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Objectives: We aimed to investigate the prevalence of US findings in the hand joints and related tendons and explore clinical and laboratory associations in SLE patients of the typical lupus clinic., Methods: One hundred consecutive SLE patients were enrolled in the study. Using B-mode and Doppler US, bilateral wrist, metacarpophalangeal and proximal interphalangeal joints were examined for synovitis and erosions, as well as for signs of hand tenosynovitis., Results: US detected synovitis (grade 1-3) in 75% and erosive changes in 25% of the cohort. We found that clinical examination underestimated grade ≥2 synovitis by 13%, while US detected SH grade ≥2 in 10% of asymptomatic patients. The overall inflammatory burden, reflected by the US score, was associated with disease activity (respectively with CPR, SELENA-2K, MS-BILAG, and hypocomplementemia), as well as the presence of bone erosions. Rhupus patients had higher inflammatory markers, significantly more synovial hypertrophy, more erosions, more grade 3 tenosynovitis, and were more likely to receive methotrexate (p<0.001) than patients with SLE arthritis, while patients with Jaccoud's arthropathy were more likely to accumulate damage. The dominant hand exhibited more inflammatory changes (respectively synovial hypertrophy grade ≥2) at both the wrist and MCP joints; however, handedness was not associated with structural damage., Conclusions: In conclusion: 1. joint involvement in SLE is frequent and underacknowledged; 2. the overall inflammatory burden is associated with systemic disease activity and joint damage; (3) destructive arthritis is more likely to occur in the context of concomitant RA or within an "RA-like" subtype of SLE arthropathy; 4. hand dominance is associated with synovitis, but not structural changes; 5. US assessment may help tailor the management of joint involvement, thus preventing joint damage and disability in SLE patients.

Parotid non-Hodgkin lymphoma (NHL) in primary Sjögren syndrome (pSS) has no specific biomarker for diagnosis. Salivary glands ultrasound (US) is largely used, but its contribution in detecting parotid NHL has not been established. The aim of our study was to determine the added value of bidimensional shear wave elastography (2D-SWE) in pSS diagnosis and to determine its accuracy in identifying parotid NHL. Grey-scale US (GSUS) and 2D-SWE of salivary glands were performed in 35 patients with pSS and 35 healthy controls. The GSUS scores were calculated and the mean of three SWE consecutive measurements was used to appreciate the gland stiffness. SWE increase the diagnostic rate at a cut-off of 6.45 kPa (from 88.6 to 94.2%, p < 0.001) only if applied in patients with insufficient GSUS criteria for pSS diagnosis. The parotid glands with NHL (8 patients, all mucosa-associated lymphoid tissue type) had hyperechoic bands in more than half of the glandular parenchyma (in 68.75% of the glands), large hypoechoic area > 20 mm (all glands), traced gland area over 5 cm 2 (all glands), parotid US score greater than 13 (in 68.75% of the glands), and high stiffness (elasticity modulus 13.9 ± 4.08 vs 6.32 ± 2.24) (all p < 0.001). These findings give high sensitivity (92.3%), specificity (100%), and positive (100%) and negative predictive values (98.3%) for NHL identification. The rest of GSUS findings did not correlate with the classic risk factors for lymphoma development (all p > 0.05). 2D-SWE had added value for pSS diagnosis in cases where GSUS aspect is normal or nonspecific. The higher stiffness of parotid NHL can be used for early diagnosis, biopsy guidance, and, possible, for treatment monitoring.

Aim: To evaluate the presence and distribution of calcium pyrophosphate (CPP) deposits in joints commonly affected by CPP deposition (CPPD) disease (acromio-clavicular, gleno-humeral, wrists, hips, knees, ankles, and symphysis pubis joints) using ultrasound (US)., Material and Methods: Thirty consecutive patients fulfilling McCarty diagnostic criteria for CPPD were consecutively enrolled in the study. The data registered using the US included the affected joints, the calcification site, and the pattern of calcification (thin hyperechoic bands, parallel to the surface of the hyaline cartilage, hyperechoic spots, and hyperechoic nodular or oval deposits). The presence of CPP crystals in knees was confirmed by polarized light microscopy examination of the synovial fluid and radiographs of the knees were performed in all patients., Results: In 30 patients, 390 joints were scanned, (13 joints in every patient). The mean±standard deviation number of joints with US CPPD evidence per patient was 2.93±1.8 (range 1-9). The knee was the most common joint involved both clinically and using US examination. The second US pattern (with hyperechoic spots) was the most frequent. Fibrocartilage calcifications were more common than hyaline calcification. Using radiography as reference method, the sensitivity and specificity of US for diagnosis CPPD in knees was 79.31%, 95CI(66.65%-88.83%), and 14.29%, 95CI(1.78%-42.81%), respectively., Conclusions: The knee is the most frequent joint affected by CPPD. The second ultrasound pattern is the most common. CPPD affects the fibrocartilage to a greater extent than the hyaline cartilage.

