Radiofrequency echographic multispectrometry assessment of osteoporosis in severe motor and intellectual disabilities: A cross-sectional study.

Formation of post-traumatic and non-traumatic knee joint contracture: Role of macrophage polarization in joint capsule and skeletal muscle.

Paraffin therapy and hydrotherapy are widely used thermal modalities in hand rehabilitation; however, limited evidence directly compares their immediate effects on finger joint contractures. To compare the immediate effects of paraffin therapy and hydrotherapy on finger contractures. Three patients with postoperative or post-traumatic contractures participated. An AB single-case design evaluated the additional effects of paraffin therapy administered after hydrotherapy. Phase A involved hydrotherapy combined with manual therapy, followed by Phase B, comprising paraffin therapy with the same manual therapy. Active flexion and extension angles were measured using a standard goniometer immediately after each session. Participants completed 8 sessions (4 per phase). Time-series data were analyzed using a Bayesian local linear trend (LLT) model. A PND of ≥70% indicated a clinically significant intervention effect. Improvements in total joint range of motion (ROM) occurred in both phases for all participants. Bayesian analysis revealed that during the paraffin phase (Phase B), additional ROM improvements were noted in two participants compared to Phase A (hydrotherapy). PND values indicated a clinically significant intervention effect (≥70%) for most joints in all participants. Administering paraffin therapy as a subsequent intervention to hydrotherapy yielded significant additional improvements in active ROM, demonstrating its effectiveness for finger contractures. Additionally, although the fixed-order design limits causal attribution, this study highlights the value of N-of-1 designs combined with Bayesian analysis for data-driven, individualized clinical decision-making in hand rehabilitation.

Calcinosis Cutis (CaC) represents one of the most frequent and disabling non-lethal manifestations in SSc. Our objectives were to evaluate (1) associations of CaC with SSc clinical characteristics and (2) identify risk factors for CaC development. EUSTAR database-registered SSc patients with available information on their CaC status were included. We compared baseline patient characteristics (with vs without CaC at baseline) and investigated predictors of CaC development at 5 and 10 years (in those without baseline CaC) with logistic regression analyses. A total of 7114 SSc patients were included. At baseline, 11.9% had CaC. Among 1010 and 997 patients without baseline CaC, 40% and 46% developed CaC within 5 years and 10 years, respectively. Patients with CaC were more frequently female, had longer disease duration, higher modified Rodnan Skin Score, telangiectasia, digital ischaemia, late capillaroscopy patterns, joint contractures, tendon friction rubs, gastrointestinal involvement (all P < 0.001), pulmonary arterial hypertension (PAH) (P = 0.02), joint synovitis, and renal crisis (both P = 0.04). CaC patients had a higher frequency of ACA and anti-PM/Scl antibody positivity (P < 0.001; P = 0.03, respectively). Predictors for the development of CaC at 5 years included longer disease duration [odds ratio (OR) 1.04], cardiac involvement (OR 1.63), late capillaroscopy pattern (OR 1.70), telangiectasia (OR 1.92), digital ulcers (OR 2.60), and PAH (OR 2.10). Predictors at 10 years included longer disease duration (OR 1.03), dcSSc (OR 1.51), female gender (OR 1.85), telangiectasia (OR 1.92), and digital ulcers (OR 2.92). CaC is common and progressive; clinical risk factors may provide insights into the pathogenesis.

Ankle fractures are common orthopaedic injuries with wide variability in recovery duration and outcome. While long-term outcomes are well documented, less is known about the short-term recovery period. An updated analysis using claims data would provide greater clarity on short-term recovery patterns. The study aimed to characterise recovery duration after treatment for ankle fracture and to evaluate associations between comorbidities, perioperative complications, additional procedures and healthcare costs. Healthcare claims from the IBM MarketScan database (2015-2018) were analysed to determine recovery costs for the index treatment and subsequent events including revision surgery, motion restoring surgery (MRS), rehospitalizations, and complication-related interventions. Recovery duration was defined as the interval between the initial surgery/treatment and the final physical/occupational therapy claim. Outcomes were summarised using medians and interquartile ranges (IQR). Among 7,112 patients, the median index treatment cost was $5163 (IQR: $994-$12,444), and the recovery duration was 88 days (IQR: 36-492). Thirty-eight percent of patients required more than 6 months to complete recovery. Post-treatment complications were associated with markedly longer and more expensive recovery. Patients who required a complication-related surgery had a recovery duration that was 4 times longer and incurred costs that were 8 times greater than those without such events. Joint contracture and MRS were strongly associated with prolonged and costly recoveries. This claims‑based analysis identified wide variation in short‑term recovery after ankle fracture. Strong associations were demonstrated between complications, including joint contracture, MRS and rehospitalizations, and extended recovery duration and higher costs. These findings may help clinicians identify patients at risk for delayed recovery and support more informed decision‑making in early post‑treatment care.

