Crohn's disease in hemophilic arthropathy patient: a case report.

Crohn's disease (CD) is an inflammatory bowel disease affecting the digestive tract, the incidence of which is on the rise worldwide. The most common clinical manifestation of hemophilia is arthropathy secondary to recurrent joint effusions and chronic synovitis. This article reports on a rare 25-year-old male patient with both hemophilic arthropathy and Crohn's disease who was at risk for pathogenic gastrointestinal bleeding. After undergoing endoscopic pathologic testing and genetic testing, a multidisciplinary expert work-up of a treatment and nutritional plan was performed. The patient improved clinically and adhered to conservative treatment. This case report is the first report of this rare co-morbidity, demonstrating the highly pathogenic mutation locus and summarizing the clinical experience of early diagnosis and treatment.

AAV mediated repression of Neat1 lncRNA combined with F8 gene augmentation mitigates pathological mediators of joint disease in haemophilia.

Haemophilic arthropathy (HA), a common comorbidity in haemophilic patients leads to joint pain, deformity and reduced quality of life. We have recently demonstrated that a long non-coding RNA, Neat1 as a primary regulator of matrix metalloproteinase (MMP) 3 and MMP13 activity, and its induction in the target joint has a deteriorating effect on articular cartilage. In the present study, we administered an Adeno-associated virus (AAV) 5 vector carrying an short hairpin (sh)RNA to Neat1 via intra-articular injection alone or in conjunction with systemic administration of a capsid-modified AAV8 (K31Q) vector carrying F8 gene (F8-BDD-V3) to study its impact on HA. AAV8K31Q-F8 vector administration at low dose, led to an increase in FVIII activity (16%-28%) in treated mice. We further observed a significant knockdown of Neat1 (~40 fold vs. untreated injured joint, p = 0.005) in joint tissue of treated mice and a downregulation of chondrodegenerative enzymes, MMP3, MMP13 and the inflammatory mediator- cPLA2, in mice receiving combination therapy. These data demonstrate that AAV mediated Neat1 knockdown in combination with F8 gene augmentation can potentially impact mediators of haemophilic joint disease.

[A quantitative study of mechanics in the treatment of atlantoaxial joint disorder by tendon relaxation manipulation].

OBJECTIVE: To explore dose-effect relationship of biomechanical parameters in treating atlantoaxial joint disorder by slimming manipulation. METHODS: From October 2022 to May 2023, 18 patients with atlantoaxial joint disorders were treated, including 10 males and 8 females;aged from 24 to 27 years old with an average of (25.50±1.10) years old;CT of cervical vertebra showed 16 patients with right side distortion and 2 patients with left side distortion. The mechanical parameters of treatment of atlantoaxial joint disorder by tendon relaxation manipulation were measured by wearing massage manipulation gloves. The magnitude, frequency and mechanical curve of force during tendon relaxation and starting force, pulling force, pulling time and mechanical curve during rehabilitation were quantified, the differences between the affected and contralateral manipulations were compared. RESULTS: The maximum force and frequency of Fengchi(GB20) on the affected side were (19.82±2.02) N and (116.83±14.49) times/min, and opposite side were (13.87±2.19) N and (188.89±16.03) times/min, respectively. There were statistically difference in the maximum force and frequency of both sides (P<0.05). The maximum force and frequency of Quepen (ST12) on the affected side were (14.44±3.27) N and (139.06±28.47) times/min, and those on the opposite side were (9.41±1.38) N and (142.50±28.47) times/min. There was difference in maximum force on both sides (P<0.05). The starting force, turning force and turning time of the affected side were (14.16±5.98) N, (11.56±6.63) N, (0.14±0.03) S, and the contralateral side were (8.94±3.39) N, (8.30±4.64) N, (0.18±0.04) S, respectively. The difference of starting force, turning force and turning time on both sides were statistically significant (P<0.05). CONCLUSION: By applying a light relaxation force on the affected side, the mechanical balance between cervical vertebrae could be restored, and recovery trend of atlantoaxial joint disorder could be strengthened. On this basis, the atlantoaxial odontoid process could be reversed by applying a light rotation force, which reflects the characteristics of high safety of the manipulation.

[Bilateral total hip arthroplasty in a 15-year-old patient with progressive pseudorheumatoid dysplasia. Case report and literature review]. / Artroplastía total de cadera bilateral en paciente de 15 años con displasia progresiva pseudorreumatoide. Reporte de caso y revisión bibliográfica.

