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14 pages, 1190 KB  
Article
Orthogeriatric Fracture Syndrome: A Large-Scale Bibliometric Analysis of a Proposed Concept for Cross-Disciplinary Awareness and Coordinated Care
by Alceu Bissoto, Heike Annette Bischoff-Ferrari, Karin Blum, Silvia Brunner, Michael Dietrich, Serge Ferrari, Stefan Goetz, Slavko Rogan, Anke Scheel-Sailer, Lisa Margret Koch and Johannes Dominik Bastian
J. Clin. Med. 2026, 15(8), 3105; https://doi.org/10.3390/jcm15083105 (registering DOI) - 18 Apr 2026
Abstract
Background/Objectives: Older patients with fractures often present with a complex interplay of factors associated with frailty and functional decline. The emerging concept of Orthogeriatric Fracture Syndrome (OFS) aims to characterize these distinct relationships of pathologies and outcomes. Despite increasing recognition of OFS [...] Read more.
Background/Objectives: Older patients with fractures often present with a complex interplay of factors associated with frailty and functional decline. The emerging concept of Orthogeriatric Fracture Syndrome (OFS) aims to characterize these distinct relationships of pathologies and outcomes. Despite increasing recognition of OFS in clinical practice, due to the distributed nature of fragility factors across medical disciplines, it remains poorly defined in the literature. Methods: We used large-scale text mining of 26 million PubMed abstracts to quantify the occurrence and interrelationship of OFS-related concepts across all disciplines in biomedical research. Results: OFS terms were more prevalent in fragility fractures than in other fracture types, particularly osteoporosis (0.52 vs. 0.09, p < 0.05). In pairwise keyword correlation (Pearson φ), the correlations presented between OFS keywords are comparable to the ones in the more established metabolic syndrome (e.g., φ = 0.07 between stroke and hypertension, p < 0.05). For OFS, osteoporosis emerged as the central node linking OFS outcomes and pathologies, correlating with fragility fracture (φ = 0.176, p < 0.05) and sarcopenia (φ = 0.03, p < 0.05). Sarcopenia in turn correlated with gait (φ = 0.04, p < 0.05), malnutrition (φ = 0.05, p < 0.05), and frailty (φ = 0.032, p < 0.05). Old age keywords showed substantially higher association with OFS keywords (e.g., φ = 0.06 for elderl* and hip fracture, p < 0.05) than with metabolic syndrome terms (elderl* and insulin resistance, p > 0.05). Conclusions: Overall, the analysis showed statistically significant associations between keywords representing OFS outcomes, pathologies and old age. The combined occurrence of osteoporosis, sarcopenia, frailty and risk of falls may help conceptually identify older adults at risk and inform preventive measures. This large-scale bibliometric analysis supports OFS as a conceptually coherent, proposed theoretical framework for cross-disciplinary awareness and coordinated care, with a literature-level organizational pattern comparable to metabolic syndrome, however, pending prospective clinical validation. This study reframes fragility fractures as the endpoint of a broader, potentially modifiable risk constellation and underscores the need for further clinical and epidemiological validation. Full article
(This article belongs to the Special Issue The “Orthogeriatric Fracture Syndrome”—Issues and Perspectives)
21 pages, 1273 KB  
Article
Motor-Derived Digital Biomarkers for Identifying Low-MoCA Status in People with Parkinson’s Disease
by Bohyun Kim, Changhong Youm, Sang-Myung Cheon, Hwayoung Park, Hyejin Choi, Juseon Hwang and Minsoo Kim
Sensors 2026, 26(8), 2503; https://doi.org/10.3390/s26082503 (registering DOI) - 18 Apr 2026
Abstract
Cognitive impairment is a prevalent non-motor manifestation of Parkinson’s disease (PD), yet early detection remains limited by the sensitivity of conventional cognitive assessments. Emerging evidence suggests that motor dysfunction, particularly gait and balance abnormalities, reflects underlying cognitive vulnerability. This study examined motor–cognitive associations [...] Read more.
