Presence Of Antinuclear Antibodies Research Articles

The Expression Levels of TREX1 and IFN-α Are Associated with Immune Reconstitution in HIV-1-Infected Individuals.

TREX1 acts in the initial prevention of an autoimmune response, but it may contribute to the permissiveness of retrovirus infections. This study investigated the association between the levels of TREX1 gene expression with the polymorphisms TREX1 rs3135941 (T/C) and TREX1 rs3135945 (G/A), and the presence of antinuclear antibodies (ANA) in antiretroviral therapy (ART)-naïve individuals and after 1 year of treatment. Blood samples from 119 individuals with HIV-1 were subjected to genotyping of polymorphisms and quantification of TREX1 gene expression and HIV-1 viral load by qPCR. The concentration of IFN-α and the number of CD4+/CD8+ T lymphocytes were determined by ELISA and flow cytometry, respectively; ANA was investigated by immunofluorescence. A control group of 167 seronegative individuals was used for the comparison of genotypic frequencies. The frequency of the polymorphisms were not associated with HIV infection or with variations in the expression of TREX1 and IFN-α (p > 0.05). ART-naïve individuals exhibited higher TREX1 expression and lower IFN-α expression. After 1 year of ART, TREX1 levels were reduced, while IFN-α and CD4+ T lymphocytes were elevated (p < 0.05). Some individuals on ART presented ANA. These results suggest that ART-mediated restoration of immune competence is associated with a reduction in TREX1 expression, which may induce the development of ANA, regardless of the polymorphism investigated.

Effect of antinuclear antibody positivity on antineutrophil cytoplasmic antibody results by indirect immunofluorescence assay.

The indirect immunofluorescence assay (IIFA) utilizing antineutrophil cytoplasmic antibodies (ANCA) is widely used as a diagnostic test for autoimmune vasculitis. The presence of antinuclear antibodies (ANA) might lead to a misleading interpretation of ANCA. This study aims to explore the impact of the presence of ANA on the interpretation of ANCA. This retrospective research examined samples negative for antiMPO and antiPR3 ANCA by IIFA and explored correlations between the ANA-IIFA results and the ANCA interpretation frequencies. Our analysis involved the use of suitable statistical methods, including Chi-square and kappa statistics. Up to 75.2% of the ANCA-IIFA-positive samples exhibited a positive p-ANCA pattern when using the ethanol-fixed substrate, with c-ANCA positivity at 24.8%. In the ANA-IIFA-positive samples, ~77.3% displayed p-ANCA patterns on ethanol-fixed substrates. A comparison between the ANA-IIFA titers and the p-ANCA results revealed that p-ANCA positivity was notably more common in samples with higher titers, and this correlation was found to be statistically significant. Positive ANA results by IIFA tests are linked to a higher incidence of p-ANCA interpretation, particularly in cases with higher titer patterns. This insight aids laboratories in establishing effective workflows to investigate potential p-ANCA interference.

Serum markers for detecting histological features of autoimmune hepatitis and predicting prognosis in patients with antinuclear antibody‐positive drug‐induced liver injury

AbstractAimsAlthough useful for distinguishing drug‐induced liver injury (DILI) from autoimmune hepatitis (AIH), liver biopsy is an invasive examination, and the presence of antinuclear antibody (ANA) positivity in patients with DILI could lead to excessive use of biopsy. Hence, we aimed to identify screening markers for histological features of AIH in patients with ANA‐positive DILI and verify their clinical outcomes after 1 year.MethodsThis retrospective study included patients with ANA‐positive DILI, who underwent liver biopsy between January 2017 and April 2022. Two pathologists identified histological features of AIH. We detected the independent indicators associated with histological features of AIH using logistic regression. We evaluated their diagnostic ability for histological features of AIH using the receiver operating characteristic curve. The follow‐up period to determine clinical outcomes was 1 year after DILI onset. The χ2 test or Fisher's exact test was used to compare categorical data and the Wilcoxon rank‐sum test was used to compare continuous variables. Two‐sided p &lt; 0.05 was considered to indicate significance.ResultsThe final analysis included 125 patients with ANA‐positive DILI, of whom 18 had AIH‐like histology. Factors independently associated with AIH‐like histology included globulin levels (odds ratio [OR] = 1.154, 95% confidence interval [CI] = 1.046–1.288; p = 0.006) and ANA titer ≥ 1:1000 (OR = 3.531, 95% CI = 1.136–11.303; p = 0.029). The optimal globulin cutoff indicating AIH‐like histology was 31.8 g/L. This globulin level in combination with ANA titer ≥ 1:1000 (area under the curve = 0.785, 95% CI = 0.738–0.832) provided a sensitivity of 100% and a specificity of 57% for indicating histological features of AIH in patients with ANA‐positive DILI. During follow‐up, more patients developed AIH in the group with AIH‐like histology than in the group without AIH‐like histology (35.3% vs. 0, p &lt; 0.001).ConclusionsFor patients with ANA‐positive DILI and ANA titer ≥ 1:1000 or globulin ≥ 31.8 g/L, liver biopsy is recommended to determine the presence of histological features of AIH and guide further monitoring.

