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An impaired expression of interferon-α regulated genes has been reported in patients with either systemic lupus erythematosus (SLE) or Aicardi-Goutières syndrome (AGS), a rare monogenic encephalopathy with onset in infancy. One of mutations causing AGS is located in the TREX1 gene on chromosome 3. Heterozygous mutations in TREX1 were reported in SLE patients. TREX1 is a DNA exonuclease with specificity for ssDNA. An impairment of its activity may result in the accumulation of nucleid acid. A recent study described a significant association between a haplotype including several common single nucleotide polymorphisms (SNPs) of TREX1 and neurological manifestations in European SLE patients. Fifty-one SLE patients were screened for TREX1 gene, and the corresponding data were collected from clinical charts. A novel heterozygous variant (p.Asp130Asn) was identified in one patient and in none of 150 controls. A missense variation was located in one of the three active sites of the gene and was classified as probably damaging. Variations of SNP rs11797 were detected in 33 SLE patients and a variation of rs3135944 in one. A significantly higher rate of the minor allele (T nucleotide) of SNP rs11797 was found in SLE patients with neuropsychiatric manifestations [12/16 (75%) vs 28/86 (32.5%) O=0.002, odds ratio=6.42 95% confidence interval (1.7-26.2)]. Only 1 out of 8 patients (12.5%) with neuropsychiatric SLE carried the wild-type form in homozygosity. Although we analyzed a small number of patients, we found a novel variation of TREX1, which may be pathogenic. The polymorphism of rs11797 was more frequent in SLE patients with neurological manifestations.

The objective of this study was to evaluate the predictive factors for achieving partial remission (PR) in patients with ankylosing spondylitis (AS) treated with anti-TNFα. We longitudinally enrolled in a multi-center study 214 AS patients, classified according to New York criteria, treated with anti-TNFα drugs adalimumab (ADA), etanercept (ETA) and infliximab (INF) with at least 12 months of follow up. PR was reached when the score was

The traditional management of psoriatic arthritis (PsA) includes NSAIDs, corticosteroids and DMARDs. Advancement in the knowledge of the immunopathogenesis of PsA has been associated with the development of biologic agents which have revolutionized the management of the disease. Among biologics drugs, there are the 4 currently availablee anti-TNFα blocking agents (etanercept, infliximab, adalimumab and golimumab) which are more effective than traditional DMARDs on symptoms/signs of inflammation, quality of life, function, and in inhibiting the progression of the structural joint damage. Despite of the high cost, TNF inhibitors are costeffective on both the musculoskeletal and skin manifestations of psoriatic disease.

Imaging of psoriatic arthritis (PsA) is important for two reasons: the differential diagnosis from other arthritides and the assessment of structural damage that can be inhibited by the new drugs such as the anti-TNFα agents. Plain film radiographic findings of peripheral arthritis have been important in elaborating the concept of PsA as a separate disease entity. Characteristic aspects of psoriatic peripheral arthritis help the differentiation from rheumatoid arthritis. High-resolution ultrasonography (US), US combined with power Doppler (PDUS) and magnetic resonance imaging (MRI) can be used to image joint synovitis of PsA. Radiologic features of spondylitis associated with psoriasis are similar to spondylitis associated with reactive arthritis and differ from those of primary ankylosing spondylitis (AS) and the spondylitis associated with inflammatory bowel disease. MRI is very sensitive for the early diagnosis of sacroiliitis. There have been no MRI studies on the spine of patients with PsA. In primary AS bone oedema in the vertebral bodies is an indicator of active disease and can ameliorate during anti-TNFα therapy. Historically, plain film radiography have played a pivotal role in defining enthesitis lesions of SpA. However, entheseal bone changes appear late. US and MRI have proved to be a highly sensitive and non invasive tools. Recent US and MRI studies on both finger and toe dactylitis have established that dactylitis is due to flexor tenosynovitis and marked adjacent soft tissue swelling with a variable degree of small joint synovitis. There is no evidence of enthesitis of the insertion of the flexor digitorum tendons and of the attachment of the caspsule of the digit joints. Key words: Enthesitis, dactylitis, spondyloarthritis, ultrasound, magnetic resonance, imaging

Objectives. To evaluate the characteristics of pain in a cohort of Italian patients with osteoarthritis (OA) of the hip and knee. Methods. The 657 general practitioners participating in the study were asked to enroll 10 consecutive patients with OA diagnosed according to the American College of Rheumatology (ACR) clinical criteria. A questionnaire evaluating demographic data, clinical characteristics of OA, including the “Questionario Semantico Reumatologico” (QSR) pain questionnaire, the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) and the Lequesne indices, and information on previous diagnostic and therapeutic interventions was administered. Results. A total of 4,109 patients were enrolled. Of them, 2356 were affected by knee OA and 1817 by hip OA. There were 2863 (69.7%) women and 1246 (30.3%) men. Median age was 68.2 years (range 50-103 years). Of the 4109 enrolled subjects, 3128 (76.1%) reported one or more medical comorbidities, mostly cardiovascular (52.7%), endocrinological (14.7%), gastrointestinal (13.4%), and respiratory (11.2%) disorders. The median pain visual analogue scale (VAS) score was 58.1±22.6 mm, higher in women (60.2±22.3 mm) than in men ( 53.3±22.6mm) (p

The spondyloarthritis (SpA) complex includes ankylosing spondylitis (AS), reactive arthritis, psoriatic arthritis, arthritis related to inflammatory bowel disease and forms that do not meet established criteria for these definite categories which are designated as undifferentiated SpA. In the early 1990s, two sets of classification criteria were suggested with the purpose to cover the whole clinical spectrum of SpA: the Amor criteria and the European Spondylarthropathy Study Group (ESSG) criteria...

