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Enthesitis is a characteristic manifestation of spondyloarthropathy (SpA). Historically, Behçet's syndrome (BS) was classified within SpA. Although they are now classified separately, the association between BS and SpA remains controversial. The concept of MHC-I (major histocompatibility complex class I)-opathy has been proposed based on the overlap in immunopathological mechanisms among diseases associated with human leukocyte antigen (HLA) class I. Enthesitis is a frequent complication in patients with BS who also have acne and arthritis. However, information regarding enthesitis in patients with BS without arthritis (BS-WA) is limited. Herein, we report a case of vascular BS complicated by enthesitis. In this case, heel pain was the dominant symptom at presentation. Laboratory tests revealed chlamydia antibody positivity, leading to a tentative diagnosis of reactive arthritis. Despite treatment, C-reactive protein (CRP) levels remained elevated. Imaging revealed numerous aneurysmal lesions in the large vessels. Based on these findings and other symptoms, patient was diagnosed with vascular BS. He tested positive for HLA-B15 and HLA-B46, which are associated with peripheral SpA. Subsequent remission induction therapy for BS was effective and the patient was discharged without complications. Our case and a literature review suggest that there exists a subgroup of BS-WA with a complication of enthesitis, possibly belonging to the spectrum of MHC-I-opathies. It is important to consider BS as a differential diagnosis in patients presenting with enthesitis and to conduct a precise medical history review regarding the symptoms of BS. [ABSTRACT FROM AUTHOR]

Background: Enthesopathy is considered a crucial aspect of assessment and outcome in psoriatic arthritis (PsA). Musculoskeletal ultrasound (MSUS) is a critical tool for accurately detecting enthesitis. Recent research focuses on identifying simple biomarkers for detecting and monitoring psoriatic enthesopathy. Red cell distribution width (RDW), mean platelet volume (MPV), and neutrophil/lymphocyte ratio (NLR) are components of a complete blood count (CBC) and are reliable bio-inflammatory markers in various rheumatic diseases. Aim of work: To measure MPV, RDW, and NLR in psoriatic enthesopathy and determine their relationship to disease activity and MSUS findings. Patients and methods: This study focused on 30 people with psoriatic arthritis (PsA) as per CASPAR criteria, along with 20 control subjects. Enthesopathy was evaluated clinically using the Leeds Enthesitis Index (LEI). The modified Disease Activity Index of Psoriatic Arthritis (DAPSA28) was calculated, and RDW, MPV, NLR, CRP, and ESR were measured. Each enthesis in LEI was radiologically assessed using plain radiography and MSUS according to OMERACT definitions. Results: There was a significant relationship between clinical tenderness, the presence of enthesophytes on plain radiography, and MSUS findings at entheses sites (p < 0.001 for each). Psoriatic patients had higher levels of RDW and MPV (p < 0.001 and 0.01, respectively) than controls, with no significant differences in NLR (p = 0.189) between the two groups. RDW and MPV levels were positively correlated with the DAPSA28 score. Conclusion: Monitoring PsA disease activity can be improved by considering RDW and MPV as reliable indicators and using them to screen for psoriatic enthesopathy with MSUS indices. Key points • Clinically identifying enthesitis in patients with PsA can be challenging. Imaging MSUS indices hold promise for objective analysis, but there is no consensus on which indices to use in clinical trials and daily practice. • Patients with psoriatic enthesopathy have higher RDW and MPV levels, which are positively correlated with DAPSA28 score. • RDW and MPV can be considered in the turn of improved screening of psoriatic enthesopathy with MSUS scores. [ABSTRACT FROM AUTHOR]

Objectives DISH is a common musculoskeletal disorder; however, the imaging features and disease continuum from early to advanced stages is poorly understood. The purpose of this study was to evaluate the prevalence of DISH and early-phase DISH in an American population and to assess the extent and pattern of ectopic mineralization across the thoracic spine. Methods Data were retrieved in collaboration with the Rochester Epidemiology Project. We conducted a retrospective image evaluation of a sample of individuals over 19 years of age with CT of the thoracic spine from a Northern US catchment area. Stratified random sampling by age and sex was used to populate the study. We examined the prevalence and extent of ectopic mineralization along the thoracic spine using previously established criteria. Results A total of 1536 unique images (766 female and 770 male individuals) including 16 710 motion segments were evaluated for imaging features of the continuum of DISH. Collectively, 40.5% of all motion segments evaluated displayed evidence of ectopic mineralization in the thoracic spine. The prevalence of early-phase DISH was 13.2% (10.4% of female and 15.8% of male individuals). The prevalence of established DISH was 14.2% (7.4% of female and 20.9% of male individuals). Remarkable heterogeneity was detected in individuals within each disease classification, based on the extent of the thoracic spine affected and degree of mineralization. Conclusions The continuum of imaging features associated with DISH is detected in more than one in four adults and both sexes in an American population. [ABSTRACT FROM AUTHOR]

