Search Results (190)

Background/Objectives: Low-cost portable load cell dynamometers allow for real-time assessment of muscular strength. This study evaluated the reliability and repeatability of the G-Force load cell system during isometric hip abduction and adduction in young physically active Chilean adults. Methods: In total, 24 participants (19 men, 5 women) performed two maximal voluntary contractions per movement, repeated after a 24 h interval. Measured variables included Peak Force, peak rate of force development (Peak RFD), RFD at 50, 100, and 200 ms (RFD50, RFD100, RFD200), and maximum jerk. Reliability was assessed using intraclass correlation coefficients (ICCs), standard error of measurement (SEM), coefficient of variation (CV%) and Bland–Altman plots. Results: Peak Force showed excellent within-day (ICC = 0.94–0.96) and high between-day reliability (ICC = 0.87–0.89; CV = 20–30%). Bland–Altman analysis indicated negligible bias for Peak Force in abduction (−6.54 N; 95% CI −19.55 to 6.47) and adduction (−17.57 N; 95% CI −37.24 to 2.09), confirming the absence of systematic error. Peak RFD, RFD50–200, and maximum Jerk showed moderate repeatability and lower between-day reliability (ICCs = 0.39–0.70; CVs = 34–57%), indicating higher variability in explosive force indices compared with maximal strength. Conclusions: The G-Force load cell reliably measures maximal isometric hip strength, while Peak RFD, RFD50–200, and maximum jerk should be interpreted cautiously. These findings support the device as a practical, low-cost tool for sports and rehabilitation, though future studies should validate dynamic indices in larger and more diverse populations. Full article

Objectives: Venous malformations (VMs) that infiltrate the muscular layer, involve or are closely adjacent to critical nerves or vessels, or are located deep within or very close to major organs in the thoracic or abdominal cavities are challenging to access during sclerotherapy, which we defined as inaccessible VMs. This study proposed an integrated real-time stereotactic MRI-guided sclerotherapy with bleomycin-polidocanol foam (RSMS-BPF) for the treatment of inaccessible VMs, focusing on its clinical feasibility, efficacy, and safety. Methods: A retrospective study was conducted involving patients treated with RSMS-BPF between 2019 and 2021. During the sclerotherapy, the intraoperative magnetic resonance imaging (MRI) was combined with an optical navigation system to guide precise needle placement and track BPF, a foam sclerosant optimized for MRI visibility. Radiological response was assessed by lesion volume, while clinical improvement was evaluated through patients’ description of their symptoms. Rigorous follow-up and documentation of complications were conducted. Results: A total of 42 patients (mean age 23.6 ± 1.6 years; 18 males) were treated in 64 sclerotherapy sessions. The treatment achieved an overall response rate of 89.5%. Imaging analysis revealed an average lesion volume reduction of 59.6%. 57.9% of patients achieved good or excellent radiological responses. After a median follow-up of 12.25 months, 60.53% of patients reported complete or significant relief. Lesion depth did not affect treatment efficacy (p = 0.43). Minor complications included skin hyperpigmentation (5.3%, 2/38) and blisters (2.6%, 1/38), with no major complications observed. Conclusions: RSMS-BPF demonstrated satisfactory efficacy and safety in VMs treatment, particularly for inaccessible VM lesions. It enables authentic real-time dynamic tracking during sclerotherapy, achieving unparalleled precision targeting while minimizing procedural risks. These findings strongly support routine integration of RSMS-BPF as first-line therapy for complex vascular malformations with critical anatomical constraints. Full article

