Artificial intelligence (AI) has shown promise in detecting and characterizing musculoskeletal diseases from radiographs. However, most existing models remain task-specific, annotation-dependent, and limited in generalizability across diseases and anatomical regions. Although a generalizable foundation model trained on large-scale musculoskeletal radiographs is clinically needed, publicly available datasets remain limited in size and lack sufficient diversity to enable training across a wide range of musculoskeletal conditions and anatomical sites. Here, we present SKELEX, a large-scale foundation model for musculoskeletal radiographs, trained using self-supervised learning on 1.2 million diverse, condition-rich images. The model was evaluated on 12 downstream diagnostic tasks and generally outperformed baselines in fracture detection, osteoarthritis grading, and bone tumor classification. Furthermore, SKELEX demonstrated zero-shot abnormality localization, producing error maps that identified pathologic regions without task-specific training. Building on this capability, we developed an interpretable, region-guided model for predicting bone tumors, which maintained robust performance on independent external datasets and was deployed as a publicly accessible web application. Overall, SKELEX provides a scalable, label-efficient, and generalizable AI framework for musculoskeletal imaging, establishing a foundation for both clinical translation and data-efficient research in musculoskeletal radiology.
Musculoskeletal ultrasound has become a valuable imaging tool in the diagnosis and management of rheumatologic disorders. Expertise in recognizing sonographic findings of pathology is the basis for its successful application in clinical use. This article will provide descriptions and a pictorial essay of ultrasound findings in common musculoskeletal manifestations of rheumatologic disorders.
Abstract Background In-silico and in-vitro studies have revealed an appropriate posterior tibial slope (PTS) is critical for normal anterior cruciate ligament (ACL) and posterior cruciate ligament (PCL) tension and knee biomechanical behavior of unicompartmental knee arthroplasty (UKA). However, the effects of PTS on in-vivo elongation of ACL and PCL in UKA remains unknown. The study aimed to quantify in-vivo ACL and PCL elongations during lunge and analyze their relations with PTS. Methods Thirteen fixed-bearing (FB) and 11 mobile-bearing (MB) UKA patients were recruited. The postoperative medial PTS was defined as the angle between the tibial transverse plane (perpendicular to mechanical axis) and cut plane. Accurate knee spatial postures of UKA and contralateral native knees during single-leg lunge were measured by the dual fluoroscopic imaging system. The ACL (AM, PL bundles) and PCL (AL, PM bundles) footprints were determined based on anatomical features on femoral and tibial 3D surface model reconstructed from CT. A validated 3D wrapping method was used to measure ligament bundle length. The paired Wilcoxon signed-rank test was used to analyze the ligament elongation difference between bilateral knees. The Spearman correlation between PTS and average ligament elongation difference (ACL during 0–30° early-flexion, PCL during 60–100° deep-flexion) was calculated. Results The elongation of FB UKA PCL double-bundle was larger than contralateral sides in most flexion range of lunge (Max-Difference: AL 7.6 ± 8.7%, PM 8.2 ± 5.1%, p < 0.05). In contrast, ACL double-bundle elongations of MB UKA in mid-flexion were larger than contralateral sides (Max-Difference: AM 8.0 ± 8.1%, PL 7.6 ± 9.8%, p < 0.05). The increased PTS was significantly relevant to the increased ACL double-bundle elongation difference of bilateral knees for both FB and MB UKA patients (R > 0.6, p < 0.05). Conclusion There was abnormal in-vivo elongation of PCL in FB UKA and ACL in MB UKA during lunge and cause over-constraints to the contralateral knee. There was a positive correlation between PTS and ACL elongation difference for both FB and MB UKA, indicating excessive PTS should be avoided to preserve native ACL function in further UKA implantation. Levels of Evidence III.
Kristine Godziuk, Mary Forhan, Flavio T. Vieira
et al.
