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)

We report a 50-year-old male patient with hereditary multiple exostoses (HME) and ankylosing spondylitis (AS). This is the first case reporting the coexistence of HME and AS. Our patient has multiple exostoses around the knee, elbow and wrist joints. At the age of 40 years, pain in the lower back associated with morning stiffness lasting about an hour and improving with exercise began. His son also has hereditary multiple exostoses but has no sign of AS. HME is an autosomal dominant disorder. AS has a remarkably strong association with the histocompatibility antigen HLA-B27. Owing to the different genetic mechanisms, it is not possible to differentiate between coincidence and association. Coexistence of HME and AS in our patient probably represents a coincidence rather than a real association.
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PMID:Coexistence of hereditary multiple exostoses and ankylosing spondylitis. 1063 74

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 describe a clinical case of juvenile ankylosing spondylitis (AS) that developed "pseudo-chronic tendinitis" of the foot. A 20-year-old male patient had HLA-B27 positive juvenile AS since he was 13 years old. At the age of 19 he presented chronic pain in the dorsum of the left foot. Examination disclosed an increased volume of the tarsal dorsum, with rubbery consistency, with no evidence of venous or lymphatic insufficiency, godette, or inflammation in laboratory tests, giving the foot the appearance of a tamale. Synovectomy of the foot extensor tendon sheath was followed by relief of pain and swelling. Histopathological study showed a deposit of acid mucopolysaccharides (MPS) with no inflammatory cell infiltrate. Tamale foot in juvenile AS may develop as a consequence of acid MPS deposit with no evidence of synovial inflammation. The good response to synovectomy suggests this is the preferred treatment for tamale foot.
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PMID:Tamale foot: deposit of acid mucopolysaccharides in the synovial sheaths of extensor tendons of the foot, resembling tendinitis, in a patient with juvenile ankylosing spondylitis. 1091 70

The aim of the study was to analyse the 2-year follow-up of a series of patients with the diagnosis of undifferentiated spondyloarthropathy (uSpA). A prospective study was carried out analysing 68 patients with symptomatic uSpA who fulfilled the European Spondylarthropathy Study Group (ESSG) criteria for seronegative spondyloarthropathies (SpA) and were aged between 18 and 50 years. Inclusion criteria included inflammatory low back pain (ILBP) (without radiographic sacroiliitis), asymmetric oligoarthritis (predominantly affecting large joints in the lower limbs) and heel enthesopathies (Achilles tendinitis and/or plantar fasciitis). Imaging methods included pelvic radiography (at study entry and after 2 years) and calcaneal radiography (at study entry). There was a predominance of male gender (78%), caucasoid race (72%) and positive HLA-B27 (54%), with a mean age of 31 years and mean disease duration of 5 years. The first disease manifestations were ILBP (49%), asymmetric oligoarthritis (35%) and heel enthesopathies (16%). A positive family history of a definite SpA was mentioned by 9% of the patients. Seventeen patients (25%) scored 5 points in the Amor set of SpA criteria; logistic regression analysis showed that HLA-B27, heel enthesopathy and asymmetric oligoarthritis were significantly associated with Amor criteria > or = 6, whereas ILBP was associated with Amor criteria <6. Male sex was associated with heel enthesopathies (p = 0.041) and ankle involvement (p = 0.015). Caucasoid race was associated with ILBP (p=0.015) and buttock pain (p = 0.047). Positive HLA-B27 was associated with wrist involvement (p=0.019) and Amor criteria > or = 6 (p=0.001). After a 2-year follow-up the following outcomes were observed: uSpA 75%; disease remission 13%; ankylosing spondylitis 10%; psoriatic arthritis 2%. Logistic regression analysis showed that buttock pain and positive HLA-B27 (trend) were statistically associated with progression to a definite SpA. In conclusion, uSpA can represent a provisional diagnosis in the group of SpA and a systematic follow-up is necessary in order to better establish the different patterns of the disease.
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PMID:Undifferentiated spondyloarthropathies: a 2-year follow-up study. 1143 74

