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Objective: Sinus tachycardia is frequently reported in systemic lupus erythematosus (SLE), while there are limited data on post-exercise ability to slow heart rate (i.e. heart rate recovery, HRR) in this group of patients. Methods: We studied consecutive 70 patients with SLE and 30 healthy controls. All examined individuals underwent detailed clinical examination, echocardiography, Holter monitoring with heart rate variability and treadmill stress test using Bruce's protocol. HRR values were calculated as the difference between maximum HR during exercise and HR at the first (HRR1) and third (HRR3) minute of rest. Individuals with coronary artery disease, diabetes mellitus and suspected pulmonary hypertension were excluded from further analysis (n=15). Results: Fifty-five SLE patients were eligible for this study: aged 41.5±12.4 years, 87.3% women, SLICC/ACR-DI score 3.58±1.85. In the SLE group 36.4% patients received beta-blockers, usually for previously detected sinus tachycardia and/or arterial hypertension. Mean HRR1 (36.9±12.6 vs 49.5±18.6, p=0.0004) and HRR3 (55.5±14.3 vs 69.2±16.4, p=0.0001) were significantly lower in SLE than in healthy individuals. Significantly negative correlations between SLICC/ACR-DI score and HRR1 (r=-0.299, p=0.01), HRR3 (r=-0.361, p=0.001) and exercise capacity (r=-0.422, p<0.0001) were revealed. Additionally, beta-blocker treatment was also revealed to alter significantly HRR1, HRR3 and exercise capacity in SLE. Conclusion: Patients with SLE are characterized by attenuated HRR after exercise. In our study impaired HRR was associated with disease severity and beta-blocker treatment and probably with disease duration. The use of HRR assessment in SLE can be used as an additional marker of cardiac autonomic nervous system dysfunction. [ABSTRACT FROM AUTHOR]

Oestrogens acting via nuclear receptors (encoded by ESR1 or ESR2) are important for pathogenesis of systemic lupus erythematosus (SLE). rs2234693 and rs4986938 are two single nucleotide polymorphisms (SNPs) whose C and A variants increase transcription of ESR1 and ESR2, respectively. The T allele of rs2234693 was associated with early onset SLE, whereas the role of rs4986938 in SLE was not reported. Our aim was to examine the role of rs2234693 and rs4986938 in conferring susceptibility to juvenile and adult SLE (jSLE and aSLE). Genotype distribution of both SNPs was analysed in 84 jSLE, 112 aSLE patients and 1001 controls. Allele C of rs2234693 was associated with jSLE (OR = 1.87, p = 0.006, pcorrected = 0.02), whereas allele A of rs4986938 showed an association with aSLE (OR = 1.46, p = 0.008, pcorrected = 0.03). In jSLE, rs2234693 C had lower frequency in patients with central nervous system involvement (OR = 0.39, p = 0.005, pcorrected = 0.04) and showed a trend for increase among males, patients with renal involvement and those without DR2/3 (p < 0.05, pcorrected > 0.05). Whereas our results are consistent with a role of ESR1 variation in jSLE, more studies are needed since the direction of association was the opposite of that reported previously. The association between rs4986938 (ESR2) and aSLE is a novel finding, consistent with our recent report associating this variant with Graves’ disease. [ABSTRACT FROM AUTHOR]

Rheumatoid arthritis is a chronic inflammatory disease leading to disability, reduced quality of life, and severe depressive symptoms. Theoretical models and research emphasize the importance of cognitive factors such as illness-related beliefs and cognitive appraisals in the process of adapting to life with a chronic disease., Objectives: The aim of this study was to analyze the role of age, disease duration, and cognitive factors in the level of acceptance of life with rheumatoid arthritis and determine the factors responsible for short-term (one week) changes without the use of interventions. We also assessed differences in predictors between rheumatoid arthritis, vascular diseases, and diabetes., Methods: Data were collected using a panel study. The first part of the analysis included 83 participants who declared a medical diagnosis of rheumatoid arthritis. In the second part of the analysis, in addition to people with rheumatoid arthritis (69 participants), two control groups were also included: diabetes (n = 26) and vascular disease (n = 26). The analysis examined basic sociodemographic and clinical data, cognitive appraisals, illness-related beliefs, and acceptance of living with the disease twice in one week., Results: The relationship between age and levels of acceptance of living with the disease was cubic, but the groups distinguished based on age and disease duration did not differ in terms of the analyzed variables. Cognitive appraisals (both baseline and changes over one week) were responsible for changes in acceptance of living with the disease, although other variables (sociodemographic, clinical, and illness-related beliefs) also played a role. The predictors of change in acceptance of living with the disease differed between analyzed diagnoses., Conclusions: Cognitive factors are an important aspect of the adaptation process to living with an illness. Potential clinical applications and future directions of research are discussed.