Several genetic diseases affecting the human nervous system are incurable and insufficiently understood. Among them, nine rare diseases form the polyglutamine (polyQ) family: Huntington’s disease (HD), spinocerebellar ataxia types 1, 2, 3, 6, 7, and 17, dentatorubral pallidoluysian atrophy, and spinal and bulbar muscular atrophy. In most patients, these diseases progress over decades to cause severe movement incoordination and neurodegeneration. Although their inherited genes with tandem-repeat elongations and the encoded polyQ-containing proteins have been extensively studied, the neuronal-type-specific pathologies and their long pre-symptomatic latency await further investigations. However, recent advances in detecting the single-nucleus transcriptome, alongside the length of tandem repeats in HD post-mortem brains, have enabled the identification of very high CAG repeat sizes that trigger transcriptional dysregulation and cell death in specific projection neurons. One challenge is to better understand the complexity of movement coordination circuits, including the basal ganglia and cerebellum neurons, which are most vulnerable to the high CAG expansion in each disease. Another challenge is to detect dynamic changes in CAG repeat length and their effects in vulnerable neurons at single-cell resolution. This will offer a platform for identifying pathological events in vulnerable long projection neurons and developing targeted therapies for all tandem-repeat expansions affecting the CNS projection neurons. Full article

Duchenne muscular dystrophy (DMD) is a severe neuromuscular disease caused by mutations in the DMD gene, leading to muscle degeneration and shortened life expectancy. Beyond motor symptoms, DMD patients frequently exhibit brain co-morbidities, linked to loss of brain-expressed dystrophin isoforms: most frequently Dp427 and Dp140, and occasionally Dp71 and Dp40. DMD mouse models, including mdx^5cv and mdx52, replicate key aspects of the human cognitive phenotype and recapitulate the main genotypic categories of brain phenotype. However, the spatio-temporal expression of brain dystrophin in mice remains poorly defined, limiting insights into how its deficiency disrupts brain development and function. We systematically mapped RNA and protein expression of brain dystrophin isoforms (Dp427 variants, Dp140, Dp71, and Dp40) across brain regions and developmental stages in wild-type mice. Dp427 isoforms were differentially expressed in the adult brain, with Dp427c enriched in the cortex, Dp427p1/p2 in the cerebellum, and Dp427m was also detected across specific brain regions. Dp140 was expressed at lower levels than Dp427; Dp71 was the most abundant isoform in adulthood. Dp140 and Dp71 displayed dynamic developmental changes, from E15 to P60, suggesting stage-specific roles. We also analysed mdx^5cv mice lacking Dp427 and mdx52 mice lacking both Dp427 and Dp140. Both models had minimal Dp427 transcript levels, likely due to the nonsense-mediated decay, and neither expressed Dp427 protein. As expected, mdx52 mice lacked Dp140, confirming their genotypic relevance to human DMD. Our study provides the first atlas of dystrophin expression in the wild-type mouse brain, aiding understanding of the anatomical basis of behavioural and cognitive comorbidities in DMD. Full article

Human-powered electricity generation (HPEG) systems offer promising sustainable energy solutions, yet existing deterministic models fail to capture the inherent variability in human biomechanical performance. This study develops a comprehensive stochastic framework integrating advanced Monte Carlo uncertainty quantification with multi-component fatigue modeling and Pareto optimization. The framework incorporates physiological parameter vectors, kinematic variables, and environmental factors through multivariate distributions, addressing the complex stochastic nature of human power generation. A novel multi-component efficiency function integrates biomechanical, coordination, fatigue, thermal, and adaptation effects, while advanced fatigue dynamics distinguish between peripheral muscular, central neural, and substrate depletion mechanisms. Experimental validation (623 trials, 7 participants) demonstrates RMSE of 3.52 W and CCC of 0.996. Monte Carlo analysis reveals mean power output of 97.6 ± 37.4 W (95% CI: 48.4–174.9 W) with substantial inter-participant variability (CV = 37.6%). Pareto optimization identifies 19 non-dominated solutions across force-cadence space, with maximum power configuration achieving 175.5 W at 332.7 N and 110.4 rpm. This paradigm shift provides essential foundations for next-generation HPEG implementations across emergency response, off-grid communities, and sustainable infrastructure applications. The framework thus delivers dual contributions: advancing stochastic uncertainty quantification methodologies for complex biomechanical systems while enabling resilient decentralized energy solutions critical for sustainable development and climate adaptation strategies. Full article