Single-Stage Flexor Tendon Reconstruction Using Tendon Grafting Versus Turnover Tendon Split-Lengthening Technique.

Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK.

Perforator flap reconstruction for post-burn flexion contracture of the elbow joint.

Double Opposing Stiletto Flaps for Pediatric Finger Flexion Contractures.

Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single-center cohort of patients with CM and CMD, focusing on long-term outcomes and aiming to identify factors associated with invasive ventilation, feeding tube, and wheelchair dependence. Patients with a diagnosis of CM or CMD evaluated at Children's Health Dallas between 2011 and 2024 were identified using ICD codes and their medical records were reviewed. Genetic, clinical, histopathologic, electrodiagnostic, imaging and laboratory data were collected. There were 145 patients, with the most common genes being RYR1 (29), COL6A1/2/3 (16), MTM1 (16), TTN (15), LAMA2 (14), NEB (12). Of 128 patients above 3 years old, 65 (51%) were ambulatory. Thirty-three of 145 (23%) required invasive ventilation and 50 of 145 (34%) had a feeding tube. The causative gene significantly correlated with ventilation (Cramer's V 0.46, moderate effect, p < 0.001) and feeding tube (Cramer's V 0.48, moderate effect, p < 0.001) dependence, whereas contractures in multiple joints correlated with wheelchair dependence across the cohort (Cramer's V 0.58, large effect, p < 0.001). In this study, the causative gene was the major driver of ventilation and feeding support whereas multiple joint contractures correlated with wheelchair dependence. These results may help guide clinicians in counseling families on respiratory, feeding and ambulatory outcomes; however, prospective multicenter studies are needed to confirm the findings and identify additional prognostic factors.

Collagen VI–related myopathies (COL6-RM) encompass a broad clinical spectrum of inherited neuromuscular disorders ranging from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy, caused by pathogenic variants in COL6A1, COL6A2, and COL6A3. The pathogenic disruptions in collagen VI compromise extracellular matrix stability, impair autophagic flux, promote mitochondrial permeability transition, and alter fibroblast–myofiber signaling. These disorders are characterized by proximal muscle weakness, joint contractures, distal hyperlaxity, and respiratory compromise. Advances in basic science have revealed that collagen VI deficiency disrupts extracellular matrix (ECM) integrity, impairs autophagy, induces mitochondrial dysfunction, and alters the myomatrix microenvironment, collectively driving progressive muscle degeneration. Diagnosis relies on a multimodal approach that integrates clinical assessment with muscle MRI, histopathology, and next-generation sequencing. Management remains largely supportive; however, emerging strategies, including autophagy enhancers, mitochondrial permeability transition pore (mPTP) inhibitors, extracellular matrix–targeting agents, and genebased therapies show promise for disease modification. Advances in molecular biology have reshaped the understanding of COL6-RM and opened new avenues for targeted treatment. Robust natural history studies and biomarker development are needed to accelerate translational progress. The objective is to synthesize current evidence regarding pathogenesis, clinical presentation, diagnostic modalities, and evolving therapeutic approaches in COL6-RM. This review integrates and synthesizes findings from molecular pathogenesis, diagnostic tools, clinical spectrum, imaging studies, and evolving management while highlighting future therapeutic directions with emphasis on recent mechanisms involving extracellular matrix dysfunction, autophagy impairment, mitochondrial dysregulation, and myomatrix remodeling.