Clinically silent cardiac disease is frequently observed in rheumatoid arthritis (RA), and cardiovascular complications are the leading cause of mortality in RA. We sought to evaluate the myocardium of young RA patients without known cardiac disease using cardiac magnetic resonance (CMR), including T1/T2 mapping sequences. Eighteen RA patients (median age 41 years, 83% females) mainly with low disease activity or in remission and without any known cardiovascular disease were prospectively included to undergo CMR. A control group consisted of 10 sex- and age-matched patients without RA or any known structural cardiovascular disease. Heart chambers size and left/right ventricular systolic function were similar in patients with RA and controls. Signs of myocardial oedema were present in up to 39% of RA patients, including T2 time above cut-off value in 7 patients (39%) in comparison to none of the controls ( p = 0.003) and T2 signal intensity ratio above the cut-off value in 6 patients (33%) and in none of the controls ( p = 0.06). Extracellular volume was similar in both groups signifying a lack of diffuse fibrosis in studied group of RA patients. There were also no signs of late gadolinium enhancement (LGE) in either group except for one patient with RA who was found to have prior silent myocardial infarction. No correlation was found between markers of disease severity and markers of oedema observed on CMR in patients with RA. Nevertheless, patients with increased T2 time (≥50 ms) were more likely to have X-ray erosions ( p = 0.02) and a longer duration between symptom onset and diagnosis ( p = 0.02). Finally, there were no significant arrhythmias on 24-h ECG Holter monitoring in RA patients. CMR features of myocardial oedema without signs of myocardial fibrosis were found in 39% of young RA patients without known heart disease or cardiac symptoms. Presence of myocardial oedema was associated with X-ray erosions and a longer duration between symptom onset and diagnosis. The clinical significance of the observed early myocardial changes accompanying RA requires additional studies.

Still disease is a rare systemic connective tissue disease of unknown etiology, which due to nonspecific symptoms, requires thorough diagnostics. Steroids are the basis treatment, while other immunosuppressive drugs should be applied for patients who are resistant to standard therapy., A Case Report: A 36-year-old woman was admitted to the Department of Rheumatology due to a month history of persisting fever, arthralgia, cervical lymphadenopathy, soar throat, cutaneous lesions, liver transaminases elevation, hyperferritinemia and elevated inflamatory markers. Basing on the clinical presentation and additional diagnostic examinations the adult-onset Still's disease (AOSD) was diagnosed. Initially the patient was placed on steroids and cyclosporine but due to the severe clinical course requiring high doses of steroids and relapses triggered by the tapering of the dose, the decision to initate the treatment with cyclophosphamide was made. It eventually led to the fast and lasting remission and allowed tapering and subsequent discontinuation of the steroids., Conclusions: Treatment with cyclophosphamide may be a viable and efficient therapeutic option in severe and refractory cases of AOSD., (© 2021 MEDPRESS.)

Background: The genetic backgrounds of diabetic kidney disease (DKD) and end-stage kidney disease (ESKD) have not been fully elucidated., Aim: To examine the individual and cumulative effects of single-nucleotide polymorphisms (SNPs) previously associated with DKD on the risk for ESKD of diabetic etiology and to determine if any associations observed were specific for DKD., Methods: Fourteen SNPs were genotyped in hemodialyzed 136 patients with diabetic ESKD (DKD group) and 121 patients with non-diabetic ESKD (NDKD group). Patients were also re-classified on the basis of the primary cause of chronic kidney disease (CKD). The distribution of alleles was compared between diabetic and non-diabetic groups as well as between different sub-phenotypes. The weighted multilocus genetic risk score (GRS) was calculated to estimate the cumulative risk conferred by all SNPs. The GRS distribution was then compared between the DKD and NDKD groups as well as in the groups according to the primary cause of CKD., Results: One SNP (rs841853; SLC2A1) showed a nominal association with DKD ( P = 0.048; P > 0.05 after Bonferroni correction). The GRS was higher in the DKD group (0.615 ± 0.260) than in the NDKD group (0.590 ± 0.253), but the difference was not significant ( P = 0.46). The analysis of associations between GRS and individual factors did not show any significant correlation. However, the GRS was significantly higher in patients with glomerular disease than in those with tubulointerstitial disease ( P = 0.014) and in those with a combined group (tubulointerstitial, vascular, and cystic and congenital disease) ( P = 0.018)., Conclusion: Our results suggest that selected SNPs that were previously associated with DKD may not be specific for DKD and may confer risk for CKD of different etiology, particularly those affecting renal glomeruli., Competing Interests: Conflict-of-interest statement: The authors declare that they have no competing financial interests. No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article., (©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.)

