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Biallelic pathogenic variants in CCN6 cause progressive pseudorheumatoid dysplasia (PPD), a rare skeletal dysplasia. The predominant features include noninflammatory progressive joint stiffness and enlargement, which are not unique to this condition. Nearly 100% of the reported variants are single nucleotide variants or small indels, and missing of a second variant has been reported. Genome sequencing (GS) covers various types of variants and deep phenotyping (DP) provides detailed and precise information facilitating genetic data interpretation. The combination of GS and DP improves diagnostic yield, especially in rare and undiagnosed diseases. We identified a novel compound heterozygote involving a disease-causing copy number variant (g.112057664_112064205del) in trans with a single nucleotide variant (c.624dup(p.Cys209MetfsTer21)) in CCN6 in a pair of monozygotic twins, through the methods of GS and DP. The twins had received three nondiagnostic results before. The g.112057664_112064205del variant was missed by all the tests, and the recorded phenotypes were inaccurate or even misleading. The twins were diagnosed with PPD, ending a 13-year diagnostic odyssey. There may be other patients with PPD experiencing underdiagnosis and misdiagnosis due to inadequate genetic testing or phenotyping methods. This case highlights the critical role of GS and DP in facilitating an accurate and timely diagnosis., (© 2024 Wiley Periodicals LLC.)

This study aims to report a case of progressive pseudorheumatoid dysplasia (PPRD) with two kinds of cellular communication network factor 6 (CCN6) gene mutation. In this paper, the clinical profile and the process of diagnosis were analyzed, and the related literature was reviewed. A 15-year-old boy, who developed progressive ankle and hip joint pain and enlargement with spine involvement, was diagnosed with PPRD. The erythrocyte sedimentation rate and C-reactive protein (CRP) were in the normal range; rheumatoid factor and anti-cyclic citrullinated peptide antibody (ACPA) were all negative. Human leukocyte antigen 27 (HLA-B27) was also negative. Cene study discovered two kinds of mutations in CCN6 gene: c. 802T>C and c.624dup. Radiographic studies revealed spine platyspondyly and shaped beaked, osteoporosis, and bilateral symmetric bony enlargements of the interphalangeal joints. Hip shows bilateral acetabulum and femoral head bone marrow edema, which revealed hip arthritis. Gene detection, laboratory examination, and typical radiographic features are helpful for the diagnosis of PPRD. This is the first report of c. 802T>C and c.624dup mutations in patients with PPRD in our country., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Li, Huang, Yan, Guo, Wei, Wang and Xie.)

The use of ultrasound by emergency physicians is now well established. It can be integrated as an extension of the clinical examination, providing diagnostic support during consultation in the emergency department. However, its use in osteoarticular pathologies remains less frequent, despite a growing body of literature demonstrating its value in a variety of pathologies. Ultrasound is operator-dependent, so its proper use requires dedicated training. In Switzerland, training opportunities in osteoarticular ultrasound are still poorly known and not widely used by emergency physicians. This article describes the possibilities of use in the case of osteoarticular pathologies frequently encountered in emergency departments., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.

Introduction: Hemophilia is an inherited bleeding disorder. Bleeding, and in particular joint hemorrhage results in chronic arthropathy and disability. Acute and chronic pain are frequent and limit activity and participation and result in decreased health-related quality of life. Remarkable progress has been made in the diagnosis and treatment of hemophilia but bleeding continues to prove recalcitrant to currently available treatments and joint disease remains problematic. Physiotherapy and pain management are mainstays of current multidisciplinary integrated care of people with hemophilia (PWH). The focus of this review is on preservation of joint health in the era of new and innovative therapies., Areas Covered: A search of the PubMed Central was conducted on 1 February 2024 using the MeSH Major Topic terms identified as keywords for the manuscript. This review will highlight what is known and unknown about joint bleeding and arthropathy, including insights on pain as a related complication., Expert Opinion: Recent advances in therapeutic interventions aimed at promoting healthy joints in PWH will be discussed, including both the pharmacological treatment landscape and related strategies to promote joint health.

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., (© 2024 John Wiley & Sons Ltd.)

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., (© 2024. The Author(s).)

Sacroiliac dysfunction (SID) is a condition seen in horses associated with poor performance that affects hind limb gait and impulsion. The condition comprises pain and dysfunction but there lacks clarity around the aetiopathogenesis and whether SID encompasses abnormal joint pathology, abnormal joint movement, abnormal regional biomechanical function, joint laxity and pain, or various combinations of these that may vary over time. Clinical assessment remains challenging for equine clinicians due to the deep location of the sacroiliac joint (SIJ) and surrounding structures which limits access for palpation, diagnostic imaging and joint-specific injection. There is no recognised single reference standard diagnostic test for SID. Clinical diagnosis has been based on ruling out other causes of hind limb lameness, along with combinations of ultrasonography, scintigraphy and periarticular anaesthesia of the SIJ. Recent studies have highlighted the lack of specificity of injections targeting the SIJ, with significant dispersal of injectate into surrounding structures including around the lumbosacral joint (LSJ). Advanced imaging modalities such as computed tomography offers promise for assessment of the structure and pathology of the SIJ and surrounding bony structures. However, there is a need to improve the understanding of the significance of anatomic variation of the sacroiliac region structures, with recent studies reporting detailed anatomic variation in groups of horses with and without SID. There are also limitations around functional assessment of the joint which is still largely reliant on a thorough clinical examination. This review aims to present an update on clinical approaches to the diagnosis of horses with SID, and to consider the challenges and limitations., Competing Interests: Conflict of interest statement None of the authors of this paper has a financial or personal relationship with other people or organisations that could inappropriately influence or bias the content of the paper., (Copyright © 2024. Published by Elsevier Ltd.)