ABSTRACT Background Treatments aimed at improving physical function and body composition, including reducing fat mass (FM) and increasing muscle mass, may benefit individuals with advanced knee osteoarthritis (OA) and obesity. We investigated the feasibility and efficacy of a multimodal behavioural intervention compared to usual care to enhance physical function and muscle mass in this population. Methods The POMELO (Prevention Of MusclE Loss in Osteoarthritis) study is a two‐arm pilot randomized controlled trial; NCT05026385. Participants aged 40–75 years, with a BMI ≥ 35 kg/m2 and knee OA were randomized 1:1 to either the intervention group (POMELO) or usual care (UC). The 3‐month POMELO intervention incorporated progressive resistance exercise (3 sessions/week), individualized nutrition counselling targeted for OA, and 12 group education sessions on nutrition and arthritis self‐management. The UC group received standard clinical care. After the 3‐month supervised intervention, both groups were followed for 6 months without support. Assessments at baseline, 3 months and 9 months (primary endpoint) included body composition (DXA, measuring FM and appendicular lean soft tissue [ALST]), physical function (chair‐sit‐to‐stands [CSTS], 6‐min walk [6MWT], maximal handgrip strength [HGS]), and health‐related quality of life (Euroqol visual analog scale [EQ‐5D VAS]). Co‐primary outcomes were feasibility (intervention completion ≥ 80% and per‐protocol adherence ≥ 60% [i.e., attendance at 12 education sessions and exercise 3 ×/week]) and acceptability (4‐item Likert‐scale satisfaction survey, and open‐ended questions). Secondary outcomes included changes in physical function and ALST. Results Fifty participants were randomized (POMELO = 25, UC = 25), with 32 completing the study (69% female, mean age 64.9 ± 1.2 years, BMI 42.1 ± 1.0 kg/m2). The POMELO intervention group had 80% completion and 74% adherence, confirming feasibility. Higher satisfaction rates were observed in POMELO compared to UC (3.5 vs. 2.2, p < 0.001) indicating greater acceptability. The POMELO group had improvements in CSTS (mean difference [MD] 3.96, ES 1.2, p < 0.001), 6MWT (MD 31.6 m, ES 0.4, p = 0.039) and EQ‐5D VAS (MD 7.9 points, ES = 0.4, p = 0.01) compared to UC. Both groups experienced FM loss, but only the UC group lost ALST and HGS. Conclusion The POMELO intervention, combining personalized nutrition, resistance exercise and self‐management support, was feasible, acceptable and showed greater efficacy than usual care to improve physical function in patients with knee OA and obesity. Our pilot study of this intervention showed potential benefits on body composition and quality of life without focusing on weight reduction. A larger study is needed to confirm these results, as this approach may offer advantages over usual care, potentially leading to better mobility and health outcomes.
Diseases of the musculoskeletal system, Human anatomy
Abstract Background Elite female basketball players experience a high incidence of lower-limb injuries, yet evidence remains limited regarding the applicability of common functional performance tests in this population. This study aimed (1) to compare the performance of the Functional Movement Screen (FMS), Landing Error Scoring System (LESS), and Y-Balance Test (YBT) between athletes with and without knee or ankle/foot injuries, and (2) to examine the correlations among these three functional performance tests. Methods Eighteen elite female basketball players from the Chinese National Team completed three functional performance tests: FMS, LESS, and YBT. Differences in total and subtest scores between injured and non-injured athletes were analyzed using independent samples t-tests and the Mann–Whitney U test. Spearman correlation analysis was conducted to examine relationships among the three tests. Results No significant differences were found in total FMS, LESS, or YBT scores between injured and non-injured athletes. However, a large effect size suggested a potential clinical trend between knee injuries and total FMS scores, and the FMS Deep Squat subtest significantly differentiated athletes with knee injuries. No significant correlations were observed among FMS, LESS, and YBT scores. Conclusion The FMS Deep Squat component may help identify knee-related functional limitations in elite female basketball players, while the three tests collectively provide complementary perspectives on movement quality assessment in applied settings. However, given the small sample and cross-sectional design, these findings should be interpreted as exploratory and warrant validation in larger, prospective studies.
