27 research outputs found

    The role of CD247 polymorphisms in Bulgarian patients with systemic lupus erythematosus

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    Decreased expression of the TCR ζ-chain has been reportedin several autoimmune and inflammatory diseases. Recent evidence suggeststhat this deficiency may be due to polymorphisms in the CD247gene. A total 52 patients with systemic lupus erythematosus (SLE) and95 healthy controls of Bulgarian ethnicity were genotyped for 837C&gt;G,rs1052230, 844A&gt;T, and rs1052231 using a TaqMan genotyping assay.None of the two polymorphisms appeared associated with the diseases.On the other hand, we have found that the -837GG genotype and the Gallele were associated with hematological disease. The -844AA genotypeand the A allele appeared associated with the hematological disease aswell. The -843AA genotype and the A allele were found to be associatedwith antinuclear antibody (ANA) tests and immunological disease. Anassociation was found between the -837G allele and arthritis. The AGhaplotype was found to be associated with hematological disease, ANA,and immunological disease. Our preliminary data confirm the previousfindings that the CD247 polymorphisms are mainly associated with theclinical outcome of the disease and less with susceptibility.</p

    IL-1RN VNTR Polymorphism in Adult Dermatomyositis and Systemic Lupus Erythematosus

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    Polymorphisms in the cytokine genes and their natural antagonists are thought to influence the predisposition to dermatomyositis (DM) and systemic lupus erythematosus (SLE). A variable number tandem repeat (VNTR) polymorphism of 86 bp in intron 2 of the interleukin-1 receptor antagonist (IL-1RN) gene leads to the existence of five different alleles which cause differences in the production of both IL-1RA (interleukin-1 receptor antagonist) and IL-1 . The aim of this case-control study was to investigate the association between the IL-1RN VNTR polymorphism and the susceptibility to DM and SLE in Bulgarian patients. Altogether 91 patients, 55 with SLE and 36 with DM, as well as 112 unrelated healthy controls, were included in this study. Only three alleles were identified in both patients and controls ((1) four repeats, (2) two repeats, and (3) five repeats). The IL-1RN * 2 allele ( = 0.02, OR 2.5, and 95% CI 1.2-5.4) and the 1/2+2/2 genotypes were found prevalent among the SLE patients ( = 0.05, OR 2.6, and 95% CI 1-6.3). No association was found between this polymorphism and the ACR criteria for SLE as well as with the susceptibility to DM. Our results indicate that the IL-1RN VNTR polymorphism might play a role in the susceptibility of SLE but not DM

    Inflammatory Myopathies with Cutaneous Involvement: from Diagnosis to Therapy

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    The group of idiopathic inflammatory myopathies (IIM) include various disorders of skeletal muscles with or without skin involvement. The most common types are dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and necrotizing autoimmune myopathy (NAM). Dermatomyositis subdivides into various clinical forms such as juvenile, amyopathic or paraneoplastic dermatomyositis, scleromyositis, overlap or anti-synthetase syndromes, etc

    Correlation of Disease Activity and Quality of Life of Patients with Psoriasis after Narrow-band Ultraviolet B Therapy

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    Introduction: Treatment with ultraviolet light is a well-established and effective treatment option for mild to moderate psoriasis. The aims of the study were to measure the psoriasis area and severity index (PASI) reduction after narrow-band ultraviolet B (NB UVB) therapy, to evaluate the quality of life before and after treatment using the dermatology life quality index (DLQI), and to compare the clinical effectiveness with quality of life improvement. Material and methods: Twenty two patients (13 male and 9 female patients), aged between 21 to 70 years (mean age 40±14.65 years) were enrolled in the study. NB UVB treatment was performed with 10 to 25 (mean 18.5; SD 3.39) procedures with cumulative doses of 5 to 19.4 J/cm2. The baseline median PASI score was 20.027 which decreased after therapy to 11.11. More than PASI 50% reduction was achieved in 40.91% of the patients after at least 6 weeks of treatment and the results are highly statistically significant. Quality of life (QoL) assessed using DLQI was found moderately affected by disease pretreatment. NB UVB therapy significantly increased DLQI score in spectrum of ‘symptoms and feelings’ and ‘treatment’. Discussion: The PASI score reduction that we observed after NB-UVB therapy is consistent with the results reported by other authors. Baseline DLQI scores were indicative of moderate QoL impairments associated with disease. At the same time, the reduction of the DLQI index corresponding to improved QoL correlated with the objective clinical symptom assessment.  Conclusion: Our data suggest that DLQI and PASI indexes are important complementary methods for comprehensive health assessment of patients with psoriasis.
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