A 46-year-old female patient presented with photosensitivity, symmetric arthritis, episodic plantar pain and strikingly redundant plantar skin folds, likely due to lipoatrophy after recurrent episodes of plantar panniculitis. In this context, leukopenia with lymphopenia, thrombocytopenia and positive antinuclear antibodies were revelatory for systemic lupus erythematosus. However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third syndactyly and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal Proteus syndrome. Genetic confirmation could not be performed. As adipose tissue dysregulation may be a feature of Proteus syndrome, the possible mechanisms leading to localized lipoatrophy in this setting are discussed. This case enlights intriguing links between adipogenesis, inflammation and dysmorphology. From a practical point of view, finding and treating an over-imposed inflammation could help limit damage in a hamartomatous syndrome.

Background: Recent research suggests that biomarkers may be useful in assessing disease activity, structural damage, and response to therapy in axial spondyloarthritis (axSpA). Our study aims at evaluating the relationship between inflammation and bone remodeling markers and variables assessing disease activity and functional disability in patients with axSpA., Methods: Serum levels of sclerostin, matrix metalloproteinase-3 (MMP-3), interleukin-17 (IL-17), and IL-23 were measured in 60 patients with axSpA and 20 healthy controls. Disease activity was evaluated using Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Ankylosing Spondylitis Disease Activity Score (ASDAS), C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). Functional status was assessed by Bath Ankylosing Spondylitis Function Index (BASFI) and measures of spinal mobility., Results: Sclerostin levels were more elevated in axSpA patients with high disease activity than in those with low disease activity and in controls. They were significantly correlated with BASFI values (r = 0.29, p = 0.03) and measures of spinal mobility, but not with the classical markers of disease activity (BASDAI, ASDAS, CRP, and ESR). Although both MMP-3 and IL-17 levels were elevated in patients with active disease, they were not correlated with markers of disease activity or with functional disability. The levels of sclerostin, MMP-3, IL-17, and IL-23 were similar in axSpA patients and healthy controls., Conclusions: Elevated levels of sclerostin, MMP-3, and IL-17 were observed in axSpA patients with active disease, suggesting their potential role in assessing disease activity. In axSpA patients, sclerostin levels might be equally influenced by inflammation and level of physical activity. Further studies are required to confirm our findings in order to understand their clinical value.

Background: Our aim was to investigate the prevalence and clinical relevance of inherited complement and antibody deficiency states in a large series of patients with various autoimmune rheumatologic diseases (ARD) with juvenile onset., Methods: A total number of 117 consecutive patients from 2 tertiary referral hospitals were included in the study. All patients underwent genetic screening for type I C2 deficiency and C4 allotyping. Serum levels of immunoglobulin classes measured systematically throughout their regular medical care were recorded retrospectively., Results: Our cohort of patients included 84 with juvenile idiopathic arthritis (JIA), 21 with systemic lupus erythematosus (SLE), 6 with systemic vasculitis, 2 with juvenile scleroderma, 2 with idiopathic uveitis, 1 with mixed connective tissue disease and 1 with SLE/scleroderma overlap syndrome. We have found 16 patients with evidence of primary immunodeficiency in our series (13.7%), including 7 with C4 deficiency, 5 with selective IgA deficiency, 3 with C2 deficiency and 2 with unclassified hypogammaglobulinemia (one also presented C4D). Of the 84 patients with JIA, 4 (4.8%) had a complement deficiency, which was less prevalent than in the SLE cohort (23.8%), but all of them have exhibited an aggressive disease. Most of our patients with primary antibody deficiencies showed a more complicated and severe disease course and even the co-occurrence of two associated autoimmune diseases (SLE/scleroderma overlap syndrome and SLE/autoimmune hepatitis type 1 overlap)., Conclusions: Our findings among others demonstrate that complement and immunoglobulin immunodeficiencies need careful consideration in patients with ARD, as they are common and might contribute to a more severe clinical course of the disease.