Objectives: Patients with systemic lupus erythematosus (SLE) have a higher risk of myocardial involvement, which can result in ventricular dysfunction. The aim of our study was to estimate potential relationship between exercise capacity assessed by six minute walk test (6MWT) and echocardiographic parameters of left and right ventricular function in SLE patients., Methods: We prospectively studied 66 SLE patients (57 F, age 44 (20-75) years) and 27 age matched healthy subjects. In addition to routine evaluation, 6MWT and transthoracic echocardiography including LV diastolic dysfunction parameters (E/A, E/É) were performed., Results: While E/A was similar in both groups, E/E' was higher in patients with SLE than in controls, 7.5 (4-22) vs 6.8 (1.6-9.4), p = 0.018. The mean 6MWT distance was significantly shorter in SLE (561.6 ± 150.7 vs 682.6 ± 98.1 m, p < 0.002). Among SLE patients only 53 (80.3%) were capable to walk at least 450 m, while in controls 27 (100%) (p = 0.013). We observed significant correlations between 6MWT distance and SLICC/ACR-DI (rho=-0.44, p < 0.001), E/A (rho = 0.30, p = 0.004), E/E' (rho=-0.36, p < 0.001) in SLE patients. Univariable logistic regression models revealed that SLICC/ACR-DI, E/E', tricuspid regurgitant peak gradient (TRPG), and right ventricular systolic pressure (RVSP) were associated with 6MWT distance lower than < 450 m. ROC curves shown high predictive value of E/E' ratio, TRPG, RVSP in the prediction for 6MWT distance < 450 m., Conclusion: Impaired exercise tolerance seems to result mainly from the severity of SLE and LV diastolic dysfunction.

Objectives: The aim of the study was to assess the influence of different factors, including treatment, on the risk of ILD in the course of RA., Methods: A total of 109 RA patients were included in the analysis. High-resolution computed tomography (HRCT) of chest was obtained in each patient. Patients were classified as having ILD (ILD group) or not (N-ILD group). The ILD was graded using the semi-quantitative Warrick scale of fibrosis. Warrick extent score (WES) and Warrick severity score (WSS) were calculated separately for each patient, then combined to obtain a global score (WGS)., Results: In univariate analysis the presence of ILD was associated positively with age (P = 5x10-6) and negatively with MTX treatment (P = 0.0013), mean MTX dose per year of treatment (P = 0.003) and number of DMARDs used (P = 0.046). On multivariate analysis only age and treatment with MTX were independently associated with the presence of ILD. WGS was significantly lower in patients treated with MTX in a dose of ≥15 mg/week (MTX≥15 group) as compared to patients treated with lower doses of MTX (0

Psoriatic arthritis (PsA) is a heterogeneous inflammatory arthritis, usually seronegative and associated with psoriasis (Ps). The prevalence and incidence of psoriatic arthritis show strong ethnic and geographic variations. The aim of the study was to assess the epidemiological trends in psoriatic arthritis in Poland. The National Health Fund (NHF) database for the period 2008-2018 was analyzed. PsA was defined as ICD-10 codes L40.5, M07, M07.0, M07.1, M07.2 and M07.3, while psoriasis as ICD-10 codes L40 and L40.X (L40.0 to L40.9). A steady increase in the number of PsA patients (from 16,790 to 32,644) and in PsA recorded prevalence (from 38.47 per 100,000 in 2008 to 73.11 per 100,000 in 2018) was observed between 2008 and 2018. The PsA/Ps ratio increased to a similar extent (from 8.3 to 17.5%). The percentage of PsA patients receiving rehabilitation services remained constant throughout the observation period (mean: 17.35%; range 16.7-18.9%). The study showed a steady and continuous increase in PsA recorded prevalence. A simultaneous increase in the PsA/Ps ratio suggests that the main reason for the observed trend is greater disease detection .

Background: There are no data on the influence of disease severity and cardiac autonomic tone on ventricular repolarization and dispersion in 24-hour Holter monitoring in systemic lupus erythematosus (SLE)., Methods: Consecutive 92 SLE and 51 healthy subjects were studied. The standard 12-lead electrocardiography (ECG), Holter monitoring with heart rate turbulence (HRT) and QT, Tp-e and Tp-e/QT ratio assessment (including corrected values) were performed. Subjects with conditions causing repolarization abnormalities or insufficient number of beats suitable for QT evaluation were excluded (17 SLE and 8 controls)., Results: Finally, 75 SLE and 43 sex- and age-matched controls were included to the study. In SLE patients, the median disease severity score (Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SLICC/ACR-DI)) was 3.0. The mean values of QTc, cTp-e and cTp-e/QTc were significantly higher in SLE patients than in controls. QTc ≥ 460 ms was observed in 18.7% of patients using standard ECG and in 58.7% using Holter monitoring. With Holter monitoring, patients with SLICC/ACR-DI >3.0 presented longer QTc than those with SLICC/ACR-DI ≤3.0 (418±15 vs. 409 ± 16, p  = 0.04), while cTp-e and cTp-e/QTc values were similar. Patients with abnormal HRT presented longer cTp-e and higher cTp-e/QTc than those with normal HRT (92 ± 52 vs. 71 ± 16 ms, p  = 0.04; 0.244 ± 0.126 vs. 0.187 ± 0.035, p  = 0.03), while QTc values were similar. No differences in QT and Tp-e parameters were observed according to disease duration., Conclusion: In SLE patients, Holter monitoring revealed QTc prolongation more frequently than standard ECG. Longer QTc values were observed in patients with more advanced disease, while increased cTp-e and cTp-e/QTc were related to cardiac autonomic dysfunction expressed by abnormal HRT.