Cognitive impairment is a prevalent non-motor manifestation of Parkinson’s disease (PD), yet early detection remains limited by the sensitivity of conventional cognitive assessments. Emerging evidence suggests that motor dysfunction, particularly gait and balance abnormalities, reflects underlying cognitive vulnerability. This study examined motor–cognitive associations and evaluated whether motor-derived features can be used to classify low-MoCA status in PD without direct cognitive testing. Data from 102 individuals with PD were analyzed, incorporating clinical assessments, physical function measures, lifestyle factors, and gait-derived biomarkers. Multiple regression identified Unified Parkinson’s Disease Rating Scale Part III, stride length of the more affected side during 360° turning at preferred speed, and maximum ankle jerk on the less affected side during forward walking as independent predictors of Montreal Cognitive Assessment scores, collectively explaining 34.7% of the variance. Network analysis revealed integrative relationships among global motor severity, gait smoothness, and cognitive performance. Using a compact motor-based feature set, logistic regression achieved a mean accuracy of 65.8% and an AUC of 0.737 in classifying low-MoCA status under cross-validation. These findings demonstrate that motor-derived digital biomarkers capture clinically meaningful information about cognitive status in PD and may serve as adjunctive tools for identifying cognitive vulnerability in clinical settings. Full article
(This article belongs to the Special Issue Advancing Human Gait Monitoring with Wearable Sensors)
13 pages, 8854 KB  
Brief Report
Effect of Data Length on Nonlinear Analysis of Human Motion During Locomotor Activities
by Arash Mohammadzadeh Gonabadi and Judith M. Burnfield
Appl. Sci. 2026, 16(8), 3939; https://doi.org/10.3390/app16083939 (registering DOI) - 18 Apr 2026
Abstract
Nonlinear analysis provides a framework for understanding the complexity and stability of human locomotion by capturing dynamic patterns beyond linear methods. This study examined the effect of data length on seven nonlinear measures: Sample Entropy (SpEn), Approximate Entropy (ApEn), Lyapunov Exponents using Wolf’s [...] Read more.
Nonlinear analysis provides a framework for understanding the complexity and stability of human locomotion by capturing dynamic patterns beyond linear methods. This study examined the effect of data length on seven nonlinear measures: Sample Entropy (SpEn), Approximate Entropy (ApEn), Lyapunov Exponents using Wolf’s (LyEW) and Rosenstein’s (LyER) algorithms, Detrended Fluctuation Analysis (DFA), Correlation Dimension (CD), and the Hurst–Kolmogorov process (HK). A 3500-frame kinematic dataset from a healthy adult performing motor-assisted elliptical training and treadmill walking was segmented from 100 to 3500 frames in 10-frame increments. Data from treadmill and elliptical conditions were analyzed and presented in a combined manner to highlight general stabilization trends across locomotor tasks. Results revealed that increasing data length significantly affected all nonlinear metrics (p ≤ 0.0005). Stabilization occurred at varying minimum lengths: SpEn at ~4.5–8.8 s (540–1060 frames), ApEn at ~5.4–7.7 s (650–920 frames), LyEW at ~19.1–29.2 s (2290–3500 frames), LyER at ~1.3–1.5 s (150–180 frames), DFA at ~29.2 s (3500 frames), CD at ~1.7–15.9 s (200–1910 frames), and HK at ~9.1–9.8 s (1090–1180 frames). Notably, HK achieved stable estimates in approximately one-third of the time required for DFA and substantially less than LyEW, supporting its suitability for time-constrained or clinical settings. These findings suggest the need to tailor data collection to each nonlinear metric and to report data length explicitly to improve accuracy, reproducibility, and methodological rigor in gait variability research. However, these findings should be interpreted within the limitations of a single-participant, exploratory design. Full article
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33 pages, 8265 KB  
Article
Sagittal-Plane Knee Flexion Moment Estimation Using a Lightweight Deep Learning Framework Based on Sequential Surface EMG Feature Frames
by Yuanzhi Zhuo, Adrian Pranata, Chi-Tsun Cheng and Toh Yen Pang
Sensors 2026, 26(8), 2500; https://doi.org/10.3390/s26082500 (registering DOI) - 18 Apr 2026
Abstract
Knee joint moment is an important biomechanical parameter for sports assessment, rehabilitation monitoring, and human–machine interaction. However, direct measurement is often restricted to laboratory-based settings. Surface electromyography (sEMG) offers a non-invasive alternative for indirect joint moment estimation, but many existing deep learning models [...] Read more.