Abstract Background The occurrence of arrhythmias as a complication of Kawasaki disease (KD) is extremely rare. Moreover, previous literature showed a low incidence of arrhythmias during the acute phase of KD, and the majority occurred in the subacute and chronic phases. To date, we have found only 17 sporadically reported global cases in the available literature. Case presentation We present the first documented case of an infant with KD complicated with supraventricular tachycardia (Atrioventricular reentrant tachycardia) during the acute phase. The arrhythmia resolved promptly after the combination therapy of intravenous Immunoglobulin (IVIG) and steroids during the acute phase since the inflammation subsided. Additionally, we conducted a review and summary of cases involving KD-related arrhythmias. Conclusions KD rarely causes arrhythmias, which might be associated with myocarditis and myocardial ischemia attributed to scar formation and/or excessive inflammatory factors damaging the conduction system. Strengthening the early identification and management of complications in patients with KD and personalized follow-up strategies for high-risk children during the chronic phase can enhance patients’ prognosis.
Pediatrics, Diseases of the musculoskeletal system
Silvia Palombella, Silvia Lopa, Camilla Recordati
et al.
Abstract Background Osteoarthritis is a common degenerative joint disease marked by cartilage degeneration and inflammation. This study investigates the therapeutic potential of adipose-derived stromal cells (ASCs) and their secretome in a rat model of osteoarthritis. Methods ASCs were extracted from human adipose tissue, cultured, and primed with human platelet lysate. The secretome was collected after 48 h of serum-free culture. Osteoarthritis was induced in rats using monosodium iodoacetate, and after 14 days, they were treated with saline solution, ASCs, or secretome. Over five weeks, body weight and histopathological changes were monitored. Results No clinical complications arose post-treatment, and all rats gained weight similarly. ASC treatment increased histopathological changes associated with osteoarthritis, including severe cartilage necrosis and bone remodeling. Conversely, the secretome treatment resulted in mild to moderate cartilage degeneration, similar to that observed in the control group. These findings suggest that ASCs may contribute to disease progression in this model, while the secretome did not show significant effects on cartilage histology compared to the control group. Further studies are needed to determine whether optimizing the secretome composition or dosing could enhance its therapeutic potential. Conclusions This study highlights the complexity of ASC interactions with the immune system, while secretome may be a well-tolerated treatment, further studies are needed to determine its potential therapeutic benefits.
Abstract Background Anterior cervical corpectomy and fusion (ACCF) with Traditional Titanium Mesh Cages (TTMCs) can lead to complications such as cage subsidence, dysphagia, and implant-related issues. These complications suggest that the biomechanical stability of ACCF with TTMC may be insufficient. This study aims to evaluate whether a New Assembled Titanium Mesh Cage (NTMC) can improve the biomechanical performance after ACCF. Methods ACCF procedures using both TTMC and NTMC models were constructed and compared. The range of motion (ROM) of the surgical segments and stress peaks in various regions including the endplate, bone-screw interface, facet joints, and adjacent intervertebral discs were analyzed. Results The use of NTMC significantly reduced the postoperative ROM of the surgical segments by 80.7%-82.0% compared to ACCF with TTMC. Additionally, stress peaks at the endplate, bone-screw interface, and facet contact force (FCF) were higher in ACCF with TTMC compared to NTMC. TTMC also induced higher stress peaks in the C3/4 and C6/7 intervertebral discs (ranging from 0.2009–6.961 MPa and 0.2477–4.735 MPa, respectively), followed by the NTMC (ranging from 0.1322–3.820 MPa and 0.2227–4.104 MPa, respectively). Conclusions The utilization of NTMC, which includes enlarged spacers and emulates endplate geometries, effectively reduces the risks of cage subsidence and instrument-related complications in ACCF. Furthermore, ACCF with NTMC also decreases the risks of dysphagia, facet joint degeneration, and adjacent disc degeneration during the follow-up period by altering the fixing method while maintaining construct stability.
Martina Paccini, Simone Cammarasana, Giuseppe Patanè
Musculoskeletal disorders (MSDs) are a leading cause of disability worldwide, requiring advanced diagnostic and therapeutic tools for personalised assessment and treatment. Effective management of MSDs involves the interaction of heterogeneous data sources, making the Digital Twin (DT) paradigm a valuable option. This paper introduces the Musculoskeletal Digital Twin (MS-DT), a novel framework that integrates multiscale biomechanical data with computational modelling to create a detailed, patient-specific representation of the musculoskeletal system. By combining motion capture, ultrasound imaging, electromyography, and medical imaging, the MS-DT enables the analysis of spinal kinematics, posture, and muscle function. An interactive visualisation platform provides clinicians and researchers with an intuitive interface for exploring biomechanical parameters and tracking patient-specific changes. Results demonstrate the effectiveness of MS-DT in extracting precise kinematic and dynamic tissue features, offering a comprehensive tool for monitoring spine biomechanics and rehabilitation. This framework provides high-fidelity modelling and real-time visualization to improve patient-specific diagnosis and intervention planning.
