Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The SAPHO syndrome is characterized by synovitis, acne, palmo-plantar pustulosis, hyperostosis and osteitis. SAPHO syndrome has been occasionally described in Spain. We present our experience of 16 cases with the SAPHO syndrome diagnosed between 1984-1995. The predominant clinical symptoms were: anterior thoracic pain (14 cases), sacroiliac pain (7 cases) and peripheral arthritis (2 cases). Cutaneous involvement was characterized by palmo-plantar pustulosis (8 cases) acne (3 cases) and psoriasis (2 cases). The histocompatibility antigen B27 was negative in all cases. A computerized tomographic study revealed involvement of sterno-costo-clavicular and manubriosternal joints (14 cases) and sacroiliitis (8 cases).
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PMID:[The SAPHO syndrome: a study of 16 cases]. 1060 90

HLA-B27 is highly linked with a group of human diseases called spondyloarthropathies (SpA). Many of these disorders begin after an infection with an enterobacteria. The symptoms seen in patients with spondyloarthropathies are inflammatory pain in the spine and asymmetrical arthritis of lower limbs. Additional symptoms related to SpA include inflammation in the eyes, bowel, and skin. The autoantigen(s) in SpA are not known. Proteins such as collagen and proteoglycans have been thought to be potent autoantigens in arthritidis including B27-associated human diseases. Type II collagen is a common denominator among eyes and joints, affected tissues in B27-linked diseases. Moreover, a few reports indicated CII specific T cells and antibodies in patients with spondyloarthropathies. We and others have previously described development of spontaneous arthritis and nail disease in HLA-B27 transgenic animals. To determine whether CII may be a target antigen in the B27-linked diseases, B27 + m beta 2 m% (HLA-B27) transgenic mice lacking mouse beta 2m with and without human beta 2m) mice were immunized with type II collagen inside the barrier facility. Male HLA-B27 transgenic mice developed collagen-induced arthritis compared to transgene negative littermates or female counterparts. There was no difference in the incidence of arthritis in HLA-B27 transgenic mice with and without human beta 2m. Our data suggest that beta 2m free heavy chain of HLA-B27 may present soluble antigens such as type II collagen to trigger specific T cells contributing in the development of arthritis. Our data also suggest that CII may be a potential target antigen in the cartilage during the disease process.
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PMID:HLA-B27 transgenic mice are susceptible to collagen-induced arthritis: type II collagen as a potential target in human disease. 1071 6

We report on a 46-year-old man with a 4-year history of predominantly nocturnal pain at the thoracic and lumbar spine as well as accompanying morning stiffness and episodes of alternating buttock pain. At physical examination the patient presented with the typical traits for Marfan's syndrome (MFS), along with limitation of both chest expansion and movement in all planes of the lumbar spine. Pelvic and lumbar spine radiographs showed findings consistent with ankylosing spondylitis (AS). Laboratory tests were consistent with an inflammatory state and HLA typing was positive for the B27 antigen. Transthoracic echocardiography showed prolapse of the posterior mitral leaflet and mild aortic insufficiency. We diagnosed co-existent MFS and AS. The association of these two pathologies is particularly interesting, owing to the co-existence of hypermobility of peripheral joints due to MFS ligamentous hyperlaxity, and the reduction of both axial skeleton motility and chest expansion related to AS. As both of these diseases may damage the cardiovascular system over time, follow-up with echocardiography monitoring is indispensable.
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PMID:Coexistent Marfan's syndrome and ankylosing spondylitis: a case report. 1134 28