Psoriatic arthritis (PsA) is a complex inflammatory disease with varied clinical characteristics. A pathognomonic characteristic of PsA is enthesitis. Entheseal inflammation ultimately leads to the production of new bone (enthesophytes). Dickkopf-related protein-1 (DKK-1) is a wingless (Wnt) inhibitor that inhibits osteoblast function. Assessment of the serum level of DKK-1 and its association with disease activity and enthesopathy in PsA patients. This observational case–control study included 50 PsA patients and 50 healthy volunteers matched for age and gender. All participants were subjected to full medical history, clinical assessment, PSA activity using Disease Activity Index for Psoriatic Arthritis (DAPSA) score, the severity and extent of psoriasis were determined by the Psoriasis Area and Severity Index (PASI). Ultrasonographic assessment of the entheses was done in accordance with the Madrid Sonographic Enthesitis Index (MASEI). Serum level of DKK-1 and correlation with disease activity and enthesopathy in PsA patients were assessed. There was no significant difference between patients and controls regarding age and sex. The mean value of SPARCC index, DAPSA score and PASI score were 6.74 ± 4.58, 33.24 ± 15.26, and 8.35 ± 10.93, respectively. There was significant difference between patients and controls regarding the serum levels of DKK-1 and MASEI score (p < 0.0001). There was a significant positive correlation between serum DKK-1 and MASEI (r : 0.43527, p : 0.00158), MASEI inflammatory (r : 0.37958, p : 0.00655), and MASEI damage (r : 0.38384, p : 0.00593). Serum DKK-1 levels were elevated in PsA patients and were found to be correlated with MASEI score for enthesopathy. [ABSTRACT FROM AUTHOR]

Background and Objectives: The early recognition of tendon alterations in chronic hemodialysis (HD) patients, an awareness of the factors that influence the condition, and active intervention have considerable clinical relevance. The aim of this study was to investigate the musculoskeletal ultrasound (MSUS) features of the Achilles tendon in chronic HD patients and determine the factors associated with tendon abnormalities. Materials and Methods: This study was conducted on 46 HD patients and 24 sex- and age-matched controls. All participants were evaluated clinically for any signs of Achilles tendon abnormalities. Then, the Achilles tendon was scanned bilaterally using MSUS. Results: Among the 92 Achilles tendons in the HD patients, there was tenderness and swelling of only two (2.2%). Regarding MSUS features, there were statistically significant higher thicknesses in the proximal end (p < 0.001), midpoint (p < 0.001), and distal end (p < 0.001) of the Achilles tendons in the HD patients when compared with the healthy controls. Tendinosis was found in 12 (13%) of the HD patients' Achilles tendons, which was statistically significant in comparison to the healthy controls (p = 0.008). There were statistically significant higher scores of structural abnormalities (p = 0.005), bone erosions (p = 0.017), and calcifications (p = 0.015) in the HD patients when compared to the healthy controls. According to the results of a univariate regression analysis, age and male gender were predictive for US abnormalities in HD patients (p = 0.002 and 0.025, respectively). Conclusions: The Achilles tendon in subjects on chronic HD showed frequent US abnormalities. These abnormalities in HD patients appear to be more related to age and gender and may be asymptomatic. [ABSTRACT FROM AUTHOR]