Antisynthetase syndrome: a case report and review of the literature.

antisynthetase syndrome is a rare autoimmune disease characterized byinterstitial lung disease, non-erosive arthritis, myositis, Raynaud&amp;#39;s disease, and/or &amp;quot;mechanichand&amp;quot; when autoantibodies directed against aminoacyl-tRNA synthetases are detected.Antisynthetase syndrome belongs to the group of idiopathic inflammatory myopathies and isthe so-called overlap myositis. The article provides the latest literature data on the diagnosticvalue of myositis-specific autoantibodies based on a literature review for the period from2013 to 2023 using the scientometric databases MEDLINE/ PubMed, Wiley Online Library,and Scopus. Data from the literature show that certain myositis-specific autoantibodies,namely anti-PL-7 and anti-PL-12, can affect the risk of developing interstitial lung disease,and determine the course and prognosis of the disease. The presence of interstitial lungdisease in patients with myositis correlates with increased morbidity and mortality. Thearticle describes a clinical case of the debut of the antisynthetase syndrome from interstitiallung disease, which was falsely diagnosed as a coronavirus disease. The patient&amp;#39;s condition&#x0D; improved only because of using glucocorticoids, which the patient stopped taking over time,which led to the worsening of pulmonary symptoms, the appearance of new clinical signs ofdamage to the joints and skin, progressive decrease in muscle function, and dysphagia. Afteran examination in the rheumatology department, based on the presence of interstitial lungdisease in the patient - fibrotic alveolitis, which was confirmed by computer tomography,myositis, arthritis, characteristic skin changes, the presence of antinuclear antibodies, anti-SS-A/Ro52, specific antisynthetase antibodies (Jo-1, Pl-7, Pl-12), the diagnosis of theantisynthetase syndrome was established. A detailed laboratory and instrumental examinationmade it possible to rule out a paraneoplastic process at the time of examination. Theprescribed treatment included pulse therapy with methylprednisolone and cyclophosphamide,which led to improvement in the patient&amp;#39;s condition. The work carried out emphasizes theneed for interdisciplinary interaction of pulmonologists, rheumatologists, and infectiousdisease specialists at the stage of verification of the final diagnosis and the therapyappointment. Achieving clinical and laboratory remission of the disease requires long-termmonitoring by a rheumatologist.

КЛИНИКО-ДИАГНОСТИЧЕСКОЕ ЗНАЧЕНИЕ АНТИНУКЛЕАРНЫХ АНТИТЕЛ В ПРАКТИКЕ ПЕДИАТРА (ЧАСТЬ 3)