Background: Respiratory efficiency is considered important in karate due to its role in sustaining muscular performance during high-intensity actions. This study examined the association between pulmonary function and isometric muscle strength in national-level karate athletes. Methods: A total of 23 elite karate athletes (mean age: 23.0 ± 2.3 (mean ± SD) years) participated in the study. Pulmonary function was assessed using a digital spirometer, while isometric handgrip, lower back, and leg strength were measured using a dynamometer. The correlation between pulmonary function and isometric strength was analyzed, and linear regression was employed to examine the predictive capacity of pulmonary parameters for muscle strength. Results: The results revealed significant correlations, ranging from large to very large, between pulmonary function and isometric muscle strength, with correlation coefficients from 0.639 to 0.812 (p < 0.01). Pulmonary function was strongly associated with isometric strength, accounting for 27% to 67% of the variance (p < 0.05). Multiple regression analysis revealed that pulmonary function parameters accounted for 71% of the variance in handgrip strength, 47% in leg strength, and 71% in back strength (p < 0.05). Conclusions: These findings highlight the strong associations between pulmonary function and isometric muscle strength in elite karate athletes. The results emphasize the importance of pulmonary health and respiratory muscle function in athletic performance, particularly for sports requiring high-intensity, dynamic movements like karate. Future longitudinal studies are needed to explore the mechanisms underlying the association and potential implications, and for training and performance optimization. Full article

Background: The deep head of the masseter muscle (DHMM) is an underrecognized anatomical structure, frequently absent from standard anatomical references and often overlooked in maxillofacial surgical planning. Its morphological variability, spatial complexity, and relationship with neurovascular structures carry significant implications for imaging interpretation, diagnosis, and surgical outcomes. Objective: The objective of this paper is to synthesize current anatomical, embryological, and radiological knowledge on the DHMM, and to introduce a refined morphological classification with direct clinical and surgical relevance. Methods: A comprehensive literature review was performed, incorporating cadaveric dissections, radiological imaging (MRI, DTI, HRUS, CT), and clinical case reports. Emphasis was placed on anatomical variability, radiological detectability, and surgical accessibility. Based on these findings, a three-type classification with clinically relevant subtypes was formulated and correlated with imaging features and procedural risk. Results: The DHMM can be categorized into three principal types: Type I—classical form with fascial separation; Type II—fused with the medial pterygoid; Type III—segmented into two muscular bellies. Each type may present a subtype b, characterized by neurovascular penetration, which significantly increases surgical risk and alters procedural strategy. MRI and high-resolution ultrasonography were identified as the most reliable modalities for in vivo differentiation, with HRUS providing additional value for dynamic and volumetric assessment. Conclusions: Recognition of DHMM morphology, including high-risk neurovascular subtypes, is essential for accurate diagnosis, surgical planning, and prevention of complications. The proposed classification offers a reproducible framework for imaging standardization, surgical risk stratification, and integration into anatomical atlases and clinical guidelines. Full article

Background: Cardiopulmonary exercise testing (CPET) is increasingly recognized as a key tool for evaluating patients with congenital heart disease (CHD). While traditional assessments focus on resting parameters, CPET provides dynamic, integrated insight into cardiovascular, respiratory, and muscular function during exertion. Objectives: This review explores the clinical value of CPET across the spectrum of CHD, with dedicated focus on its applications in both adult and paediatric populations. We analyse the prognostic significance of key CPET parameters—particularly peak oxygen consumption (peak VO₂), ventilatory efficiency (VE/VCO₂ slope), and heart rate dynamics—within distinct anatomical and physiological categories of CHD. Findings: CPET reliably detects exercise intolerance, guides intervention timing, informs exercise prescription, and stratifies risk. Peak VO₂ and heart rate reserve are consistently associated with adverse outcomes across most CHD types. However, the prognostic utility of other variables, such as the VE/VCO₂ slope, varies with pathophysiology—being less reliable in cyanotic lesions like Eisenmenger syndrome. In paediatric patients, CPET must be adapted to growth-related physiological variability and is increasingly used to assess quality of life, functional limitation, and response to therapy. Conclusions: CPET is a powerful, non-invasive tool that should be integrated into routine management of CHD patients across all ages. It enhances risk assessment, supports tailored care, and promotes safe physical activity, ultimately contributing to improved long-term outcomes and quality of life. Full article