Aim: The purpose of this study is to compare and correlate US evaluation with clinical scores of the disease activity in patients with rheumatoid arthritis (RA) and concomitant fibromyalgia (FM)., Material and Methods: Ten patients diagnosed with RA according to the 2010 ACR/EULAR classification criteria and associated FM based on the ACR 1990 classification criteria and two control groups, one with RA (10 patients) and one with FM (10 patients), were included. Clinical assessment was performed and the disease activity scores were calculated. Synovial/tenosynovial hypertrophy, fluid collections in grey scale (GS), and Power Doppler (PD) US assessed by US in the 28 joints included in the disease activity score 28 (DAS28)., Results: GS US score and PD US scores were correlated with DAS28 only in patients with RA (Pearson r coefficients 0.3 and 0.5). Mean DAS28 score was significantly higher in the RA/FM group, compared to RA and FM (5.6 versus 4.6 versus 4.5, respectively). Patients with RA/FM had similar median US scores to RA patients, while in FM group significantly lower median US scores were detected (16 versus 9.5 versus 0 for GS US and 3.5 versus 1.5 versus 0 for PD US, respectively)., Conclusions: Disease activity scores should be interpreted with caution in patients with RA and FM. When available, US should be used to guide treatment decisions in patients with RA and FM.

Aim: To evaluate the metacarpophalangeal (MCP) joints (MCP2 and 5) in healthy subjects by ultrasonography (US) using a high frequency transducer (18 MHz) and to verify the interobserver agreement., Material and Methods: We enrolled 50 healthy volunteers (37 women, age between 30-58 years, mean age 41.7 years, divided into 3 groups according to age: 30-39, 40-49, and 50-58 years). The subjects were successively evaluated by 4 rheumatologists: 2 experienced (team A) and 2 beginners (team B) in US. Seven dorsal and palmar longitudinal scanning positions and a supplementary scan for MCP cartilage were performed. The bone surface (erosions, osteophytes), the intra-articular content (synovial thickening and vascularization, 4 grade scale), and the aspect of the metacarpal head cartilage were analyzed. The anterior palmar recess was measured. The time for examination was recorded., Results: Erosions were detected in 7% of joints by team A and 2% by team B (p<0.05, kappa agreement 0.567) in subjects over 40 years. The agreement by team A in the detection of the erosions was very good (kappa value 0.83). A moderate positive correlation was obtained between the presence of erosions and age (r= 0.401, p=0.004). Osteophytes were identified only on the dorsal scan in subjects over 50 years (in 3.5% of joints team A, 1.5% team B, p>0.05, kappa value 0.421). No grade 1 synovitis was observed by team A but 4 joints with grade 1 synovitis were identified by team B (p<0.05) from the dorsal scan. The dimensions of the palmar recess had large distribution (MCP 2 between 0.55-1.3 mm; MCP 5 between 0.6-1.2 mm). No statistical significant differences were obtained when comparing the dimensions of the two hands, the values obtained in age-groups (all p>0.05). No statistical significant correlations were obtained between the dimensions of palmar recess and the body mass index or dominant hand (all p>0.05). No pathological findings were found in the examination of the metacarpal head cartilage. Power Doppler investigation found the presence of grade 1 signal in 2.5% joints by team A and 1.5% by team B (p>0.05) only in the dorsal scans. The mean time for examination was 7.8+/-1.74 min in team A and 13.78+/-2.96 min in team B (p<0.05)., Conclusions: In healthy subjects pathological findings are occasionally encountered, especially erosions and osteophytes. Using an 18 MHz transducer the aspect of grade 1 synovitis was not encountered in healthy non-inflammatory MCP joints. There is a permanent need for standardized training and examination in musculoskeletal US.

Alkaptonuria is a rare disease with autosomal recessive inheritance and variable expression. The weight-bearing joint involvement and spondylitis-like vertebral changes occur only after the 3rd decade. Musculoskeletal ultrasonographic findings in alkaptonuria were only rarely described, consisting mainly into enthesopathy and non-synovial tendon degeneration. We present the case of a 50 years old man with alkaptonuria and discuss the ultrasonographic findings and the relationship of the disease with chondrocalcinosis. The tendinous and synovial aspect may be peculiar and it could therefore allow recognition and screening for alkaptonuria, along with clinical and radiologic data.