Antinuclear antibodies (ANA), first discovered many decades ago in patients with systemic lupus erythematosus (SLE), still remain a diagnostic criterion for this disease. However, subsequent studies have shown that the range of diseases in which ANA are detected is extremely wide and includes not only systemic rheumatic diseases, but also other autoimmune diseases (AD), including autoimmune cytopenias, autoimmune liver diseases, gastrointestinal diseases, autoimmune pathology of the thyroid gland and other endocrine glands, autoimmune skin diseases etc. The low specificity of ANA determines their relatively low diagnostic value, which increases when taking into account the luminescence pattern, indicating the presence of certain autoABs. The presence of ANA in patients with AD has a certain prognostic significance since in a number of diseases it is associated with their clinical features and the nature of the process as well as the expected response to the treatment with various drugs. Due to the fact that various AD are often combined in patients, the detection of ANA may be a reason for expanding the examination aiming to diagnose them in a timely manner. See Part 2 at N.S. Podchernyaeva, M.K. Osminina, E.V. Frolkova, M.A. Kudryashova, M.R. Gripp, N.Yu. Golovanov. Clinical and diagnostic value of antinuclear antibodies in a pediatric physician’s practice (Part 2). Pediatria n.a. G.N. Speransky. 2023; 102 (2): 78-89. DOI: 10.24110/0031-403X-2023-102-2-78-89, and Part 1 at N.S. Podchernyaeva, L.G. Khachatryan, M.K. Osminina, E.V. Frolkova, M.A. Kudryashova. Clinical diagnostic value of antinuclear antibodies in pediatric practice (part I). Pediatria n.a. G.N. Speransky. 2022; 101 (3): 185-198. - DOI: 10.24110/0031-403X-2022-101-3-185-198.

Evaluation of autoantibody profile in healthy subjects after mRNA vaccination against COVID-19.

SARS-CoV-2 severe acute respiratory syndrome has rapidly spread worldwide since 2019. All scientific and technological forces have concentrated towards the formulation of vaccines to contain the disease. In less than one year (December 2020) a first messenger RNA vaccine (Comirnaty, BioNTech/Pfizer) was authorized. However, the research community has wondered about possible side effects on the immune system, given the vaccines administration in phase 4. This study aims to evaluate the mRNA vaccine impact on the development of possible positive autoantibody profile in healthcare workers without any previous underlying pathology, after first, second and booster dose of Pfizer vaccine, by determining: circulating immune complexes concentrations (CIC); anti-myeloperoxidase (MPO) and anti-proteinase 3 (PR3) autoantibodies, the presence of antinuclear antibodies (ANA) and subsequent second level tests (extractable nuclear antigen (ENA) screen, double-strand DNA, extractable nuclear antigen (ANA) profile). The subjects were divided according to anti-SARS-CoV-2 IgG RBD antibodies increasing concentrations in: Group I<10 BAU/ml (N=114); Group II>1000 BAU/ml (N=112); Group III>2500 BAU/ml (N=78). Our data show no autoreactive response changes over time in healthy subjects after vaccination. In fact, evaluation of ANA, CIC, anti-MPO, anti-PR3 and the detection of specific autoantigens, did not display significant variations. The results suggest the exclusion of a correlation between the administration of the vaccine and the possible onset of autoimmune disorders. Nevertheless, further investigations will be needed to test for any long-term side effects on an ever-growing population.

Rheumatic manifestations of hepatitis C virus infection are associated with autoantibodies but not viremia.

To investigate the associations between extrahepatic manifestations, autoantibodies, and viremia in patients with hepatitis C virus (HCV) infection. This cross-sectional study recruited patients with HCV infection from the outpatient department of a tertiary medical center in Northern Taiwan between January 2017 and August 2019. Autoantibody profiles and the clinical parameters of HCV infection were evaluated using laboratory tests, and a questionnaire was used to record extrahepatic manifestations. HCV infection status, including inactive HCV infection, active hepatitis, and cirrhosis, was defined according to abdominal ultrasonography findings and alanine transaminase levels. A total of 77 patients with HCV were recruited, with 19.5% and 16.9% of patients, respectively, presenting with arthritis and dry eyes. Autoantibody screening revealed rheumatoid factor (RF), antinuclear antibody (ANA), anti-Ro antibody, and anti-La antibody positivity in 20.8%, 23.4%, 13.0%, and 2.6% of the patients, respectively. The presence of RF was associated with arthritis, whereas the presence of ANA was associated with dry eyes but not dry mouth. Active hepatitis and HCV-related cirrhosis were associated with viremia, but not autoantibody profiles. In this single-center study, the prevalence of extrahepatic manifestations and autoantibodies did not differ in patients stratified by the HCV infection status. Rheumatic manifestations were associated with the presence of autoantibodies but not with viremia.

Antinuclear Antibody Seropositivity in Fibromyalgia Associated with Borrelia-specific T Lymphocytes.