Aim:The Juvenile Spondyloarthritis Disease Activity Index (JSpADA) is the only disease activity score specifically validated for children with enthesitis-associated arthritis (ERA). It was developed to address the need for an effective measurement tool to assess disease activity in this population. We aimed to evaluate the clinical course of patients with ERA using JSpADA and to compare the effects of treatment modalities using JSpADA.Methods:This cross-sectional observational study enrolled 61 patients with ERA who were followed up between January 2020 and 2023. Clinical features, treatment options, and JSpADA were noted in electronic medical files. The effectiveness of treatment modalities was compared by JSpADA.Results:The median age of onset of the group was 10 [interquartile range (IQR), 9-15] years. The study cohort included three groups of patients: 1) DMARD received (n=34); 2) biologic drug received (n=14); 3) DMARD and biological combination received (n=13). Forty-three cases (70%) presented with peripheral arthritis, including enthesitis, whereas 18 (30%) patients had axial involvement. At disease onset, the median JSpADA scores were 2 (IQR, 2-3), 2.5 (IQR, 2-3), and 3.5 (IQR, 2.5-5) in groups 1, 2, and 3, respectively (p=0.27). At the first year of follow-up, there was a significant improvement in the disease activity of groups 1 and 2 (p=0.02 and p=0.04). However, there was no significant reduction in JSpADA values in the third group.Conclusion:In patients with ERA, intermittent JSpADA evaluation during visits can guide the objective and accurate follow-up and treatment response of patients.

Lateral epicondylitis, commonly known as Tennis Elbow, affects approximately 1-3% of the population. Despite the absence of histological evidence of inflammation in the affected tissue, the term “epicondylitis” implies inflammation. The Extensor Carpi Radialis Brevis (ECRB) muscle is primarily affected, and the condition is attributed to excessive use of this muscle. Non surgical treatment options, such as rest, physiotherapy, cortisone injection, platelet-based therapies, and restricted movements, are recommended. Surgical intervention is suggested for cases involving physical impairment or chronic pain. This review aims to provide healthcare professionals with an understanding of the condition, including its causes, symptoms, diagnosis, and treatment planning options.

Background Knowledge of the base rate of signal changes consistent with distal biceps tendinopathy on magnetic resonance imaging (MRI) has the potential to influence strategies for diagnosis and treatment of people that present with elbow pain. The aim of this study is to measure the prevalence of distal biceps tendon signal changes on MRIs of the elbow by indication for imaging. Methods MRI data for 1,306 elbows were retrospectively reviewed for mention of signal change in distal biceps tendon. The reports were sorted by indication. Results Signal changes consistent with distal biceps tendinopathy were noted in 197 of 1,306 (15%) patients, including 34% of patients with biceps pain, 14% of patients with unspecified pain, and 8% of patients with a specific non-biceps indication. Distal biceps tendon changes noted on radiology reports were associated with older age, male sex, and radiologists with musculoskeletal fellowship training. Conclusions The finding that distal biceps MRI signal changes consistent with tendinopathy are common even in asymptomatic elbows reduces the probability that symptoms correlate with pathology on imaging. The accumulation of signal changes with age, also independent of symptoms, suggests that tendon pathology persists after symptoms resolve, that some degree of distal biceps tendinopathy is common in a human lifetime, and that tendinopathy may often be accommodated without seeking care. Level of evidenceIV.

Quinolone antibiotics are frequently prescribed for suspected respiratory or urinary tract infections because of their effectiveness and generally perceived safety profile. On the other hand, some studies have raised concerns regarding the potential association between quinolone use and Achilles tendinopathy or tendon rupture. There is a lack of reports on the link between quinolone use and multiple tendon and tendon attachment site pain in the foot and ankle joints; hence, this study examined this issue further. This paper presents a case report of a patient with persistent Achilles tendinopathy and multiple tendon and tendon attachment site pain in the foot who did not respond adequately to conservative treatments. In particular, the discontinuation of quinolone use resulted in favorable clinical outcomes. This report offers valuable insights into the potential risks associated with quinolone antibiotics and highlights the importance of vigilance when managing patients with tendon-related complaints. A comprehensive review of the relevant literature is also presented to contextualize these findings. [ABSTRACT FROM AUTHOR]