Undifferentiated spondylarthropathy is one of the common disease subsets in the group of so-called seronegative spondarthritides. It is not exactly known how often it differentiates into ankylosing spondylitis or other well-defined disease subsets over time. The present study was designed to find out the long-term outcome in this subset. Thirty-five patients diagnosed with undifferentiated spondylarthropathy between January 1987 and December 1988 were recruited. Twenty-two (63%) of them were available for detailed assessment 11 years after the original diagnosis. Their baseline characteristics did not differ from those of the original cohort of 35 patients and were as follows: male:female ratio 19:3, median age of onset 17 years (range 8-39), and median duration of disease 8 months (range 4-24). Clinical features were enthesitis (45%) and inflammatory pain in the back (100%), buttock (77%), hip (64%), shoulder (18%), knee (82%), ankle (77%), and hand and wrists (50%). There was no restriction in spinal movement. Family history was positive in two cases. Radiologically, the only finding was grade I sacroiliitis in 17 patients (77%). Human leukocyte antigen (HLA)-B27 was positive in all. Functionally, all were in class I. During follow-up, one patient developed psoriatic skin lesions after 9 years. Uveitis developed in four patients (18%). After a median follow-up of 11 years, 15 (68%) had ankylosing spondylitis, one developed psoriatic arthritis, four remained undifferentiated, and two had natural remission. Functionally, 19 patients (86%) were in class I and three (14%) were in class III. No patient had bamboo spine, but three underwent total hip replacement. Thus, a majority of patients (68%) with undifferentiated spondylarthropathy gradually developed ankylosing spondylitis of mild severity.
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PMID:Long-term outcome of undifferentiated spondylarthropathy. 1156 79

Juvenile onset spondyloarthropathy (SpA) is a term that refers to a group of human leucocyte antigen (HLA)-B27 associated inflammatory disorders affecting children under the age of 16 years, producing a continuum of clinical symptoms through adulthood. This disease is characterised by enthesopathy and arthropathy affecting the joints of the lower extremities and seronegativity for IgM rheumatoid factor and antinuclear antibodies. Children usually present with undifferentiated SpA and progress to differentiated forms over time. Except for the prevalence of some clinical features at onset, the pathogenic and clinical aspects of juvenile onset SpAs resemble those of the adult disease. Thus application of the same or similar therapeutic measures for both juvenile and adult onset SpAs seems logical. Current treatments for juvenile onset SpA provide symptomatic improvement, but do not alter disease progression. The increased expression of tumour necrosis factor alpha (TNFalpha) in synovial tissue of patients with adult and juvenile onset SpA and its correlation with infiltration of inflammatory mediators into the synovia suggest a significant pathogenic role of this cytokine. Clinical trials of anti-TNFalpha antibody (infliximab) therapy in patients with adult onset SpA have demonstrated significant clinical improvement in inflammatory pain, function, disease activity, and quality of life in correlation with histological and immunohistochemical evidence of modulation of synovial inflammatory processes. These promising findings suggest that anti-TNFalpha therapy may confer similar benefits in patients with juvenile onset SpA.
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PMID:Juvenile onset spondyloarthropathies: therapeutic aspects. 1238 9

Enthesitis is a distinctive pathological feature of spondyloarthritis and may involve synovial joints, cartilaginous joints, syndesmoses and extra-articular entheses. This review focuses on peripheral extra-articular enthesitis, which is a clinical hallmark of spondyloarthritis. The entheses of the lower limbs are more frequently involved than those of the upper limbs, and heel enthesitis is the most frequent. Entheseal pain may be mild or moderate as well as severe and disabling. Peripheral enthesitis may be observed in all forms of spondyloarthritis, including the undifferentiated forms, and may, for a prolonged period, be the only longstanding clinical manifestation of the B27-associated disease process. The conceptual understanding of spondyloarthritis and the ability to image sites of skeletal inflammation accurately, i.e. ultrasound and magnetic resonance imaging, confirm that enthesitis is the primary lesion of spondyloarthritis. This advance has been occurring simultaneously with the therapeutic advances in spondyloarthritis due to the introduction of anti-tumour necrosis factor-alpha agents.
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PMID:Enthesitis. 1677 77

Primary care physicians should have a working knowledge of rheumatic diseases of childhood that manifest primarily as musculoskeletal pain. Children with juvenile rheumatoid arthritis can present with painless joint inflammation and may have normal results on rheumatologic tests. Significant morbidity may result from associated painless uveitis, and children with juvenile rheumatoid arthritis should be screened by an ophthalmologist. The spondyloarthropathies (including juvenile ankylosing spondylitis and reactive arthritis) often cause enthesitis, and patients typically have positive results on a human leukocyte antigen B27 test and negative results on an antinuclear antibody test. Patients with acute rheumatic fever present with migratory arthritis two to three weeks after having untreated group A beta-hemolytic streptococcal pharyngitis. Henoch-Schbnlein purpura may manifest as arthritis before the classic purpuric rash appears. Systemic lupus erythematosus is rare in childhood but may cause significant morbidity and mortality if not treated early. Nonsteroidal anti-inflammatory drugs and physical therapy may be useful early interventions if a rheumatic illness is suspected. Family physicians should refer children when the diagnosis is in question or subspecialty treatment is required. Part I of this series discusses an approach to diagnosis with judicious use of laboratory and radiologic testing.
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PMID:Chronic musculoskeletal pain in children: part II. Rheumatic causes. 1688 27