The prevalence of axial spondyloarthritis (axSpA) in the published data varies significantly. Two types of axSpA can be distinguished depending upon the presence of abnormalities consistent with sacroiliitis on plain radiography: ankylosing spondylitis (AS) and nonradiographic axial SpA (nr-axSpA). The aim of this study is to perform a retrospective analysis of axSpA prevalence in Poland in the years 2008-2017. The National Health Fund (NHF) database for the period 2008-2017 was analysed. Data of all patients with the ICD-10 codes M46 (M46.1, M46.8, M46.9) or M45 (further named other inflammatory spondylopathies-OIS and AS, respectively) as the main or co-existing diagnosis were extracted and analysed. The AS prevalence was stable during the period under examination amounting to approximately 0.083%, while the OIS prevalence increased from 0.036 to 0.059%. For both men and women, the AS prevalence increased with age, reaching a maximum around the age of 70; however, in men, a marked increase in prevalence was observed earlier as compared to women (20-24 vs. 40-44 years, respectively). The OIS prevalence also increased with age; however, the maximum was reached earlier as in case of AS. Moreover, a sharp increase in OIS prevalence occurred earlier than in AS (15-19 years) with no difference between sexes. In Poland, approximately 0.1% of the population suffers from AS-the prevalence remained stable over the last decade. The prevalence of OIS increased markedly over the studied period which presumably reflects an increasing prevalence of nr-axSpA as the effect of the introduction of ASAS classification criteria for axSpA.

Background: Rheumatoid arthritis (RA) is a chronic autoimmune disease. Therapy is based on disease-modifying agents. Methotrexate (MTX) is used in first-line therapy and, in the case of failure, its alternatives include leflunomide, which was recommended in Poland within the National Health Fund Therapeutic Program., Objectives: The purpose of the study was to evaluate the parameters of quality of life of Polish patients with high RA activity during treatment with leflunomide. Additional aims were to evaluate the effectiveness and safety of treatment., Material and Methods: We performed a retrospective analysis of the data from the PLUS study. The PLUS study comprised 887 adult patients from 30 centers. During the study patients received leflunomide in a maintenance dose of 20 mg or 10 mg once daily. Before the study, 100 mg of leflunomide had been administered daily for 3 days, followed by a maintenance dose of 20 mg/day or 10 mg/day for at least a month before enrollment. The PLUS study observation time was up to 12 months with 1 control visit every 3 months. The patients' quality of life was assessed with Health Assessment Questionnaire Disability Index (HAQ-DI). Erythrocyte sedimentation rate (ESR), Disease Activity Score (DAS28) and CRP (C-reactive protein) concentration were used to assess the disease activity., Results: Six hundred seventy-nine patients completed the study. The HAQ-DI decreased after 3 months of observation (mean value 1.46 vs baseline 1.63; p = 0.001) and remained stable. The percentage of patients with HAQ-DI less than 1 and greater than 2 increased from 12.2% to 17.8% and decreased from 33.2% to 20.3%, respectively (p < 0.0001); DAS28 progressively decreased on subsequent visits. C-reactive protein and ESR decreased after 3 months and remained stable. Adverse events were observed in 4.4% of patients., Conclusions: Treatment with standard leflunomide doses is safe and allows for significant clinical improvement.

Rheumatoid arthritis (RA) is a common systemic autoimmune disease characterized by increased cardiovascular morbidity. Several previous studies assessed associations between common atherosclerotic genetic risk factors and subclinical atherosclerosis (SA) in RA patients, yet most of them gave negative results. We undertook a cross-sectional study to evaluate the association between previously reported SNPs and subclinical atherosclerosis in a cohort of Polish RA patients. 29 SNPs associated with atherosclerosis in general population were genotyped in 289 RA patients: 116 patients with SA (increased carotid intima-media thickness and/or presence of carotid plaque) and 173 patients without SA. To assess the cumulative effect of SNPs we calculated 3 weighted genetic risk scores: GRS IMT , GRS CP and GRS CAD , comprising intima-media thickness-associated SNPs, carotid plaque-associated SNPs and coronary artery disease-associated SNPs, respectively. None of the SNPs showed a significant association with SA. However, we found an association between SA and GRS IMT . Interestingly, this association was limited to patients with short disease duration (P = 0.00004 vs. P > 0.5, for comparison of GRS IMT among patients within the 1st quartile of disease duration vs. others, respectively). Patients within the 1st quartile of disease duration were more frequently disease modifying anti-rheumatic drugs (DMARDs)-naïve and less frequently treated with biologics. Our study suggests that in patients with early RA subclinical atherosclerosis may be driven by similar genetic factors as in general population, while in long-lasting disease, the role common genetic risk factors may decrease. Possibly, this effect may be due to the influence of DMARDs.

Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are connective tissue diseases presenting cardiac complications including different arrhythmias, then direct electrocardiographic comparison may be useful in everyday clinical decision making. We examined 86 adult SSc patients, 76 with SLE and 45 healthy controls. Among other examinations all subjects underwent 24-h Holter monitoring with time-domain heart rate variability and heart rate turbulence evaluation. Patients with various co-existing conditions which might markedly influence arrhythmias and autonomic modulation were excluded from further analysis (SSc n = 12, SLE n = 6). Finally, 76 SSc and 70 SLE subjects were eligible for this study, mean age 51.9 ± 13.1 and 46.5 ± 12.7 years (p = 0.11), with median disease duration 6.0 and 8.5 years (p = 0.15), respectively. As compared to SLE, patients with SSc were characterised by more frequent incidence of various supraventricular and ventricular arrhythmias. As compared to SSc, patients with SLE presented prolonged corrected QT intervals and also significant correlations between corrected QT length and heart rate variability indices. Both SSc and SLE subjects presented impaired sympathetic cardiac autonomic modulation, while indices associated with parasympathetic activity in SLE were not diminished. Disease duration was not associated with arrhythmias' occurrence (except for ventricular tachycardia in SSc, p = 0.02) and also with autonomic function in both groups of patients. Patients with SSc and SLE differ in terms of arrhythmias, conduction disturbances and cardiac autonomic tone. Regular Holter monitoring should be considered as a part of routine evaluation in connective tissue diseases patients, especially in systemic sclerosis.

Genetic factors play a key role in the pathogenesis of atrial fibrillation (AF). We would like to establish an association between previously described single-nucleotide polymorphisms (SNPs) and AF in haemodialysed patients with end-stage kidney disease (ESKD-HD) as well as to assess the cumulative effect of all genotyped SNPs on AF risk. Sixteen SNPs were genotyped in 113 patients with AF-ESKD-HD and in 157 controls: without AF (NAF) and with ESKD-HD. The distribution of the risk alleles was compared in both groups and between different sub-phenotypes. The multilocus genetic risk score (GRS) was calculated to estimate the cumulative risk conferred by all SNPs. Several loci showed a trend toward an association with permanent AF (perm-AF): CAV1, Cx40 and PITX2. However, GRS was significantly higher in the AF and perm-AF groups, as compared to NAF. Three of the tested variables were independently associated with AF: male sex, history of myocardial infarction (MI) and GRS. The GRS, which combined 13 previously described SNPs, showed a significant and independent association with AF in a Polish population of patients with ESKD-HD and concomitant AF. Further studies on larger groups of patients are needed to confirm the associations.

Objectives: To investigate the diagnostic performance and reliability of ultrasonography (US) in detecting and grading common extensor tendon (CET) tear in patients with chronic lateral epicondylitis (LE), using magnetic resonance imaging (MRI) as the reference standard., Materials and Methods: The study comprised fifty-eight chronic LE patients. Each patient underwent US and MRI. CET status was classified as: high-grade tear (≥50% thickness), low-grade tear (<50% thickness), suspected tear (possible but not evident tear), no tear. Additionally, the following dichotomous scale was used: confirmed or unconfirmed CET tear. Relative US parameters (versus MRI) for detecting CET tear included: sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy. The agreement between US and MRI findings was measured using the weighted Cohen kappa coefficient (κ)., Results: US showed moderate agreement with MRI in detecting and grading CET tear (κ = 0.49). Sensitivity, specificity, and accuracy in CET tear detecting by US were 64.52%, 85.19%, and 72.73%, respectively. PPV and NPV of US were 83.33% and 67.65%, respectively. No patient with unconfirmed CET tear on US had high-grade CET tear on MRI., Conclusion: Ultrasonography is a valuable imaging modality that can be used as a screening tool to exclude high-grade CET tear in chronic LE patients. Once a tear is evident on US, MRI should be considered to assess precisely the extent of tendon injury.

Objectives: To confirm the association of previously discovered psoriasis (Ps) risk loci with the disease in a Polish population and to create predictive models based on the combination of these single nucleotide polymorphisms (SNPs)., Material and Methods: Thirty-eight SNPs were genotyped in 480 Ps patients and 490 controls. Alleles distributions were compared between patients and controls, as well as between different Ps sub-phenotypes. The genetic risk score (GRS) was calculated to assess the cumulative risk conferred by multiple loci., Results: We confirmed associations of several loci with Ps: HLA-C, REL, IL12B, TRIM39/RPP21, POU5F1, MICA. The analysis of ROC curves showed that GRS combining 16 SNPs at least nominally (uncorrected P<0.05) associated with Ps (GRS-N) had significantly better discriminative power than GRS combining SNPs associated with Ps after the Bonferroni correction (AUC 0.776 vs. 0.750, P = 1 x 10-4) or HLA-C (AUC 0.776 vs. 0.694, P<1 x 10-5). On the other hand, adding additional SNPs to the model did not improve its discriminatory ability (AUC 0.782 for GRS combining all SNPs, P>0.05). In order to assess the total risk conferred by GRS-N, we calculated ORs according to GRS-N quartile - the Ps OR for top vs. bottom GRS-N quartiles was 12.29 (P<1 x 10-6). The analysis of different Ps sub-phenotypes showed an association of GRS-N with age of onset and family history of Ps., Conclusions: We confirmed the association of Ps with several previously identified genetic risk factors in a Polish population. We found that a GRS combining 16 SNPs at least nominally associated with Ps had a significantly better discriminatory ability than HLA-C or GRS combining SNPs associated with Ps after the Bonferroni correction. In contrast, adding additional SNPs to GRS did not increase significantly the discriminative power.