Post-stroke rehabilitation has evolved to encompass advanced approaches that aim to optimize recovery for ischemic stroke survivors. Despite this progress, recovery remains limited, partly due to persistent oxidative stress and mitochondrial dysfunction that contribute to neuronal and muscular impairment. One such promising avenue is the stimulation of antioxidant capacity and the enhancement of mitochondrial function. Mitochondria are crucial for energy production and neuroprotection, which are essential for neurorecovery. This review explores the mechanisms involved in the role of mitochondrial function and antioxidant therapies, focusing on motor recovery after ischemic stroke and “brain-muscle axis” interplay in post-stroke rehabilitation. A comprehensive synthesis of clinical trial data is provided, highlighting interventions targeting mitochondrial bioenergetics, redox regulation, and mitochondrial dynamics. Furthermore, the review delves into the potential of recent mitochondrial-targeted therapies as adjuncts to traditional rehabilitation techniques, providing a more holistic approach to recovery. Emerging evidence suggests these therapies can reduce oxidative injury and support neuroplasticity; however, translation into consistent clinical benefit remains uncertain due to heterogeneity in study designs, endpoints, and patient populations. By understanding and leveraging the dynamics of mitochondrial function, healthcare providers can significantly enhance the rehabilitation outcomes for people with a range of conditions, from musculoskeletal disorders to neurological impairments. Full article

Laboratory-based assessment of cardiorespiratory function is a widely applied method in sports science. Most performance evaluations focus on oxygen uptake parameters. Despite the well-established concept of oxygen deficit introduced by Hill in the 1920s, relatively few studies have examined its behavior during submaximal exercise, with limited exploration of deficit dynamics. The present study aimed to analyze the behavior of oxygen deficit in young female handball players (N = 42, age: 15.4 ± 1.3 years) during graded exercise. Oxygen deficit was estimated using the American College of Sports Medicine (ACSM) algorithm, restricted to subanaerobic threshold segments of a quasi-ramp exercise protocol. Cardiorespiratory parameters were measured with the spiroergometry test on treadmills, and body composition was assessed via Dual Energy X-ray Absorptiometry (DEXA). Cluster and principal component analyzes revealed two distinct athlete profiles with statistically significant differences in both morphological and physiological traits. Cluster 2 showed significantly higher relative VO₂ peak (51.43 ± 3.70 vs. 45.70 ± 2.87 mL·kg⁻¹·min⁻¹; p < 0.001; Cohen’s d = 1.76), yet also exhibited a greater oxygen deficit per kilogram (39.03 ± 16.71 vs. 32.56 ± 14.33 mL·kg⁻¹; p = 0.018; d = 0.80). Cluster 1 had higher absolute body mass (69.67 ± 8.13 vs. 59.66 ± 6.81 kg; p < 0.001), skeletal muscle mass (p < 0.001), and fat mass (p < 0.001), indicating that body composition strongly influenced oxygen deficit values. The observed differences in oxygen deficit profiles suggest a strong influence of genetic predispositions, particularly in cardiovascular and muscular oxygen utilization capacity. Age also emerged as a critical factor in determining the potential for adaptation. Oxygen deficit during submaximal exercise appears to be a multifactorial phenomenon shaped by structural and physiological traits. While certain influencing factors can be modified through training, others especially those of genetic origin pose inherent limitations. Early development of cardiorespiratory capacity may offer the most effective strategy for long-term optimization. Full article