Knee joint moment is an important biomechanical parameter for sports assessment, rehabilitation monitoring, and human–machine interaction. However, direct measurement is often restricted to laboratory-based settings. Surface electromyography (sEMG) offers a non-invasive alternative for indirect joint moment estimation, but many existing deep learning models remain too computationally demanding for potential wearable edge deployment. To address this gap, this study proposes Topo2DCNN-LSTM, a lightweight two-dimensional (2D) convolutional neural network model, designed for sagittal-plane knee flexion moment estimation. The model used a feature-based sequential representation, transforming raw sEMG signals into compact Root Mean Square (RMS) feature frames. The input was processed by a lightweight 2D convolutional neural network (CNN) encoder and paired with long short-term memory (LSTM) units. The model was trained on a public walking dataset of healthy subjects with synchronized sEMG and joint kinetics at two treadmill speeds. When compared with selected deep learning baselines, the quantized model achieved a mean RMS Error of 0.088 ± 0.020 Nm/kg at 1.2 m/s and 0.114 ± 0.034 Nm/kg at 1.8 m/s. On a SparkFun Thing Plus–SAMD51, it achieved an average inference latency of 28 ms using 71,316 bytes of random-access memory (RAM) and 257,172 bytes of flash. These results support its use as a proof of concept for personalized unilateral knee moment estimation with isolated on-device inference feasibility under resource-constrained and limited walking conditions. Full article
19 pages, 970 KB  
Systematic Review
Effects of Aquatic Therapy on Balance and Gait in Chronic Stroke: A Systematic Review with Exploratory Meta-Analysis
by Daniela Ivaldi, Gabriele Triolo, Roberta Lombardo, Carla Susinna, Giovanni Restuccia, Angelo Quartarone and Viviana Lo Buono
Neurol. Int. 2026, 18(4), 71; https://doi.org/10.3390/neurolint18040071 - 17 Apr 2026
Abstract
Background: Aquatic therapy is increasingly used in post-stroke rehabilitation, but its effects on balance and gait in the chronic phase remain variably reported. This systematic review aimed to evaluate the effects of aquatic therapy, alone or combined with land-based rehabilitation, on balance [...] Read more.
Background: Aquatic therapy is increasingly used in post-stroke rehabilitation, but its effects on balance and gait in the chronic phase remain variably reported. This systematic review aimed to evaluate the effects of aquatic therapy, alone or combined with land-based rehabilitation, on balance and gait in individuals with chronic stroke. Methods: A systematic search of PubMed, Embase, Scopus, and Web of Science was conducted between February and March 2026. Randomized controlled trials enrolling adults with chronic stroke and evaluating aquatic-containing interventions with quantitative balance and/or gait outcomes were included. Owing to clinical and methodological heterogeneity, the primary synthesis was narrative. An exploratory random-effects meta-analysis was additionally performed for post-intervention Berg Balance Scale (BBS) scores. Results: Thirteen randomized controlled trials involving 468 participants were included. Overall, aquatic therapy was associated with more consistent improvements in balance than in gait, while combined aquatic and land-based programs generally showed broader functional gains than land-based rehabilitation alone. In the exploratory meta-analysis, the primary pooled analysis of four studies favored aquatic-containing interventions for post-intervention BBS scores (MD = 3.69, 95% CI 2.69 to 4.69; p < 0.001), with no observed heterogeneity (I2 = 0%). Conclusions: Aquatic therapy may be a useful adjunctive rehabilitation strategy for improving balance in chronic stroke, whereas effects on gait appear more variable. These findings should be interpreted cautiously because the quantitative synthesis was exploratory and the overall evidence base remains heterogeneous and limited by small sample sizes and short follow-up. Full article
9 pages, 247 KB  
Case Report
Neurocognitive Therapeutic Exercise Integrated with Focal Mechanical Vibrations in a CANVAS Patient: A Case Report
by Filippo Camerota, Filippo Mario Topa, Giuseppe Di Pietro, Federico Zangrando, Lorenzo Coluccia, Massimiliano Mangone, Marco Paoloni, Andrea Truini and Claudia Celletti
Neurol. Int. 2026, 18(4), 70; https://doi.org/10.3390/neurolint18040070 - 17 Apr 2026
Abstract
Cerebellar Ataxia, Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS) is a progressive multisystem disorder characterized by cerebellar ataxia, sensory neuropathy and bilateral vestibular failure. Although intensive rehabilitation is commonly recommended, the actual effectiveness and the most appropriate physiotherapeutic strategy for CANVAS have not [...] Read more.
