Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0152031 (swollen joints)
 535 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A rare case of progressive pseudorheumatoid dysplasia (PPD) in a 9-year-old girl is presented. Clinically, chronic painless swollen joints, accompanied by progressive motion restriction and progressive walking difficulties, were found. Radiologically, there was enlargement of the epimetaphyseal portions of the large joints, metacarpal heads, and phalanges, and generalized platyspondyly with irregular delineation of the endplates of the vertebral bodies. The radioclinical features at the peripheral joints were originally misdiagnosed as juvenile rheumatoid arthritis (JRA), and the structural spinal abnormalities were neglected and interpreted as Scheuermann's disease. However, the absence of active inflammatory parameters argues against JRA, whereas the low age of onset of the irregularities at the vertebral endplates is an argument against the diagnosis of Scheuermann's disease. The combination of the dysplastic abnormalities of the spine, with platyspondyly and Scheuermann-like lesions at an unusually low age of onset, and radiological features mimicking JRA of the peripheral joints, is the clue to the diagnosis of this rare autosomal-recessive disease. This case is the first to document the MRI features of PPD of the spine.
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PMID:Progressive pseudorheumatoid dysplasia. 1109 16

In this study, we investigated the usefulness of contrast-enhanced MRI with maximum intensity projection (MIP) as a convenient tool for detecting early rheumatoid arthritis (RA). A total of 21 patients with undiagnosed arthritis of the hands at the initial visit were enrolled in a prospective study over a 1-year period. The number of swollen joints found during physical examination at this first visit, the results of serological tests and the number of synovitis joints diagnosed on MIP images were compared between the RA group and non-RA group. Of the 21 patients, 17 (81%) from the initial study who were followed up for an additional 1 year entered this study. Of these, 5 met the conditions for diagnosis of RA during follow-up, and 12 did not. MIP images were used to review the arthritis of RA patients, and a significant difference was found in the number of synovitis inflammations detected with MIP images when compared with findings after physical examinations. The two criteria of positive CARF and/or anti-CCP antibody and symmetrical synovitis in bilateral hands on MIP images allowed the prediction of RA with 100% sensitivity and 75% specificity. Thus, MIP is a useful tool for making early diagnosis of RA because it yields clear visualization even with just one image.
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PMID:Maximum intensity projection as a tool to diagnose early rheumatoid arthritis. 1831 77

In many medical treatment areas, the use of treatment targets has led to improved outcomes, including a reduction in end-organ damage. In rheumatology, appropriate targets appear elusive, although preventing joint damage, minimizing disability and improving mortality are end results on which most clinicians would agree. Sophisticated measures of disease activity, particularly in early disease, have only recently been objectively evaluated. Swollen joint count, tender joint count, acute-phase reactants, citrullinated antibody titres (ACPAs), patient and physician assessment of disease activity, radiographs and other imaging modalities such as US and MRI may all be appropriate to measure. A number of composite measures have been proposed as possible or practical methods for defining RA disease activity. Some require testing of acute-phase reactants, but several do not. ACR20/50/70 scores are useful for measuring change from visit to visit, while others (DAS28, HAQ, Simplified Disease Activity Index, Clinical Disease Activity Index and Routine Assessment of Patient Index Data) assess disease activity at a single point. Disease measures have now been used in myriad clinical trials and studies. The FIN-RACo, TICORA, CAMERA and BeSt trials employed measures of disease activity at predetermined points to guide treatment decisions. These trials supported the consistent use of objective measures to derive significant benefits from treat-to-target strategies. The concept that objective measures can guide aggressive treatment to reach a defined optimal end point or target is a strategy that rheumatologists hopefully might now agree is critically important.
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PMID:Rheumatoid arthritis disease measurement: a new old idea. 2322 83

Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mutations in the HPGD gene in chromosome 4q34.1 or the SLCO2A1 gene in 3q22.1q22.2. Here, we report on a 20-year-old male with enlarged and swollen joints with arthralgia, palmoplantar hyperhidrosis, and large hands and feet with marked digital clubbing. We also present radiographic, MRI, and ultrasonographic features of the case. These clinical and imaging findings were compatible with the diagnosis of PHO, and a novel homozygous mutation, c.576C>G, p.Ile192Met, was found in SLCO2A1.
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PMID:Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings. 3120 70