Objective: The present study aimed to assess the role of ultrasound (US) in the rapid classification of early rheumatoid arthritis (RA) by investigating whether the US features of inflammation and bone damage in early arthritis overlap with the actual clinical concept of classifying and identifying an aggressive disease., Methods: Patients with recent-onset arthritis of at least 1 peripheral joint of the hands and/or the feet were consecutively included in this study. Clinical examination, laboratory tests, the Disease Activity Score 28 (DAS28), and the 2010 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria for RA were assessed for all patients. Medication with disease-modifying antirheumatic drugs was recorded. Ultrasound assessment was performed at the following anatomical sites: wrists, metacarpophalangeal joints 2 to 5, and metatarsophalangeal joints 2 to 5 for assessing the presence/absence of synovial hypertrophy, the presence/absence of power Doppler signal, and the presence/absence of bone erosions.The US features of inflammation and bone damage were analyzed in comparison with the DAS28, with the presence/absence of rheumatoid factor and anti-cyclic citrullinated peptide, with the fulfillment of the new 2010 ACR/EULAR classification criteria, and with the initiated disease-modifying antirheumatic drug. The prescription of methotrexate was considered a marker of an aggressive disease., Results: The US features of inflammation and bone damage correlated with the activity scores measured by the DAS28. The presence of US bone erosions overlapped with the presence of rheumatoid factor and anti-cyclic citrullinated antibodies. Synovial hypertrophy, intra-articular power Doppler signal, and bone erosions detected in at least 1 anatomical site were seen in patients fulfilling (77.7%) and in patients not fulfilling (72.7%) the 2010 ACR/EULAR classification criteria for RA. Synovial hypertrophy was found in at least 1 site in 83.3% and 58.8% of patients in whom methotrexate was prescribed and in whom methotrexate was not prescribed, respectively (P = 0.01). The US features were not correlated with the initiation of sulfasalazine or hydroxychloroquine. The patients presenting bone erosions received in significantly higher percentages the indication for methotrexate (50%) compared with sulfasalazine (20%), P = 0.03, or hydroxychloroquine (26%), P = 0.05., Conclusions: The US features of inflammation might be of help in classifying early arthritis patients despite the presence of the immune markers for RA. Together with the US features of bone damage, these might be used as an indicator of a more aggressive disease. The absence of correlation between the US findings of RA and the 2010 ACR/EULAR classification criteria indicates a possible independent contribution of US in the understanding of the future evolution of these patients.

The age at onset in early arthritis (EA) may influence the disease activity and its evolution. The aim of the current study is to identify possible differences regarding the "old" and the "new" classification criteria between patients with early-onset and late-onset early arthritis. The study included 64 patients. They were divided in two groups, according to the mean age: early-onset EA--less or equal than 45 years old (group A) and late-onset EA--over 45 years old (group B). The "old" criteria as well as the "new" ones were assessed for all patients, at the time of the first visit to the rheumatologist. The initiation of treatment with Methotrexate was used as "gold standard" to calculate the sensitivity and the specificity of both criteria. "New" criteria were fulfilled in 51% (A) and 72% of cases (B), while "old" criteria were fulfilled in 37% of patients (A) and 62% (B). Methotrexate was initiated in 82% of patients (B) and in 51% (A), p = 0.01. "New" criteria demonstrated a sensitivity of 77.7% (A) and 83.3% (B), while "old" criteria had a sensitivity of 50% (A) and 66.6% (B). Patients with late onset had significantly higher disease activity scores: 76% (B) versus 40% (A), p = 0.04. The sensitivity and the specificity of the "new" criteria for RA are comparable in patients with early-onset and late-onset EA, and the sensitivity of these criteria is increased compared to the "old" criteria. Patients with late onset fulfilling the "old" criteria had poor prognostic factors and higher disease activity at the time of diagnosis, which may have possible implications for the disease course.

Systemic AL amyloidosis is one of the differential diagnosis of chronic musculoskeletal disease, especially when swollen and painful joints is associated with claw hands. Ultrasound evaluation is a good diagnosis tool, showing a characteristic joint and tendon involvement and assisting in guided biopsy procedure. We report a 55 year old caucasian woman, diagnosed for two years with RA without improvement under different DMARDs, admitted for fixed flexion contractures of both hands ("claw hands"), worsening pain and swelling of small joints of hands and feet, elbows and shoulders. Pad shoulder sign and bilateral anterior wrist and elbow pads, macroglossia, thickened skin of fingers and ecchymotic rashes on forearm and around eyes were observed. Ultrasound examinations showed subdeltoid and bicipitoradial bursitis, presence of inhomogeneous hypoechoic material around bicipital tendons and tenosinovitis of the extensor tendons of the hand, and synovial thickening of elbow and shoulder joints. Complete analysis of the bone marrow biopsy and biopsy specimens from subacromial bursa were positive for AL amyloidosis.

Inflammation of synovium is one of the hallmarks of rheumatoid arthritis (RA). Analysis of synovial tissue has increased our understanding of RA pathogenesis, aided in identifying potential therapeutic targets and has been used in the response and mechanistic evaluation of antirheumatic treatments. In addition, studies are ongoing, aimed at the identification of diagnostic and prognostic biomarkers in the synovium. This paper outlines the currently used procedures for sampling and processing of synovial tissue, and presents a standardised recommendation to support multicentre translational research.