The human foot serves as the critical interface between the body and environment during locomotion. Existing musculoskeletal models typically oversimplify foot-ground contact mechanics, limiting their ability to accurately simulate human gait dynamics. We developed a novel contact-rich and deformable model of the human foot integrated within a complete musculoskeletal system that captures the complex biomechanical interactions during walking. To overcome the control challenges inherent in modeling multi-point contacts and deformable material, we developed a two-stage policy training strategy to learn natural walking patterns for this interface-enhanced model. Comparative analysis between our approach and conventional rigid musculoskeletal models demonstrated improvements in kinematic, kinetic, and gait stability metrics. Validation against human subject data confirmed that our simulation closely reproduced real-world biomechanical measurements. This work advances contact-rich interface modeling for human musculoskeletal systems and establishes a robust framework that can be extended to humanoid robotics applications requiring precise foot-ground interaction control.
Abstract Background Ankylosing spondylitis (AS) has been known to have auto-inflammatory nature; hence, the efficacy of autoantibodies is low. However, studies on autoantibodies are ongoing, with some studies showing associations. Previous studies showed that anti-protein phosphatase magnesium-dependent 1A (PPM1A) IgG was increased in patients with AS and associated with radiographic progression. However, the diagnostic usefulness was limited due to relatively low sensitivity and specificity. This pilot study evaluated the diagnostic utility of anti-PPM1A-IgM and anti-PPM1A-IgG in patients with active AS. Methods Serum samples were obtained from the registry cohort of a single tertiary center in Korea. Serum levels of anti-PPM1A-IgG/IgM were measured by direct ELISA. Receiver operating characteristic (ROC) analysis was used to predict the diagnostic sensitivity and specificity of serum anti-PPM1A-IgG/IgM. Results Samples were collected from 28 patients with active AS, 16 healthy controls (HCs), and 28 patients with rheumatoid arthritis (RA). Although total serum IgM was lower in the RA and AS groups than in the HC group, anti-PPM1A-IgM was significantly lower in the AS group than in the other groups. In evaluating the diagnostic utility of anti-PPM1A-IgG/IgM for AS patients compared with HCs, the area under the curve (AUC) of anti-PPM1A-IgM was 0.998 (sensitivity 96.4%, specificity 100.0%). When ROC analysis of anti-PPM1A-IgM for AS patients compared with RA patients was conducted, sensitivity was 78.6% and specificity was 71.4%, with an AUC of 0.839. Conclusion Decreased anti-PPM1A-IgM levels in AS patients suggests a potential role for anti-PPM1A-IgM in the diagnosis of active AS.