Background: The association between Patient-Rated Elbow Evaluation: Japanese version (PREE-J) and Japanese Orthopaedic Association-Japan Elbow Society Elbow Function score (JOA-JES score) is unclear. This study evaluated the association between PREE-J and JOA-JES scores., Methods: The patients with elbow disorders were divided into two groups: Group A (conservative treatment, n = 97) and Group B (surgical treatment, n = 156). The patients were also divided into four disease subgroups according to the JOA-JES classification (rheumatoid arthritis, trauma, sports, and epicondylitis groups), and the association between PREE-J and JOA-JES scores in each disease category was examined. In group B, associations between PREE-J and JOA-JES scores were examined pre-and postoperatively., Results: In group A, there were significant associations between PREE-J and JOA-JES scores. In group B, a strong association between preoperative PREE-J and JOA-JES scores was observed in all disease categories. There was also a significant association between postoperative PREE-J and JOA-JES scores. Additionally, group B showed significant postoperative improvements in PREE-J and JOA-JES scores., Conclusions: The PREE-J score correlates well with the JOA-JES score and reflects treatment response before and after treatment., Competing Interests: Declaration of competing interest None., (Copyright © 2023 The Japanese Orthopaedic Association. Published by Elsevier B.V. All rights reserved.)

Joint diseases affect hundreds of millions of people worldwide, and their prevalence is constantly increasing. To date, despite recent advances in the development of therapeutic options for most rheumatic conditions, a significant proportion of patients still lack efficient disease management, considerably impacting their quality of life. Through the spectrum of rheumatoid arthritis (RA), psoriatic arthritis (PsA), and osteoarthritis (OA) as quintessential and common rheumatic diseases, this review first provides an overview of their epidemiological and clinical features before exploring how the better definition of clinical phenotypes has helped their clinical management. It then discusses the recent progress in understanding the diversity of endotypes underlying disease phenotypes. Finally, this review highlights the current challenges of implementing molecular endotypes towards the personalized management of RA, PsA and OA patients in the future., (Copyright © 2024 The Author(s). Published by Elsevier Masson SAS.. All rights reserved.)

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., (© 2024 The Authors. Haemophilia published by John Wiley & Sons Ltd.)

Purpose: The present study aims to report the arthroscopic, radiological and clinical appearance of a rare anatomical variation of a hypertrophied medial parapatellar plica with its response to arthroscopic treatment., Case Presentation: A 14-year-old female handball athlete presented with a history of left knee injury during her participation in a handball training session and subsequent locked knee at 20º flexion. Tenderness was located at the medial joint line. Plain radiographs of the injured knee were normal. The magnetic resonance imaging revealed a hypertrophic medial parapatellar plica and a horizontal tear of the medial meniscus. A standard knee arthroscopy was performed. An extremely hypertrophied medial plica was identified, covering a great part of the medial femoral condyle extending up to the femoral trochlea. Distally, it was attached into the inter-meniscal ligament. The plica was excised and the medial meniscus tear was repaired. At 1-month post-operatively, the patient was completely asymptomatic and at 3-months she returned to her weekly training routine., Conclusions: This study presented a rare anatomical variation of a hypertrophied medial parapatellar plica with atypical course in the medial patellofemoral compartment and insertion into the inter-meniscal ligament. In combination with a medial meniscus tear led to a locked knee. Arthroscopic medial meniscus repair and plica excision resulted in complete resolution of symptoms., (© 2024. The Author(s).)

Stiffness is a clinical disorder that affects the patient's function of the entire upper limb. Many classifications systems have been developed for elbow stiffness based on the plane of motion, severity, aetiology, prognosis or anatomical location. A new classification, the Stiffness types and Influencing Factors Classification System, is proposed as a treatment algorithm to guide the surgical treatment and the preferred operative approach (open or arthroscopic)., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