Background: Knowledge of the base rate of signal changes consistent with distal biceps tendinopathy on magnetic resonance imaging (MRI) has the potential to influence strategies for diagnosis and treatment of people that present with elbow pain. The aim of this study is to measure the prevalence of distal biceps tendon signal changes on MRIs of the elbow by indication for imaging. Methods: MRI data for 1,306 elbows were retrospectively reviewed for mention of signal change in distal biceps tendon. The reports were sorted by indication. Results: Signal changes consistent with distal biceps tendinopathy were noted in 197 of 1,306 (15%) patients, including 34% of patients with biceps pain, 14% of patients with unspecified pain, and 8% of patients with a specific non-biceps indication. Distal biceps tendon changes noted on radiology reports were associated with older age, male sex, and radiologists with musculoskeletal fellowship training. Conclusions: The finding that distal biceps MRI signal changes consistent with tendinopathy are common even in asymptomatic elbows reduces the probability that symptoms correlate with pathology on imaging. The accumulation of signal changes with age, also independent of symptoms, suggests that tendon pathology persists after symptoms resolve, that some degree of distal biceps tendinopathy is common in a human lifetime, and that tendinopathy may often be accommodated without seeking care. Level of evidence: IV. [ABSTRACT FROM AUTHOR]

Aim: The Juvenile Spondyloarthritis Disease Activity Index (JSpADA) is the only disease activity score specifically validated for children with enthesitis-associated arthritis (ERA). It was developed to address the need for an effective measurement tool to assess disease activity in this population. We aimed to evaluate the clinical course of patients with ERA using JSpADA and to compare the effects of treatment modalities using JSpADA. Methods: This cross-sectional observational study enrolled 61 patients with ERA who were followed up between January 2020 and 2023. Clinical features, treatment options, and JSpADA were noted in electronic medical files. The effectiveness of treatment modalities was compared by JSpADA. Results: The median age of onset of the group was 10 [interquartile range (IQR), 9-15] years. The study cohort included three groups of patients: 1) DMARD received (n=34); 2) biologic drug received (n=14); 3) DMARD and biological combination received (n=13). Forty-three cases (70%) presented with peripheral arthritis, including enthesitis, whereas 18 (30%) patients had axial involvement. At disease onset, the median JSpADA scores were 2 (IQR, 2-3), 2.5 (IQR, 2-3), and 3.5 (IQR, 2.5-5) in groups 1, 2, and 3, respectively (p=0.27). At the first year of follow-up, there was a significant improvement in the disease activity of groups 1 and 2 (p=0.02 and p=0.04). However, there was no significant reduction in JSpADA values in the third group. Conclusion: In patients with ERA, intermittent JSpADA evaluation during visits can guide the objective and accurate follow-up and treatment response of patients. [ABSTRACT FROM AUTHOR]

X-linked hypophosphatemia (XLH) is characterized by mutations in the PHEX gene, leading to elevated serum levels of FGF23, decreased production of 1,25 dihydroxyvitamin D3 (1,25D), and hypophosphatemia. Those affected with XLH manifest impaired growth and skeletal and dentoalveolar mineralization as well as increased mineralization of the tendon–bone attachment site (enthesopathy), all of which lead to decreased quality of life. Many molecular and murine studies have detailed the role of mineral ions and hormones in regulating complications of XLH, including how they modulate growth and growth plate maturation, bone mineralization and structure, osteocyte-mediated mineral matrix resorption and canalicular organization, and enthesopathy development. While these studies have provided insight into the molecular underpinnings of these skeletal processes, current therapies available for XLH do not fully prevent or treat these complications. Therefore, further investigations are needed to determine the molecular pathophysiology underlying the complications of XLH.

Introduction: After limb loss, many patients undergo treatment with an osseointegrated implant. Unfortunately, some develop persistent peristomal pain after surgery. This can be sufficiently severe to reduce the speed of their rehabilitation or may halt the process altogether. The pain may be due to an enthesopathy of the residual muscles. We describe the phenomenon and outcomes of treatment in a series of patients who underwent treatment with an osseointegrated prosthetic limb, bone-anchor. Materials and Methods: Over 36 months, we followed 14 patients with symptoms consistent with enthesopathy. Thirteen had undergone treatment with a transfemoral bone-anchor and one underwent treatment with a transhumeral bone-anchor. One patient had a bilateral transfemoral amputation. Analysis of the patients' ages, heights, weight at the time of surgery, length of residual femur, or preoperative dual-energy x-ray absorptiometry scans showed no correlation with the development of enthesopathy pain. Thirteen patients received steroid injections. Most received at least one injection of Adcortyl™ and bupivacaine. Patients were then encouraged to follow a program of physiotherapy to stretch out their enthesis, after injection. Results: All patients experienced relief from their symptoms, but only two were rendered completely pain free. The remaining 11 patients gained sufficient control of their symptoms to allow them to continue daily use of their prosthesis with less difficulty or, where rehabilitation had been delayed or halted completely, to resume this process. Conclusion: Enthesopathy seems to be a common phenomenon after bone-anchor surgery in individuals with transfemoral amputation. Steroid injections can help to relieve pain, allowing physiotherapy to be carried out. Patients undergoing treatment with a bone-anchor should be advised of the possibility of enthesopathy pain but can be reassured that there is a solution that works well in most cases. Clinical Relevance: This article may be of benefit to clinicians who are struggling to manage patients with persistent peristomal pain after insertion of a bone-anchor. It may also encourage further research into measures for securing the soft tissues around the stoma for patients undergoing bone-anchor surgery. [ABSTRACT FROM AUTHOR]