Diseases of the musculoskeletal system, Immunologic diseases. Allergy
Abstract Background There is increasing evidence that myosteatosis, which is currently not assessed in clinical routine, plays an important role in risk estimation in individuals with impaired glucose metabolism, as it is associated with the progression of insulin resistance. With advances in artificial intelligence, automated and accurate algorithms have become feasible to fill this gap. Methods In this retrospective study, we developed and tested a fully automated deep learning model using data from two prospective cohort studies (German National Cohort [NAKO] and Cooperative Health Research in the Region of Augsburg [KORA]) to quantify myosteatosis on whole‐body T1‐weighted Dixon magnetic resonance imaging as (1) intramuscular adipose tissue (IMAT; the current standard) and (2) quantitative skeletal muscle (SM) fat fraction (SMFF). Subsequently, we investigated the two measures for their discrimination of and association with impaired glucose metabolism beyond baseline demographics (age, sex and body mass index [BMI]) and cardiometabolic risk factors (lipid panel, systolic blood pressure, smoking status and alcohol consumption) in asymptomatic individuals from the KORA study. Impaired glucose metabolism was defined as impaired fasting glucose or impaired glucose tolerance (140–200 mg/dL) or prevalent diabetes mellitus. Results Model performance was high, with Dice coefficients of ≥0.81 for IMAT and ≥0.91 for SM in the internal (NAKO) and external (KORA) testing sets. In the target population (380 KORA participants: mean age of 53.6 ± 9.2 years, BMI of 28.2 ± 4.9 kg/m2, 57.4% male), individuals with impaired glucose metabolism (n = 146; 38.4%) were older and more likely men and showed a higher cardiometabolic risk profile, higher IMAT (4.5 ± 2.2% vs. 3.9 ± 1.7%) and higher SMFF (22.0 ± 4.7% vs. 18.9 ± 3.9%) compared to normoglycaemic controls (all P ≤ 0.005). SMFF showed better discrimination for impaired glucose metabolism than IMAT (area under the receiver operating characteristic curve [AUC] 0.693 vs. 0.582, 95% confidence interval [CI] [0.06–0.16]; P < 0.001) but was not significantly different from BMI (AUC 0.733 vs. 0.693, 95% CI [−0.09 to 0.01]; P = 0.15). In univariable logistic regression, IMAT (odds ratio [OR] = 1.18, 95% CI [1.06–1.32]; P = 0.004) and SMFF (OR = 1.19, 95% CI [1.13–1.26]; P < 0.001) were associated with a higher risk of impaired glucose metabolism. This signal remained robust after multivariable adjustment for baseline demographics and cardiometabolic risk factors for SMFF (OR = 1.10, 95% CI [1.01–1.19]; P = 0.028) but not for IMAT (OR = 1.14, 95% CI [0.97–1.33]; P = 0.11). Conclusions Quantitative SMFF, but not IMAT, is an independent predictor of impaired glucose metabolism, and discrimination is not significantly different from BMI, making it a promising alternative for the currently established approach. Automated methods such as the proposed model may provide a feasible option for opportunistic screening of myosteatosis and, thus, a low‐cost personalized risk assessment solution.
Diseases of the musculoskeletal system, Human anatomy
Moez Dawood, Ben Heavner, Marsha M. Wheeler
et al.
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis. The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium was initiated to study thousands of challenging rare disease cases and families and apply, standardize, and evaluate emerging genomics technologies and analytics to accelerate their adoption in clinical practice. Further, all data generated, currently representing ~7500 individuals from ~3000 families, is rapidly made available to researchers worldwide via the Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL) to catalyze global efforts to develop approaches for genetic diagnoses in rare diseases (https://gregorconsortium.org/data). The majority of these families have undergone prior clinical genetic testing but remained unsolved, with most being exome-negative. Here, we describe the collaborative research framework, datasets, and discoveries comprising GREGoR that will provide foundational resources and substrates for the future of rare disease genomics.
Snehasis Banerjee, Sayan Paul, Ruddradev Roychoudhury
et al.
This article presents Teledrive, a telepresence robotic system with embodied AI features that empowers an operator to navigate the telerobot in any unknown remote place with minimal human intervention. We conceive Teledrive in the context of democratizing remote care-giving for elderly citizens as well as for isolated patients, affected by contagious diseases. In particular, this paper focuses on the problem of navigating to a rough target area (like bedroom or kitchen) rather than pre-specified point destinations. This ushers in a unique AreaGoal based navigation feature, which has not been explored in depth in the contemporary solutions. Further, we describe an edge computing-based software system built on a WebRTC-based communication framework to realize the aforementioned scheme through an easy-to-use speech-based human-robot interaction. Moreover, to enhance the ease of operation for the remote caregiver, we incorporate a person following feature, whereby a robot follows a person on the move in its premises as directed by the operator. Moreover, the system presented is loosely coupled with specific robot hardware, unlike the existing solutions. We have evaluated the efficacy of the proposed system through baseline experiments, user study, and real-life deployment.
Kento Kawaharazuka, Akihiro Miki, Yasunori Toshimitsu
et al.