Progressive pseudorheumatoid dysplasia (PPD) is an autosomal recessive hereditary disease of very low prevalence. It is characterized by the affection of multiple joints, generating arthrosis and progressive deformities from a very young age, which significantly affect the quality of life of patients. Its diagnosis is only confirmed by genetic testing, and no specific pharmacological treatment is still available. In the case of hip involvement, one treatment option is arthroplasty. In this case report, we present a 15-year-old boy with bilateral coxarthrosis secondary to PPD who underwent bilateral total hip arthroplasty in two stages. We highlight the characteristics of this rare entity, the intraoperative findings, the functional outcomes, and the impact on quality of life.

La displasia progresiva pseudorreumatoide (DPP) es una enfermedad hereditaria autosómica recesiva, de muy baja prevalencia. Se caracteriza por la afección de múltiples articulaciones, generando artrosis y deformidades progresivas desde muy temprana edad, que afectan considerablemente la calidad de vida de los pacientes. Su diagnóstico sólo se confirma por análisis genéticos y aún no se dispone de tratamiento farmacológico específico. Ante la afectación de la cadera, una opción de tratamiento está representada por la artroplastía. En este reporte de caso, presentamos un joven de 15 años, con coxartrosis bilateral secundaria a DPP, al cual se le realizó una artroplastía total de cadera bilateral, en dos tiempos. Destacamos las características propias de esta extraña entidad, los hallazgos intraoperatorios, sus resultados funcionales y el impacto en la calidad de vida.

Arthrofibrosis of the knee in pediatric orthopedic surgery.

Arthrofibrosis is a challenging complication associated with knee injuries in both children and adults. While much is known about managing arthrofibrosis in adults, it is necessary to understand its unique aspects and management strategies in the pediatric population. This paper provides an overview of arthrofibrosis in pediatric orthopedic surgery, focusing on its causes, implications, classifications, and management. This paper is a comprehensive review of the literature and existing research on arthrofibrosis in pediatric patients. Arthrofibrosis is characterized by excessive collagen production and adhesions, leading to restricted joint motion and pain. It is associated with an immune response and fibrosis within and around the joint. Arthrofibrosis can result from various knee injuries in pediatric patients, including tibial spine fractures, ACL and PCL injuries, and extra-articular procedures. Technical factors at the time of surgery play a role in the development of motion loss and should be addressed to minimize complications. Preventing arthrofibrosis through early physical therapy is recommended. Non-operative management, including dynamic splinting and serial casting, has shown some benefits. New pharmacologic approaches to lysis of adhesions have shown promise. Surgical interventions, consisting of arthroscopic lysis of adhesions (LOA) and manipulation under anesthesia (MUA), can significantly improve motion and functional outcomes. Arthrofibrosis poses unique challenges in pediatric patients, demanding a nuanced approach that includes prevention, early intervention with non-operative means, and improvements in surgical techniques. Modern pharmacological interventions offer promise for the future. Customized interventions and research focused on pediatric patients are critical for optimal outcomes.

La artrofibrosis es una complicación difícil asociada con lesiones de rodilla tanto en niños como en adultos. Si bien se sabe mucho sobre el manejo de la artrofibrosis en adultos, es necesario comprender sus aspectos únicos y estrategias de manejo en la población pediátrica. Este documento proporciona una visión general de la artrofibrosis en la cirugía ortopédica pediátrica, centrándose en sus causas, implicaciones, clasificaciones y manejo. Este documento es una revisión completa de la literatura y la investigación existente sobre artrofibrosis en pacientes pediátricos. La artrofibrosis se caracteriza por una producción excesiva de colágeno y adherencias, lo que conduce a un movimiento articular restringido y dolor. Se asocia con una inmunorrespuesta y fibrosis dentro y alrededor de la articulación. La artrofibrosis puede ser el resultado de varias lesiones de rodilla en pacientes pediátricos, incluyendo fracturas de columna tibial, lesiones de LCA y LCP, y procedimientos extraarticulares. Los factores técnicos en el momento de la cirugía desempeñan un papel en el desarrollo de la pérdida de movimiento y deben abordarse para minimizar las complicaciones. Se recomienda prevenir la artrofibrosis a través de la fisioterapia temprana. La gestión no operativa, incluyendo el empalme dinámico y la fundición en serie, ha mostrado algunos beneficios. Los nuevos enfoques farmacológicos a la lisis de adherencias han demostrado ser prometedores. Las intervenciones quirúrgicas, consistentes en lisis artroscópica de adherencias (LOA) y manipulación bajo anestesia (MUA), pueden mejorar significativamente el movimiento y los resultados funcionales. La artrofibrosis plantea desafíos únicos en los pacientes pediátricos, exigiendo un enfoque matizado que incluye prevención, intervención temprana con medios no operatorios y mejoras en las técnicas quirúrgicas. Las intervenciones farmacológicas modernas ofrecen una promesa para el futuro. Las intervenciones e investigaciones personalizadas centradas en pacientes pediátricos son fundamentales para obtener resultados óptimos.