A case of juvenile psoriatic arthritis in a 12 year-old boy was reported. The patient had a history of one and half a year of bilateral heel pain, followed by pain in the right knee and ankle and right hip joint. He developed psoriatic lesions affecting his nails and skin. He had increased erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) contents. Human leukocyte antigen (HLA) B27 was detected but serum rheumatoid factor was not in the patient. A skin biopsy revealed psoriasis and ultrasonography demonstrated synovitis in right knee and ankle. Juvenile psoriatic arthritis was diagnosed based on his physical, laboratory and skin biopsy findings. A treatment with nonsteroidal anti-inflammatory drugs and sulfasalazine produced no effect. Leflunomide in conjunction with anti-TNF biologic agents (Etanercept) was administered, followed by symptomatic improvement 2 weeks later.
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PMID:[Juvenile psoriatic arthritis]. 1770 35

This is a cross-sectional study that analyzed the pattern and frequency of articular and ophthalmologic manifestations in patients with Crohn's disease (CD) and ulcerative colitis (UC), with or without signs of active bowel inflammation. One hundred and thirty consecutive patients with CD (n = 71) and UC (n = 59) were examined. Simple X-rays of lumbar spine, sacroiliac joints, and calcaneal bone were performed and human leukocyte antigen (HLA)-B27 was typed. Joint manifestations occurred in 41 (31.5%) patients, 27 (38%) with CD and 14 (23.7%) with UC. Peripheral involvement occurred in 22 patients, axial involvement in five, and mixed involvement in 14. The most frequently involved joints were knees (56.1%), ankles (29.3%), and hips (29.3%), while the predominant pattern was oligoarticular (84.6%) and asymmetrical (65.6%). Enthesitis was identified in seven (5.4%) patients and inflammatory lumbar pain in 13 (10%). Eight of these patients fulfilled the diagnostic criteria for ankylosing spondylitis (6.2%). Radiographic sacroiliitis occurred in 12 patients (9.2%). Ocular abnormalities were present in six patients (6.2%), and HLA-B27 was positive in five (5.8%). In conclusion, the articular manifestations in the present study were predominantly oligoarticular and asymmetric, with a low frequency of ophthalmologic involvement and positive HLA-B27.
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PMID:A cross-sectional study of 130 Brazilian patients with Crohn's disease and ulcerative colitis: analysis of articular and ophthalmologic manifestations. 1809 11

The sternocostoclavicular (SCC) region is subject to the same diseases that occur in joints, with congenital and developmental anomalies, inflammatory and infectious diseases, soft tissue and bone tumors as well as the seronegative spondyloarthropathies, including ankylosing spondylitis, reactive arthritis, enteropathic arthritis, psoriatic arthritis, pustulosis palmoplantaris and other syndromes. Most of these conditions present with swelling of the joint, which may be associated with pain and/or tenderness. These disorders are characterised by onset usually before the age of 40 years, absence of serum autoantibodies and sometimes the association with antigen human leukocyte antigen B27. Traditional X-ray study is indicated in the initial evaluation of SCC joint disorders, but other imaging modalities typically are often necessary to clarify the pathology. Computed axial tomography scans are indicated for disease processes in which bony destruction or ossification may occur. Magnetic resonance imaging provides more detailed and useful information when evaluating suspected pathology involving inflammation or soft tissue mass. Bone scintigraphy can help to correlate active inflammation of the SCC joint with symptoms of pain. The purpose of this study is to introduce the clinical and radiological aspects of the seronegative anterior chest wall diseases, particularly the contribution of the different imaging techniques.
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PMID:Imaging of the seronegative anterior chest wall (ACW) syndromes. 1850 Apr 40


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