The synovium may be affected by a wide spectrum of disorders, including inflammatory, infectious, degenerative, traumatic, hemorrhagic, and tumorous conditions. Magnetic resonance imaging (MRI) is a valuable imaging modality to characterize synovial disorders. Most abnormal lesions appear as areas of nonspecific high signal intensity on T2-weighted images (T2-WI) due to high water content or increased perfusion. However, T2 hypointensity can be attributed to blood components of varying ages, calcification, inorganic crystals, fibrosis, caseous necrosis and/or amyloid deposition. Hypointense lesions on T2-WI are infrequent and additional clinical and imaging characteristics can help to limit the list of differential diagnoses, which may include tenosynovial giant cell tumor, synovial chondromatosis, rheumatoid arthritis, tuberculous arthritis, chronic tophaceous gout, amyloid arthropathy, synovial hemangioma, lipoma arborescens and hemosiderotic synovitis. Recently, susceptibility weighted imaging has been developed and may contribute to more accurate diagnosis for deoxygenated blood and calcium. We review the MRI features of hypointense synovial lesions on MRI and emphasize the characteristic findings that suggest a correct diagnosis., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Introduction: Elderly people with haemophilia (PwH) develop haemophilic arthropathy, pain, and reduced health-related quality of life (HR-QoL). The condition of elderly mild haemophilia patients have rarely been evaluated. This study aimed to compare joint status, pain, and HR-QoL between elderly with mild, moderate/severe haemophilia and healthy elderlies., Methods: Knee/ankle abnormalities were assessed by ultrasound (HEAD-US) and physical examination (HJHS 2.1). Pain severity and pain interference were investigated using the Brief Pain Inventory. Pressure pain thresholds (PPTs) were obtained at knees/ankles and forehead. Functional limitations were evaluated using the 2-Minute-Walking-Test, Timed-Up-and-Go and HAL. The EQ-5D-5L questionnaire evaluated HR-QoL. Healthy controls (HCs) and elderly individuals with moderate/severe and mild haemophilia were compared using Kruskal-Wallis and Mann-Whitney U tests., Results: From the 46 elderly PwH approached, 40 individuals (≥60 years) with haemophilia A/B (17 moderate/severe; 23 mild) and 20 age-matched HCs were recruited. Moderate/severe PwH displayed worse joint status, lower PPTs, and poorer HR-QoL than mild PwH and HCs (p-value = .010-<.001). HEAD-US abnormalities were observed in 100% of knees and 94% of ankles in moderate/severe PwH, versus 50% of knees and 61% of ankles in mild PwH. Pain was reported by 80% and 57% of moderate/severe and mild PwH, respectively. Low PPTs, functional limitations, and poor HR-QoL scores were likewise observed in some mild PwH, yet without significantly differing from HCs., Conclusion: This study highlights poor joint/functional status, pain, and HR-QoL outcomes in elderly with moderate/severe haemophilia. A few mild haemophilia subjects presented joint abnormalities, pain, functional limitations, and poor HR-QoL, without significantly differing from HCs., Highlights: Elderly individuals with mild haemophilia have not yet been extensively studied, whereas moderate/severe haemophilia individuals have proven to suffer from haemophilic arthropathy, pain, and poor health-related quality of life (HR-QoL). Using a case-control design, joint status, pain, and HR-QoL outcomes were examined in elderly haemophilia individuals and compared with those of healthy controls (HCs). Elderly moderate/severe haemophilia individuals exhibited worse joint status, increased joint pain sensitivity, and reduced HR-QoL compared with both mild haemophilia subjects and HCs. A subset of mild haemophilia subjects exhibited poor joint status, pain, and HR-QoL outcomes, without any differences noted when compared with HCs., (© 2023 John Wiley & Sons Ltd.)

Arthroscopic treatment of ankle impingement syndrome (AIS) is a minimally invasive surgical procedure used to address symptoms caused by impingement in the ankle joint. This syndrome occurs when there is abnormal contact between certain bones or soft tissues in the ankle, leading to pain, swelling, or limited range of motion. Traditionally, open surgery was the standard approach for treating AIS. However, with advancements in technology and surgical techniques, arthroscopic treatment has become a preferred method for many patients and surgeons. With improved visualization and precise treatment of the arthroscopy, patients can experience reduced pain and improved functionality, allowing them to return to their daily activities sooner. In this paper, we reviewed the application and clinical efficacy the of arthroscopic approach for treating AIS, hoping to provide a reference for its future promotion., (Copyright © 2023 Chinese Medical Association. Production and hosting by Elsevier B.V. All rights reserved.)

Mobility impairments associated with musculoskeletal diseases, such as osteoarthritis and degenerative joint disease, affect approximately 200,000 dogs annually and pose a notable challenge to canine health and welfare. Osteoarthritis causes the remodelling of synovial joints, alongside inflammation and impaired mechanical function which can be extremely debilitating. Secondary osteoarthritis commonly affects dogs and can be exacerbated by previous joint abnormalities, such as patellar luxation or cranial cruciate ligament rupture. Although musculoskeletal diseases can affect dogs of any age, the early subtle signs of gait abnormalities are perhaps missed by owners, thus, dogs may be in the latter stages of osteoarthritis progression when they are presented to veterinarians. Dogs showing subtle signs of gait abnormalities must be presented to veterinary practices for acute diagnosis to prevent long-term deterioration. Musculoskeletal diseases, such as osteoarthritis and degenerative joint disease, are commonly diagnosed via visible radiographic changes. However, veterinarians can use a combination of subjective and objective clinical scoring systems, such as clinical metrology instruments and gait assessment in conjunction with radiography to aid their diagnosis and longitudinal monitoring of musculoskeletal diseases. These scoring systems may be more sensitive to earlier signs of mobility impairments in dogs, ultimately, promoting increased canine health and welfare by enabling pain reduction, improvement of muscle strength and preservation of joint function. Current canine mobility scoring systems available to veterinarians will be discussed in turn throughout this review for implementation into clinical practice., (© 2023 The Authors. Journal of Small Animal Practice published by John Wiley & Sons Ltd on behalf of British Small Animal Veterinary Association.)

Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute appropriate treatment and prevent irreversible damage. This review describes the joint manifestations of IMD that may be encountered in adults. The clinical settings considered were arthralgia and joint stiffness as well as arthritis. Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in relation with alkaptonuria, and progressive joint stiffness may correspond to a mucopolysaccharidosis or mucolipidosis. Gaucher disease is initially revealed by painful acute attacks mimicking joint pain described as "bone crises". Some IMD may induce microcrystalline arthropathy. Beyond classical gout, there are also gouts in connection with purine metabolism disorders known as "enzymopathic gouts". Pyrophosphate arthropathy can also be part of the clinical spectrum of Gitelman syndrome or hypophosphatasia. Oxalate crystals arthritis can reveal a primary hyperoxaluria. Destructive arthritis may be indicative of Wilson's disease. Non-destructive arthritis may be seen in mevalonate kinase deficiency and familial hypercholesterolemia., (© 2023. Institut National de la Santé et de la Recherche Médicale (INSERM).)

Introduction: Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive genetic disease caused by mutations in the Wnt1-inducible signaling pathway protein 3 gene. PPRD is considered a noninflammatory disease, and involvement of the sacroiliac joint and hip arthritis have not been reported previously., Patient Concerns: We report a case of PPRD in an 11-year-old boy, who presented with bilateral pain and swelling in the knees, elbows, and ankles, and bilateral pain without swelling in the shoulders, wrists, knuckles, and proximal and distal interphalangeal joints for the past 5 years. He had been misdiagnosed with juvenile idiopathic arthritis for more than 6 years., Diagnosis: The correct PPRD diagnosis was made using whole-exome sequencing for Wnt1-inducible signaling pathway protein 3 gene mutations (c.589 + 2T>C and c.721T>G; both mutations have rarely been reported) and magnetic resonance imaging examination; moreover, the latter showed inflammation of the sacroiliac joint and hip joint., Intervention: The patient was administered supplemental calcium, active vitamin D, and glucosamine sulfate., Outcome: The patient experienced alleviation of joint pain following treatment initiation; however, joint motion improvement was not obvious. Above all, the long-term use of biologic or targeted synthetic disease-modifying antirheumatic drugs in the future was avoided., Conclusion: The findings of the inflammatory aspects in PPRD will enrich our understanding of this rheumatological disease., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

This article is devoted to managing posterior ankle impingement syndrome and its management using endoscopic to arthroscopic surgical instrumentation. The authors explore the critical anatomy, pathogenesis, and clinical examination. Operative techniques, including the approach, and instrumentation used, are outlined. The postoperative protocol is discussed. Finally, a literature review is provided, which also defines known complications., Competing Interests: Disclosure M.H. Theodoulou: Treace Medical, Avitus, Wishbone, Arthrex, Hemigard. M. Ravine has nothing to disclose., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Case History: Dogs (n = 15) that were presented to a single veterinary teaching hospital with elbow dysplasia-associated lameness between September 2021 and May 2022, and were determined to require arthroscopy based on imaging results, were prospectively recruited into the study. The median duration of lameness was 4 (min 1, max 24) months., Clinical Findings: Various breeds were represented with a median body weight of 31.6 (min 15, max 46.4) kg and median age at presentation of 14 (min 8, max 83) months. Results of imaging modalities (CT) were consistent with medial coronoid disease with fissured or fragmented medial coronoid process in all dogs., Arthroscopic Findings: Feasibility of the needle arthroscopy (NA) procedure was firstly assessed in a preliminary cadaveric study in forelimbs (n = 10) collected from 10 adult dogs euthanised for reasons unrelated to the study. Elbow exploration was performed through a medial approach beginning with NA (1.9 mm 0° angle scope) followed by standard arthroscopy (SA; 2.4 mm 30° angle scope). The quality and extent of visualisation (scored through the number of anatomical structures visualised) were recorded and statistically compared. As the cadaver study indicated that NA allowed safe inspection of all structures in medial/caudal compartments, this procedure was then used in the dogs requiring treatment. In the clinical setting, elbow exploration was successful in all dogs and the treatment (removal of osteochondral fragments) was performed without requiring conversion into SA. One month after surgery, all dogs had an improvement in their lameness score (0-5) and 12/15 dogs were no longer lame. There was a reduction in Canine Orthopaedic Index scores measured a median of 99 (min 47, max 180) days after surgery (24 (IQR 19.5-31.5)) compared to the pre-operative period (49 (IQR 46.5-57); p < 0.001)., Clinical Relevance: Needle arthroscopy-assisted removal of osteochondral fragments was performed in all dogs with satisfactory short-term clinical outcome. NA is a feasible technique for diagnosis and lesion assessment in dogs with a fissured or fragmented coronoid process. Larger clinical studies with longer follow-up are necessary to validate the NanoScope operative arthroscopy system as an alternative strategy to SA for video-assisted treatment of medial coronoid disease.

