Search Results (1,226)

Background: Agents responsible for the initiation of autoimmune responses are still under investigation. The aim of this study was to determine Nogo-A and NfL levels in CSF samples from newly diagnosed multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD) and pseudotumour cerebri (PTC) patients positive for HHV6-A IgG autoantibody. Methods: Initial CSF samples from 42 patients were analysed by ELISA. Independent samples t tests, Mann–Whitney U tests, crosstabulation with Fisher’s exact tests and Pearson/Spearman correlation analyses were used for group comparisons. Results: Anti-HHV6A IgG positivity was highest in MS, followed by NMOSD and then PTC (6.7%), but no significant difference in positivity was found among the groups (p = 0.367). No significant difference was found among the groups for NfL or Nogo-A levels (p = 0.373, p = 0.975, respectively). Anti-HHV6A negative MS cases had lower Nogo-A levels than positive cases (p = 0.046). In addition, anti-HHV6A negative PTC cases had lower Nogo-A levels than positive cases (p = 0.015). Anti-HHV6A positive MS patients had lower Nogo-A levels than the PTC positive group and this difference was very close to significant (p = 0.063). Conclusions: Anti-HHV6A positivity was found mainly in the MS group. Anti-HHV6A was found to be associated with Nogo-A levels, especially in the MS and PTC groups. Anti-HHV6A autoantibodies might play a role in the pathophysiology of MS. Full article

Background: Pulmonary involvement is the most common prognosis-related organ involvement in idiopathic inflammatory myopathy (IIM). Owing to the large number of antibodies, the evidence for lung involvement and rare antibodies is limited. In everyday clinical practice, the interpretation of positive myositis antibodies represents a challenge. Methods: This study is a retrospective monocentric analysis. The data collection regarding positive myositis antibodies and possible pulmonary involvement was carried out from July 2019 to May 2022. Data analysis revealed positive results for one of the following antibodies: EJ, PL7, OJ, PL12, Mi-2α, TIF1γ, MDA5, SAE, NXP2, SRP, Ku, PM-Scl100 and PM-Scl75. In our analysis, patients with IIM, patients with inflammatory rheumatic disease other than IIM and patients without inflammatory rheumatic disease are described. The results of high-resolution computed tomography (HRCT), pulmonary function tests, echocardiographic examinations and their associated clinical findings are examined. Results: In the entire cohort, 209 patients with positive myositis antibodies were detected. In total, 22 (10.5%) patients had interstitial lung disease (ILD) patterns on HRCT. In the subgroup of patients with IIM, a significantly higher proportion of patients with lung involvement (n = 13, 35.1%) was found than in the group with other inflammatory rheumatic diseases (IRDs) (n = 6, 6.7%) or in the group without IRDs (n = 3, 3.7%). When the antibody groups were considered, the PL12-positive patients had the largest proportion of ILD (42%), followed by the MDA5-positive patients (40%). Conclusions: In patients with IIM, myositis antibodies are highly relevant for assessing the risk of lung involvement. In groups with other IRD or without IRD, antibody detection does not represent this high relevance for lung involvement. A differentiated assessment of the various MSAs or MAAs detected, as well as clinical parameters, allows for further important risk assessment for prognosis-relevant lung involvement. Full article