Cerebellar Ataxia, Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS) is a progressive multisystem disorder characterized by cerebellar ataxia, sensory neuropathy and bilateral vestibular failure. Although intensive rehabilitation is commonly recommended, the actual effectiveness and the most appropriate physiotherapeutic strategy for CANVAS have not been clearly established. Background/Objectives: To evaluate the effects of an integrated rehabilitation program combining neurocognitive therapeutic exercise and focal muscle vibration (FMV) on clinical and instrumental measures of gait, balance and postural stability in a CANVAS patient. Methods: A structured protocol consisting of neurocognitive therapeutic exercise and FMV was administered. Clinical measures included the Berg Balance Scale, Tinetti, SARA and SF-36. The instrumental evaluations included stabilometry and gait analysis. Results: The intervention produced improvements in balance scores associated with a reduction in fall risk. Stabilometry revealed reduction in oscillation area. Conclusions: FMV combined with neurocognitive therapeutic exercise may promote clinical and biomechanical improvements in CANVAS. Full article
(This article belongs to the Section Movement Disorders and Neurodegenerative Diseases)
22 pages, 5917 KB  
Review
Mapping Research on Virtual Reality for Balance, Coordination, and Motor Rehabilitation: A Bibliometric Analysis with Topic Modeling
by Hongfei Zhang, Wenjun Hu, Qing Zhang, Man Jiang and Jakub Kortas
Healthcare 2026, 14(8), 1067; https://doi.org/10.3390/healthcare14081067 - 17 Apr 2026
Abstract
Virtual reality (VR) has been increasingly adopted as a digital tool in rehabilitation for balance training, coordination improvement, and motor recovery, yet the literature remains dispersed across clinical rehabilitation, exercise-based interventions, and broader motor-related applications. This fragmentation makes it difficult to determine how [...] Read more.
Virtual reality (VR) has been increasingly adopted as a digital tool in rehabilitation for balance training, coordination improvement, and motor recovery, yet the literature remains dispersed across clinical rehabilitation, exercise-based interventions, and broader motor-related applications. This fragmentation makes it difficult to determine how the field has evolved and where research emphasis has shifted. This study mapped the research landscape and thematic evolution of VR for balance, coordination, and motor rehabilitation using bibliometric analysis and topic modeling. A total of 1258 articles indexed in the Web of Science Core Collection from 2011 to 2025 were analyzed. Only English language articles and reviews relevant to VR-based balance, coordination, or motor rehabilitation research were included, yielding a final dataset of 1258 publications. CiteSpace and VOSviewer were used to examine keyword co-occurrence, clustering patterns, and temporal trends, while Latent Dirichlet Allocation (LDA) was applied to identify latent themes and their temporal dynamics. The field has moved beyond early feasibility testing toward a more differentiated landscape shaped by distinct clinical targets, population groups, and training purposes. Seven recurring themes were identified, including vestibular rehabilitation and immersive training, post-stroke upper-limb rehabilitation, efficacy and adverse-effect assessment, balance and gait training interventions, evidence synthesis and review-based evaluation, elderly exercise and cognitive interventions, and skill-oriented virtual task training with recent expansion toward broader population groups and task-specific applications beyond traditional rehabilitation settings. VR research on balance, coordination, and motor rehabilitation has evolved into a more thematically differentiated field rather than remaining a single rehabilitation-oriented domain. By combining bibliometric mapping with topic modeling, this study clarifies where evidence is concentrated and which thematic directions are gaining visibility, providing a clearer basis for future evidence synthesis and more comparable intervention reporting. Full article
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12 pages, 219 KB  
Article
Efficacy of an Oral Chondroprotective Joint Supplement on Stride Length and Gait Symmetry in Aged Geldings with Chronic Lameness
by Renee M. Harbowy, Cara I. Robison, Isabella Tillman, Jane M. Manfredi and Brian D. Nielsen
Animals 2026, 16(8), 1230; https://doi.org/10.3390/ani16081230 - 17 Apr 2026
Abstract
Oral joint supplements (OJSs), specifically those containing glucosamine and chondroitin sulfate, are some of the most popular feed additives fed by horse owners. However, evidence of the efficacy of these nutraceuticals in vivo is lacking. To investigate the impacts of an OJS on [...] Read more.