Our group have recently reported that there is no evidence of an association between fibromyalgia and Borrelia-specific T lymphocytes. However, a small number of case reports has suggested that infection by the bacterial genus Borrelia may be associated with the presence of antinuclear antibodies (ANAs). To test the hypothesis that those fibromyalgia patients who are ANA seropositive are more likely to show evidence of Borrelia-specific T lymphocyte reactivity than those who are seronegative. T lymphocyte reactivity to Borrelia burgdorferi sensu stricto (full antigen) was assessed using the enzyme-linked immunospot and serum ANA status was assessed using immunofluorescence in 27 fibromyalgia patients fulfilling the revised diagnostic criteria of the American College of Rheumatology. The ANA seropositive and seronegative groups were matched for age, sex and ethnicity; the T lymphocyte reactivity to Borrelia burgdorferi sensu stricto (full antigen) in the former group (mean 5.60) was significantly higher than that in the seronegative group (mean 1.77; p < 0.05). This novel study points to an association of ANA seropositivity in fibromyalgia with Borrelia-specific T lymphocytes.

Cardiovascular Alterations Present in Systemic Lupus Erythematosus: Review of the Literature

Systemic lupus erythematosus (SLE) is a systemic inflammatory disease secondary to an autoimmune response that is characterized by the deposition of immune complexes that activate complement and cause tissue damage. The American College of Rheumatology (ACR, American College of Rheumatology) in 2012 established the new diagnostic criteria for SLE, identifying 17 criteria of which at least 4 must be met (at least one clinical, and one immunologic) or lupus nephritis as the sole criterion in the presence of antinuclear antibody (ANA) or double-stranded anti-DNA for diagnosis.1

DIAGNOSTIC DILEMMA IN TYPHOID ENCEPHALOPATHY

Using the immune system to its advantage, Salmonella Typhi initially invades the gut followed by the reticuloendothelial system and nally the nervous system, involvement of which usually occurs around the second week of fever. In developing countries, delayed diagnosis is predominantly due to hesitation in seeking treatment. Our subject presented with fever since one week, altered mentation, headache and neck pain; she was diagnosed with enteric fever. Although her neurological abnormality could be a complication of the infection, it appeared when she became afebrile- hence we evaluated her for autoimmune conditions. Positive results hinted at autoimmune encephalitis triggered by the infection; further studies were inconclusive. Association of enteric fever with autoimmune encephalitis has not been reported. Three months later, presence of antinuclear antibodies (ANA) was rechecked- a negative report led to a retrospective diagnosis of transient ANA positivity in a nonautoimmune inammatory disease, the case in point being enteric fever.

ESTIMATION AND TO KNOW THE ASSOCIATION OF AUTOANTIBODIES WITH DERMATOLOGICAL DISORDERS IN PATIENTS ATTENDING DERMATOLOGY OUTPATIENT DEPARTMENT

Background: The presence of antinuclear antibodies (ANA) is mainly associated with autoimmune diseases and connective tissue diseases (CTD). In addition, their presence is found in healthy people. While the actual frequency of positive assays in healthy individuals varies with methodology, nevertheless, up to 20% or more of otherwise healthy people can express an ANA. The basis of this seropositivity is puzzling. One possibility is that ANAreactivity represents vagaries of the assays, allowing the detection of antibodies of either low titer or low avidity. ANAand Anti double-stranded DNA (Anti-ds-DNA) antibodies in dermatological disorders other than CTD, and Vasculitis were not studied till now to our knowledge. Hence this study has been taken up. Aim: Estimation and to know the association, of autoantibodies with dermatological disorders, to better understand the diseases in patients attending the dermatology outpatient department (OPD). Objectives: 1. To nd out the percentage of positivity for ANAby the Indirect Immunouorescent Assay (IFA) method. 2. To nd out the percentage of positivity for anti-ds DNAantibodies by the Enzyme-Linked Immunosorbent Assay (ELISA) method. 3. Percentage of positivity of both ANAand Anti-ds DNAantibodies in patients with dermatological problems. 4. To know the association of autoimmunity with various dermatological disorders for a better understanding of these disorders. Materials &amp; Methods: Ahundred patients were selected after taking written informed consent and after inclusion and exclusion criteria got fullled. Details of the patients were entered in the case record form and later were uploaded in a Microsoft excel sheet. One millilitre of the venous blood sample was drawn in adults of each of the age categories 18-27, 28-37, 38-47, and 48-57. The upper age limit of 57 is selected for the sake of convenience. Sera were analysed for ANAand Anti ds DNAantibodies by using IFAand ELISAmethods respectively. Results were recorded and analysed. Results: In a total of 100 patients 11% and 13% were positive for ANA and Anti ds DNA respectively. For ANA and Anti ds DNA positivity the mean age was 34.5 ± 12.5 and 40.7 ± 10.7 respectively and females outnumbered males in both. Both ANAand Anti ds DNAwere positive in 3% of which all were females with a mean age of 41 ± 9. ANA positivity was found commonly in Telogen efuvium (3), melasma (2), and Tinea (2). Anti-ds DNA positivity was found commonly in Miliaria Rubra (2), and Tinea (2). Both ANAand Anti ds DNA were positive in telogen efuvium, melasma and tinea. Conclusion:ANA, Anti ds DNA, both ANAand Anti ds DNAwere positive in otherwise healthy dermatological patients with diagnoses like telogen efuvium, melasma, tinea, miliaria etc., to the extent of 11%, 13%, and 3% respectively. It is not known if autoantibody positivity in these diseases is just a chance association or if the autoimmune mechanism got triggered by these diseases. Prospective longitudinal studies are necessary to conrm these nding