Background: Despite therapeutic advances, morbidity and mortality remain high in patients with rheumatoid arthritis (RA) and psoriatic arthritis (PsA), primarily due to increased cardiovascular risk. Objectives: Our study aimed to evaluate the cardiovascular risk profile and biomarker dynamics in patients with RA and PsA treated with Janus kinase inhibitors (JAKis). To our knowledge, this is the first study assessing Lp(a) levels in this context. Methods: This prospective, observational study assessed 48 adult patients. The follow-up period was 12 months. Traditional cardiovascular risk factors and biological markers, including lipid profile, lipoprotein(a) [Lp(a)], and uric acid (UA), were assessed at baseline and follow-up. Correlations between JAKi therapy, lipid profile changes, and cardiovascular risk factors were investigated. Cox regression analysis was used to identify predictors of non-major cardiovascular events. Results: A strong positive correlation was observed between baseline and 12-month Lp(a) levels (r = 0.926), despite minor statistical shifts. No major cardiovascular events occurred during follow-up; however, 47.9% of patients experienced non-major cardiovascular events (e.g., uncontrolled arterial hypertension, exertional angina, and new-onset arrhythmias). Active smoking [hazard ratio (HR) 9.853, p = 0.005], obesity (HR 3.7460, p = 0.050), and arterial hypertension (HR 1.219, p = 0.021) were independent predictors of these events. UA (HR 1.515, p = 0.040) and total cholesterol (TC) (HR 1.019, p = 0.034) were significant biochemical predictors as well. Elevated baseline Lp(a) combined with these factors was associated with an increased event rate, particularly after age 60. Conclusions: Traditional cardiovascular risk factors remain highly prevalent and predictive, underscoring the need for comprehensive cardiovascular risk management. Lp(a) remained stable and may serve as a complementary biomarker for risk stratification in JAKi-treated patients. Full article

Background/Objectives: Inborn errors of immunity (IEIs) represent a wide spectrum of diseases characterized by a predisposition to recurrent infections, as well as increased susceptibility to autoimmune, atopic, and autoinflammatory diseases and malignancies. The aim of this study was to report the registry-based frequency and describe the clinical characteristics of IEIs among patients in the Republic of Kazakhstan. Methods: We analyzed data from 269 patients belonging to 204 families who were either self-referred or referred by healthcare providers to the University Medical Center of Nazarbayev University with suspected IEIs. All patients resided in various regions across Kazakhstan. Results: A total of 269 diagnosed cases were identified in the national registry. The estimated prevalence was 1.3 per 100,000 population. The gender ratio was nearly equal, with 139 males and 130 females. The median age at diagnosis was 5 years (range: 1 month to 70 years), while the mean age was 11.3 years. The most common diagnosis was humoral immunodeficiency, observed in 120 individuals (44.6%), followed by complement deficiencies in 83 individuals (30.8%). Combined immunodeficiencies with syndromic features were found in 35 patients (13%), and phagocytic cell defects were identified in 12 patients (4.5%). The predominant clinical manifestations included severe recurrent infections and autoimmune cytopenias, while atopic and autoinflammatory symptoms were reported less frequently. Conclusions: These findings contribute to a better understanding of the registry-based distribution and clinical spectrum of IEIs in Kazakhstan and underscore the importance of early diagnosis and targeted care for affected individuals. Full article

Objective: Physical joint examination is fundamental in rheumatoid arthritis (RA) assessment. This study evaluated the diagnostic accuracy and agreement between standardized and non-standardized physical joint examinations in RA patients using musculoskeletal ultrasound as the reference standard. Methods: We assessed the joints for tenderness and swelling, calculating sensitivity, specificity, and predictive values. Musculoskeletal ultrasound was used as the reference standard, with adjustment for imperfect reference bias. Agreement between the methods was evaluated using the average kappa coefficient. Results: A total of 1496 joints were evaluated. Without adjustment for imperfect reference bias, standardized examination showed higher sensitivity for detecting pain and swelling than non-standardized examination. Specificity was similar for pain but higher for swelling in standardized examination. After bias adjustment, standardized examination sensitivity improved for pain (93.8% vs. 77.3%; 95% CI: 0.14–0.19) and swelling (91.9% vs. 60.0%; 95% CI: 0.29–0.34). Tenderness specificity remained comparable (standardized examination: 75.4%, non-standardized examination: 76.3%), while the non-standardized examination maintained superior swelling specificity (85.7% vs. 77.1%). Standardized joint examination demonstrated significantly higher concordance than non-standardized assessment in evaluating joint tenderness; standardized assessment yielded significantly greater average kappa coefficients under both false-positive-prioritized (0.44 vs. 0.37; p = 0.01) and false-negative-prioritized scenarios (0.59 vs. 0.45; p < 0.0001). For joint swelling, standardized evaluation showed significantly higher concordance when false negatives were considered more critical (0.59 vs. 0.37; p < 0.0001), whereas differences under false-positive prioritization were not statistically significant. Conclusions: Standardization of the physical joint examination significantly improves diagnostic accuracy and agreement in detecting joint tenderness and swelling in patients with rheumatoid arthritis. Implementing a standardized physical examination protocol may enhance disease activity diagnosis and optimize clinical management of RA. Full article