30-sit-to-stand power is a better tool than isometric knee extensor strength to detect motor impairment in people with haemophilic arthropathy.

INTRODUCTION: Regular assessment of motor impairments is crucial in people with haemophilic arthropathy (PwHA). This study aimed to determine if there are differences in 30-seconds sit-to-stand (30-STS) power and maximal voluntary isometric contraction (MVIC) of the knee extensors between PwHA and healthy control group (CG). The secondary aims were to investigate the correlation between 30-STS power and MVIC of knee extensors with clinical characteristics and to assess their effectiveness in identifying motor impairment in PwHA. METHODS: A cross-sectional study was conducted by collecting data from PwHA (n = 17) and a sedentary CG (n = 15). MVIC (torque) and 30-STS power were normalised to body mass. Correlation analysis and simple linear regression adjusted for age were used to assess the association between tests and clinical variables. Using z-scores derived from the mean and standard deviation of the CG, we compared the MVIC and the 30-STS power in PwHA. RESULTS: PwHA showed lower MVIC and 30-STS power compared to CG (p < .001; large effect size d > .8). Lower 30-STS power was associated with greater joint impairment and greater fear of movement, whereas MVIC showed no association with clinical variables. 30-STS power showed a lower z-score compared to MVIC (p < .001). In addition, 30-STS power detected 47% of PwHA with motor impairment compared to 0% for MVIC (p = .002). CONCLUSIONS: Our results suggest that 30-STS power may be more effective than knee extensors MVIC in detecting motor impairment in PwHA. Consequently, lower limb skeletal muscle power, rather than maximum knee extensor strength, appears to be more affected in PwHA.

Assessing joint health in haemophilia patients: The combined value of physical examination and ultrasound imaging.

INTRODUCTION: Early diagnosis of joint damage is pivotal in haemophilia to prevent the occurrence and progression of haemophilic arthropathy thus providing optimal personalised management. The haemophilia joint health score version 2.1 (HJHS) is based on a physical examination of the mainly affected joints. Musculoskeletal ultrasound has demonstrated the capability to detect early changes in terms of synovitis and osteochondral damage. The haemophilia early detection with ultrasound (HEAD-US) score has been proposed as a simple and reliable evaluation tool. AIM: This study aims to investigate the correlation between the HJHS and the HEAD-US scores performed by two independent operators (physical therapist and musculoskeletal ultrasound expert) for the evaluation of the joint health status of patients with haemophilia. METHODS: Consecutive adult patients independent of the severity degree were included. Elbows, knees and ankles were evaluated by a physical therapist by HJHS and by a musculoskeletal ultrasound expert following the HEAD-US protocol. RESULTS: We observed a good positive correlation between HJHS and HEAD-US (Spearman's rho 0.72). The main discrepancy in conceptually similar domains was found between the HJHS swelling and the HEAD-US synovitis (rho 0.17), as ultrasound was able to detect even mild synovitis when HJHS swelling was scored 0 in up to 40% of cases. CONCLUSIONS: The HJHS and HEAD-US correlate well even when performed by two independent operators. Musculoskeletal ultrasound is particularly useful for the early detection of synovitis. The routine assessment of both scores helps clinicians define the stage and extension of joint involvement and set up a personalised treatment.

Risk Factors for the Development of Arthrofibrosis After Anterior Cruciate Ligament Reconstruction in Children and Adolescents.