Context: Conventional treatment of X-linked hypophosphatemia (XLH) was reported to prevent dental complications, but whether the preventive effect was different among different types of teeth, including anterior teeth and molar teeth, is uncertain. Evidence of the preventive effect of conventional treatment on ectopic ossifications is also limited. Objective: To compare dental complications and ectopic ossifications among adults with XLH with early (<5 years old) or late (≥5 years old) conventional treatment. Methods: This retrospective observational study included a total of 30 adults with XLH; orthopantomograms, spinal computed tomography scans, and X-rays of hip/knee joints were studied. Dental complications, including the decayed, missing, filled (DMF) index and devitalized teeth, apical periodontitis, and periodontitis, were evaluated. The ossification of the anterior/posterior longitudinal ligament and yellow ligament indexes (OA/OP/OY indexes) and the sum of the OA/OP/OY indexes (OS index) were utilized to evaluate the severity of spinal ligament ossification. The severity of the hip/knee osteophytes was evaluated using the Kellgren--Lawrence (KL) classification. Results: The number of sound teeth was significantly lower and the DMF index was significantly higher in patients with late treatment. The severity of dental complications in the anterior tooth and molar tooth, OA/OP/OY/OS index, and KL grade were not significantly different among patients with early treatment and those with late treatment. Conclusion: Early treatment could prevent dental complications but did not prevent ectopic ossification in adult patients with XLH. The difference in the preventive effect was not observed among different types of teeth. [ABSTRACT FROM AUTHOR]

Akin to approaches encouraged by Verano (1997) in the Andes, and Ortner (2011, 2012) for general paleopathological studies, this article focuses on accurate descriptions and definitions of osteoarthritis, entheses, and long bone cross-sectional geometry. By evaluating these conditions as part of biological responses to abnormal skeletal changes and biomechanical stress, this research discusses each condition's pathogenesis. Further, this article emphasizes a "small data" approach to evaluating these conditions in ancient culturally and biologically related human populations, where the study samples must have good skeletal preservation, where estimates of age and sex need to be included as major factors, and where abnormalities need to be described and evaluated. This article also discusses global clinical and osteological research on ways scholars are currently trying to establish industry-wide methods to evaluate osteoarthritis, entheses, and long bone cross-sectional geometry. Recent studies have focused on rigorous evaluation of methodological techniques, recording protocols, and inter- and intra-observer error problems. Additionally, scholars have focused on physical intensity of movement using biomechanics, evaluated burials of known occupation, and used complex statistical methods to help interpret skeletal changes associated with these conditions. This article also narrows to focus on these conditions within thematic "small data" areas throughout the Andes. This research concludes with describing future directions to understand skeletal changes, such as more multidisciplinary studies between osteologists and pathologists, collaborations with living people to collect CT, x-rays, or computer-aided motion capture, and a stronger focus on how these conditions correlate with intense biomechanical changes in younger individuals.

