TNF-alpha -308 promoter polymorphism in patients with rheumatoid arthritis.

OBJECTIVES: Rheumatoid arthritis (RA) is a chronic inflammatory disease in which tumour necrosis factor-alpha (TNF-alpha) plays an important role. There are, however, controversial reports that TNF-alpha promoter polymorphism may be an independent marker of susceptibility and severity of RA. The aim of the present study was to examine the TNF-alpha -308 promoter polymorphism in patients with RA. METHODS: We examined 91 patients with RA diagnosed according to the criteria of the American College of Rheumatology. Polymerase chain reaction (PCR) amplification was used for analysis of the polymorphism at position -308 in promoter of TNF-alpha gene. RESULTS: Distribution of TNF-alpha genotypes in RA patients did not differ from that in control subjects. Moreover, there was no association between TNF-alpha genotypes and age at disease diagnosis, disease activity in global physician's assessment, and joint and extra-articular involvement. There was also no correlation between TNF-alpha polymorphism and disease activity measures, including erythrocyte sedimentation rate (ESR), CRP, number of swollen and tender joints, and morning stiffness duration. CONCLUSIONS: We suggest that TNF-alpha -308 promoter polymorphism is not a genetic risk factor for RA susceptibility and severity.

The influence of N-acetyltransferase 2 polymorphism on rheumatoid arthritis activity.

OBJECTIVE: The N-acetyltransferase polymorphism is involved in the metabolism of many xenobiotics, as well as in susceptibility to some diseases such as rheumatoid arthritis (RA). The aim of this study was to investigate the influence of NAT 2 polymorphism on disease activity in RA patients. METHODS: 70 with RA were enrolled in the study. As a measure of disease activity, the number of swollen and tender joints, the duration of morning stiffness, ESR and CRP as well as disease activity based on a global physician's assessment were evaluated. The NAT2 polymorphism was determined by a polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP). RESULTS: The mean number of swollen and tender joints, as well as the ESR and CRP values, did not differ significantly with the acetylation genotype. Erosive RA was diagnosed in 74.5% of the slow and 40% of the fast acetylators. The risk for the development of erosive RA was 4.39 time greater in slow acetylators than in fast acetylators. CONCLUSION: NAT2 polymorphism may be a genetic risk factor for joint destruction.

FC gamma RIIa polymorphism in patients with rheumatoid arthritis.

OBJECTIVE: Polymorphism of phagocyte IgG receptor Fc gamma RIIa may modulate immune complex mediated inflammation, particularly when immune complex contain IgG2. METHODS: Fc gamma RIIa genotyping in 82 patients with rheumatoid arthritis (RA) and 148 healthy subjects was performed using the polymerase chain reaction technique with allele specific primers. RESULTS: No significant relation between Fc gamma RIIa genotypes and susceptibility to RA was observed, but extraarticular complications with high frequency were revealed in patients with R/R131 genotype. CONCLUSION: The results suggest that the Fc gamma RIIa polymorphism is not a risk factor for RA.

[Neurological deficits in patients with primary and secondary anticardiolipin syndrome]. / Powiklania neurologiczne u chorych z pierwotnym i wtórnym zespolem antyfosfolipidowym.

27 patients (22 women, 5 men); age 17 to 56 yr. (mean age 37 yr.) were included in this study, 4 had primary antiphospholipid syndrome and 18 secondary antiphospholipid syndrome in the course of systemic connective tissue disease and in 5 cases increased levels of anticardiolipid antibodies were found which did not meet the criteria necessary for diagnosis of secondary antiphospholipid syndrome. The mean duration of the disease was 8 yrs. Among primary antiphospholipid syndrome patients two had ischaemic stroke, one migraine-like headache and seizures. 18 patients had lupus erythematosus, two mixed connective tissue disease, one rheumatoid arthritis, one Sjögren syndrome, one Behçet disease. In 55% of patients migraine-like headache, polyneuropathies, encephalophaties, stroke, seizures and vision disturbances were present. In 18.5% of patients EEG exam revealed focal lesions with tendency for generalisation. On brain stem auditory evoked potentials examination, in 11.1% of patients conductivity lesions in mesencephalon and pons were found, visual evoked potentials, in 11.1% of patients in visual tracts. In 37% of patients, neuropathy was found on EMG exam. Neurological symptoms are one of the most frequent disorders in systemic connective tissue disease associated with the presence of anicardiolipin antibodies.

[Antiphospholipid antibodies in high-risk pregnancy]. / Przeciwciala antyfosfolipidowe w ciazy wysokiego ryzyka.