Background: Antinuclear antibodies (ANAs) serve as crucial biomarkers for diagnosing systemic autoimmune diseases; however, their interpretation can be complex and may not always correlate with clinical symptoms. Methods: A comprehensive narrative review was conducted to evaluate the peer-reviewed literature published between 1961 and 2025. Databases, including PubMed and Scopus, were searched using combinations of controlled vocabulary and free-text terms relating to antinuclear antibodies and their clinical significance. The objective was to gather and synthesize information regarding the diagnostic utility and interpretation of ANA testing in routine medical practice. Discussion: The indirect immunofluorescence assay (IIF) on HEp-2 cells is established as the gold standard for detecting ANAs, facilitating the classification of various fluorescent patterns. While a positive ANA test can suggest autoimmune disorders, the presence and titre must be interpreted alongside clinical findings, as low titres often lack diagnostic significance. Findings indicate that titres higher than 1:160 may provide greater specificity in differentiating true positives from false positives in healthy individuals. The study also emphasizes the relevance of fluorescence patterns, with specific patterns linked to particular diseases, although many do not have strong clinical correlations. Moreover, certain autoantibodies demonstrate high specificity for diseases like systemic lupus erythematosus (SLE) and mixed connective tissue disease (MCTD). Ultimately, while ANA testing is invaluable for diagnosing connective tissue diseases, healthcare providers must consider its limitations to avoid misdiagnosis and unnecessary treatment. Conclusions: ANA testing is a valuable tool in the diagnosis of connective tissue diseases, but its interpretation must be approached with caution. Clinical context remains crucial when evaluating ANA results to avoid misdiagnosis and overtreatment. This review is about the diagnostic aspects and clinical consequences of ANA testing, as well as highlighting both the diagnostic benefits and the potential limitations of this procedure in everyday clinical practice. The review fills a gap in the literature by integrating the diagnostic and clinical aspects of ANA testing, with a focus on real-world interpretation challenges. Full article

Background: Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), including granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA), represent a spectrum of systemic disorders characterized by necrotizing inflammation of small- to medium-sized vessels. Nailfold videocapillaroscopy (NVC) is a validated, non-invasive technique routinely employed in the assessment of microvascular involvement in systemic sclerosis and in the differential diagnosis of Raynaud’s phenomenon; its application in the context of AAV, particularly EGPA, has not been investigated yet. The present study aims to assess the presence and the possible pattern of microcirculatory abnormalities detected by NVC in EGPA patients, and to explore potential correlations between capillaroscopic findings and disease activity status. Methods: A total of 29 patients with EGPA (19 women and 10 men), aged between 51 and 73 years, and 29 age- and sex-matched healthy controls were retrospectively enrolled between October 2023 and April 2025, after providing informed consent and meeting the inclusion and exclusion criteria. NVC was conducted in both groups to assess various morphological parameters, and mean capillary density was also calculated. Results: This study observed the presence of capillaroscopic alterations in the EGPA group, including decreased capillary density (38%), neoangiogenesis (72%), rolling (100%), pericapillary stippling (66%), and inverted capillary apex (52%). Overall, when comparing healthy controls with EGPA patients, microcirculatory abnormalities were significantly more prevalent in the latter. Specifically, scores for neoangiogenesis, capillary rolling, pericapillary stippling, and inverted capillary apex showed p-values < 0.001. Conclusions: Our study demonstrates a higher prevalence of four nailfold videocapillaroscopic abnormalities in patients with EGPA compared to healthy controls. However, the identification of these capillaroscopic alterations as specific to EGPA requires further confirmation. Ongoing studies aim to explore the potential role of NVC as a diagnostic marker and to investigate its correlation with the clinical manifestations of EGPA. Full article