The Role of B Cell and T Cell Glycosylation in Systemic Lupus Erythematosus

Glycosylation is a post-translational modification that affects the stability, structure, antigenicity and charge of proteins. In the immune system, glycosylation is involved in the regulation of ligand-receptor interactions, such as in B-cell and T-cell activating receptors. Alterations in glycosylation have been described in several autoimmune diseases, such as systemic lupus erythematosus (SLE), in which alterations have been found mainly in the glycosylation of B lymphocytes, T lymphocytes and immunoglobulins. In immunoglobulin G of lupus patients, a decrease in galactosylation, sialylation, and nucleotide fucose, as well as an increase in the N-acetylglucosamine bisector, are observed. These changes in glycoisolation affect the interactions of immunoglobulins with Fc receptors and are associated with pericarditis, proteinuria, nephritis, and the presence of antinuclear antibodies. In T cells, alterations have been described in the glycosylation of receptors involved in activation, such as the T cell receptor; these changes affect the affinity with their ligands and modulate the binding to endogenous lectins such as galectins. In T cells from lupus patients, a decrease in galectin 1 binding is observed, which could favor activation and reduce apoptosis. Furthermore, these alterations in glycosylation correlate with disease activity and clinical manifestations, and thus have potential use as biomarkers. In this review, we summarize findings on glycosylation alterations in SLE and how they relate to immune system defects and their clinical manifestations.

Frequency and Clinical Significance of Antinuclear Antibody Positivity in Immune Thrombocytopenia in Adults

Background Immune thrombocytopenia is an immune-mediated disorder with heterogenous presentation. It shows association with other autoimmune disorders with varying frequency. Objective The objective of this study was to establish the frequency of antinuclear antibody (ANA) in our population and to evaluate its association with severity of clinical presentation, disease remission and association with other autoimmune diseases. Design Cross-sectional study. Methods This was a descriptive cross-sectional study that included 160 patients with immune thrombocytopenia purpura (ITP) presented at National Institute of Blood Disease and Bone Marrow Transplantation from February 2021 to July 2022. Patients were screened for ANA and other causes of secondary ITP. ANA-positive patients were compared with ANA-negative patients in terms of bleeding manifestations and platelet counts at initial presentation, association with other autoimmune diseases and response to first-line treatment. Results In our study 43 (26.9%) patients were ANA positive and 117 (73.1%) were negative for ANA. The initial platelet counts, and bleeding symptoms were not found to be significantly different among the 2 groups. And 79.1% of the ANA-positive patients had other autoimmune markers as well compared to 20.9% ANA-negative patients, showing a significant association ( P&lt;.001). Response to treatment with steroid ± azathioprine assessed at 3 and 6 months were similar in both the groups. Conclusion Our results demonstrate that ANA positivity is not associated with severity of presenting symptoms, initial platelet counts, or response to treatment. However, the presence of ANA is associated with increased risk of other autoimmune diseases in patients with ITP.