Objectives: To compare the diagnosis of shoulder impingement syndrome (SIS) established by clinical and ultrasonographic examination and to evaluate the value of clinical tests for SIS as well as for rotator cuff pathology., Methods: One hundred patients with periathrophatia scapulohumeralis entered the study, including 64 females and 36 males aged between 20-84 years (mean 56.8 and 57.5, respectively). Clinical and ultrasonographic examinations were carried out by independent observers, a rheumatologist and a musculoskeletal-trained sonographer. Clinical tests for SIS and for each of the tendons of the rotator cuff, as well as static and dynamic ultrasonographic examinations were performed for both shoulders. Findings were compared and statistically analyzed., Results: The Hawkins test (72.2%) proved to be the most sensitive clinical test for the identification of SIS and the Neer test (95.3%) was the most specific one. When four tests were simultaneously positive, the specificity for the diagnosis was 98.5% but the sensitivity decreased to 40.3%. Jobe's test indicated supraspinatus involvement with a specificity of 90% but it was not able to disclose the type of lesions. The sensitivity and specificity of the tests aiming to elicit infraspinatus tendon pathology were of low value whereas those addressing subscapularis tendon involvement were rather of moderate value. SIS was clinically correctly diagnosed in 80.5% of cases, but its characteristic stages were poorly recognized (stage I 50%, stage II 70%, and stage III 30.7%)., Conclusions: Although clinical tests are insufficient for clinical diagnosis, the examination of the patient still plays an important role in rotator cuff disorders. Ultrasonography should be used for all patients suffering from painful shoulder in order to improve the diagnosis.

Introduction: Tumor necrosis factor alpha (TNF alpha) blockers such as infliximab (IFX) and adalimumab (ADA) had significantly changed the course of inflammatory diseases such as rheumatoid arthritis (RA), spondyloarthritis (SpA) and Crohn's disease (CD). However, about 30% of patients do not respond to these treatments. This lack of response may be due to the formation of antibodies against these drugs (anti-drug antibodies: ADAbs). The aim of this study was to determine the prevalence of ADAbs against IFX and ADA, and the trough serum concentration of IFX and ADA in RA, SpA or CD patients and to assess their impact on the therapeutic response., Methods: A cross sectional, multi-centric study was conducted, including patients with RA, SpA or CD treated with IFX or ADA as a first biotherapy for at least 6 months. ADAbs and trough levels were measured by an Enzyme Linked Immunosorbent assay (ELISA)., Results: 197 patients were included (57 RA, 73 SpA and 67 CD). ADAbs were positive in 40% of cases for IFX and 25% for ADA. They were positive in 40% of SpA, 35% of RA, and 21% of CD. The presence of ADAbs was inversely correlated to the trough levels of IFX and ADA during RA (p = 0.01 and p < 0.0001), SpA (p < 0.01 and p < 0.0001) and CD (p = 0.001 and p = 0.04). For all pathologies, the presence of ADAbs was not correlated with disease activity. Concomitant methotrexate significantly reduced immunogenicity., Conclusion: In our study, the presence of ADAb and low trough levels seem to not affect the therapeutic response in patients on TNF alpha antagonists. Other tracks more than immunogenicity should be investigated to explain the loss of response to these biotherapies., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Introduction: Fibromyalgia (FM) is a chronic painful condition frequently associated with rheumatoid arthritis (RA), which may falsely increase RA activity. The aim of our study was to compare clinical scoring and ultrasound (US) assessment in RA patients with concomitant FM with those without FM., Methods: A cross-sectional study including patients with RA according to the ACR/EULAR 2010 criteria was conducted. Patients were divided into two groups: RA patients meeting ACR 2016 FM criteria (cases) and RA patients not meeting FM criteria (controls). Clinico-biological and US assessments of RA activity were performed on the same day for each patient., Results: Eighty patients distributed into 40 patients in each group were recruited. Biologic DMARD prescription was more frequent in RA with FM patients than the control group (p = 0.04). DAS28 was significantly greater than DAS28 V3 in RA with FM group (p = 0.002). FM group had significantly less US synovitis (p = 0.035) and less Power Doppler (PD) activity (p = 0.035). Grey scale US score (p = 0.87) and DP US score (p = 0.162) were similar in the two groups. The correlation between the clinical and the ultrasonographic scores was strong to very strong in both groups with the strongest correlation found between DAS28 V3 and US DAS28 V3 (r = 0.95) in RA + FM group., Conclusion: Our study confirms the overestimation of disease activity by the clinical scores in RA with concomitant FM. DAS28 V3 score and US assessment would represent a better alternative., (© 2023 John Wiley & Sons Ltd.)