L’artrite psoriasica (AP) è sempre stata considerata una malattia più lieve dell’artrite reumatoide (AR) e ad evoluzione non invalidante. Studi recenti hanno invece dimostrato che circa il 40% dei pazienti ha una malattia erosiva con sviluppo di deformità (1, 2). Similmente all’AR, una terapia aggressiva con uno o più farmaci di fondo nelle fasi iniziali potrebbe ostacolare la progressione del danno articolare. Inoltre, diversamente dall’AR, la AP può interessare anche lo scheletro assiale dove può dare limitazione funzionale e deformità simili a quelle della spondilite anchilosante (SA). Il trattamento iniziale dell’AP prevede l’uso dei farmaci anti-infiammatori nonsteroidei (FANS) e delle infiltrazioni locali di steroidi. I farmaci di fondo sono riservati alle forme resistenti e destruenti. Methotrexate (MTX), sulfasalazina (SSZ) e ciclosporina (CsA) sono i farmaci di fondo più frequentemente utilizzati, anche se non vi sono studi controllati che abbiano dimostrato la loro capacità di bloccare l’evoluzione erosiva dell’artrite periferica (3-8). Per quanto riguarda l’interessamento assiale tali farmaci non sono in grado di controllare i sintomi quali dolore e rigidità mattutina (5). Recentemente una nuova classe di farmaci, in grado di bloccare il tumor necrosis factor TNF (anti- TNF), si è dimostrata efficace nel rallentare l’evolutività erosiva nella AR e nel controllare i sintomi della SA (9, 10)...

Reactive Arthritis (ReA) is an aseptic synovitis developing after a primary infection distant from the joint, mainly localized in the gastrointestinal (Enteroarthritis) or genitourinary tract (Uroarthritis). Because of either the asymmetric joint involvement, the possibility of involvement of the spine and enthesis, and the HLA-B27 association ReA is considered one of the spondylarthropathies. Recently, bacterial components or viable bacteria were found in joints during ReA. For this reason, the limits between ReA itself and infectious arthritis are now less definite. Generally accepted diagnostic and classification criteria are still lacking but the improvement in techniques for detection of bacteria increase the possibility to identify the triggering agents. Several studies have examined the role of antimicrobial drugs in ameliorating the natural course of ReA, with some positive results for Uroarthritis only. However, more conventional treatments based on NSAIDs, Sulfasalazine and steroids are effective in many cases.

Objectives: To evaluate the characteristics of pain in a cohort of Italian patients with osteoarthritis (OA) of the hip and knee., Methods: The 657 general practitioners participating in the study were asked to enroll 10 consecutive patients with OA diagnosed according to the American College of Rheumatology (ACR) clinical criteria. A questionnaire evaluating demographic data, clinical characteristics of OA, including the "Questionario Semantico Reumatologico" (QSR) pain questionnaire, the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) and the Lequesne indices, and information on previous diagnostic and therapeutic interventions was administered., Results: A total of 4,109 patients were enrolled. Of them, 2356 were affected by knee OA and 1817 by hip OA. There were 2863 (69.7%) women and 1246 (30.3%) men. Median age was 68.2 years (range 50-103 years). Of the 4109 enrolled subjects, 3128 (76.1%) reported one or more medical comorbidities, mostly cardiovascular (52.7%), endocrinological (14.7%), gastrointestinal (13.4%), and respiratory (11.2%) disorders. The median pain visual analogue scale (VAS) score was 58.1+/-22.6 mm, higher in women (60.2+/-22.3 mm) than in men (53.3+/-22.6mm) (p<0.00001). OA pain was also higher in patients from Southern Italy (p<0.00001). NSAIDs were administered to nearly 70% of patients, COX-2 inhibitors to 55%, disease-modifying anti OA drugs to 19% and analgesics to 28.2%. Differences in drugs utilization were associated with OA localization and patient's geographical origin. Results of the WOMAC index were similar throughout groups. Responses to the QSR pain questionnaire showed differences, which are related to OA localization and geographical origin of the patients., Conclusions: The MI.D.A. study can help to better understand the patterns of pain in osteoarthritis and the associated treatment.

Reactive Arthritis (ReA) is an aseptic synovitis developing after a primary infection distant from the joint, mainly localized in the gastrointestinal (Enteroarthritis) or genitourinary tract (Uroarthritis). Because of either the asymmetric joint involvement, the possibility of involvement of the spine and enthesis, and the HLA-B27 association ReA is considered one of the spondylarthropathies. Recently, bacterial components or viable bacteria were found in joints during ReA. For this reason, the limits between ReA itself and infectious arthritis are now less definite. Generally accepted diagnostic and classification criteria are still lacking but the improvement in techniques for detection of bacteria increase the possibility to identify the triggering agents. Several studies have examined the role of antimicrobial drugs in ameliorating the natural course of ReA, with some positive results for Uroarthritis only. However, more conventional treatments based on NSAIDs, sulfasalazine and steroids are effective in many cases.