Background: Despite the progress made in the study of psoriasis and psoriatic arthritis, their early diagnosis and treatment for practicing physicians continue to be a difficult problem. Material and methods: 100 people were examined, including 70 patients with psoriatic arthritis aged between 18 and 60 years (23 men and 47 women), admitted to the rheumatology and arthrology departments of the Timofei Mosneaga Republican Clinical Hospital 2019-2022 (Favorable opinion of the Committee for Research Ethics, No 21 of 21.12.2019). The control group included 30 people with rheumatoid arthritis. Results: Ultrasound signs of damage to the joint structures were detected, such as synovitis (p=0.26), cartilage changes (p=0.433), enthesopathy (p=0.980) and tenosynovitis, statistically significant differences (p=0.800). Magnetic resonance imaging determined that fluid was the predominant symptom in frequency (n=13, 92.86%), including in the small joints of the hands (n=1, 100%) and feet (n=2, 100%). Conclusions: In large joints, the proliferation of the synovial membrane was detected in 51.67% of the joints and had predominantly high echogenicity. At small joints, synovial proliferation with predominantly low echogenicity occurred only in 6.1% of the joints.

Background: X-linked hypophosphatemia (OMIM 307800) is a rare bone disease caused by a phosphate-wasting condition with lifelong clinical consequences. Those affected suffer from bone pain, complex skeletal deformities, impaired mobility and a reduced quality of life. Early osteoarthritis and reduced range of motion of the lower limbs are known pathologies in XLH patients. However, XLHspecific data on the affected compartments such as the ankle joint through the evaluation of radiographic and gait analysis data is still lacking. Patients and methods: In this cross-sectional study, patients with genetically verified XLH, age ≥ 16 - 50 years and a complete record of gait analysis and or radiographic analysis data were included. Clinical examination, radiological and gait analysis data were compared to norms using the dataset of our gait laboratory registry. Radiographic analysis included tibial deformity analysis and assessment of osteoarthritis and enthesopathies. Western Ontario and McMaster Universities Arthritis Index (WOMAC), SF36v2, American Orthopedic Foot and Ankle Society score (AOFAS) and the Foot and Ankle Outcome Score (FAOS) were used. Twentythree participants with 46 limbs were eligible for the study. Results: A total of 23 patients (n=46 feet) met the inclusion criteria. Patients with XLH had significantly reduced gait quality, ankle power and plantar flexion (p < 0.001) compared to a historic gait laboratory control group. Ankle valgus deformity was detected in 22 % and ankle varus deformity in 30 % of the patients. The subtalar joint (59.1%) as well as the anterior tibiotalar joint (31.1%) were the main localizations of moderate to severe joint space narrowing. Ankle power was decreased in moderate and severe subtalar joint space narrowing (p < 0.05) compared to normal subtalar joint space narrowing. No lateral or medial ligament instability of the ankle joint was found in clinical examination. Tibial procurvatum deformity led to lower ankle power (p < 0.05). Conclusions: This study showed structural and functional changes of the ankle in patients with XLH. Subtalar ankle osteoarthritis, patient reported outcome scores and clinical ankle restriction resulted in lower gait quality and ankle power. [ABSTRACT FROM AUTHOR]

Entheses, which are tendon‐to‐bone attachment sites in the musculoskeletal system, play important roles in optimizing the mechanical stress and force transmitted from the muscle to the bone. Sports‐related enthesopathy shows pathological features, including hyperplasia of the fibrocartilage (FC) region in the enthesis. The amount of exercise and type of muscle contraction during movement is involved in the pathogenesis of sports‐related enthesopathy; however, the details of this condition are unclear. Here we examined the molecular pathways involved in the morphological changes of the muscle–tendon–enthesis complex and enthesis FC region in the supraspinatus muscle enthesis of mice under different exercise conditions. Following intervention, morphological changes in the muscle–tendon–enthesis complex were initiated in the eccentric contraction‐dominant exercise group at 2 weeks, with activation of the transforming growth factor‐β (TGFβ) superfamily pathway predicted by proteome and ingenuity pathway analyses. Histological and molecular biological analyses confirmed the activation of the TGFβ/bone morphogenetic protein (BMP)‐Smad pathway. The concentric contraction‐dominant exercise group showed no change in the morphology of the muscle–tendon–enthesis complex or activation of the TGFβ/BMP‐Smad pathway, despite overuse exercise. Statement of Clinical Significance: These results suggest that eccentric contraction‐dominant exercise induces sports‐related enthesopathy‐like morphological changes in the early stages as well as molecular biological changes, mainly in the transforming growth factor‐β superfamily pathway in enthesis. Statement of Clinical Significance: These results suggest that eccentric contraction‐dominant exercise induces sports‐related enthesopathy‐like morphological changes in the early stages as well as molecular biological changes, mainly in the transforming growth factor‐β superfamily pathway in enthesis. [ABSTRACT FROM AUTHOR]