The aim of this study was to analyse retrospectively the prevalence and the clinical features of clinically asymptomatic axial involvement in patients with psoriasis and axial radiological features of spondyloarthropathy (PsSpA). We performed a cross-sectional study based on the clinical records of 70 patients, 44 men and 26 women, with a mean age of 48.7+/-14.2 years. PsSpA was defined by the presence of radiographic sacroiliitis (SI) greater than or equal to grade 2, and/or any other typical radiological sign of spondylitis in patients with psoriasis. When the radiological signs were present in the absence of inflammatory back pain and/or buttock pain, patients were grouped as having asymptomatic axial disease. HLA-B27 was determined by serological methods in the 70 patients and in 82 healthy controls from our general population. Fourteen patients (20%), 11 with radiological SI, two with facet joint erosion-fusion and one with aseptic discitis, showed no evidence of symptomatic spinal disease. Twenty-nine patients (41%) showed cervical spine disease (CSD), but only 17 of them (58.6%) had pain and rigidity at this level, whereas 12 (41.4%) did not show clinical symptoms. CSD was associated with duration of arthritis (P = 0.043) and peripheral erosions (P = 0.037). HLA-B27 correlated well with bilateral SI (P = 0.002) and PsSpA (P<0.0004, RR 6.4), but showed no association with unilateral SI nor with syndesmophytes or asymptomatic disease. Univariate analysis demonstrated associations between symptomatic disease and longer duration of arthritis (P = 0.041) and higher IgM values (P = 0.05). There is a high prevalence of asymptomatic involvement in patients with PsSpA The significance of these asymptomatic changes is not known, but they probably represent a common characteristic of spondyloarthropathies rather than a specific feature associated with psoriasis.
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PMID:Clinically asymptomatic axial disease in psoriatic spondyloarthropathy. A retrospective study. 2246 47

We report the case of a 48-year-old male, whose musculoskeletal manifestations, previously related to long-term renal replacement therapy (RRT), were diagnosed as ankylosing spondylitis when symptoms changed their pattern on daily hemodialysis (DHD). The patient started RRT in 1981; in 1985 he received a cadaver graft, which failed in 1987. Secondary hyperparathyroidism, amyloid geoids, bilateral carpal tunnel syndrome and high aluminium levels were present. Musculoskeletal pain, reported since 1986, involved feet, heels, hips, shoulders, hands, spine. Symptoms impairing daily life did not improve after parathyroidectomy. He developed chronic hypotension and recurrent atrial fibrillation. In 1994 and 1998, because of thoracic pain, coronarography was performed (normal on both occasions). In June 2000, DHD was started. Equivalent renal clearance increased from 9-12 to 15-17 mL/min. Well-being remarkably improved. In September 2000, musculoskeletal pain worsened and bilateral Achilles tendinitis occurred. The worsening of musculoskeletal symptoms despite the improvements in well-being and other dialysis related symptoms prompted a re-evaluation of the case. The diagnosis of ankylosing spondylitis was based on: history of plantar fasciitis, bilateral Achilles tendinitis, inflammatory spinal pain with limitation of lumbar spine mobility (positive Schober test), radiological evidence of grade 2 bilateral sacroiliitis, presence of HLA-B27. This diagnosis cast light on the episodes of chest pain, explained by enthesopathy at the costosternal and manubriosternal joints and atrial fibrillation, due to HLA-B27 associated impairment in heart conduction. This case exemplifies the difficulty of differential diagnosis of multisystem illness in patients with long RRT follow-up.
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PMID:Ankylosing spondylitis: a difficult diagnosis in patients on long-term renal replacement therapy. 1201 35

Two patients with Reiter's syndrome, after Salmonella infection were treated on the Infections disease ward at Clinical hospital center in Kragujevac. In the first patient, ten days after the onset of Salmonella infection, signs of edema and pain in the right ankle occurred, accompanied by expressed conjunctivitis. Within next two months consecutive metatarsophalanges changes joint of the right foot have appeared. In the second patient, two weeks after the onset of Salmonella infection, edema of the left hand joints and a week later edema of the right hand and right ankle joints appeared. In both patients inflammatory syndrome was expressed (high erythrocyte sedimentation rates, fibrinogen, C-reactive protein) along with negative rheumatoid factors and positive antigen HLA-B27. Outcome of the disease in both cases was favourable upon receiving nonsteroid antirheumatic therapy. Signs of arthritis disappeared after three months. No signs of recurrent arthritis have been seen during the next four years in the first and next two years in the second patient.
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PMID:[Reiter's syndrome after Salmonella infection]. 1530 13

