Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01889 (ankylosing spondylitis)
5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Plain film radiography is the most widely used imaging technique for diagnosing and monitoring the progression of chronic inflammatory and degenerative joint diseases. Advanced imaging techniques that are better suited for detecting soft-tissue inflammation are available, but they are more costly and some of them may expose the patient to higher doses of radiation. Plain film radiographs are inexpensive, easy to generate, can be compared with baseline and prospective films, and provide a permanent, reproducible record. Radiographs can easily detect the features that are specific to various rheumatological disorders, and serial radiography can be used to assess response to therapy by measuring erosions, joint space narrowing, and other disease-specific features. This chapter discusses the use of radiography for diagnosing and differentiating various rheumatic joint diseases, specifically rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis and osteoarthritis. The most frequently used scoring systems that are used to assess and monitor the severity and progression of these disorders are briefly described.
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PMID:Radiography in the assessment of musculoskeletal conditions. 1278 14

Inflammatory bowel diseases (IBD), as Crohn's disease (CD) or ulcerative colitis (UC), are frequently complicated by joint complaints with prevalence that varies between 10 and 28%. The IBD related arthropathy may be expressed as peripheral arthritis or axial one frequently indistinguishable from the classical ankylosing spondylitis (AS). According to ESSG criteria for spondyloarthropathy, the presence of synovitis or the inflammatory back pain (IBP) in IBD patients is diagnostic for spondyloarthropathy, but for diagnosis of ankylosing spondylitis also radiological criteria must be fulfilled. There are few studies regarding the radiological prevalence of sacroiliitis in patients with IBD. We examined, by plain film radiograms of pelvis, 100 sacroiliac joints (SJ) of 50 IBD patients with IBP. The New York (1984) SJ radiological score with gradation from 0 to 4 was applied. Total sacroiliac score (SJS) was summarized between left and right side (from 0 to 8). Fourteen patients fulfilled New York modified criteria for AS and 8 patients had unilateral 2nd grade sacroiliitis. Only 4 of 14 AS patients (28%) were HLA B27 positive. Thirty patients had localized IBP, 10 extended to buttock and 4 extended to sacrum. Sixteen patients had sciatica-like extension of back pain. A difference in SJS between left and right side was observed only in CD patients (1.3 +/- 0.8 and 0.8 +/- 0.9 respectively; p < 0.05), but not in UC (1.5 +/- 1.2 vs 1.5 +/- 1.3; p = ns) nor in total IBD patients (1.4 +/- 1.0 vs 1.2 +/- 1.2; p = ns). Total SJS was higher in UC respect CD, but not significantly (2.9 +/- 2.3 vs 2.1 +/- 1.5; p = ns). Our data confirm the importance of these symptoms in patients with IBD, who need to be carefully investigated also for these aspects.
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PMID:[The prevalence of radiographic sacroiliitis in patients affected by inflammatory bowel disease with inflammatory low back pain]. 1530 19

The joint disorders taxonomically included in the group of seronegative spondyloarthropathies under the generic name of enteropathic arthropathy represent the most frequent extra-intestinal manifestation of inflammatory bowel disease (IBD), affecting 33% of patients. Their frequency is similar to that of ulcerative colitis and Crohn's disease. Enteropathic arthropathy consists of two main joint alterations, peripheral and axial arthritis, as well as a variable group of other peri-articular disorders. Type 1, or pauciarticular, peripheral arthritis generally coincides with IBD exacerbations, while type 2, or polyarticular, peripheral arthritis follows an independent course from IBD. Axial involvement precedes and follows an independent course from IBD and can behave as ankylosing spondylitis or asymptomatic sacroiliitis. The treatment of these rheumatologic disorders is based on the application of general measures and the use of nonsteroidal anti-inflammatory agents; intraarticular corticosteroid administration may eventually become necessary. Sulphasalazine and/or infliximab, which are indicated when the previously mentioned measures fail, can be used to treat both the articular and intestinal diseases simultaneously.
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PMID:[Joint disease in inflammatory bowel disease]. 1639 35