To evaluate prospectively the efficacy of methotrexate (MTX) in the treatment of recurrent idiopathic acute anterior uveitis (RIAAU). Nineteen out of 22 RIAAU patients completed the study (two patients withdrew their consent shortly after study initiation, one patient discontinued after 4 weeks because of the adverse effects). All patients were treated with MTX in a starting dose of 15 mg/week, increased to target dose of 25 mg/week after 4 weeks. In patients taking systemic corticosteroids (CS) the dose was gradually tapered (by 2.5 mg every week) until discontinuation. The mean follow-up period was 3.3 years (19-59 months). Sixteen patients (84 %) remained flare-free on MTX therapy. In the remaining three patients the mean interval between flares increased from 4.8 to 18.3 months. Systemic CS were tapered off in all patients. The number of acute anterior uveitis flares in the whole cohort decreased from 2.12 to 0.11/patient-year (p < 0.0001). All flares observed on MTX therapy occurred in HLA-B27-positive patients. MTX dosed at 25 mg/week is highly effective in the treatment of RIAAU.

Introduction: The aim of the study was to investigate the presence of subclinical atherosclerosis and predictors of change in carotid intima-media measures in early rheumatoid arthritis patients (eRA) as compared to chronic RA patients and patients without arthritis., Material and Methods: Fifty-five consecutive eRA patients were assessed at the time of diagnosis and after 1 year of therapy. Fifty-five sex- and age-matched chronic RA patients and 29 patients without inflammatory disease were used as controls. Carotid artery intima-media thickness (CIMT) and carotid plaques were measured at baseline and after follow-up. In eRA patients ultrasound assessment of hand joints was performed before and after treatment. Carotid artery intima-media thickness was assessed again after 2 years in 44 eRA patients., Results: Carotid artery intima-media thickness progression after 1 year of therapy was higher in eRA patients compared to both control groups ( p = 0.017) and correlated with symptoms duration ( p = 0.017) and DMARD monotherapy ( p = 0.015). Ultrasound progression of hand joint erosions was associated with longer symptoms duration ( p = 0.006). After 2 years of observation CIMT progression was similar in all examined groups., Conclusions: We observed rapid CIMT progression during the first year of RA therapy. Longer symptoms duration and less aggressive therapy were associated with CIMT increase., Competing Interests: The authors declare no conflict of interest.

Objectives: (1) To compare the prevalence of preclinical atherosclerosis in diabetic vs. non-diabetic rheumatoid arthritis (RA) patients; (2) to determine the influence of classical and RA-related factors on atherosclerosis; (3) to assess the usefulness of combined carotid and femoral ultrasonography in detecting atherosclerosis., Methods: The study comprised 42 non-diabetic RA patients, 42 diabetic RA patients and 42 controls. Intima media thickness (IMT) was measured in the common carotid and superficial femoral arteries. These vessels were screened for atherosclerotic plaque., Results: Plaque was more prevalent in diabetic RA patients than in non-diabetic RA patients or controls. Carotid IMT and femoral IMT were higher in diabetic RA patients compared to controls. So was femoral IMT in diabetic compared to non-diabetic RA patients. The prevalence of increased IMT and plaque was comparable in carotid ultrasonography and combined carotid and femoral ultrasonography in all groups., Conclusions: Subclinical atherosclerosis was found to be higher in diabetic RA patients than in non-diabetic RA patients. The combination of carotid and femoral artery ultrasonography did not improve the detection of atherosclerosis in RA.

Objective: The risk of cardiovascular disease is increased in systemic lupus erythematosus (SLE). A meta-analysis showed increased carotid intima media thickness (IMT) in SLE. The aim of this study was to assess the influence of different SLE characteristics and treatment regimens on IMT and atherosclerotic plaques., Methods and Results: One hundred and three SLE patients and 95 age- and sex-matched control subjects were included in the study. MT was measured in the common carotid arteries bilaterally. Common carotid arteries, internal carotid arteries and superficial femoral arteries were also screened for the presence of plaques. The presence of plaques was correlated with age (P = 0.00002), male sex (P = 0.034), Framingham 10-year risk score (P < 1 x 10(-6)), SLE duration (P = 0.00006), lack of immunologic disorder (P = 0.0014) and Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) Damage Index (P = 0.049). IMT was associated with SLE duration (P = 0.002), body mass index (P = 0.026), Framingham 10-year risk score (P < 0.001), total cholesterol concentration (P = 0.002), LDL cholesterol concentration (P = 0.007), SLICC/ACR (P = 0.035), hypertension (P = 0.002), immunologic disorder (P = 0.00008) and discontinuous treatment with immunosuppressive drugs (P = 0.043)., Conclusions: We found a correlation between atherosclerosis and several classical cardiovascular risk factors and disease-related factors. A beneficial effect of continuous immunosuppressive treatment on IMT suggests that appropriate disease control with steroid-sparing agents may protect against atherosclerosis in SLE patients.