Design A cross-sectional study. Setting Patients with burn injuries often present with joint contracture caused by hypertrophic scars. To assess the patient's degree of disability or outcome to rehabilitation treatment, various objective assessment tools are used, such as a standard goniometer, which is often used for measuring joint range of motion; however, measurements using a handheld goniometer may have a large margin of error depending on the therapist's experience. Herein, the reliability and validity of a novel marker-based system were investigated for evaluating joint range of motion in patients with burn injuries. Participants In total, 48 participants with joint contractures in the shoulder, elbow, and wrist owing to hypertrophic scars after thermal injury were enrolled. Intervention Upper extremity joint range of motion was measured using a goniometer and optical motion capture system (Session 1), followed by remeasurement 2 days later (Session 2). Main measures Twenty-two reflective markers were attached to the upper limbs, and motion analysis was measured using eight infrared cameras. Results No statistical differences were detected between the range of motion values measured using the two methods. The measurements based on the optical motion capture system showed excellent intra-rater reliability. Conclusions The findings of this study highlight the value of the motion capture system as a tool to objectively evaluate the joint range of motion in patients with contractures caused by burns. This study was registered at ClinicalTrials.gov (Identifier: NCT05881876).

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterized by early-onset joint contractures, progressive muscle atrophy, and cardiac abnormalities. Patients with EDMD carrying LMNA sequence variations often exhibit severe cardiac manifestations, including frequent atrioventricular block and ventricular tachycardia. Approximately 20% of those patients may ultimately require heart transplantation. The molecular mechanisms by which LMNA sequence variations lead to EDMD remain unknown. Five clinically diagnosed patients with EDMD carrying LMNA sequence variations were recruited. Patient-specific induced pluripotent stem cells (iPSCs) were generated using a nonintegrating Sendai virus. Previously generated iPSCs, derived from 2 healthy donors, were used as controls. The LMNA L204P sequence variation was corrected by genome editing in EDMD iPSC lines to generate isogenic controls. All iPSC-derived cardiomyocytes (iPSC-CMs) were generated using a monolayer-based differentiation protocol. Three-dimensional, strip-format, and force-generating human engineered heart tissues were generated from iPSC-CMs. A knock-in mouse model carrying the Lmna L204P sequence variation was also generated. EDMD-specific iPSC-CMs exhibited a variety of deleterious phenotypes, including disorganized sarcomeres, abnormal nuclear envelope structure, arrhythmias, and contractile dysfunction, when compared with control and gene-corrected iPSC-CMs. Multi-omics analysis further revealed that LMNA directly binds the WNT5A promoter and the Leu204Pro sequence variation reduces chromatin accessibility and WNT5A transcription in EDMD iPSC-CMs. WNT5a (Wnt family member 5a)/RhoA (Ras homolog family member A) signaling inactivation was shown to lead to actin depolymerization and inhibition of actin polymerization in EDMD iPSC-CMs. This results in a deformed nuclear envelope, contractile dysfunction, and impaired trafficking of Cx43 (connexin 43). The impairment of Cx43 trafficking causes reduced distribution of Cx43 at cell-cell borders, contributing to the arrhythmic phenotype in EDMD iPSC-CMs. Pharmacological interventions of exogenous WNT5a supplementation, RhoA activator, or an actin polymerization stabilizer effectively rescued the pathogenic phenotypes of EDMD iPSC-CMs. EDMD engineered heart tissues displayed dysfunctional contractile force generation, which was significantly alleviated by RhoA activator. Lmna L204P heterozygous knock-in mice exhibited impaired cardiac function and developed cardiac arrhythmias in response to sympathetic stress. We present WNT5a-mediated aberrant actin filament dynamics as a novel mechanism underlying cardiac pathogenic phenotypes in LMNA-related EDMD. Our findings indicate that activating WNT5a/RhoA and stabilizing actin assembly may serve as novel therapeutic strategies for this condition.

Comparative Cost Analysis of Surgery Versus Neurotoxin Injection for Long-Term Management of Upper-Extremity Spasticity.

Inside-out Volar Portal of Arthroscopy of Proximal Interphalangeal Joints: A Cadaver Study.

Hand therapy or not following collagenase treatment for Dupuytren's disease? A randomized controlled trial.

Physical rehabilitation interventions for hand function in people with systemic sclerosis.