Ochronotic spondyloarthropathy is a rare metabolic disease with the musculoskeletal manifestations of alkaptonuria. Ochronotic arthropathy patients may have spinal abnormalities similar to ankylosing spondylitis (AS). The proof of sacroiliac involvement or bamboo spine appearance is not sufficient either for diagnosis of ankylosing spondilitis or exclusion of ochronosis. In this report, the case of a 54-year-old woman having ochronosis, with clinically more recognizable axial arthropathy resembling AS, is presented, and the history, clinical presentation, diagnostic techniques, and distinctive diagnosis are reviewed.
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PMID:Ochronotic spondyloarthropathy: spinal involvement resembling ankylosing spondylitis. 1626 10

Psoriatic arthritis is a diverse condition that may be characterized by peripheral inflammatory arthritis, axial involvement, dactylitis and enthesitis. Magnetic resonance imaging (MRI) allows visualization of soft tissue, articular and entheseal lesions, and provides a unique picture of the disease process that cannot be gained using other imaging modalities. This review focuses on the literature on MRI in psoriatic arthritis published from 1996 to July 2005. The MRI features discussed include synovitis, tendonitis, dactylitis, bone oedema, bone erosions, soft tissue oedema, spondylitis/sacroiliitis and subclinical arthropathy. Comparisons have been drawn with the more extensive literature describing the MRI features of rheumatoid arthritis and ankylosing spondylitis.
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PMID:Magnetic resonance imaging in psoriatic arthritis: a review of the literature. 1656 57

The spondyloarthropathies constitute a group of inflammatory joint diseases linked by shared characteristics that include a strong common genetic background. Genetic factors include major histocompatibility complex (MHC) genes, among which HLA-B27 contributes 30% of the overall genetic susceptibility to spondyloarthropathies, and non-MHC genes, none of which have been identified to date. Genome screens have identified regions that may contain susceptibility genes for spondyloarthropathies. In particular, a locus on the long arm of chromosome 9 (9q31-34) was identified by two groups working independently from each other. Studies using the candidate gene approach ruled out a role for most of the tested genes, including CARD15/NOD2. However, several independent groups have reported significant associations between ankylosing spondylitis and the IL-1 gene cluster on the long arm of chromosome 2.
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PMID:The genetics of spondyloarthropathies. 1665 Jul 94

Pathologic new bone formation occurs in response to a variety of stimuli. Heterotopic and orthotopic bone formation can interfere with the normal function of the joint and can contribute to disability in inflammatory joint diseases. Syndesmophyte formation and progressive ankylosis are characteristic features of spondyloarthropathies, including psoriatic arthritis and ankylosing spondylitis, and they can be regarded as abnormal bone remodeling. Successful blocking of inflammation in patients with spondyloarthropathy apparently fails to halt progression of ankylosis in cohort studies. This suggests that though they may be linked in some way, bone formation and inflammation are largely independent phenomena. Indeed, new bone formation also occurs in diseases such as osteoarthritis and diffuse idiopathic skeletal hyperostosis. Therefore, therapeutic strategies in spondyloarthropathy ideally should control both inflammation and bone formation.
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PMID:Mechanisms of pathologic new bone formation. 1697 5

The Portuguese Society of Rheumatology (SPR) and the Portuguese Society of Pulmonology (SPP) have developed guidelines for the diagnosis and treatment of latent tuberculosis infection (LTBI) and active tuberculosis (AT) in patients with inflammatory joint diseases (IJD), namely rheumatoid arthritis, psoriatic arthritis and ankylosing spondylitis, treated with tumour necrosis factor alpha (TNF-alpha) antagonists. Due to the high risk of tuberculosis (TB) in patients with IJD, LTBI and AT screening should be performed as soon as possible, ideally at the moment of IJD diagnosis. Even if TB screening was performed at the beginning of the disease, the evaluation should be repeated before starting anti-TNF-alpha therapy. When TB (LTBI orAT) treatment is indicated, it should be performed before the beginning of anti-TNF-alpha therapy. If the IJD activity requires urgent anti-TNF-alpha therapy, these drugs can be started after two months of antituberculosis therapy in AT cases, or after one month in LTBI cases. Chest X-ray is mandatory for all patients. If abnormal, e.g. Gohn complex, the patient should be treated as LTBI; residual lesions require the exclusion of AT and patients with history of untreated or incomplete TB treatment should be treated as LTBI. In cases of suspected active lesions, AT diagnosis should be confirmed and adequate therapy initiated. Tuberculin skin test (TST), with two units of RT23, should be performed in all patients. If induration is less than 5 mm, the test should be repeated after 1 to 2 weeks, on the opposite forearm, and should be considered negative if the result is again inferior to 5 mm. Positive TST implicates LTBI treatment. IfTST is performed in immunosupressed IJD patients, LTBI treatment should be offered to the patient before starting anti-TNFalpha therapy, even in the presence of a negative test.
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PMID:[Recommendations for the diagnosis and treatment of latent and active tuberculosis in patients with inflammatory joint diseases treated with tumour necrosis factor alpha inhibitors]. 1709 35