The aim of this study is to characterise lupus-related arthritis and assess if the presence of ultrasound-detected erosions could be associated with belimumab in the treatment of systemic lupus erythematosus (SLE) articular manifestations. We performed a spontaneous, monocentric, retrospective, and observational study. We enrolled patients affected by SLE with articular involvement treated with belimumab. We excluded patients with positive rheumatoid factor (RF) or anti-citrullinated peptide antibody (ACPA), Jaccoud's arthropathy, and radiographic erosions. Patients were assessed at baseline, 3, and 6 months. We collected laboratory and clinical data from electronic records. Joint disease activity was assessed using disease activity score on 28 joints based on C-reactive protein (DAS28-CRP), swollen and tender joints count. All patients underwent an ultrasound examination of the wrist, metacarpophalangeal, proximal interphalangeal, and metatarsal-phalangeal joints before the initiation of treatment with belimumab. We performed Student's T-test and Mann-Whitney's U-test to assess the difference between means and Fisher's exact test to assess difference in proportions, and linear univariate regression to investigate predictors of disease activity. We enrolled 23 patients (female 82.6%, mean age of 50.65 ± 14.1 years). Seven patients (30.4%) presented bone erosions at baseline. Patients with bone erosions were generally older (61 ± 16.1 vs 46.13 ± 10.7 years, p = 0.016), more frequently male (42.8 vs 6.2%, p = 0.03), with higher baseline CRP levels (10.29 ± 11.6 vs 2.25 ± 3.1 mg/L, p = 0.015) and C4 levels (0.19 ± 0.17 vs 0.1 ± 0.04 g/L, p = 0.05). After 6 months of treatment with belimumab, patients without erosions improved their DAS28-CRP significantly (2.95 ± 0.89 vs 2.26 ± 0.48, p = 0.01), while patients with erosions did not (3.6 ± 0.79 vs 3.2 ± 0.95, p = 0.413). DAS28-CRP did not differ between the two groups at baseline, while it was significantly lower at the other two time points in patients without erosions. The majority of patients achieved remission at 6 months follow-up based on DAS28-CRP criteria (73.9%), with a significant difference between patients with and without erosions (42.8 vs 87.5%, p = 0.045). The presence of articular ultrasound-detected erosions could be predictive of a decreased efficacy of belimumab in the articular manifestations of SLE. A possible explanation is a rheumatoid-like articular phenotype, despite the lack of ACPA-positivity and radiologic erosions. However, due to the small sample population, larger cohorts are needed to assess the possible predictive role of this finding., (© 2023. The Author(s), under exclusive licence to International League of Associations for Rheumatology (ILAR).)

Alkaptonuria is a disease often forgotten because of its rarity. Its pathogenic mechanism is the deficiency of one of the enzymes of the tyrosine degradation pathway-homogentisate-1, 2-dioxygenase, which sequelae is accumulation and deposition of its metabolite homogentisic acid in connective tissues and urine. Alkaptonuria presents as a clinical triad-darkening urine upon prolonged exposure to air, pigmentation of connective tissues and debilitating arthropathy. We present a case report of a 67-year old patient with alkaptonuria who presented with the clinical triad, but was mistakenly diagnosed as having ankylosing spondylitis in the past. Currently there is no treatment for the disease hence the management strategy was focused on symptoms control with analgesics, physical therapy, dietary modification, vitamin C supplementation, and joint arthroplasty. Alkaptonuria's clinical features are extensively described in the literature and despite the fact that it is a rare disease, due to the similar radiographic changes with spondyloarthropathies, it should be included in the differential diagnosis in young patients presenting with severe joint involvement. Early recognition of the disease is necessary since its natural evolution is joint destruction leading to significant reduction in the quality of life. Alkaptonuria's articular features in the spine and peripheral tissues are well described using the classical imaging techniques. Musculoskeletal ultrasonography shows a characteristic set of findings in the soft tissues, including synovium, cartilage, tendons and entheses., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Fibrinogen to albumin ratio (FAR) is a newly investigated indicator for inflammation. The study aimed to explore the potential ability of FAR in assessing the severity of inflammation in spondyloarthritis., Methods: The clinical data of 196 spondyloarthritis (SpA) patients, 66 osteoarthritis (OA) patients, and 81 healthy controls (HC) were collected in this retrospective study. The SpA group included 69 psoriatic arthritis patients, 47 reactive arthritis patients and 80 ankylosing spondylitis patients. Chi-square test and Mann-Whitney U test, Spearman's correlation test, regression analysis, and ROC analyses were used for the analysis of FAR., Results: FAR level in group SpA was higher than in OA or HC. In the SpA group, the reactive arthritis group was characterized by the highest FAR level. After matching the erythrocyte sedimentation rate, a significant difference occurred between groups SpA and OA, but not in SpA subgroups. The FAR level was significantly related to erythrocyte sedimentation rate and C-reactive protein. After regression and receiver operating characteristics analysis, FAR was considered the most potential pointer to evaluate inflammation in SpA with the area under curve of 0.95. The recommended cut-off value of FAR was 9.44 for serious inflammation and 8.34 for mild conditions., Conclusion: FAR is closely related to inflammatory biomarkers and can be a potential indicator in the assessment of inflammation in spondyloarthritis., (© 2022. The Author(s).)

