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Background Neutrophils are able to trap and kill microbes via the release of their DNA decorated with proteins from granule and histones into the extracellular environment; however, this mechanism has also emerged as a potential source of auto-antigens and inflammation during the course of many autoimmune diseases. It has been demonstrated that neutrophils from patients with rheumatoid arthritis (RA) have a greater propensity to release neutrophil extracellular traps (NETs). DNAse I, an endonuclease involved in the breakdown of chromatin, has been implicated in the pathophysiology of autoimmune diseases. Aim of the work To investigate the genetic associations of a non-synonymous single nucleotide polymorphism (SNP) in DNAse I with the risk of RA and its influence on clinical and radiographic features in an Argentinean population. Patients and methods The Q222R A/G DNAse I SNP was studied in 210 RA patients and 206 matched healthy controls. Disease activity score, health assessment questionnaire and the modified Sharp van der Heijde score were assessed. Results The patients’ median age was 56 years (48–64), disease duration 128 months (20–205) and 86.7% were females. Genotype distribution and G-allele frequency were comparable between patients and control. There was no significant association of the Q222R A/G genotypes with disease susceptibility, activity, functional status or radiological score among RA Argentine patients. Conclusions No significant genetic association was found between the carriage of the DNAse I Q222R G-allele and the risk of RA nor was there any association with the disease activity, functional capacity or severity in an Argentine patient cohort. [ABSTRACT FROM AUTHOR]

Aim: A polymorphism in the tumor necrosis factor-alpha (TNF-α) promoter region has been associated with disease susceptibility and progression in rheumatoid arthritis (RA). The presence of an adenosine (TNF2 allele) instead of a guanine (TNF1 allele) at position -308 may be responsible for a general increase in the transcriptional activity of the TNF-α gene. Our aim was to evaluate the association of the TNF2 allele with the risk of disease development and/or progression of RA in an Argentine population cohort. Methods: Two hundred and twenty-three consecutive patients with RA according to the 1987 criteria of the American College of Rheumatology were included in the study. Clinical variables, Disease Activity Score 28, Health Assessment Questionnaire and Rheumatoid Arthritis Quality of Life were recorded. The radiographic erosions were determined by the method of Sharp/van der Heijde. A group of 111 healthy subjects matched by sex and age was used as a control. All samples were genotyped for the -308 G/A TNF-α polymorphism. Results: No significant differences were observed either in the frequency of the TNF2 allele or in the genotypic distributions of the -308 G/A TNF-α polymorphism (P > 0.05) between the control group and the RA patients. No association was found between the TNF2 allele and the variables related to the course and outcome of the disease (P > 0.05). Conclusion: In this cohort of Argentinean patients with RA, the TNF2 allele was neither associated with susceptibility to the disease nor was it associated with the variables related to the course and outcome of the disease. Key words: -308 G/A TNF-α, polymorphism, rheumatoid arthritis, tumor necrosis factor-alpha. [ABSTRACT FROM AUTHOR]

The Rheumatoid Arthritis Quality of Life (RAQoL) questionnaire is the first needs-based instrument specifically designed to measure quality of life (QoL) of patients with rheumatoid arthritis (RA). The aims of our study were to develop an Argentinean version of the RAQoL and to determine its reproducibility, validity, and sensitivity to change in patients with RA. Translation process was performed according to internationally accepted methodology. Internal consistency and test-retest reliability were calculated. Criterion and construct validity were assessed by comparing the RAQoL with parameters of disease activity, the Health Assessment Questionnaire (HAQ), and the Medical Outcomes Study 36-item health survey (SF-36) questionnaire. Sensitivity to change was measured at 6-12 months using standardized response mean (SRM). The minimal important change was defined as a change of 1 or 1.96 times the standard error of measurement. A total of 97 patients with RA were included. Cronbach's α was 0.93, and test-retest reliability was 0.95. The RAQoL showed moderate to strong correlation with parameters of disease activity, the HAQ, and the SF-36. Functional status was the main determinant of patients' level of QoL. The SRM of the RAQoL was 0.24. Agreement between 20 % improvement in RAQoL and ACR20 response was moderate. Minimal important change was 2.2 (1 SEM) or 4.3 (1.96 SEM). The Argentinean version of the RAQoL is the first Spanish translation of this questionnaire. Our findings show it to be valid, reliable, and sensitive to changes in RA clinical status. [ABSTRACT FROM AUTHOR]

Objectives: Crohn's disease (CD) and Behçet's disease (BD) are two autoinflammatory diseases that share clinical and pathogenic features. Furthermore, when BD involves the gastrointestinal tract, it is extremely difficult to distinguish endoscopic lesions from CD lesions. HLA-B*51 allele expression is highly associated with BD diagnosis. In this study we analysed HLA-B*51 status in 70 Argentine patients with confirmed CD diagnosis and compared it to our previous Argentine BD cohort, with the aim of finding similarities or differences between these two diseases regarding HLA-B*51 status., Methods: This is a multi-centre case-control study, including 70 patients with confirmed CD diagnosis, who underwent HLA-B*51 allele status testing; the results were compared to our previous BD cohort of 34 patients., Results: Among patients with CD, 12.85% were positive for the HLA-B*51 allele, compared with 38.24% patients with BD (OR=0.238; 95% CI=0.089-0.637; p=0.004)., Conclusions: Our finding suggests that determination of HLA-B*51 allele status may contribute to the differential diagnosis between CD and BD.