Background/Objectives: A food allergy (FA) is an immune-mediated hypersensitivity reaction to specific food. FA reactions vary from mild to life-threatening anaphylaxis. Despite the effectiveness of epinephrine auto-injectors (EAIs), barriers such as lack of knowledge, limited access, and fear of needles hinder their use. This study explores EAI possession among children with parent-reported food allergies in Saudi Arabia. Methods: A cross-sectional study conducted from October 2023 to February 2024 included 296 parents of children with reported food allergies under the age of 18. Data were collected through a validated self-administered questionnaire. Results: Among 2102 respondents, 296 (14.1%) reported having a child with a food allergy. Most respondents were female (70%), with asthma being the most common comorbidity (26%). Common allergens included eggs, tree nuts, peanuts, milk, and sesame. Only 23.3% of children had an EAI. Higher EAI possession was associated with parental education, maternal allergy history, and access to specialist care. Conclusions: EAI possession among Saudi children with food allergies is suboptimal. Targeted educational interventions, increased access to allergists, and comprehensive management plans are essential to improve preparedness for anaphylaxis. Full article

Background/Objectives: Glucocorticoids (GCs) are frequently prescribed to control disease in Rheumatoid Arthritis (RA). However, long-term GC therapy with high daily doses is associated with bone involvement, which is considered the main extra-articular complication of RA. The trabecular bone score (TBS) has proven useful in assessing vertebral trabecular bone quality and fracture risk. To identify whether the long-term treatment of low doses of GCs are associated with low vertebral TBS in RA patients. Methods: A cross-sectional study, including 203 women with RA (ACR, 1987). Clinical, epidemiologic, and therapeutic variables were assessed. We identified the current daily dose, duration, and cumulative dose of GCs. Vertebral bone quality was assessed by TBS. Low vertebral trabecular bone quality was defined as TBS ≤ 1.300. Multivariate logistic regression analyses were used to identify risk factors of low TBS. Results: Prevalence of low TBS in RA women was 52%. RA + low TBS were older (61.9 vs. 55.5, p < 0.001) and had higher prevalence of menopause (90% vs. 75%, p = 0.004), hypertension (50% vs. 34%, p ≤ 0.02), and diabetes mellitus (13% vs. 4%, p = 0.02). There were no associations between GC use, neither doses or cumulative doses, and TBS. Multivariate analyses showed the following: age (OR: 1.05, 95% CI: 1.02–1.08) and the presence of diabetes mellitus (OR: 3.30, 95% CI: 1.03–10.60) were associated with a high risk of low vertebral trabecular bone quality in RA. Conclusions: Half of the RA patients had low trabecular bone quality. Older age and diabetes mellitus are important risk factors for low trabecular bone quality in RA. These findings should give alert to early detection of low TBS, establishing strategies aimed at avoiding the consequences of this complication, including vertebral fractures. Full article