Repetitive bleeding attacks may cause joint pain and arthropathy in patients with hemophilia (PWH). Despite being a common symptom, pain is not a well-studied topic in this disease. The aim of this cross-sectional, observational study was to assess the frequency and intensity of pain and analyze the success rates ofpain treatment methods. Adult hemophilia patients were included in the study. The Multidimensional Hemophilia Pain Questionnaire (MHPQ) was used to assess pain. In addition to the MHPQ, demographic data were collected. Fifty adult hemophilia patients were included in the study. Thirty-one (62%) of the patients reported pain due to hemophilia in the last year. Twenty-six of them (81.2%) reported pain during bleeding attacks. The most successful pain coping strategy was clotting factor replacement. None of the participants used opioids or adjuvant analgesics. None of them used a physical therapy modality or interventional pain therapy method. While 67.6% of the patients were very dissatisfied or dissatisfied with their global pain treatment, only 16.1% of the patients were satisfied or very satisfied. Patients with higher pain during bleeding episodes were more likely to continue their prophylaxis. There was no significant difference between plasma-derived or recombinant-derived factor prophylaxis in terms of pain complaints. Pain is a frequent and important symptom of hemophilia, but most of the patients are not treated sufficiently. A multidisciplinary approach is needed to improve the life quality of the patients. In addition to successful bleeding prophylaxis, administration of a proper and adequate analgesic regimen and combined physical therapy modalities may decrease pain intensity and prevent the development of arthropathy., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

We investigated abnormal MRI findings of the triangular fibrocartilage complex in 154 asymptomatic volunteers (21-79 years). Except prevalence, we focused on the morphological features of abnormal signals in relation to age. The majority of full-thickness tears were located in the articular disc (63 participants). The incidence of disc perforation with characteristics of ulnar impaction syndrome increased significantly with age. Asymptomatic full-thickness tears of the ulnar attachment were found in ten participants (seven over 60 years old). The proximal and distal laminae of the ulnar attachment could not be differentiated in 36 participants. In conclusion, MRI is of limited value for the elderly in diagnosing triangular fibrocartilage disorders. For young subjects, MRI is still valuable, especially in diagnosing ulnar detachment, although the ability to distinguish between proximal and distal laminae remains questionable. Disc perforations in volunteers mimicked ulnar impaction syndrome, therefore age, clinical signs and other factors should also be considered in clinical diagnosis. Level of evidence: III.

Introduction: Ultrasound is increasingly used as addition to physical examination for detection of subclinical joint changes in haemophilia. However, the added value of ultrasound to physical examination for detecting synovial proliferation is not fully established., Aim: To determine the diagnostic accuracy of swelling at physical examination for ultrasound-detected synovial proliferation in haemophilia., Methods: PubMed and EMBASE were searched up to 2 August 2022. Studies reporting original data on occurrence of swelling at physical examination and synovial proliferation on ultrasound of index joints in persons with haemophilia were included. Risk of bias and applicability were assessed using the Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) tool. Diagnostic accuracy parameters of swelling at physical examination for ultrasound-detected synovial proliferation were determined. Summary sensitivity and specificity were calculated using a bivariate random-effects model., Results: Fifteen studies reporting on swelling at physical examination and synovial proliferation on ultrasound in 2890 joints of 627 patients were included. Prevalence of subclinical synovial proliferation ranged between 0% and 55%. Sensitivity of swelling was low [summary estimate .34; 95% confidence interval (CI) .24-.46], while specificity was high (summary estimate .97; CI .92-.99). Predictive values varied widely due to inter-study differences in prevalence of synovial proliferation., Conclusion: Joint swelling has low sensitivity for presence of ultrasound-detected synovial proliferation in haemophilia, suggesting underestimation of synovial proliferation by physical examination alone. Consequently, ultrasound screening may generate important information on synovial changes which would otherwise remain undetected., (© 2022 The Authors. Haemophilia published by John Wiley & Sons Ltd.)