Background: Vitamin D deficiency is common in rheumatoid arthritis (RA) and may be related to disease activity. Population-based studies have shown the influence of vitamin D deficiency on quality of life (QoL), but it was not investigated in RA patients., Objectives: The aim of the study was to determine possible relationship between vitamin D deficiency, QoL, physical activity (PA), and disease activity in RA., Methods: In 97 consecutive RA patients without vitamin D supplementation (86 women and 11 men, aged 59.4 ± 12 years), serum 25-hydroxycholecalciferol (25(OH)D), calcium, phosphorus, and parathyroid hormone were measured. The patients completed Short Form 36 (SF-36), Beck Depression Inventory, and Health Assessment Questionnaire, assessed the intensity of pain, fatigue, and PA. Disease Activity Score in 28 Joints was used to assess disease activity. A comparison control group consisted of 28 osteoarthritis patients (25 women and 3 men aged 56.2 ± 15 years)., Results: Vitamin D deficiency was detected in 76.3% of RA and in 78.6% of osteoarthritis patients (P = 0.75). There was a negative correlation between 25(OH)D serum concentration and Disease Activity Score in 28 Joints in patients with active arthritis. There was a positive correlation between serum 25(OH)D and the level of PA and most aspects of SF-36, and negative correlation between serum 25(OH)D and Health Assessment Questionnaire and Beck Depression Inventory in patients with disease duration of 1 year or longer. After inclusion of PA into multivariable analysis, only the correlations between 25(OH)D and SF-36 mental subscale (MCS) and pain remained significant., Conclusions: Vitamin D deficiency is highly prevalent in RA patients and is associated with higher disease activity and worse QoL indices. Regular PA correlates with higher vitamin D titers and better QoL in RA. Further studies are needed to explain possible influence of vitamin D on RA activity.

Polymyalgia rheumatica (PMR) is a common inflammatory disease in elderly people. We present a case of a 49-year-old woman diagnosed with PMR. The treatment with prednisone resulted in a rapid resolution of clinical symptoms. However, inflammatory markers remained elevated. Ultrasonography and computed tomography revealed the presence of a large splenic lesion. A cyst was suspected but, because of the high risk of splenic rupture, a splenectomy was performed. The histopathological examination revealed the presence of splenic marginal zone lymphoma. Inflammatory markers returned to normal after splenectomy. Prednisone was tapered but clinical symptoms of PMR reappeared after lowering the dose of prednisone <10 mg/day. Thus, treatment with methotrexate was started, which allowed for further tapering of prednisone., (© 2015 MEDPRESS.)

Introduction: The risk of cardiovascular disease is increased in rheumatoid arthritis (RA). A meta-analysis showed increased intima media thickness (IMT) in RA. It has been shown that disease modifying antirheumatic drugs (DMARDs) may influence the progression of atherosclerosis. However, it was suggested that biologics may be more efficient than other DMARDs (including methotrexate--MTX) in protecting against atherosclerosis., Objectives: The aim of this study was to assess the influence of different RA characteristics and treatment regimens on IMT and atherosclerotic plaques., Patients and Methods: 317 RA patients and 111 controls were included in the study. IMT was measured in carotid (CIMT) and femoral (FIMT) arteries. Arteries were screened for the presence of plaques., Results: CIMT, FIMT, and prevalence of plaques were lower in patients treated with methotrexate (MTX) ≥ 20 mg/wk, cyclosporine (CsA), or biologics than in patients treated with lower doses of MTX and other disease modifying antirheumatic drugs. No differences in IMT between patients treated with MTX ≥ 20 mg/wk, biologics, or CsA were found., Conclusions: We found a beneficial effect of MTX ≥ 20 mg/wk, biologics, and CsA on atherosclerosis. We do not confirm a stronger influence of biologics on IMT compared with therapeutic doses of MTX.

A 45-year-old woman was admitted to the hospital because of abdominal pain, fever, and weight loss. Laboratory tests performed on admission revealed raised inflammatory markers. Ultrasonography of the abdomen showed dilatation of the pyelocalyceal system of the left kidney, while computed tomography showed retroperitoneal concentric periaortic mass extending to common iliac arteries and entrapping the left ureter. We established the diagnosis of idiopathic retroperitoneal fibrosis (RPF). JJ catheter was placed in the left ureter, and treatment with corticosteroids and azathioprine was started. Follow-up examinations showed a gradual improvement, namely a progressive remission of the retroperitoneal mass and normalization of both erythrocyte sedimentation rate and C-reactive protein concentration. Case reports, including our paper, and small case series showed azathioprine to be particularly effective in the treatment of RPF.