Individuals with immunosuppressive conditions are at a higher risk of developing malignancies than those in the general population. Immunosuppression weakens tumor immunity, hinders the detection of pro-oncogenic cells, and activates oncogenic viruses. Malignancies arising in immunosuppressed patients tend to be aggressive, have a high incidence of virus-associated cancers, and are reversible in some cases. Notably, immunosuppressive agents influence the frequency and type of malignancies, as well as their clinicopathological features. Organ transplant recipients receive long-term immunosuppressants to prevent acute rejection. Post-transplant malignancies vary depending on the type of drug administered before the onset of these diseases. Patients with rheumatoid arthritis (RA) are treated with long-term immunosuppressive medications, such as methotrexate (MTX). MTX is widely recognized as being associated with a specific type of lymphoproliferative disorder (LPD), known as MTX-associated LPD. Our recent report indicated that the clinicopathological features of rheumatoid arthritis-associated lymphoproliferative disorder (RA-LPD) also vary based on the other anti-RA agents used, such as tacrolimus and tumor necrosis factor inhibitors. Therefore, the clinicopathological characteristics of post-transplant LPD and RA-LPD evolve alongside the changes in the immunosuppressants/immunomodulators administered. Understanding the various characteristics and time trends of immunosuppressive neoplasms, particularly LPDs, in relation to different immunosuppressant/immunomodulator medications is highly valuable in clinical practice. Full article

Background: Autoimmune liver diseases (ALDs) are a diverse group of chronic inflammatory disorders. Individuals with a history of one autoimmune disease (AD) are at a substantially increased risk of developing additional autoimmune conditions. Polyautoimmunity has increasingly been recognized as a factor associated with a more complex disease course and poorer long-term outcomes. Methods: This retrospective, cross-sectional observational study reviewed medical records of patients diagnosed with ALDs who had been admitted to the gastroenterology clinic. Results: A total of 457 patients with ALDs were included. Polyautoimmunity was present in 194 patients (42.5%), and multiple autoimmune syndrome (MAS) was diagnosed in 26 of these patients (5.7%). Serological comparisons revealed that antinuclear antibody (ANA) positivity was significantly more common in the polyautoimmunity group. Only 22.2% of the patients with polyautoimmunity were ANA-negative, compared with 52.9% in those without. An ROC curve analysis was conducted to assess the predictive value of clinical and laboratory variables for polyautoimmunity. Among all the tested parameters, ANA positivity (>+2) had the strongest predictive value (AUC: 0.724). A disease duration longer than 6.5 years followed, with a moderate discriminative capacity (AUC: 0.677). Additionally, lower albumin levels (<3.0 g/dL) and elevated erythrocyte sedimentation rates (ESRs) (>29.5 mm/h) were significantly associated with polyautoimmunity. Conclusions: In our cohort, 42.5% of patients had at least one additional autoimmune disorder, highlighting the need for a systemic and comprehensive approach to patient care. Simple and accessible markers—such as ANA titers, disease duration, albumin levels, and ESRs—may help to identify patients at greater risk. Full article

Systemic lupus erythematosus (SLE) is a multisystem auto-immune disease that may affect any organ/system, including the cardiovascular system. Several studies have shown that SLE is associated with an increased risk of cardiovascular disease (CVD), even though most of the patients who have lupus are young women. In this review, we present that apart from the traditional risk factors, there are more appropriate SLE-related indices such as imaging parameters, auto-antibodies, disease manifestations, medications, and genetic factors that might represent useful tools to create an algorithm for early identification of SLE patients at increased risk of CVD. Early recognition and appropriate treatment of patients at increased CVD risk might reduce morbidity/mortality and improve the quality of life of patients with SLE. Full article