Objective: To develop and validate a weighted score, the ONCOREUM score, that aids physicians in differentiation of cancer with arthropathy from juvenile idiopathic arthritis (JIA)., Study Design: Data were extracted from the ONCOREUM Study, a multicenter, cross-sectional investigation aimed at comparing children with cancer and arthropathy to children with JIA. Three statistical approaches were applied to develop the ONCOREUM score and assess the role of each variable in the diagnosis of cancer with arthropathy, including 2 approaches based on multivariable stepwise selection (models 1 and 2) and 1 approach on a Bayesian model averaging method (model 3). The β coefficients estimated in the models were used to assign score points. Considering that not missing a child with cancer is a mandatory clinical objective, discriminating performance was assessed by fixing sensitivity at 100%. Score performance was evaluated in both developmental and validation samples (representing 80% and 20% of the study population, respectively)., Results: Patients with cancer and arthropathy (49 with solid tumors and 46 with hematologic malignancies without peripheral blasts) and 677 patients with JIA were included. The highest area under the receiver operating characteristic (ROC) curve (AUC) in the validation data set was yielded by model 1, which was selected to constitute the ONCOREUM score. The score ranged from -18 to 21.8, and the optimal cutoff obtained through ROC analysis was -6. The sensitivity, specificity, and AUC of the cutoff in the validation sample were 100%, 70%, and 0.85, respectively., Conclusions: The ONCOREUM score is a powerful and easily applicable tool that may facilitate early differentiation of malignancies with articular complaints from JIA., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Arthrofibrosis is a frequent complication after total knee arthroplasty (TKA). Recently, arthrofibrosis could be successfully verified histologically after primary total hip arthroplasty (THA) and the clinical presentation on the hip could be described for the first time. Possible diagnostic and therapeutic approaches have not yet been published. The diagnostic work-up differs only slightly from that for the knee joint. Other causes, such as aseptic loosening, malalignment or periprosthetic joint infection should be excluded. The gold standard is still invasive diagnostics with histological evidence of arthrofibrosis according to the synovia-like interface membrane (SLIM) criteria. Conservative treatment approaches include mobilization under anesthesia and medication according to Traut, analogous to the knee joint. Surgical treatment should be carried out under strict interpretation of the indications and after detailed clarification for the patient. In contrast to the knee joint, open arthrolysis should be preferred to arthroscopic arthrolysis of the hip joint. It must be taken into consideration that the evidence for conservative as well as surgical treatment, including possible revision arthroplasty, cannot be assessed due to the absence of clinical data. Studies under controlled conditions on the possible treatment approaches in the presence of arthrofibrosis are desirable and necessary in order to be able to assess the significance of the symptoms. In addition to treatment, great importance should also be attached to the diagnostics. Histological confirmation of the diagnosis of arthrofibrosis should only be considered to a limited extent in the case of an assumed, only moderately successful surgical intervention., (© 2022. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Joint surgery is one of the most important and successful disciplines in surgery; nevertheless, complications still occur, especially in total knee arthroplasty and surgery of the anterior cruciate ligament. A significant disease in this context is arthrofibrosis. This review article presents the cellular and molecular pathogenetic concept of arthrofibrosis, the spectrum of histopathological diagnostics and differential diagnostics and a classification into joint endoprosthesis-associated and non-joint endoprosthesis-associated arthrofibrosis is proposed. The basis of the histopathological diagnostics is the standardized tissue removal with subsequent fixation in formalin. In the case of joint implant failure and the problem of endoprosthesis-associated arthrofibrosis, the histopathological diagnostics can be carried out according to the consensus classification of synovia-like interface membrane (SLIM). Arthrofibrosis is characterized by fibrosis, a high fibroblast cellularity with immunohistochemical detection of cytoplasmic beta catenin expression. The presence of endoprosthesis-associated arthrofibrosis is probable above a threshold of 20 beta catenin positive fibroblasts per high-power field (HPF). The diagnosis of a non-endoprosthesis-associated arthrofibrosis can be classified according to the joint pathology algorithm. Diffuse non-endoprosthesis-associated arthrofibrosis is characterized by generalized proliferation of connective tissue in the whole joint and localized circumscribed arthrofibrosis is characterized by a nodose cyclops-like fibrosis. The clarification of the cause of arthrofibrosis is based on an interdisciplinary cooperation. In addition to the histopathological diagnostics, this includes clinical, surgical, biomechanical, arthroscopic, microbiological, laboratory parameter and radiological findings., (© 2022. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Arthrofibrosis (AF) is one of the most frequent complications of injuries and surgical interventions on joints, particularly after total knee replacement and anterior cruciate ligament reconstruction. Even though all joints can be affected, most cases involve the knee joint. Patients feel a painful impairment of the range of motion caused by fibrotic tissue formation within and sometimes also outside the joint. The normal healing process is disturbed by mechanical and emotional stressors and severe pain. In 90% of the cases AF occurs even within the first few days after the injury or surgery, so that the quality standards cannot be achieved. Physiotherapy and rehabilitation often do not result in a substantial amelioration of symptoms, so that the activities of daily living (ADL) are severely limited. The clinical diagnostics, differential diagnostics and a novel pathogenesis and stage model of the primary AF with the treatment principles derived from this are presented in this article., (© 2022. The Author(s).)

Bone and joint diseases are prevalent and often fatal conditions in elderly individuals. Additionally, bone-derived cells may release exosomes that package and distribute a range of active substances, such as proteins, miRNAs, and numerous active factors, thereby facilitating material and information interchange between cells. Exososmes generated from bone may be utilized to manage bone production and resorption balance or even as biological or gene therapy carriers, depending on their properties and composition. In this review, we will discuss the composition, secretion, and uptake theory of exososmes, the role of exososmes in bone metabolism regulation, the pathogenesis and diagnosis of bone and joint diseases, and the application of exososmes in regenerative medicine. The findings will expand our understanding of the potential research and application space regarding exososmes., (Copyright © 2022. Published by Elsevier B.V.)

Objectives: Progressive pseudorheumatoid dysplasia (PPRD) is a spondyloepiphyseal dysplasia caused by biallelic variants in CCN6. This study aimed to describe the early signs and follow-up findings in 44 Turkish PPRD patients., Methods: The patients with progressive stiffness of multiple joints, characteristic wide metaphysis of interphalangeal (IP) joints and platyspondyly were clinically diagnosed with PPRD. Fifteen patients who had first symptoms under 3 years of age were grouped as early-onset, while others were grouped as classical. CCN6 sequencing was performed in 43 patients., Results: Thirteen pathogenic/likely pathogenic variants were identified, five were novel. c.156C>A(p.Cys52*) variant was found in 53.3% of the families. The initial symptom in the early-onset group was genu varum deformity, while it was widening of IP joints in the classical group. The median age of onset of symptoms and of diagnosis was 4 and 9.7 years, respectively. The mean follow-up duration was 5.6 years. The median age of onset of IP, elbow, knee and hip stiffness, which became progressive with growth was 5, 9, 9 and 12.2 years, respectively. Waddling gait occurred in 97.7% of the patients. A total of 47.7% lost independent walking ability at the median age of 12 years. In the early-onset group, waddling gait occurred earlier than in classical group (P < 0.001). Two patients had atypical presentation with late-onset and mild or lack of IP involvement., Conclusion: We observed that genu varum deformity before the age of 3 years was an early sign for PPRD and almost half of the patients lost walking ability at the median age of 12 years., (© The Author(s) 2021. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

One important field of manual medicine is the special diagnosis and treatment of the extremities. Biomechanical and neurophysiologic knowledge allows identification and treatment of so-called kinetic chain syndromes. The manual diagnosis of the extremities follows clear criteria and enables the diagnosis of myofascial or joint dysfunction. The manual approach to the extremities has many parallels with spinal treatment, although in certain cases, it follows a distinct algorithm. This article addresses the manual diagnosis and treatment of the joints of the extremities. Three case reports demonstrate how symptoms and manual findings guide manipulative treatment and what impact this can have., (© 2022. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Competing Interests: The authors declare no conflict of interest.