Oral joint supplements (OJSs), specifically those containing glucosamine and chondroitin sulfate, are some of the most popular feed additives fed by horse owners. However, evidence of the efficacy of these nutraceuticals in vivo is lacking. To investigate the impacts of an OJS on equine lameness, 40 geldings (18 ± 7 yr) with chronic lameness and AAEP lameness grades between 2 and 4 (as scored by a veterinary sports medicine and rehabilitation specialist) were enrolled in the study. Horses were stratified by lameness grade, BCS, and weight, and then randomly assigned to receive a placebo powder or an OJS daily for 6 wks. Stride length measurements and lameness evaluations were performed every 2 wk. There was no effect of treatment or treatment-by-day interaction for stride length, though day affected both walk (p = 0.04) and trot (p < 0.01). Only day affected lameness grade, with the lowest average score on d28 (p = 0.04). There was no evidence of supplementation improving gait symmetry over time. As such, there is no evidence to support efficacy of the tested OJS when fed for 6 wk. These results emphasize the importance of well-controlled studies and support continued development of evidence-based management strategies for equine joint health. Full article
10 pages, 694 KB  
Review
The Relationship Between Body Posture and Psychophysical Functioning in Children with Obesity: A Narrative Literature Review and Future Research Perspective Related to Preliminary Research Concept
by Kornelia Korzan, Kamila Czepczor-Bernat, Paweł Matusik and Anna Brzęk
Medicina 2026, 62(4), 779; https://doi.org/10.3390/medicina62040779 - 17 Apr 2026
Abstract
Childhood obesity is a growing global health problem with significant biomechanical and psychosocial consequences. While many studies have examined these domains separately, few integrate postural abnormalities, psychophysical functioning, and lifestyle factors within a single framework. This narrative review synthesises the literature published between [...] Read more.
Childhood obesity is a growing global health problem with significant biomechanical and psychosocial consequences. While many studies have examined these domains separately, few integrate postural abnormalities, psychophysical functioning, and lifestyle factors within a single framework. This narrative review synthesises the literature published between 2005 and 2025 to summarise current evidence and identify research gaps. The findings indicate that overweight and obesity increase the risk of musculoskeletal deviations such as genu valgum, flat feet, and increased lumbar lordosis, as well as altered gait biomechanics and reduced motor competence. Excess body weight is also associated with lower self-esteem, negative body image, depressive symptoms, and reduced health-related quality of life in children and adolescents. These outcomes appear to be influenced by modifiable lifestyle factors, including parental health behaviours, sleep patterns, and screen time, although reported associations remain inconsistent. Notably, few studies address biomechanical, psychological, and environmental factors simultaneously, which limits the understanding of their interactions. To address this gap, a prospective observational study of 250–300 children aged 7–17 years is proposed. The study will combine objective postural assessments, validated psychometric tools, and lifestyle analyses at baseline and after a 12–14-month follow-up. This integrated approach aims to identify postural compensation patterns, psychosocial risk trajectories, and modifiable behavioural predictors associated with childhood obesity, supporting the development of early preventive and interdisciplinary interventions. Full article
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22 pages, 2845 KB  
Article
Development and Comprehensive Evaluation of 3D-Printed Prosthetic Feet: Modeling, Testing and a Pilot Gait Study
by Anton Kurakin, Anton Sergeev, Darya Korostovskaya, Anna Kurenkova and Vladimir Serdyukov
Prosthesis 2026, 8(4), 40; https://doi.org/10.3390/prosthesis8040040 - 16 Apr 2026
Abstract
Background/Objectives: The modern prosthetic foot market is characterized by a pronounced polarization between affordable but low-function devices and high-performance yet costly composite prostheses. The aim of this study was to develop and comprehensively evaluate cost-effective, functional prosthetic feet manufactured by fused deposition modeling [...] Read more.