The Portuguese Society of Rheumatology (SPR) and the Portuguese Society of Pulmonology (SPP) have developed guidelines for the diagnosis and treatment of latent tuberculosis infection (LTBI) and active tuberculosis (AT) in patients with inflammatory joint diseases (IJD), namely rheumatoid arthritis, psoriatic arthritis and ankylosing spondylitis, treated with tumour necrosis factor alpha (TNF-a) antagonists. Due to the high risk of tuberculosis (TB) in patients with IJD, LTBI and AT screening should be performed as soon as possible, ideally at the moment of IJD diagnosis. Even if TB screening was performed at the beginning of the disease, the evaluation should be repeated before starting anti-TNF-a therapy. When TB (LTBI or AT) treatment is indicated, it should be performed before the beginning of anti-TNF-a therapy. If the IJD activity requires urgent anti-TNF-a therapy, these drugs can be started after two months of antituberculosis therapy in AT cases, or after one month in LTBI cases. Chest X-ray is mandatory for all patients. If abnormal, e.g. Gohn complex, the patient should be treated as LTBI; residual lesions require the exclusion of AT and patients with history of untreated or incomplete TB treatment should be treated as LTBI. In cases of suspected active lesions, AT diagnosis should be confirmed and adequate therapy initiated. Tuberculin skin test (TST), with two units of RT23, should be performed in all patients. If induration is less than 5 mm, the test should be repeated after 1 to 2 weeks, on the opposite forearm, and should be considered negative if the result is again inferior to 5 mm. Positive TST implicates LTBI treatment. If TST is performed in immunosuppressed IJD patients, LTBI treatment should be offered to the patient before starting anti-TNF-a therapy, even in the presence of a negative test.
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PMID:[Guidelines for the diagnosis and treatment of latent tuberculosis infection and active tuberculosis in patients with inflammatory joint diseases proposed for treatment with tumour necrosis factor alpha antagonist drugs]. 1711 28

Juvenile psoriatic arthritis (JPsA) is characterized by asymmetric arthritis of big and small joints, enthesitis, dactylitis, psoriatic skin lesions and nail pitting. Investigators agree that JPsA is a relatively common chronic arthropathy of childhood that differs clinically, serologically, and genetically from both juvenile idiopathic arthritis and juvenile ankylosing spondylitis. Familial Mediterranean fever (FMF) is a multisystemic autosomal recessive disease occasionally accompanied by sacroiliitis. This is characterized by recurrent self-limited attacks of fever and accompanying abdominal, chest and arthricular pain. We present a 14-year-old Turkish girl with JPsA and carrying FMF gene mutations. In this patient, JPsA was diagnosed according to her physical, laboratory and skin biopsy findings and a treatment with methotrexate and sulfasalazine was started. As an inadequate clinical and laboratory response was obtained after the first month of therapy, the patient was investigated for FMF, and was diagnosed by molecular analyses of related gene (E148Q heterozygous/V726A homozygous mutation) besides clinical findings. After 2 weeks of the colchicine treatment, symptoms of the patient regressed and acute phase reactants decreased. To our knowledge, this is the first case presenting with psoriatic arthritis and FMF gene mutations together and responds to colchicine, methotrexate and sulfasalazine dramatically in clinical and laboratory findings. This case has been presented to remind that cases with psoriatic arthritis may also carry mutations in the MEFV gene.
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PMID:Juvenile psoriatic arthritis carrying familial Mediterranean fever gene mutations in a 14-year-old Turkish girl. 1740 46


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