Background: Intra-articular venous malformations (IAVM) are rare benign vascular anomalies that usually affect young patients and most common locate in the knee. The terminology of these lesions is still ill-defined, as they are often termed in the literature as synovial hemangiomas. Early diagnosis can be difficult, because they usually present with nonspecific clinical manifestations that are similar those of other rheumatic diseases, especially juvenile idiopathic arthritis (JIA)., Case Series: We conducted a retrospective analysis of five pediatric patients admitted to our units for recurrent swelling of the knee, and compared their characteristics with those of literature reports. The average age at first symptom and time from onset to diagnosis was 3.9 years (range 18 months-7 years) and 3.5 years (range 1-7 years), respectively. In our patients, an initial misdiagnosis of JIA, bleeding disorder or traumatic arthropathy was made. On MRI imaging, the features of the lesion were similar in all patients, and were marked by isointense-to-hypointense signal in T1-weighted images, and hyperintense signal in T2-weighted images. When performed, arthrocentesis led to aspiration of bloody fluid. The diagnosis was confirmed with a biopsy and histopathologic assessment in all patients. Open surgery enabled complete excision of the mass and was followed by stable remission over time in all cases., Conclusions: Our report highlights the challenges that may be posed by the detection of knee IAVM and the frequent long delay between onset of symptoms and diagnosis. The key elements for early recognition include careful assessment of patient history, demonstration of bloody fluid on arthrocentesis, and proper interpretation of MRI scanning., (© 2021. The Author(s).)

➤: The proper diagnosis and treatment of patients with concurrent hip and spine pathological processes can be challenging because of the substantial overlap in symptomatology., ➤: There is no consensus on which pathological condition should be addressed first., ➤: Factors such as advanced spinal degeneration, deformity, and prior fusion alter the biomechanics of the spinopelvic unit. Attention should be paid to recognizing these issues during the work-up for a total hip arthroplasty as they can result in an increased risk of dislocation., ➤: In patients with concurrent spine and hip degeneration, the surgeon must pay close attention to appropriate implant positioning and have consideration for implants with enhanced stability to minimize the risk of dislocation., ➤: A proper understanding of sagittal balance and restoration of this balance is integral to improving patient outcomes following spinal surgery., ➤: The advent of new imaging modalities, increased awareness of spinopelvic mobility, as well as a better understanding of sagittal alignment will hopefully improve our treatment of patients with hip-spine syndrome., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJS/G657)., (Copyright © 2021 by The Journal of Bone and Joint Surgery, Incorporated.)

Introduction: Synovium has been documented as a primary site of inflammation and a major effector organ in a variety of joint diseases. Study of simple technique like synovial biopsy can help in early diagnosis and treatment of diseases significantly improving outcome of patient in cases of rheumatoid arthritis, osteoarthritis, etc., Only limited data exist on utility of synovial biopsies., Aim and Objectives: To analyze the pattern of synovial lesions to differentiate between different kinds of arthritis. Also, to identify early stages of arthritis so as to prevent unnecessary invasive surgical procedure., Materials and Methods: It's a retrospective study to analyze 103 cases of synovial lesions diagnosed in last five years at a tertiary care orthopedic center. All synovial biopsies obtained mainly by open method and few by arthroscopic method, that came to the Dept of Pathology were included. Lesions were classified into four categories that is, inflammatory joint diseases, degenerative joint diseases, tumor-like conditions and tumors., Results: Age group most affected was between 61 and 70 years, with male predominance. Osteoarthritis (OA) was the most common histopathological diagnosis. Early OA tissues showed greater lining layer thickness, vessel proliferation, and inflammation, while surface fibrin deposition along with fibrosis was noted in later stages., Conclusion: The histo-morphological observations made in this study may have important therapeutic implications for some patients during the early evolution of arthritis and could prevent unnecessary operative intervention of later stages.

The hip joint is the largest weight-bearing joint in the body and is surrounded by dense capsules and thick muscles. Hip arthroscopic techniques are suitable for the treatment of hip-related conditions. These minimally invasive techniques have rapidly developed in China since 2007. Moreover, they have been used in the treatment of gluteal muscle contracture, snapping hip syndrome, femoral acetabular impingement, acetabular labral injury, hip labral calcification, synovial chondroma, osteoid osteoma, synovitis, osteonecrosis of the femoral head, and developmental dysplasia of the hip. This technique has showed its advantage in the total debridement of lesions, precision treatment, and less trauma. However, we lack understanding of the overall development of arthroscopic techniques in China. This review illustrates the recent development of hip arthroscopic techniques in China and related research progress., (© 2021 The Authors. Orthopaedic Surgery published by Chinese Orthopaedic Association and John Wiley & Sons Australia, Ltd.)