Background/Objectives: The modern prosthetic foot market is characterized by a pronounced polarization between affordable but low-function devices and high-performance yet costly composite prostheses. The aim of this study was to develop and comprehensively evaluate cost-effective, functional prosthetic feet manufactured by fused deposition modeling (FDM). Methods: An iterative design methodology was employed, combining finite element analysis to optimize the biomechanical response of the device, the incorporation of user-specific requirements and experimental validation. Two TPU 95A-based 3D-printed prosthetic foot designs were designed and developed, and their strength and functional characteristics were assessed numerically under the ISO 22675:2024 normative loading cycle. Bench-top mechanical tests were conducted on the fabricated prototypes. Functional performance was evaluated by a transtibial amputee using an inertial motion capture system to analyze gait kinematics. Results: The results demonstrated that both designs operate predominantly within the elastic range with an adequate safety margin. The pilot feasibility gait assessment indicated feasibility and plausibility within the tested protocol and participant for both prototypes. Conclusions: The developed TPU 95A-based FDM prosthetic feet demonstrated promising structural integrity and functional feasibility, supporting the potential of low-cost additive manufacturing as a viable approach for producing affordable prosthetic feet. Further studies with larger participant cohorts and extended testing are needed to confirm clinical applicability and long-term performance. Full article
(This article belongs to the Section Orthopedics and Rehabilitation)
36 pages, 23663 KB  
Article
Neuro-Prismatic Video Models for Causality-Aware Action Recognition in Neural Rehabilitation Systems
by Hend Alshaya
Mathematics 2026, 14(8), 1341; https://doi.org/10.3390/math14081341 - 16 Apr 2026
Abstract
Video-based action recognition for neural rehabilitation—spanning stroke recovery, Parkinsonian gait assessment, and cerebral palsy monitoring—faces critical challenges, including temporal ambiguity, non-causal motion correlations, and the absence of causally grounded dynamics modeling. While transformer-based architectures achieve strong performance, they often exploit spurious temporal and [...] Read more.