One of the important advantages of musculoskeletal humanoids is that the muscle arrangement can be easily changed and the number of muscles can be increased according to the situation. In this study, we describe an overall system of muscle addition for musculoskeletal humanoids and the adaptive body schema learning while taking into account the additional muscles. For hardware, we describe a modular body design that can be fitted with additional muscles, and for software, we describe a method that can learn the changes in body schema associated with additional muscles from a small amount of motion data. We apply our method to a simple 1-DOF tendon-driven robot simulation and the arm of the musculoskeletal humanoid Musashi, and show the effectiveness of muscle tension relaxation by adding muscles for a high-load task.
Kento Kawaharazuka, Kei Tsuzuki, Moritaka Onitsuka
et al.
While the musculoskeletal humanoid has various biomimetic benefits, the modeling of its complex structure is difficult, and many learning-based systems have been developed so far. There are various methods, such as control methods using acquired relationships between joints and muscles represented by a data table or neural network, and state estimation methods using Extended Kalman Filter or table search. In this study, we construct a Musculoskeletal AutoEncoder representing the relationship among joint angles, muscle tensions, and muscle lengths, and propose a unified method of state estimation, control, and simulation of musculoskeletal humanoids using it. By updating the Musculoskeletal AutoEncoder online using the actual robot sensor information, we can continuously conduct more accurate state estimation, control, and simulation than before the online learning. We conducted several experiments using the musculoskeletal humanoid Musashi, and verified the effectiveness of this study.
Kento Kawaharazuka, Shogo Makino, Kei Tsuzuki
et al.
To develop Musashi as a musculoskeletal humanoid platform to investigate learning control systems, we aimed for a body with flexible musculoskeletal structure, redundant sensors, and easily reconfigurable structure. For this purpose, we develop joint modules that can directly measure joint angles, muscle modules that can realize various muscle routes, and nonlinear elastic units with soft structures, etc. Next, we develop MusashiLarm, a musculoskeletal platform composed of only joint modules, muscle modules, generic bone frames, muscle wire units, and a few attachments. Finally, we develop Musashi, a musculoskeletal humanoid platform which extends MusashiLarm to the whole body design, and conduct several basic experiments and learning control experiments to verify the effectiveness of its concept.
Recent technological progress has greatly advanced our understanding of human immunology. In particular, the discovery of human T follicular helper (Tfh) and T peripheral helper (Tph) cells has significantly advanced our understanding of human adaptive immune system. Tfh and Tph cells share similar molecular characteristics and both play critical roles in B cell differentiation and maturation. However, they differ in their functional properties, such as chemokine receptor expression and cytokine production. As a result, Tfh cells are mainly involved in B cell differentiation and maturation in germinal centres of secondary lymphoid tissues, while Tph cells are involved in B cell differentiation and tissue damage in peripheral inflammatory lesions. Importantly, the involvement of Tfh and Tph cells in the pathogenesis of rheumatic and musculoskeletal diseases has become clear. In rheumatoid arthritis and systemic lupus erythematosus, Tph cell infiltration is predominant in peripheral inflammatory lesions, whereas Tfh cell infiltration is predominant in the affected lesions of IgG4-related disease. Therefore, the contribution of Tfh and Tph cells to the development of rheumatic and musculoskeletal diseases varies depending on each disease. In this review, we provide an overview of human Tfh and Tph cells and summarise the latest findings on these novel T cell subsets in various rheumatic and musculoskeletal diseases.
Fabiola Atzeni, Alessandra Alciati, Shay Brikman
et al.
It has been suggested that diffuse idiopathic skeletal hyperostosis (DISH), a skeletal disease characterized by the ligamentous ossification of the anterolateral spine, is a radiological entity with no clinical implications; however, many patients suffer from chronic back pain, decreased spinal mobility, and postural abnormalities. Additionally, the pathological new bone formation at the cervical and thoracic levels may mainly produce dysphagia and breathing disturbances. Over the last 20 years, a close association between DISH, obesity, diabetes mellitus (DM), and metabolic syndrome (MS) has emerged. However, a causal relationship has not yet been established. It has been suggested that the longer life expectancy and the growing incidence of MS in Western populations, associated with the tendency of DISH to manifest in later life, may increase the DISH prevalence rates in the following decades. Future investigations should focus on the early DISH phase to clarify pathogenetic mechanisms and identify targeted therapies.