The objectives of this study were to describe and compare the clinical characteristics of ankylosing spondylitis (AS) and undifferentiated spondyloarthritis (USpA) in Middle East Arab (MEA) and South Asian (SA) patients diagnosed in our unit. Fifty-eight consecutive patients diagnosed with SpA were studied after classifying them into MEA and SA. They were further classified as per disease diagnosis. Excluding three patients with miscellaneous ethnicity, there were 29 MEA and 26 SA patients. Seventy-two percent of MEA patients were males (vs 92% of SA patients). Of the 29 patients with MEA ethnicity, 17 had AS and 9 had USpA. Of the 26 patients with SA ethnicity, 10 had AS and 14 had USpA. Fifty-nine percent of MEA patients had AS (vs 39% of SA patients). Mean age at onset in AS patients was similar in the two ethnic groups. However, in patients with USpA, mean age at onset was somewhat lower at 21.8 years in the MEA group compared with 29.4 years in the SA group. Family history in first-degree relatives was significantly more common in MEA patients. Weight loss, inflammatory spinal pain, gluteal pain, and enthesopathy were equally common in both ethnic groups. Knee, ankle, and metatarsophalangeal joint involvement was less common in MEA patients. There were no significant differences in the occurrence of syndesmophytes, bamboo spine, and sacroiliitis in the two ethnic groups. HLA-B27 positivity rates in MEA patients were 87% for AS and 67% for USpA compared to 75 and 71%, respectively, in SA patients. It is concluded that some significant new findings have arisen from this study: the majority of MEA patients presented with AS, whereas the majority of SA patients had a picture of USpA. Family history was more common in MEA patients. Peripheral arthritis was less common in MEA patients. Worldwide, this is the first study to show that there are significant differences in the clinical expression of the various SpA in MEA patients compared to SA patients.
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PMID:Ankylosing spondylitis and undifferentiated spondyloarthritis in Kuwait: a comparison between Arabs and South Asians. 1624 74

To study the inter-reader reliability of detecting abnormalities of sacroiliac (SI) joints in patients with recent-onset inflammatory back pain by magnetic resonance imaging (MRI), and to study the prevalence of inflammation and structural changes at various sites of the SI joints. Sixty-eight patients with inflammatory back pain (at least four of the five following criteria: symptom onset before age 40, insidious onset, morning stiffness, duration >3 months, improvement with exercise--or three out of five of these plus night pain) were included (38% male; mean age, 34.9 years [standard deviation 10.3]; 46% HLA-B27-positive; mean symptom duration, 18 months), with symptom duration <2 years. A MRI scan of the SI joints was made in the coronal plane with the following sequences: T1-weighted spin echo, short-tau inversion recovery, T2-weighted fast-spin echo with fat saturation, and T1-spin echo with fat saturation after the administration of gadolinium. Both SI joints were scored for inflammation (separately for subchondral bone and bone marrow, joint space, joint capsule, ligaments) as well as for structural changes (erosions, sclerosis, ankylosis), by two observers independently. Agreement between the two readers was analysed by concordance and discordance rates and by kappa statistics. Inflammation was present in 32 SI joints of 22 patients, most frequently located in bone marrow and/or subchondral bone (29 joints in 21 patients). Readers agreed on the presence of inflammation in 85% of the cases in the right SI joint and in 78% of the cases in the left SI joint. Structural changes on MRI were present in 11 patients. Ten of these 11 patients also showed signs of inflammation. Agreement on the presence or absence of inflammation and structural changes of SI joints by MRI was acceptable, and was sufficiently high to be useful in ascertaining inflammatory and structural changes due to sacroiliitis. About one-third of patients with recent-onset inflammatory back pain show inflammation, and about one-sixth show structural changes in at least one SI joint.
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PMID:Magnetic resonance imaging changes of sacroiliac joints in patients with recent-onset inflammatory back pain: inter-reader reliability and prevalence of abnormalities. 1635 97

Ankylosing spondylitis (AS) is strongly associated with the major histocompatibility complex (MHC) class I antigen HLA-B27. This may have influence on the physiologic immune response. Whether it leads to an increased prevalence of infections and/or allergy in AS patients is unclear. This study aims to determine the prevalence of infections and allergic symptoms in patients with AS and to detect a possible association with clinical symptoms. Data on 1,080 AS patients and on 102 disc prolapse patients were collected by questionnaire. The proportion of patients with a symptomatic infection in the last year was 65.5% in AS patients in comparison with 25.5% in disc prolapse patients (p=0.0001). AS patients reported more gastrointestinal (GI) [odds ratio (OR) 5.07, 95% confidence interval (CI) 2.20-11.71], urinary tract (OR 2.81, 95%CI 1.41-5.72), and respiratory (OR 5.83, 95%CI 3.38-10.08) infections than did disc prolapse patients. Multiple infections were more common in AS patients across all infection types. Allergic symptoms were reported by AS patients more frequently than by disc prolapse patients (OR 5.13, 95%CI 3.49-8.80). Patients reporting concurrent inflammatory bowel disease were more likely to report GI (OR 3.0, 95%CI 1.9-4.8) and urinary tract (OR 1.7, 95%CI 1-2.8) infection than primary AS patients. In AS patients, infection was independently associated with female gender (OR 1.96, 95%CI 1.47-2.56), a history of significant peripheral joint inflammation (OR 1.55, 95%CI 1.18-2.05), and increasing pain duration (p=0.05). A high prevalence of common infections and allergic symptoms is seen in patients with AS, most of which are HLA-B27-positive. This may have implications both for underlying mechanisms of disease and for therapeutic options.
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PMID:The high prevalence of infections and allergic symptoms in patients with ankylosing spondylitis is associated with clinical symptoms. 1637 75


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