Video-based action recognition for neural rehabilitation—spanning stroke recovery, Parkinsonian gait assessment, and cerebral palsy monitoring—faces critical challenges, including temporal ambiguity, non-causal motion correlations, and the absence of causally grounded dynamics modeling. While transformer-based architectures achieve strong performance, they often exploit spurious temporal and environmental cues, limiting reliability in safety-critical clinical settings. We propose NeuroPrisma, a neuro-prismatic video framework that integrates frequency-domain spectral decomposition with causal intervention under Structural Causal Models (SCMs) via the backdoor criterion. NeuroPrisma introduces (i) a Prismatic Spectral Attention (PSA) module, which applies discrete Fourier transforms to decompose temporal features into multi-scale frequency bands, disentangling slow postural dynamics from rapid corrective movements, and (ii) a Causal Intervention Layer (CIL), which performs do-calculus-based backdoor adjustment to remove confounding influences and produce causally invariant representations. PSA preconditions representations prior to intervention, improving confounder estimation and causal robustness. Extensive evaluation against seven state-of-the-art models (I3D, SlowFast, TimeSformer, ViViT, Video Swin Transformer, UniFormerV2, and VideoMAE) demonstrates that NeuroPrisma achieves 98.7% Top-1 accuracy on UCF101, 82.4% on HMDB51, 71.2% on Something-Something V2, and 91.5%/95.8% on NTU RGB+D (Cross-Subject/Cross-View), consistently outperforming prior methods. It further reduces the Causal Confusion Score (CCS) by 42.3%, indicating substantially lower reliance on spurious correlations, while maintaining real-time performance with 23.4 ms latency per 16-frame clip on an NVIDIA A100 GPU. All improvements are statistically significant (p < 0.001, Cohen’s d = 0.72–1.24). Evaluation was conducted exclusively on benchmark datasets (UCF101, HMDB51, Something-Something V2, and NTU RGB+D) under controlled conditions, without direct clinical validation on neurological patient cohorts. Overfitting was mitigated using three random seeds (42, 123, 456), RandAugment, Mixup (α = 0.8), weight decay (0.05), and early stopping. Cross-dataset generalization from UCF101 to HMDB51 without fine-tuning achieved 76.2% Top-1 accuracy. Future work will focus on prospective clinical validation across stroke, Parkinson’s disease, and cerebral palsy populations, including correlation with standardized clinical assessment scales such as Fugl–Meyer, UPDRS, and GMFCS. These results establish NeuroPrisma as a causally grounded and computationally efficient framework for reliable, real-time movement assessment in clinical rehabilitation systems. Full article
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13 pages, 1504 KB  
Article
Comparison of Quantitative Evaluation Methods for Pathological Gait Abnormalities in Stroke Survivors
by Kento Sabashi and Ryo Ueno
Biomechanics 2026, 6(2), 39; https://doi.org/10.3390/biomechanics6020039 - 15 Apr 2026
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Abstract
Background/Objectives: The Gait Variable Score (GVS) and Gait Abnormality Score (GAS) have been proposed as methods for quantitatively evaluating deviations from normal gait patterns. This study aimed to investigate whether the GVS or GAS is more useful for evaluating gait in stroke [...] Read more.
Background/Objectives: The Gait Variable Score (GVS) and Gait Abnormality Score (GAS) have been proposed as methods for quantitatively evaluating deviations from normal gait patterns. This study aimed to investigate whether the GVS or GAS is more useful for evaluating gait in stroke survivors. Methods: We used open-access motion capture datasets from 43 stroke survivors and 82 healthy individuals. Nine kinematics and seven muscle activities were extracted. The GVS was calculated as the root mean square difference between the pathological and healthy gait patterns. The modified GAS (mGAS) newly defined in this study was calculated as the mean value of the absolute differences between the pathological and healthy gait patterns divided by the standard deviation of healthy gait patterns. The amplitudes of kinematics and muscle activities were calculated. Results: Both the GVS and mGAS were significantly higher in stroke survivors than in healthy individuals. A significant strong correlation for 16 variables (nine kinematics and seven muscle activities) was observed between the GVS and amplitude (r = 0.921), but no significant correlation was found between the mGAS and amplitude (r = 0.167). Conclusions: As the mGAS is not affected by the amplitude of kinematics and muscle activities, it allows for a comprehensive comparison of abnormalities in both kinematics and muscle activities. The mGAS may be more useful than the GVS for evaluating gait abnormalities in stroke survivors. Full article
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17 pages, 2147 KB  
Article
Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients
by Hasan Emir Taner, Dilek Uludağ Alkaya, Ayşe Kalyoncu Uçar, Ali Şeker, Tuncay Centel, Timur Yıldırım, Nilay Güneş and Beyhan Tüysüz
Genes 2026, 17(4), 463; https://doi.org/10.3390/genes17040463 - 15 Apr 2026
Viewed by 147
Abstract
Background/Objectives: Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous group of disorders characterized by a waddling gait, joint pain, and early-onset osteoarthritis. The aim of this study was to compare the genetic characteristics and long-term clinical follow-up findings of 22 patients [...] Read more.