BACKGROUND: Arthrofibrosis is a fibrotic joint disorder resulting in restricted joint motion and pain. Risk factors associated with the development of postoperative arthrofibrosis include female sex, type of graft, and quicker time to reconstruction. These patients have typically benefitted from manipulation under anesthesia or arthroscopic lysis of adhesions. The purpose of this study was to retrospectively review the rate of arthrofibrosis in children and adolescents who previously underwent anterior cruciate ligament (ACL) reconstruction. MATERIALS AND METHODS: This was a retrospective chart review examining patients 18 years or younger who underwent ACL reconstruction between 2013 and 2023. Data collected included age, body mass index, reconstruction technique, concomitant meniscal or ligamentous pathology, and need for revision surgery for arthroscopic lysis of adhesions vs manipulation under anesthesia. RESULTS: A total of 461 patients 18 years or younger who underwent ACL reconstruction were included in this study. Eighteen (3.90%) patients required reoperation for the development of arthrofibrosis. Skeletally immature patients were found to have a statistically significant lower rate of arthrofibrosis compared with skeletally mature patients (0% vs 4.80%; P=.0184). Patients with a higher weight and body mass index had an increased rate of arthrofibrosis (P=.0485 and P=.0410, respectively). Graft type did not have a significant impact on arthrofibrosis rates. There were no significant findings in terms of concomitant injuries and rate of arthrofibrosis. CONCLUSION: Arthrofibrosis developed in 3.90% of patients after ACL reconstruction. Skeletal immaturity may be protective against the development of arthrofibrosis. No association was found between graft type or concomitant knee pathology and arthrofibrosis. [Orthopedics. 2024;47(4):e161-e166.].

Conventional Radiography Assessment of the Pediatric Knee: Pearls and Pitfalls.

Knee pain is one of the most common indications for radiography in the evaluation of musculoskeletal disorders in children and adolescents. According to international guidelines, knee radiographs should be obtained when there is the suspicion of an effusion, limited motion, pain to palpation, inability to bear weight, mechanical symptoms (such as "locking"), and persistent knee pain after therapy. When indicated, radiographs can provide crucial information for the clinical decision-making process. Because of the developmental changes occurring in the knee during growth, the assessment of knee radiographs can be challenging in children and adolescents. Radiologists unfamiliar with the appearance of the knee on radiographs during skeletal maturation risk overcalling or overlooking bone lesions. Image acquisition techniques and parameters should be adapted to children. This article describes the most common challenges in distinguishing pathology from the normal appearance of knee radiographs in the pediatric population, offering some pearls and pitfalls that can be useful in clinical practice.

Outcomes of Ulnar Shortening Osteotomy with an Intramedullary Bone Graft for Idiopathic Ulnar Impaction Syndrome.

Background: Although several techniques for the treatment of ulnar impaction syndrome (UIS) have been introduced, there have still been reports on various complications such as delayed union, nonunion, refracture, wrist pain, plate irritation, and chronic regional pain syndrome. This study aimed to compare the differences in radiological and clinical outcomes of patients in which intramedullary bone grafting was performed in addition to plate stabilization with those without additional bone grafting during ulnar shortening osteotomies (USOs). Methods: Between November 2014 and June 2021, 53 wrists of 50 patients with idiopathic UIS were retrospectively reviewed. Patients were divided into 2 groups according to whether intramedullary bone grafting was performed. Among the 53 wrists, USO with an intramedullary bone graft was performed in 21 wrists and USO without an intramedullary bone graft was performed in 32 wrists. Demographic data and factors potentially associated with bone union time were analyzed. Results: There was no significant difference between the 2 groups when comparing postoperative radioulnar distance, postoperative ulnar variance, amount of ulnar shortening, and postoperative Disabilities of the Arm, Shoulder and Hand score. Compared to the without-intramedullary bone graft group, bone union time of the osteotomy site was significantly shortened, from 8.8 ± 3.0 weeks to 6.7 ± 1.3 weeks in the with-intramedullary bone graft group. Moreover, there were no cases of nonunion or plate-induced symptoms. Both in univariable and multivariable analyses, intramedullary bone grafting was associated with shorter bone union time. Conclusions: USO with an intramedullary bone graft for idiopathic UIS has favorable radiological and clinical outcomes. The advantage of this technique is the significant shortening of bone union time.

[Tibiotalocalcaneal arthrodesis for end-stage ankle and hindfoot arthropathy: Short- and mid-term clinical outcomes].

