification of Functioning, Disability and Health (ICF) framework. Methods: A cross-sectional survey was conducted with 3353 caregivers of PWDs attending specialised day schools. The survey collected data on demographic characteristics, service awareness, utilisation, and perceived obstacles. Exploratory Factor Analysis (EFA) identified latent constructs, and Structural Equation Modelling (SEM) was used to test relationships between awareness, barriers, and accessibility. Results: Findings reveal that over 70% of caregivers lacked awareness of available services, and only about 3% had accessed them. Key challenges included technological barriers, complex procedures, and non-functional or unclear service provider platforms. Both User Barriers and Service Barriers were negatively associated with Awareness and Accessibility. Awareness, in turn, significantly predicted perceived Accessibility. Caregiver demographics, such as age, education, gender, and geographic location, also influenced awareness and service use. Conclusions: There is a pressing need for targeted awareness campaigns, accessible digital service platforms, and simplified service processes tailored to diverse caregiver profiles. Inclusive communication, decentralised outreach, and policy reforms are necessary to enhance service access and promote the societal inclusion of PWDs in alignment with Saudi Arabia’s Vision 2030. Full article

This study examines how Ontario’s Health and Physical Education curriculum addresses the needs of young adults with disabilities. A total of 54 individuals aged 18–35 years old with developmental, learning, or physical disabilities who had completed secondary school in Ontario participated in a cross-sectional mixed-methods survey. Participants were recruited through disability-focused community networks and a university psychology participant pool. They completed the Sex Education subscale of the Sexual Knowledge, Experience, Feelings and Needs Scale, a 35-item sexual knowledge questionnaire, and open-ended questions. Quantitative data were analyzed using descriptive statistics and independent samples t-tests; qualitative responses were examined using thematic analysis. Participants reported limited factual knowledge, minimal classroom representation, and heavy reliance on independent learning. Barriers included inaccessible materials, teacher discomfort, and the absence of disability narratives in sexuality units. Findings point to three priorities: revising curriculum content, expanding educator training, and creating disability-affirming resources. These measures will help ensure comprehensive and rights-based sexuality education that supports the autonomy and well-being of students with disabilities. Full article

Background/Objectives: Correction surgery for adult spinal deformity (ASD) reduces disability but may lead to spinal stiffness. Cultural diversity may also influence how this stiffness affects daily life. We aimed to evaluate the impact of correction surgery on Japanese patients with ASD using a newly developed questionnaire and to clarify how these patients adapt to their living environment postoperatively in response to spinal stiffness. Methods: This retrospective study included 74 Japanese patients with operative ASD (mean age: 68.2 ± 7.5 years; fusion involving >5 levels) with a minimum follow-up of 1 year. Difficulties in performing various activities of daily living (ADLs) were assessed using a novel 20-item questionnaire tailored to the Oriental lifestyle. The questionnaire also evaluated lifestyle and environmental changes after surgery. Sagittal and coronal spinal parameters were measured using whole-spine radiographs, and clinical outcomes were assessed using the ODI and SRS-22 scores. Results: Coronal and sagittal alignment significantly improved postoperatively. Although the total ADL score remained unchanged, four trunk-bending activities showed significant deterioration. The lower instrumented vertebrae level and pelvic fusion were associated with lower scores in 11 items closely related to trunk bending or the Oriental lifestyle. After surgery, 61% of patients switched from a Japanese-style mattress to a bed, and 72% swapped their low dining table for one with chairs. Both the ODI and SRS-22 scores showed significant postoperative improvements. Conclusions: Trunk-bending activities worsened postoperatively in Japanese patients with ASD, especially those who underwent pelvic fusion. Additionally, patients often modified their living environment after surgery to accommodate spinal stiffness. Full article

Diabetes mellitus (DM) is one of the leading causes of death and disability worldwide and its prevalence continues to rise. Chronic hyperglycemia exposes patients to severe complications. Among these, diabetic vascular lesions are the most destructive. Their primary driver is the synergistic interaction between hyperglycemia-induced oxidative stress and chronic inflammation. This review systematically elucidates how multiple pathological pathways—namely, metabolic dysregulation, mitochondrial dysfunction, endoplasmic reticulum stress, and epigenetic reprogramming—cooperate to drive oxidative stress and inflammatory cascades. Confronting this complex pathological network, natural products, unlike conventional single-target synthetic drugs, exert multi-target synergistic effects, simultaneously modulating several key pathogenic networks. This enables the restoration of redox homeostasis and the suppression of inflammatory responses, thereby improving vascular function and delaying both microvascular and macrovascular disease progression. However, the clinical translation of natural products still faces multiple challenges and requires comprehensive mechanistic studies and rigorous validation to fully realize their therapeutic potential. Full article

Background: More than 1500 genes are associated with developmental delay and intellectual disability, with variants in many of these genes contributing to a shared phenotype. The discovery of variants of uncertain significance (VUS) found in these genes during genetic testing can lead to ambiguity and further delay in diagnosis and medical management. Phenotyping, additional genetic testing, and functional studies can all add valuable information to help reclassify these variants. Here we demonstrate the clinical utility of epigenetic signatures in prioritizing variants of uncertain significance in genes associated with developmental delay (DD) and intellectual disability (ID). Methods: Genome sequencing was performed in a male with developmental delay. He was found to have VUSs in both PHF6 and DDB1 genes, linked with Börjeson–Forssman–Lehmann syndrome (BFLS) and White–Kernohan syndrome (WHIKERS), respectively. These two disorders share a similar phenotype but have distinct inheritance patterns and molecular pathogenic mechanisms. DNA methylation profiling (DNAm) of whole blood was performed using the clinically validated EpiSign assay. Results: The proband’s methylation profile demonstrated a strong correlation with the BFLS methylation signature, supporting the PHF6 variant as a likely cause of his neurodevelopmental disorder. Conclusions: Epigenetic testing for disorders with distinct methylation patterns can provide diagnostic utility when a patient presents with variants of uncertain significance in genes associated with developmental delay. Epigenetic signatures can also guide genetic counselling and family planning. Full article