The primary aim of this study was to verify if shear wave elastography can be used to evaluate salivary gland involvement in primary Sjögren's syndrome (pSS). The secondary objective was to establish an accurate cut-off value for parotid and submandibular salivary gland stiffness and to verify whether there are any distinctions among pSS patients with or without subjective mouth dryness. This prospective study included 45 patients with pSS (2016 ACR/EULAR classification criteria) and 108 healthy controls. All subjects underwent bilateral shear wave elastography of the parotid and submandibular salivary glands. Clinical data of pSS patients were collected and compared to elastography results. Patients with pSS had significantly higher shear wave elastography values for the parotid and submandibular salivary glands than the controls. There were no statistical differences in SWE values between patients with or without mouth dryness. The optimal cut-off value (mean value of 4 salivary glands shear wave elastography results) to distinguish patients with or without pSS was 13.19 kPa with sensitivity = 97.8% and specificity = 100.0%. It was, therefore, confirmed that shear wave elastography measurement of salivary glands has strong predictive ability in pSS detection (AUC 97.8%, 95% CI 93.4-100.0%). Shear wave elastography seems to be a promising, non-invasive and simple quantitative adjunct test to support the diagnosis of pSS with good sensitivity and specificity. More extensive prospective studies are needed to standardize a study protocol., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

The spectrum of axial spondyloarthritis (AxSpA) (including both non-radiographic and radiographic AxSpA), also known as ankylosing spondylitis AS, has achieved growing recognition. With the development of treatments not only effective in controlling disease activity but also in slowing radiographic progression, and given the cost and risk profiles of these novel treatments and the limitations of current clinical criteria, imaging and peripheral blood biomarkers (C-reactive protein, HLA-B27 testing), the need for better biomarkers has never been greater. The purpose of this review is to present up-to-date information on the biomarkers for the diagnosis for assessing disease diagnosis, activity, treatment response, and radiographic progression of AxSpA, and entails multiple search strings used to identify articles of interest published in PubMed and the Cochrane database up to May 1, 2021. We present the current status of research in serologic biomarkers such as cytokines, adipokines, matrix metalloproteinases, calprotectin, CD74, antibodies, bone turnover markers, and circulating protein fragments of cartilage and connective tissue degradation and other biomarkers. Despite a great deal of work, most serologic results have been disappointing and to date none perform better than CRP. Recent promising preliminary data for some has been published, but require further confirmation. Transcriptomic biomarkers such as micro-RNAs and genetic biomarkers also show promise to assist in diagnosis and possibly for radiographic severity, including a recently developed panel of genetic risk markers used in a polygenic risk score instrument in AS diagnosis. These need further confirmation and application in AS as well as in nr-AxSpA., (© 2021. International League of Associations for Rheumatology (ILAR).)