OBJECTIVE: To analyze the clinical data of patients with end-stage ankle and hindfoot arthropathy who underwent tibiotalocalcaneal (TTC) arthrodesis by the same surgeon, explore the short- and mid-term clinical results, complications and functional improvement, and discuss the clinical prognosis and precautions of TTC arthrodesis. METHODS: Retrospective analysis was made on the clinical data of 40 patients who underwent TTC arthrodesis by the same surgeon from March 2011 to December 2020. In this study, 23 males and 17 females were included, with an average age of (49.1±16.0) years. All the patients underwent unilateral surgery. The clinical characteristics, imaging manifestations, main diagnosis and specific surgical techniques of the patients were recorded. The clinical outcomes were evaluated by comparison of the American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot score and visual analogue scale (VAS) between pre-operation and at the last follow-up. The fusion healing time, symptom improvement (significant improvement, certain improvement, no improvement or deterioration) and postoperative complications were also recorded. RESULTS: The median follow-up time was 38.0 (26.3, 58.8) months. The preoperative VAS score was 6.0 (4.0, 7.0), and the AOFAS score was 33.0 (25.3, 47.3). At the last follow-up, the median VAS score was 0 (0, 3.0), and the AOFAS score was 80.0 (59.0, 84.0). All the significantly improved compared with their preoperative corresponding values (P < 0.05). There was no wound necrosis or infection in the patients. One patient suffered from subtalar joint nonunion, which was syphilitic Charcot arthropathy. The median bony healing time of other patients was 15.0 (12.0, 20.0) weeks. Among the included patients, there were 25 cases with significant improvement in symptom compared with that preoperative, 8 cases with certain improvement, 4 cases with no improvement, and 3 cases with worse symptoms than that before operation. CONCLUSION: TTC arthrodesis is a reliable method for the treatment of the end-stage ankle and hindfoot arthropathy. The function of most patients was improved postoperatively, with little impact on daily life. The causes of poor prognosis included toe stiffness, stress concentration in adjacent knee joints, nonunion and pain of unknown causes.

[Research progress of ultrasound in diagnosis and treatment of shoulder joint diseases].

Objective: To review the research progress of ultrasound in the diagnosis and treatment of shoulder diseases, in order to provide a theoretical basis for the further development of ultrasound in shoulder surgery. Methods: The recent literature on the application of ultrasound in the shoulder joint was extensively reviewed. The application of ultrasound in the diagnosis and treatment of shoulder joint diseases, and the advantages and disadvantages of ultrasound were analysed, and the development trend of ultrasound technology in the shoulder joint area was prospected. Results: At present, the diagnosis of shoulder joint diseases mainly relies on MRI, however, with the development of ultrasound technology, ultrasound with the characteristics of convenient, reliable, and real-time dynamic evaluation is more and more recognized in the diagnosis process of shoulder joint diseases, combined with three-dimensional ultrasound, ultrasound intervention, and elastography can improve the accuracy, sensitivity, and specificity of the diagnosis, and is suitable for the diagnosis and treatment of various shoulder joint diseases, which is expected to carry out early prevention of shoulder joint diseases in the future and achieve more refined and minimally invasive treatment. Conclusion: Ultrasound technology has wide application prospect in shoulder joint diseases, but it is still in the developing stage, and the subjective dependence needs to be solved further.

Force-sensing treadmill gait analysis system can detect gait abnormalities in haemophilia patients without arthropathy.

BACKGROUND: Joint damage in patients with haemophilia (PwH) is commonly assessed by imaging, but few reports have described how structural changes in joints, for example, haemophilic arthropathy (HA)-affect gait ability. OBJECTIVES: We evaluated gait function among PwH with HA, PwH without HA, and people without haemophilia (non-PwH) using a Zebris FDM-T treadmill (FDM-T), an easy-to-use gait assessment instrument with a force sensor matrix. METHODS: The following gait parameters were collected: centre of pressure trajectory intersection (COPi) anterior/posterior variability, COPi lateral variability, COPi anterior/posterior symmetry, COPi lateral symmetry, single-limb support line (SLSL) length, and SLSL variability. Participants walked at their typical gait speed. The physical function of the PwH was assessed by the Hemophilia Joint Health Score (HJHS). Parameters were compared among the three groups. RESULTS: Twelve PwH with HA, 28 PwH without HA, and 12 non-PwH were enrolled. Gait speed significantly differed between groups (non-PwH, 3.1 ± 0.7; PwH without HA, 2.0 ± 0.7; PwH with HA; 1.5 ± 0.4). The COPi anterior/posterior variability, COPi lateral variability, SLSL length, and SLSL variability were greater in the PwH groups than in the non-PwH group. The COPi lateral symmetry differed between PwH with HA and the other groups. The HJHS was not correlated with gait parameters among PwH with HA. CONCLUSIONS: Gait parameters and speed were abnormal in both PwH with HA and PwH without HA. The FDM-T can be used to identify early stages of physical dysfunction that cannot be detected by conventional functional assessments such as the HJHS.