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Cimaz R.,Rheumatology Unit
Current rheumatology reports | Year: 2014

The mucopolysaccharidoses (MPSs) are a group of rare genetic disorders of glycosaminoglycan catabolism, caused by a deficiency of lysosomal enzymes required for GAG degradation. Incomplete breakdown of glycosaminoglycans leads to progressive accumulation of these substances in many tissues throughout the body. Different residual enzymatic activity can result in different phenotypes of the same MPS disorder, from severe to attenuated. Musculoskeletal manifestations are common across all forms of MPS. Skeletal and joint abnormalities are prominent features of many MPS disorders, particularly attenuated phenotypes. However, diagnostic delays occur frequently for patients with an MPS, especially those with more attenuated forms of disease. In the absence of appropriate treatment, these conditions are chronic, progressive and often debilitating, but treatment for many types of MPS is now available. Therefore, increasing awareness of MPS among rheumatologists is extremely important.

Ch'ng S.S.,Rheumatology Unit
International journal of rheumatic diseases | Year: 2013

The modified Rodnan skin score is widely accepted as a validated tool to assess skin involvement in systemic sclerosis, which is a hallmark of this heterogeneous disease. Ultrasonography is increasingly being utilized in the study of other rheumatic diseases. The utility of ultrasonography to measure skin thickness in systemic sclerosis has been explored since three decades ago. The aim of this review was to examine the validity of ultrasonography as an outcome measure of skin involvement in systemic sclerosis. Original articles in English, published before December 2010, pertaining to the use of B mode ultrasound assessing skin involvement in systemic sclerosis were reviewed. Data were extracted with a focus on criterion and construct validity, reproducibility and responsiveness to change. Seventeen papers were analyzed. Skin thickness was most commonly studied, although skin echogenicity has also been examined. There was heterogeneity with regards to subjects, definitions used and sites imaged. Although there was limited information regarding reliability, when reported, the results showed excellent reproducibility. There was also a lack of construct and criterion validity and evidence for sensitivity to change. Ultrasound has potential as an outcome measure in systemic sclerosis. However, more work needs to be done in order to prove that it is a feasible outcome measure with proven validity. © 2013 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

To update the 2006 Italian Society for Rheumatology recommendations for the use of biologic (TNF-α blocking) agents in the treatment of psoriatic arthritis (PsA). A panel of experts performed a literature search and identified the items that required updating on the basis of new published data. A draft of the updated recommendations was circulated to a group of Italian Rheumatologists with a specific expertise in PsA and in therapy with biologic agents, and their suggestions were incorporated in the final version. A consensus was achieved regarding the initiation and the monitoring of anti-TNF-α agents in PsA. Inclusion and exclusion criteria were defined and specific recommendations were made for patients with psoriatic peripheral synovitis, spondylitis, enthesitis, and dactylitis, respectively. We also specified criteria for assessment of response to treatment and for withholding and withdrawal of therapy. These recommendations may be used for guidance in deciding which patients with PsA should receive biologic therapy. Further updates of these recommendations may be published on the basis of the results of new clinical studies and of data from post-marketing surveillance.

Smith M.D.,Rheumatology Unit
Open Rheumatology Journal | Year: 2011

This paper describes the structure and function of the normal synovium including the cellular content, nerve and vascular supply and how normal synovium maintains homeostasis within the joint. It is important to understand normal synovium before appreciating the changes that occur in the synovial membrane which leads to the pathology seen in inflammatory arthritides such as Rheumatoid Arthritis. © Malcolm D. Smith.

Andersson U.,Karolinska University Hospital | Harris H.E.,Rheumatology Unit
Biochimica et Biophysica Acta - Gene Regulatory Mechanisms | Year: 2010

HMGB1 is a ubiquitous nuclear protein that can be released by any damaged cell or by activated macrophages and certain other cell types. HMGB1 has been successfully therapeutically targeted in multiple preclinical models of infectious and sterile diseases including arthritis. Extracellular HMGB1 mediates inflammation via induction of cytokine and metalloproteinase production and recruitment and activation of dendritic cells needed for priming of naïve T helper type 1 lymphocytes. HMGB1 can bind endogenous molecules such as IL-1β and nucleosomes and exogenous agents like endotoxin and microbial DNA. These complexes synergistically increase the capacity for activation of adaptive and innate immunity. HMGB1-nucleosome complexes induce autoantibody formation against double-stranded DNA and nucleosomes, which does not occur if HMGB1 is absent. These antibodies are central in the pathogenesis of systemic lupus erythematosus and patients with active disease have both increased HMGB1 and HMGB1-nucleosome levels in circulation. Furthermore, HMGB1 is strongly bipolar charged, enabling cell membrane passage and intracellular transport of complexed molecules including DNA. Rheumatoid arthritis patients have excessive extracellular HMGB1 levels in joints and serum. The HMGB1 release is caused by cytokines, activated complement and hypoxia. The most prominent HMGB1 protein and mRNA expression arthritis is present in pannus regions, where synovial tissue invades articular cartilage and bone. HMGB1 promotes the activity of proteolytic enzymes, and osteoclasts need HMGB1 for functional maturation. Neutralizing HMGB1 therapy in preclinical models of arthritis confers striking protection against structural damage. This review summarizes selected aspects of HMGB1 biology relevant for induction and propagation of some autoimmune conditions. © 2009 Elsevier B.V. All rights reserved.

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