Background/Objectives: Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous group of disorders characterized by a waddling gait, joint pain, and early-onset osteoarthritis. The aim of this study was to compare the genetic characteristics and long-term clinical follow-up findings of 22 patients with MED from 17 unrelated families. Methods: Molecular diagnosis was performed using clinical exome analysis and exome sequencing. Seventeen children were followed for a median of 5.5 years. Results: Eighteen disease-related variants were identified: 47% in COMP, 11.8% each in COL9A2 and COL9A3 in a monoallelic state, 17.6% in SLC26A2, and 11.8% each in MATN3 and CANT1 in a biallelic state. Some COMP mutations previously identified in pseudoachondroplasia, an allelic disorder of MED1, were shown in our study to exhibit a typical MED1 or intermediate phenotype. In contrast, it was confirmed that certain mutations in SLC26A2 lead to MED4 phenotype. Furthermore, it has been observed that biallelic variants in MATN3 may be associated with the MED5 phenotype. In patients with MED2 and MED3, the knee joint is affected, while in other types, the hip joint is predominantly affected. In 15 children followed until ages 11–18, height decreased slightly as they grew older but remained normal or at the lower limit, and slow progression was observed in the waddling gait and joint pain, except in the intermediate form. Conclusions: This study reveals the frequency of disease-related variants, including seven novel ones, in genes leading to MED1–5 and 7 phenotypes, and expands the spectrum of genetic and clinical phenotypes. Full article
(This article belongs to the Section Genetic Diagnosis)
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15 pages, 1721 KB  
Article
Metformin Treatment Shows Beneficial Effects on RTT-Associated Phenotypical Deficits in Mecp2 T158M Male Mice
by Khatereh Saei Arezoumand, Ghanan Bin Akhtar, Ashraf Kadar Shahib, Jessica S. Jarmasz, Chris-Tiann Roberts, Abbas Rezaeian Mehrabadi, Carl O. Olson and Mojgan Rastegar
Pharmaceuticals 2026, 19(4), 621; https://doi.org/10.3390/ph19040621 - 15 Apr 2026
Viewed by 216
Abstract
Background: Rett Syndrome (RTT) is a progressive neurodevelopmental disorder caused by MECP2 gene mutations. MeCP2 protein binding to methylated DNA is involved in normal brain development and function. T158M is a common RTT-associated mutation, where a threonine is replaced with a methionine, [...] Read more.
Background: Rett Syndrome (RTT) is a progressive neurodevelopmental disorder caused by MECP2 gene mutations. MeCP2 protein binding to methylated DNA is involved in normal brain development and function. T158M is a common RTT-associated mutation, where a threonine is replaced with a methionine, affecting protein function and stability. RTT has recently been identified as a neurometabolic disorder, with metformin emerging as a potential candidate drug. Metformin is a safe and accessible drug, commonly used for Type 2 diabetes. Our team previously studied the regulatory role of metformin on the expression of RTT-related genes/proteins using in vitro and in vivo approaches. However, the phenotypical and behavioral impact of metformin in transgenic mice carrying the common T158M mutation was not explored. Methods: Wild type (WT) and mutant Mecp2T158M (Mecp2tm4.1Bird) male mice were subjected to daily intraperitoneal injection of metformin for 20 days. The control mice received a daily intraperitoneal injection of the solvent. The main RTT-like phenotypical criteria were assessed daily. Behavioral tests included the open field test and elevated plus maze. Results: Behavioral tests indicated no significant effect of metformin on the anxiety levels, locomotion, and exploratory behaviors in the hemizygous male Mecp2T158M mice, despite our observation of increased anxiety levels in the WT counterparts. In hemizygous male Mecp2T158M mice, metformin treatment showed beneficial effects on RTT-like phenotypes, including breathing irregularities, gait abnormalities, hindlimb clasping, and overall total score. The positive effect of metformin was also observed on the body weight in the hemizygous male Mecp2T158M mice. Conclusions: Our findings provide evidence for potential therapeutic effects of metformin for MeCP2-associated neurological disorders. Full article
(This article belongs to the Section Pharmacology)
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