UNLABELLED: Recently the connection of antiphospholipid antibodies (aPLs) presence with pregnancy loss and complications in pregnancy has been observed APLs related obstetric complications include: miscarriages after 10 weeks, IUGR, intrauterine foetal death, preeclampsia and severe preeclampsia. Our objective was to determine the aPLs prevalence in patients with recurrent pregnancy loss and/or complicated pregnancy. We examined 154 pregnant women aged 19-42 (average of 29.1) with recurrent pregnancy loss, current pregnancy complicated by preeclampsia and severe preeclampsia and/or IUGR, thrombotic episodes, thrombocytopenia or autoimmune disease. In all the patients anticardiolipin antibodies (aCL) were determined at least twice using ELISA and their coagulation system was tested including lupus anticoagulant (LA) test. In justified cases immunological examinations detecting connective tissue systemic diseases were conducted. Increased aCL titre was detected in 54 (34.4%) women. Statistically significant risk of increased aCL titre was observed in patients with autoimmunological diseases (RR = 4.3). Increased, but Statistically insignificant, risk of high aCL titre was observed in patients with venous thrombosis (RR = 2.45) as well as in patients with thrombocytopenia (RR = 2.45). LA prevailed significantly more often in patients with venous thrombosis episodes (RR = 6.33) and with autoimmunological diseases (RR = 17.4). Preterm deliveries were significantly more frequent in pregnant women with increased aCL titre and/or LA. Moreover, in this group foetal death and preterm stillbirth more often occurred. The above mentioned risks increased when aCL and LA coexisted. No relation between increased aPLs and miscarriage frequency was observed. CONCLUSIONS: 1) Increased aPLs titre prevail in multiparas with bad obstetrical anamnesis and with pathological course in present pregnancy, 2) increased aPLs titre prevail in patients with autoimmunological diseases, 3) increased aPLs titre are connected with pregnancy pathology manifested by frequent preterm deliveries and intrauterine foetal deaths.

[Anticardiolipin antibodies in patients with Buerger's disease]. / Przeciwciala antykardiolipinowe w chorobie Buergera.

The aim of this study was to estimate the incidence of occurrence of anticardiolipin autoantibodies in patients with thromboangitis obliterans (TAO). Patients with Buerger's disease had statisticaverified significant higher frequency of anticardiolipin IgM antibodies than control group. This antibody may play a role in pathogenesis of TAO, although this results should be verified because of the small number of patients and diagnostic criteria.

[Results of the treatment of Sjögren's syndrome with TFX (thymus factor X)]. / Ocena wyników leczenia preparatem TFX (thymus factor X) u chorych z zespolem Sjögrena.

Seven patients with Sjögren's syndrome (6 with primary and 1 with secondary form of the syndrome developing during SLE) were treated with TFX Polfa in ampoules of 10 mg during 6-12 month. Before the treatment, besides evaluation of the general clinical condition, the following immunological parameters were determined: IgG, IgA and IgM levels, absolute lymphocyte count, T-cell and B-cell counts, absolute neutrophil count, antinuclear antibodies, circulating immune complexes and skin tests with recall antigens (tuberculin and distreptase). The clinical condition of the patients was determined at monthly intervals and the immunological investigations were repeated after the treatment which lasted 6-12 months. In all patients alleviation was observed of the clinical manifestations of the disease with decreased proneness to infections. In some patients improvement was observed of the determined immunological parameters, in the first place, reversal of cutaneous tests from negative to positive.

[Evaluation of immunological studies in patients with rheumatoid arthritis]. / Ocena badan immunologicznych u chorych na reumatoidalne zapalenia stawów.

Immunological studies are widely applicable at a clinic in rheumatoid patients, despite the fact that their clinical value is still a disputable subject. Many authors are of opinion that the determination of individual immunological tests does not provide the estimation of immunological state in patients, and should be evaluated critically. The aim of the actual paper was to evaluate the immunological state of patients with rheumatoid arthritis by means of immunological profile index, which consists in performing concurrently many immunological tests involving both humoral immunology and cellular one. The results were referred to the duration of the disease, pathological process activity, the presence of rheumatoid factor, the advancement of osseous changes. The studies were carried out in patients, aged 16-69 years, 63 of them had RA and 9 were affected by ankylosing spondylitis. The control group comprised 16 normal subjects aged 28-61 years. It has been disclosed that the values of the immunological profile index in patients were statistically significantly lower than in the control group. The lowest values of immunological profile index were recorded in patients with extra-articular symptoms with recurrent infections of urinary and respiratory tracts, as well as in patients with active form of RA, and the presence of rheumatois factor. The patients with ankylosing spondylitis were found to reveal immunological disorders, but they were expressed less markedly than in RA patients. With the help of immunological profile it was possible to show that multifunctional immunological disorders appeared in patients with rheumatoid arthritis. The most sensitive immunological tests were: levels of immunoglobulins in blood serum, and the count of lymphocytes T and B. The immunological profile study in patients with rheumatoid inflammation of joints is an objective method of evaluating their immunological state.