Background: The role of postoperative pain in incidence of shoulder stiffness (SS) after shoulder arthroscopy has not been thoroughly investigated. The present study was conducted to assess the effects of early postoperative pain (EPOP) on onset of SS after arthroscopic rotator cuff (RC) repair., Materials and Methods: In a retrospective analysis of a prospectively collected database, 335 patients who underwent arthroscopic RC repair were evaluated. RC tendons were sutured to the bone using the double-row technique. EPOP was evaluated 1 week after surgery using the visual analog scale (VAS). SS was assessed 3 months after surgery and was categorized into moderate or severe based on shoulder range of motion (ROM). Each type of complication including SS was identified and recorded., Results: Postoperative shoulder stiffness (POSS) was identified in 121 patients (36.2%) that was moderate in 86 patients (70.1%) and severe in 35 patients (28.9%). After 1 week, VAS pain score was equal to 7.7 ± 3.1 and 4.5 ± 2.1 in the patients with and without stiffness, respectively (p < 0.001). Diabetes and traumatic tear were found to be associated with postoperative stiffness (p = 0.046 and p < 0.001, respectively). Similar associations were found on multivariate analysis of data. VAS pain score was higher in the patients with severe stiffness compared with those with moderate stiffness (p < 0.001)., Conclusions: Our findings revealed that EPOP is associated with shoulder stiffness after arthroscopic RC repair. Therefore, strategies to ameliorate EPOP could be opted to decrease rate of POSS., Level of Evidence: Level IV.

We report a 6-year-old girl with progressive bilateral conductive hearing loss for 2 years. She passed the newborn hearing screening conducted with otoacoustic emissions testing and had a normal development of speech and language, which indicated that her deafness was delayed-onset. She also had congenital proximal interphalangeal joints. Proximal symphalangism was confirmed by genetic testing ( NOG gene: c.406C > T, p.R136C). Bilateral stapes ankyloses were proved by surgery and her hearing was improved after stapedotomy by over 30 dB. Besides, this case should remind clinicians to carefully distinguish NOG gene-related deafness from congenital ossicular malformation and pediatric otosclerosis.

Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare disease that causes musculoskeletal deformities. There has been no detailed report on the outcome of PPD patients who undergo total hip arthroplasty (THA). The aim of this study was to investigate the clinical and radiological outcome of PPD patients undergoing THA after middle-term follow-up., Methods: This was a medical records review study. Patients with the diagnosis of PPD who underwent THA were enrolled. The PPD diagnosis was confirmed by genetic sequencing. Baseline clinical data were retrieved. The patients were followed for the Harris Hip Score, visual analogue score, range of hip motion, and postoperative complication. Life quality was evaluated with the Short Form 36. Plain x-ray films were used for radiographic evaluation., Results: Four cases were identified from the patient database in our institute. All the patients presented arthropathy of both hips and underwent 1-stage bilateral THA. All the patients had WISP3 mutation after genetic sequencing. The cases were followed at average 47.9 months (range, 18-93 months). Harris Hip Score increased from 39.67 ± 9.73 points preoperatively to 91.67 ± 4.32 points postoperatively (p < 0.05); Short Form 36 increased from 19.67 ± 1.53 points preoperatively to 71.33 ± 3.06 postoperatively (p < 0.05). The hip range of hip motion was significantly improved after operation. X-ray films showed no obvious radiolucent lines or aseptic loosening at the latest follow-up., Conclusions: This study indicated that THA was effective to treat the PPD patients complicated with hip arthropathy with satisfactory clinical and radiological outcome after mid-term follow-up., Competing Interests: Bin Feng is currently receiving a grant from the National Natural Science Foundation in China (grant number 81871740). The authors declare that they have no other conflict of interest., (Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.)

Background and purpose - The increase in shoulder arthroplasty may lead to a burden of revision surgery. This study compared the rate of (2nd) revision following aseptic 1st revision shoulder arthroplasty, considering the type of primary, and the class and type of the revision.Patients and methods - All aseptic 1st revisions of primary total reverse shoulder arthroplasty (rTSA group) and of primary total stemmed and stemless total shoulder arthroplasty (non-rTSA group) procedures reported to our national registry between April 2004 to December 2018 were included. The rate of 2nd revision was determined using Kaplan-Meier estimates and comparisons were made using Cox proportional hazards models.Results - There was an increased risk of 2nd revision in the 1st month only for the rTSA group (n = 700) compared with the non-rTSA group (n = 991); hazard ratio (HR) = 4.8 (95% CI 2.2-9). The cumulative percentage of 2nd revisions (CPR) was 24% in the rTSA group and 20% in the non-rTSA group at 8 years. There was an increased risk of 2nd revision for the type (cup vs. head) HR = 2.2 (CI 1.2-4.2), but not class of revision for the rTSA group. Minor (> 3 months) vs. major class revision, and humeral revision vs. all other revision types were second revision risk factors for the non-rTSA group.Interpretation - The CPR of revision shoulder arthroplasty was > 20% at 8 years and was influenced by the type of primary, the class, and the type of revision. The most common reasons for 2nd revision were instability/dislocation, loosening, and infection.