X-linked hypophosphatemia (XLH) is characterized by mutations in the PHEX gene, leading to elevated serum levels of FGF23, decreased production of 1,25 dihydroxyvitamin D3 (1,25D), and hypophosphatemia. Those affected with XLH manifest impaired growth and skeletal and dentoalveolar mineralization as well as increased mineralization of the tendon–bone attachment site (enthesopathy), all of which lead to decreased quality of life. Many molecular and murine studies have detailed the role of mineral ions and hormones in regulating complications of XLH, including how they modulate growth and growth plate maturation, bone mineralization and structure, osteocyte-mediated mineral matrix resorption and canalicular organization, and enthesopathy development. While these studies have provided insight into the molecular underpinnings of these skeletal processes, current therapies available for XLH do not fully prevent or treat these complications. Therefore, further investigations are needed to determine the molecular pathophysiology underlying the complications of XLH. [ABSTRACT FROM AUTHOR]

Purpose: Foot entheses involvement is a common manifestation of spondyloarthritis. The superiority of ultrasonography examination in foot entheses damages detection has been reported. We aimed to compare the ultrasonography findings of foot entheses between spondyloarthritis patients. and healthy controls and to identify factors associated with enthesitic heel involvement. Methods: We conducted a cross-sectional study including 37 patients with axial spondyloarthritis (G1) and 37 healthy subjects matched by age and gender (G0). The following pro-inflammatory cytokines were measured: Interleukin (IL-)1, IL-6, IL-17, and IL-23. A blind ultrasonography of foot entheses was performed to examine calcaneal tendon (CT) and plantar fascia (PF). Results: The mean age was 44.62 ± 12.31 years. Non-steroidal anti-inflammatory drugs were taken in 92% of patients. Clinical heel enthesopathy was noted in 10 patients (27%) of G1. No participant has enthesitic pain in G0. Ultrasonography changes in CT and PF were more frequent in G1 than G0 (p = 0.001 and p = 10–3, respectively). In the PF, tendon thickening was significantly higher in G1 than G0 (p = 0.03). Power Doppler in both enthesitic sites was exclusively observed in G1 (p = 10–3). Regarding associated factors, CT enthesophytes were less frequent in patients taking non-steroidal anti-inflammatory drugs continuously or having regular physical activity. PF structural damages were associated with higher erythrocyte sedimentation rate (p = 0.02), higher IL-23 level (p = 0.01), and higher disease activity (p = 0.04). Conclusion: Ultrasonography lesions of heel entheses were frequent in spondyloarthritis. Disease activity and inflammatory markers were higher in patients with heel enthesitis. Non-steroidal anti-inflammatory drugs intake and regular physical activity may prevent enthesophytes' occurrence. [ABSTRACT FROM AUTHOR]

Background and Objectives: The early recognition of tendon alterations in chronic hemodialysis (HD) patients, an awareness of the factors that influence the condition, and active intervention have considerable clinical relevance. The aim of this study was to investigate the musculoskeletal ultrasound (MSUS) features of the Achilles tendon in chronic HD patients and determine the factors associated with tendon abnormalities. Materials and Methods: This study was conducted on 46 HD patients and 24 sex- and age-matched controls. All participants were evaluated clinically for any signs of Achilles tendon abnormalities. Then, the Achilles tendon was scanned bilaterally using MSUS. Results: Among the 92 Achilles tendons in the HD patients, there was tenderness and swelling of only two (2.2%). Regarding MSUS features, there were statistically significant higher thicknesses in the proximal end (p < 0.001), midpoint (p < 0.001), and distal end (p < 0.001) of the Achilles tendons in the HD patients when compared with the healthy controls. Tendinosis was found in 12 (13%) of the HD patients’ Achilles tendons, which was statistically significant in comparison to the healthy controls (p = 0.008). There were statistically significant higher scores of structural abnormalities (p = 0.005), bone erosions (p = 0.017), and calcifications (p = 0.015) in the HD patients when compared to the healthy controls. According to the results of a univariate regression analysis, age and male gender were predictive for US abnormalities in HD patients (p = 0.002 and 0.025, respectively). Conclusions: The Achilles tendon in subjects on chronic HD showed frequent US abnormalities. These abnormalities in HD patients appear to be more related to age and gender and may be asymptomatic.