Background: Genetic C3435T polymorphism of the multidrug resistance gene-1 (MDR-1) limits oral bioavailability of clopidogrel and influences prognosis in patients with myocardial infarction., Aim: To assess the effects of C3435T polymorphism on platelet reactivity and prognosis in patients with acute coronary syndromes treated with percutaneous coronary intervention with stenting., Methods: Ninety-eight patients were divided into subgroups according to closure time (CT) measured with the Platelet Function Analyzer-100 by means of collagen/adenosine diphosphate (CADP) and collagen/epinephrine (CEPI) cartridges. Patients with CADP-CT<130 s and patients with CEPI-CT

Background: Coexisting polymorphisms of the genes affecting clopiogrel resistance may influence platelet activation., Methods and Results: In 105 patients with acute coronary syndrome (ACS) treated with percutaneous coronary intervention, platelet function was measured and registered as closure time in the test with collagen and adenosine diphosphate (CADP-CT). Patients were followed for 12 months for death or recurrent myocardial infarction (MI). Genotyping revealed 7 carriers of both the C allele of P2Y12 and A allele of CYP2C19 (group 1), 14 carriers of the T allele of P2Y12 and A allele of CYP2C19 (group 2), 17 carriers of the C allele of P2Y12 and G allele of CYP2C19 (group 3) and 67 carriers of the T allele of P2Y12 and G allele of CYP2C19 (controls). The median CADP-CT value was significantly lower in group 1 than in group 2 or 3 (p<0.01) or controls (p<0.002), but did not differ between group 2 or 3 and controls. There were 2 cardiovascular deaths and 4 MI during follow-up, and the median CADP-CT value was lower in these patients (p=0.09)., Conclusions: Coexisting, rather then single, polymorphisms of different genes may be related to persistent platelet activation while on clopidogrel, which raises concern about harm in patients with ACS.

Objective: To investigate whether a polymorphism in the ESR2 gene (rs4986938, previously associated with endometriosis, ovulatory dysfunction and premature onset of coronary heart disease) increases the risk of Graves' disease (GD)., Subjects and Design: A cohort of 375 GD patients (300 females and 75 males) and 1001 individuals representative of the background population of Poland (502 males and 499 females) were genotyped for rs4986938 using allele-specific polymerase chain reaction (PCR)., Results: We found an increased frequency of the ESR2 A allele among the patients vs. controls (38.0%vs. 32.7%, OR = 1.26, P = 0.009) that was caused by a co-dominant (OR = 1.25, P = 0.01, P(for model fit) = 0.127) or a recessive (OR = 1.67, P = 0.003, P(for model fit) = 0.554) effect. The association was found in both sexes (OR = 1.21, P = 0.046 and OR = 1.53, P = 0.029, respectively, for co-dominant and recessive models in females, and OR = 1.44, P = 0.034 and OR = 2.29, P = 0.01, respectively, for the two models in males) and was more pronounced among the DRB1*03-negative (OR = 1.63, P = 0.0002) than DRB1*03-positive patients (OR = 1.04, P = 0.822). No other statistically significant associations between the ESR2 genotype and GD subsets were found (age of onset, smoking, clinically evident ophthalmopathy, family history of GD, and PTPN22 and CTLA4 (CT60) genotypes were analysed)., Conclusions: In a Polish population the ESR2 A allele is associated with GD with a strength comparable to polymorphisms of PTPN22 and CTLA4 CT60 loci (OR approximately 1.7). The association with ESR2 is found in both sexes and may be particularly strong among the DRB1*03-negative individuals.

Despite research the role of the M34T and V37I variants of GJB2 in causing hearing impairment (HI) remains controversial. Our purpose was to test a hypothesis that M34T and V37I are pathogenic but have distinct features resulting in a reduced penetrance. We screened for known GJB2/GJB6 mutations 233 Polish consecutive unrelated subjects with non-syndromic, sensorineural HI who were previously found to carry 35delG mutation on one chromosome. The most frequent mutations were also analyzed in approximately 1,000 controls. We found that M34T and V37I were significantly (P << 10(-6)) overrepresented among patients, but their penetrance was estimated as 1/10 relative to mutations of undisputed pathogenicity. This finding apparently could not be explained by low degree of HI associated with M34T and V37I since another mutation causing comparably mild HI (L90P) did not have reduced penetrance. Subsequent analyses showed that the patients with M34T/35delG and V37I/35delG had significantly later onset of HI than patients with other genotypes (P < 10(-6)) including the L90P/35delG (P = 0.006). Also, among these patients (but not others) a strong correlation between the degree of HI and its duration was found (r = 0.79, P < 10(-5)). We tentatively suggest that M34T and V37I might cause mild HI characterized by relatively late onset and progression., (Copyright 2007 Wiley-Liss, Inc.)

Leber hereditary optic neuropathy is a maternally inherited type of blindness caused by degeneration of the optic nerve. It is caused by point mutations in mitochondrial DNA. Like in other mitochondrial diseases, its penetrance and inheritance is complicated by heteroplasmy, tissue distribution, and the bottleneck phenomenon in oocyte maturation. On the cellular level, the mechanism of the disease development is still mysterious. Currently three theories of pathomechanism of LHON are considered: biochemical, ROS (reactive oxygen species) and apoptotic.