Background: Women with systemic autoimmune rheumatic disease (SARD) are at higher risk of developing infection-related complications, anxiety, and depression. Using the example of the COVID-19 pandemic, we aimed to explore the impact of this external stressor on symptoms of depression, anxiety, and stress in a sample of women with SARD in a cross-sectional study design. Methods: Females aged 18–50 with SARD were enrolled from 04/2021 to 04/2022 at the Medical University of Vienna or through an online self-help group, while snowball sampling was used to recruit an age-matched healthy control group. Participants completed questionnaires including: (1) demographic information, medical history, and access to healthcare; (2) the Depression, Anxiety, and Stress Scale (DASS-21); and (3) the Coronavirus Anxiety Scale (CAS). Parameters were compared between groups using Chi-squared, Fisher’s exact, and Mann–Whitney U tests. Linear regression analysis was used to investigate which individual factors predicted the DASS-21 in women with SARD. Results: The study sample consisted of 226 women (n = 99 with SARD and n = 127 healthy controls). Women with SARD reported lower DASS-21 stress (p = 0.008) and CAS scores (p = 0.057) than the control group. There were no significant differences in DASS-21 anxiety or depression scores. Among women with SARD, a linear regression model identified the most important predictors of DASS-21 as access to rheumatological care (p = 0.002) and recent disease activity (p = 0.028). Conclusions: Despite the pandemic, women with SARD reported mental health outcomes equal to or better than those of the healthy control group. Continued access to rheumatological care may serve as an important protective factor for their mental health during large-scale crises like pandemics. Full article

Background: The European League Against Rheumatism (EULAR), in collaboration with the European Scleroderma Trial and Research group (EUSTAR), published the first set of treatment recommendations for systemic sclerosis (SSc) in 2009, with subsequent updates in 2016 and 2023. Objectives: This study aimed to evaluate how rheumatologists’ clinical approaches to the treatment of SSc evolved following the 2016 update of the clinical management guidelines. Methods: Medication use for SSc was analyzed in a cohort of 378 patients. The patients were stratified based on enrollment before (233 patients) and after (145 patients) the guideline update, and medication usage was compared between the two groups. Results: Although all patients presented with Raynaud’s phenomenon (RP), only 35% received calcium channel blockers. Medications such as iloprost, phosphodiesterase type 5 (PDE-5) inhibitors, fluoxetine, and bosentan, recommended for the treatment of RP and digital ulcers, were not approved for SSc by the Republic Health Insurance Fund. Treatment for pulmonary arterial hypertension (PAH) was administered to only 16 patients (4.2%), including 2 who received bosentan, 10 who received PDE-5 inhibitors, and 4 who were treated with riociguat. The use of PDE-5 inhibitors increased following the 2016 update of the guidelines. Cyclophosphamide was consistently prescribed for interstitial lung disease (ILD), with an increased frequency observed after the guideline update. No significant differences were observed in the use of methotrexate for skin involvement, ACE inhibitors for scleroderma renal crisis, or antibiotics for gastrointestinal symptoms. Proton pump inhibitors (PPIs) were prescribed to 87.3% of patients with gastrointestinal involvement, with an increase in use of both PPIs and prokinetic agents following the guideline update. Conclusions: Rheumatologists’ adherence to the EULAR/EUSTAR guidelines varied considerably, with 25% to 100% of eligible patients receiving the recommended treatments. Concordance improved in the management of PAH, ILD, and gastrointestinal involvement after the 2016 guideline update. Full article

Introduction: Synovitis and damage to natural stabilizers of many axial and peripheral joints make patients with rheumatoid arthritis particularly susceptible to sagittal balance disorders of the axial skeleton. This may determine the high individual variability of cervical spine deformities as well as differences in the rate of development of disease symptoms in these patients, such as radiculopathy and myelopathy. Methods: In the scientific literature, in addition to systemic factors, more and more attention is paid to work on biomechanical factors in the development of cervical spine instability. One of the methods for assessing the influence of biomechanical factors, which can also be used in everyday practice, is the analysis of radiological parameters of sagittal balance. Results: Among the selected sagittal balance parameters studied, a statistical relationship between C4 and C5 distance and the OI parameter has been found, indicating a relationship to a parameter that remains constant throughout an individual’s life in the group of patients with disease duration over 20 years. Conclusions: The development of instability and deformity in the subaxial segment of the cervical spine in patients with rheumatoid arthritis may be the result of insufficiently understood components of biomechanical factors; hence, further research in this field is necessary. Full article