Objective: To evaluate musculoskeletal ultrasound (MSUS) as a screening tool for rheumatoid arthritis (RA) and osteoarthritis (OA) patients in a rheumatology-screening program., Patients and Methods: To raise awareness for rheumatic diseases, a mobile rheumatology office was deployed in different cities of Germany ("Rheuma-Truck"). Standardized questionnaire assessment, testing for rheumatoid factor and citrullinated peptide antibodies and medical student driven MSUS of the clinically dominant hand/foot including wrist, MCP-II, -III, -V, PIP-II, -III, MTP-II and -V were offered free of charge to the population. In case of suspicious results, a rheumatologist was consulted., Results: In MSUS, 192 of 560 selected volunteers (aged 18-89, mean 52.7 years; 72.9% female) had suspicious findings including synovitis or erosions primarily affecting the MTP-II (11.8%), dorsal wrist (8.9%), and MCP-II (7%). 354 of the 560 volunteers further visited a rheumatologist of whom 76 were diagnosed with RA. According to the 'US7 Score', a sum scores ≥ 5 was significantly predictive for RA (odds ratio (OR) 5.06; confidence interval (CI) 0.83-35.32). 313 volunteers displayed signs of OA including osteophytes, while MCP-II (36.2%), MCP-III (14.8%), and the wrist (10.5%) were mostly affected. Diagnosis of RA was favoured over OA if the wrist (OR 4.2; CI 1.28-13.95), MTP-II (OR 1.62; CI 1.0-2.6), and MCP-V (OR 2.0; CI 1.0-3.8) were involved., Conclusion: Medical student driven MSUS by the 'US7 Score' can facilitate diagnosis of RA in rheumatology-screening programs due to the level of the score and the affected joints. A high rate of unknown OA signs was detected by MSUS. A mobile rheumatology office displays an opportunity to screen patients for RA and OA., (© 2021. The Author(s).)

Mouth and genital ulcer with inflamed cartilage syndrome (MAGIC syndrome) is a rare autoinflammatory disorder with unknown etiology. Except for the common clinical manifestations mimicking Behçet's disease and relapsing polychondritis, some other clinical entities are occasionally observed. In this report, we present a case in which a patient developed anaplastic large cell lymphoma 1 year after the diagnosis of MAGIC syndrome. Additionally, we review the clinical manifestations, management, and prognosis of MAGIC syndrome.

Objective: To preliminarily explore the diagnostic potential of ultrasound (US) in detecting calcium pyrophosphate (CPP) crystal deposits at the hip joint in a cohort of patients with CPP deposition disease (CPPD) who were previously evaluated by conventional radiography (CR) and to assess the sensitivity and specificity as well as the agreement between US and CR in the evaluation of hip CPP crystal deposits., Methods: Fifty consecutive patients with definite CPPD and 40 age/sex/body mass index-matched disease control subjects who had undergone hip CR within the previous 6 months were enrolled. Bilateral hip US examination was carried out to assess the presence of CCP crystal deposits at the acetabular labrum fibrocartilage and at the femoral head's hyaline cartilage. Two independent radiologists evaluated the presence of hip CPP crystal deposits on CR in both groups., Results: US findings indicative of CPP crystal deposits were found in at least 1 hip in 45 of 50 patients with CPPD (90.0%) and in 73 of 100 hips (73.0%). CPP crystal deposits were more frequently found at the acetabular labrum fibrocartilage than at the femoral head's hyaline cartilage (72% and 17% of the hips in patients with CPPD, respectively). US and CR sensitivity was 90% and 86%, whereas US and CR specificity was 85% and 90%, respectively. Total agreement between the US and CR findings was 77.8%., Conclusion: Our results provide new evidence supporting US as a first-line, sensitive, safe, and reliable imaging technique in detecting CPP crystal deposits at the hip level., (© 2018, American College of Rheumatology.)

Ochronosis is the process in alkaptonuria (AKU) that causes all the debilitating morbidity. The process involves selective deposition of homogentisic acid (HGA)-derived pigment in tissues altering the properties of these tissues, leading to their failure. Some tissues like cartilage are more easily affected by ochronosis while others such as the liver and brain are unaffected for reasons that are still not understood. In vitro and mouse models of ochronosis have confirmed the dose relationships between HGA and ochronosis and also their modulation by p-hydroxyphenylpyruvate dioxygenase inhibition. Ochronosis cannot be fully reversed and is a key factor in influencing treatment decisions. Earlier detection of ochronosis preferably by noninvasive means is desirable. A cause-effect relationship between HGA and ochronosis is discussed. The similarity in AKU and familial hypercholesterolaemia is explored and lessons learnt. More research is needed to more fully understand the crucial nature of ochronosis., (© 2019 SSIEM.)

Case: A thirty-nine-year-old man with alkaptonuria presented with low back pain. Imaging demonstrated lumbar scoliosis, extensive irregularities of end-plate vertebral margins, and Thompson Grade-V disc degeneration. Six months later, the patient returned with a herniated L2-L3 disc. Minimally invasive disc surgery was performed, and harvested disc tissue showed marked extracellular matrix changes and ochronotic pigment deposits., Conclusion: Scattered previous literature is available regarding disc changes in alkaptonuria. Although rare, alkaptonuria appears to severely impact the disc as reflected by cellular and matrix inclusions that contribute to disc-cell pathology.