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.

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.

Review of the clinical diagnosis of sacroiliac dysfunction in horses - Challenges and limitations.

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.

Hypertrophied medial parapatellar plica: a case of a medial plica anatomical variation with insertion to the inter-meniscal ligament in an adolescent athlete treated arthroscopically.

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.

Adipocytes in synovial fluid cytology: An approach for diagnosing synovial lipomatosis.

A 2-year-old neutered male bullmastiff dog was presented with chronic left hind limb lameness. Physical examination revealed left stifle effusion and medial buttress without cranial tibial thrust. Radiographs showed joint effusion and new bone formation at the patella apex. Magnetic resonance imaging showed increased synovial fluid, widening of the joint space, abnormal infrapatellar fat body and thinning of the cranial cruciate ligament. Synoviocentesis and cytologic evaluation of synovial fluid revealed marked mononuclear inflammation with abundant fatty tissue, suggesting synovial lipomatosis in conjunction with the imaging findings. The disease was confirmed histologically after sampling the lesion during arthrotomy. Synovial lipomatosis, characterized by extensive synovial adipose tissue proliferation of the synovial membrane, is a rare "tumor-like" disorder that usually affects the stifle. Although the etiology remains unclear, joint trauma, inflammation, instability, and lipid abnormalities have been proposed as causes. Inflammatory factors may promote synoviocyte and adipocyte hyperplasia that perpetuate the process. Surgical removal may be suggested to eliminate triggers and prevent future recurrences. The report provides the first cytological description of adipocytes in synovial fluid associated with the diagnosis of synovial lipomatosis in dogs. This case report underscores the potential effectiveness of cytologic analysis of synovial fluid smears, in combination with magnetic resonance imaging (MRI), for diagnosing this condition and reducing complications associated with arthrotomy for sampling purposes. Additionally, the case highlights that synovial lipomatosis should be considered as a potential differential diagnosis for synovial masses in dogs. Further cases are needed to validate these observations in veterinary medicine.

Molecular portrait of chronic joint diseases: Defining endotypes toward personalized medicine.

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.

Classification of elbow stiffness.

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).

T2 Black Synovitis in Musculoskeletal MRI: Disease Spectrum and Imaging Characteristics of Joint Diseases

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.

Joint status, pain and quality of life in elderly people with haemophilia: A case-control study.

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.

Arthroscopic treatment of ankle impingement syndrome.

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.

Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.

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.

An update on mobility assessment of dogs with musculoskeletal disease.

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.

Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review.

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.

Posterior Ankle Impingement.

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.

Evaluation of a small-bore needle arthroscope for diagnosis and treatment of medial coronoid disease in dogs: a pilot study with short-term assessment.

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.

Pain: a neglected symptom in hemophilia.

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.

Screening for subclinical synovial proliferation in haemophilia: A systematic review and meta-analysis comparing physical examination and ultrasound.

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.