Background: Dog agility is a rapidly growing sport involving a partnership between a dog and the handler, running through an obstacle course. Despite its increasing popularity and physical benefits, research on handler injuries remains limited. This study aimed to assess injury epidemiology of athletes practicing dog agility. Methods: This cross-sectional study was conducted using a comprehensive online survey consisting of 124 items, available in both English and Italian. The questionnaire was divided into four sections: Introduction collected demographic data and medical history; Materials and Methods focused on agility-related activities; Results explored injuries sustained in the past 12 months; Discussion examined training habits unrelated to agility. Results: Among 389 participants, the most represented age group ranged between 30 and 40 years old. Overall, 7% reported upper limb injuries, while 27% experienced at least one lower limb injury. Additionally, 20% of participants used medication, and 25% reported at least one chronic illness. On average, handlers trained twice per week and competed in two events per month. Lower limb injuries were predominantly muscular (49%) or ligamentous (14%) and most commonly occurred on grass pitches (56%). These injuries were more common in participants with a higher BMI, those using dynamic handling styles, and those competing at higher levels. Conclusions: This cross-sectional study highlighted the importance of identifying risk factors associated with dog agility handlers. Lower limb injuries were the most common, often associated with increased physical demands and handling styles involving intensive running and correlated with reduced physical fitness. Athletic conditioning, including structured warm-up and cool-down practices, might help decline injury risks. Full article

Pelvic organ prolapse (POP) is a common pelvic floor disorder with substantial impact on women’s quality of life, necessitating accurate and reproducible diagnostic methods. This study investigates the use of three-dimensional (3D) transperineal ultrasound, integrated with artificial intelligence (AI), to evaluate pelvic floor biomechanics and identify correlations between biometric parameters and prolapse severity. Thirty-seven female patients diagnosed with genital prolapse (mean age: 65.3 ± 10.6 years; mean BMI: 29.5 ± 3.8) were enrolled. All participants underwent standardized 3D transperineal ultrasound using the Mindray Smart Pelvic system, an AI-assisted imaging platform. Key biometric parameters—anteroposterior diameter, laterolateral diameter, and genital hiatus area—were measured under three functional states: rest, maximal Valsalva maneuver, and voluntary pelvic floor contraction. Additionally, two functional indices were derived: the distensibility index (ratio of Valsalva to rest) and the contractility index (ratio of contraction to rest), reflecting pelvic floor elasticity and muscular function, respectively. Statistical analysis included descriptive statistics and univariate correlation analysis using Pelvic Organ Prolapse Quantification (POP-Q) system scores. Results revealed a significant correlation between laterolateral diameter and prolapse severity across multiple compartments and functional states. In apical prolapse, the laterolateral diameter measured at rest and during both Valsalva and contraction showed positive correlations with POP-Q point C, indicating increasing transverse pelvic dimensions with more advanced prolapse (e.g., r = 0.42 to 0.58; p < 0.05). In anterior compartment prolapse, the same parameter measured during Valsalva and contraction correlated significantly with POP-Q point AA (e.g., r = 0.45 to 0.61; p < 0.05). Anteroposterior diameters and genital hiatus area were also analyzed but showed weaker or inconsistent correlations. AI integration facilitated real-time image segmentation and automated measurement, reducing operator dependency and increasing reproducibility. These findings highlight the laterolateral diameter as a strong, reproducible anatomical marker for POP severity, particularly when assessed dynamically. The combined use of AI-enhanced imaging and functional indices provides a novel, standardized, and objective approach for assessing pelvic floor dysfunction. This methodology supports more accurate diagnosis, individualized management planning, and long-term monitoring of pelvic floor disorders. Full article