Percutaneous needle aponeurotomy (PNA) is a well-established minimally invasive technique for treating early-stage Dupuytren's disease; however, recurrence remains a concern. Recent studies have suggested that autologous fat grafting may have regenerative and antifibrotic effects, potentially improving clinical outcomes when combined with minimally invasive techniques. In this current study, 57 patients with Tubiana stage 1-3 Dupuytren's disease were treated with PNA combined with autologous fat grafting between 2022 and 2024. Fat was harvested from the abdomen and processed via the cotton gauze rolling technique. Joint contractures were evaluated preoperatively and at 1 and 12 months postoperatively. Postoperative recovery time, complication rates, and recurrence were also analyzed. Significant improvements were observed in both MCP and PIP joint contractures at 1 and 12 months (p < 0.001). The mean follow-up was 17.4 ± 3.4 months. No clinical recurrences were noted. Only 7% of patients experienced minor, self-limiting complications. Most patients resumed daily activities within one week postoperatively. PNA combined with autologous fat grafting offers a safe, effective, and biologically favorable approach for managing early-stage Dupuytren's disease. The technique promotes rapid recovery, minimizes complications, and may reduce recurrence through adipose tissue's regenerative and antifibrotic effects. This combined strategy represents a promising minimally invasive alternative to traditional open surgery. The addition of fat grafting provided improved tissue pliability, reduced postoperative pain, and enhanced healing. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Pathogenic variants in IDUA, encoding α-L-iduronidase (IDUA), cause the autosomal recessive lysosomal storage disorder mucopolysaccharidosis type I (MPS I). Deficiency of α-L-iduronidase leads to the accumulation of partially degraded glycosaminoglycans in various tissues, including the musculoskeletal system. Clinically, typical skeletal manifestations are dysostosis multiplex, joint contractures, and low BMD. Mucopolysaccharidosis type I represents a spectrum of disease severity. Especially in attenuated disease, establishing an accurate diagnosis and initiating disease-specific therapy, including enzyme replacement therapy (ERT) and osteological treatment, is challenging. A 33-yr-old female patient presented with a history of juvenile idiopathic arthritis, persistent spinopelvic instability, and reduced BMD. Multiple surgical attempts to stabilize the spinopelvic nonunion had failed, thus osteological co-treatment with teriparatide to promote bone healing was recommended. Despite a significant BMD increase, spinopelvic nonunion persisted. Given the combination of short stature, joint contractures, and corneal clouding, a genetic skeletal dysplasia was suspected. Exome sequencing (ES) was inconclusive, whereas short-read genome sequencing (GS) revealed the combination of a 14kb deletion and a promotor variant in IDUA. Thus, the diagnosis of MPS I in the attenuated form was made, and ERT was initiated. This case highlights the importance of considering MPS I in patients with short stature, joint contractures, skeletal dysplasia, and low BMD. Diagnosis can be overlooked in this attenuated form, underscoring the value of genetic testing, with GS offering advantages over ES. These findings emphasize the need for early diagnosis, systematic osteological evaluation, and individualized treatment strategies in patients with skeletal dysplasia.

Arthrofibrosis (AF) is a common pathological condition characterized by joint dysfunction. However, traditional non-invasive external fixation methods are difficult to maintain on the small limbs of rats. This study aimed to develop a novel, non-invasive, and stable rat model of knee arthrofibrosis using a thermoplastic polymer resin. Sixty male Sprague-Dawley rats were randomly assigned into a Sham group and immobilization groups (1, 2, 4, and 6 weeks). Utilizing the material's property of being malleable at high temperatures and rigid at room temperature, a custom-fitted "thigh-crus-trunk" external fixation device was fabricated to immobilize the knee at 135° of flexion. Total, arthrogenic, and myogenic contractures were assessed by measuring the range of motion (ROM). Histopathological changes were evaluated using H&E and Masson's trichrome staining. The expression of fibrotic markers (α-smooth muscle actin,α-SMA and collagen type I alpha 1 chain,COL1A1) in synovial tissues was detected via immunohistochemistry, RT-qPCR, and Western blotting. Biosafety was assessed through histological and serum biochemical analyses of major organs. Prolonged immobilization resulted in a significant decrease in knee ROM, while joint capsule thickness, synovial hyperplasia, and collagen deposition increased, stabilizing after 4 weeks. Analysis revealed that myogenic contracture predominated in the first 2 weeks, whereas arthrogenic contracture became dominant in the later stage. Molecular analysis confirmed a time-dependent upregulation of α-SMA and COL1A1 in synovial tissues. Furthermore, no abnormalities were observed in major organs or serum biochemical indices, indicating favorable biosafety. A novel non-invasive rat model of knee arthrofibrosis was successfully established using thermoplastic polymer resin. This device is cost-effective, user-friendly, stable, and biocompatible. It effectively simulates immobilization-induced joint contracture without surgical trauma, serving as a valuable model for future arthrofibrosis research.