Adult X-linked hypophosphatemia (XLH) patients present with specific symptoms, including enthesopathies (e.g., ossification of longitudinal ligaments (OPLL), osteophytes around large joints, and enthesopathy in the Achilles tendons), early osteoarthritis, the development of severe secondary and tertiary hyperparathyroidism (SHPT/THPT), and the subsequent progression of chronic kidney disease (CKD). In addition, these patients exhibit the typical phenotypes of osteomalacia, such as pseudofracture and fracture in weight-bearing bones, odontitis, and tooth abscesses. The mechanism underlying enthesopathy development is unknown; however, a common underlying mechanism among XLH and autosomal recessive hypophosphatemic rickets (ARHR1/2) due to mutations in PHEX, DMP1, and ENPP1 is assumed. Clarification of the pathogenesis and drug discovery for this complication is an urgent issue, as many adult XLH patients suffer subsequent debilitating nervous symptoms or impingement syndrome, and existing treatments are ineffective. Severe SHPT and THPT are associated with conventional therapy, including active vitamin D and phosphate supplementation, and complicated and careful adjustment of dosages by experienced clinicians is required to avoid SHPT/THPT. Burosumab is a very effective therapy without risk for the development of SHPT/THPT. However, indications for this drug should be carefully considered, along with cost-effectiveness, guidelines or recommendations, and the health care system of each country.

Abstract Background There is no much information about the entheseal involvement among hemodialysis (HD) patients. The aim of this study was to assess the frequency and distribution of ultrasonographic (US) entheseal alterations in HD patients and to evaluate the association between US abnormalities and both clinical and laboratory data. Methods This study was conducted on 41 HD patients and 23 sex- and age- matched controls. All participants were evaluated clinically for any signs of enthesopathy. Six entheses sites were scanned bilaterally using grey scale (GS) and power Doppler (PD) US and were scored using Madrid Sonography Enthesitis Index (MASEI) scoring system. Results In HD patients, at least one clinical sign suggestive of enthesopathy was found in 69 (14%) of 492 entheses. HD patients had statistically significant higher scores of structural tendon abnormalities (p

BackgroundX-linked hypophosphatemia (OMIM 307800) is a rare bone disease caused by a phosphate-wasting condition with lifelong clinical consequences. Those affected suffer from bone pain, complex skeletal deformities, impaired mobility and a reduced quality of life. Early osteoarthritis and reduced range of motion of the lower limbs are known pathologies in XLH patients. However, XLH-specific data on the affected compartments such as the ankle joint through the evaluation of radiographic and gait analysis data is still lacking.Patients and methodsIn this cross-sectional study, patients with genetically verified XLH, age ≥ 16 - 50 years and a complete record of gait analysis and or radiographic analysis data were included. Clinical examination, radiological and gait analysis data were compared to norms using the dataset of our gait laboratory registry. Radiographic analysis included tibial deformity analysis and assessment of osteoarthritis and enthesopathies. Western Ontario and McMaster Universities Arthritis Index (WOMAC), SF36v2, American Orthopedic Foot and Ankle Society score (AOFAS) and the Foot and Ankle Outcome Score (FAOS) were used. Twentythree participants with 46 limbs were eligible for the study.ResultsA total of 23 patients (n=46 feet) met the inclusion criteria. Patients with XLH had significantly reduced gait quality, ankle power and plantar flexion (p < 0.001) compared to a historic gait laboratory control group. Ankle valgus deformity was detected in 22 % and ankle varus deformity in 30 % of the patients. The subtalar joint (59.1%) as well as the anterior tibiotalar joint (31.1%) were the main localizations of moderate to severe joint space narrowing. Ankle power was decreased in moderate and severe subtalar joint space narrowing (p < 0.05) compared to normal subtalar joint space narrowing. No lateral or medial ligament instability of the ankle joint was found in clinical examination. Tibial procurvatum deformity led to lower ankle power (p < 0.05).ConclusionsThis study showed structural and functional changes of the ankle in patients with XLH. Subtalar ankle osteoarthritis, patient reported outcome scores and clinical ankle restriction resulted in lower gait quality and ankle power.

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