Targeting fibrosis in Duchenne muscular dystrophy (DMD)-associated cardiomyopathy is a critical outstanding clinical issue, as cardiac failure remains a leading cause of death despite advances in supportive care. This study evaluates the therapeutic efficacy of CSPG4-targeted chimeric antigen receptor (CAR) T cells in reducing cardiac fibrosis and improving heart function in a preclinical model of the disease. DMD is a progressive genetic disorder characterized by degeneration of skeletal and cardiac muscle. Cardiomyopathy, driven by fibrosis and chronic inflammation, is a leading contributor to mortality in affected patients. Proteoglycans such as CSPG4, critical regulators of extracellular matrix dynamics, are markedly overexpressed in dystrophic hearts and promote pathological remodeling. Current treatments do not adequately target the fibrotic and inflammatory processes underlying cardiac dysfunction. CSPG4-specific CAR-T cells were engineered and administered to dystrophic mice. Therapeutic efficacy was assessed through histological, molecular, and echocardiographic analyses evaluating cardiac fibrosis, inflammation, innervation, and overall function. Treatment with CSPG4 CAR-T cells preserved myocardial integrity, improved cardiac performance, and reduced both fibrosis and inflammatory markers. The therapy also restored cardiac innervation, indicating a reversal of neural remodeling commonly seen in muscular dystrophy-related cardiomyopathy. CSPG4-targeted CAR-T therapy offers a novel, cell-based strategy to mitigate cardiac remodeling in dystrophic hearts. By addressing core fibrotic and inflammatory drivers of disease, this approach represents a significant advancement in the development of precision immune therapies for muscular dystrophies and cardiovascular conditions. Full article

Amyotrophic lateral sclerosis (ALS) is a progressive disease that degeneratively damages both upper and lower motor neurons, eventually resulting in muscular paralysis and death. Although ALS is broad in scope and commonly thought of as a motor neuron disease, more active research sheds light on the that role skeletal muscle plays in the development and progression of the disease. Muscle tissue in ALS patients and in animal models demonstrates severe regenerative deficits, including impaired myogenesis and impaired myoblast fusion. In ALS, muscle stem cells, known as satellite cells, show poor performance in activation, proliferation, and differentiation and thus contribute to ALS muscle wasting. Moreover, the pathological tissue environment that inhibits myoblast fusion is made up of proinflammatory cytokines, oxidative stress, and a lack of trophic signals from the neuromuscular junction, which greatly disrupts homeostatic regulation. It is likely that skeletal muscle is instead a dynamic player, fueling neuromuscular degeneration as opposed to a passive responder to denervation. One must appreciate the cellular and molecular changes that complicate muscle regeneration in ALS for effective treatment to be developed, permitting simultaneous interventions with both muscle and neurons. Full article

Stroke is one of the leading causes of long-term disability worldwide, often resulting in motor impairments that limit the ability to perform daily activities independently. Conventional rehabilitation exoskeletons, while effective, are typically rigid, bulky, and expensive, limiting their usability outside of clinical settings. In response to these challenges, this work presents the development and validation of a novel soft exosuit designed for elbow flexion rehabilitation, incorporating a multi-wire Shape Memory Alloy (SMA) actuator capable of both position and force control. The proposed system features a lightweight and ergonomic textile-based design, optimized for user comfort, ease of use, and low manufacturing cost. A sequential activation strategy was implemented to improve the dynamic response of the actuator, particularly during the cooling phase, which is typically a major limitation in SMA-based systems. The performance of the multi-bundle actuator was compared with a single-bundle configuration, demonstrating superior trajectory tracking and reduced thermal accumulation. Surface electromyography tests confirmed a decrease in muscular effort during assisted flexion, validating the device’s assistive capabilities. With a total weight of 0.6 kg and a fabrication cost under EUR 500, the proposed exosuit offers a promising solution for accessible and effective home-based rehabilitation. Full article