Presence of anti-nuclear antibody associated with worse clinical outcomes of anti-NMDAR encephalitis.

PurposeSystemic autoantibodies are important for the diagnosis of autoimmune diseases, but their roles in anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis are unknown. The purpose of our study is to investigate the characteristics and a prognosis of anti-NMDAR encephalitis with the prevalence of autoantibodies.MethodsSystemic autoantibodies were evaluated in 64 patients with anti-NMDAR encephalitis and 14 patients with autoimmune encephalitis with other forms. Then, according to systemic autoantibodies, patients with anti-NMDAR encephalitis were divided into an anti-nuclear antibody (ANA) positive group and an ANA negative group. The clinical outcome was assessed by a modified Rankin score at 12 months after the disease onset.ResultsA total of 64 patients with anti-NMDAR encephalitis were enrolled, of which 28.13% (18/64) were positive for ANA. The titers of a positive anti-NMDAR antibody in CSF (p = 0.041) and serum (p = 0.031) in the ANA-positive group were significantly higher than the ANA-negative group. Patients with ANA positive than those with ANA negative showed lower rates of headache (p = 0.047) and speech disorder (p = 0.049). The presence of ANA was associated with a worse clinical outcome at 12 months (p = 0.043).ConclusionANA was prevalent in patients with anti-NMDAR encephalitis, and associated with a worse prognosis and impaired neurological recovery.

30 Oligoarticular juvenile idiopathic arthritis-associated uveitis

BackgroundOligoarticular juvenile idiopathic arthritis (JIA) is a rare inflammatory disease that occur in children under the age of 16. JIA associated uveitis is the most frequent extra-articular manifestation. The uveitis can be sight-threatening and may be burdened with disabling morbidity. The uveitis seen in JIA is chronic anterior uveitis which is always asymptomatic in the initial stages.AimThe purpose of our survey is to report the incidence of uveitis in oligoarticular JIA and to determine the potential risk factors for the occurrence of uveitis in children with oligoarticular JIA.ResultsWe retrospectively evaluated 70 consecutive pediatric patients with oligoarticular JIA in the emergency and outpatient paediatric departement at the children's hospital in Tunisia between January 2005 and December 2021. A total of 12 cases (17.1%) with oligoarticular JIA associated uveitis where identified. The incidence of uveitis in these children was 0.7 cases per year.The uveitis had occurred before the joint manifestations in only one patient. The average time between the onset of symptoms and the occurrence of uveitis was 1.7 years with a maximum time interval of 5 years. Management of JIA-associated uveitis involved use of topical agents in half of our patients and systemic agents in the other half.JIA-associated uveitis has led to ocular complications such as cataracts (n = 5), glaucoma (n = 6), anterior/posterior synechiae (n = 8), and ultimately a visual impairment and blindness (n = 1). Eleven of the twelve patients with uveitis retained acceptable visual acuity.The presence of antinuclear antibody (ANA) has been identified as a risk factor for the occurrence of uveitis (p = 0.03).ConclusionCollateral damage of oligoarticular JIA include growth failure, muscle atrophy and intraocular damage. The main challenge during the management of oligoarticular JIA is the early detection of uveitis. Close cooperation between the rheumatologist and the ophthalmologist is essential to optimize outcome.

33 Oligoarticular juvenile idiopathic arthritis-associated uveitis

BackgroundOligoarticular juvenile idiopathic arthritis (JIA) is a rare inflammatory disease that occur in children under the age of 16. JIA associated uveitis is the most frequent extra-articular manifestation. The uveitis can be sight-threatening and may be associated with disabling morbidity. The uveitis seen in JIA is chronic anterior uveitis which is always asymptomatic in the initial stage.ObjectiveTo report the incidence of uveitis in oligoarticular JIA and to determine the potential risk factors for the occurrence of uveitis in children with oligoarticular JIA.ResultsWe retrospectively evaluated 95 consecutive pediatric patients with oligoarticular JIA in the paediatric emergency and outpatient department of the children's hospital in Tunisia between January 2005 and December 2021. 70 patients were included in this study. A total of 12 cases (17.1%) with oligoarticular JIA associated uveitis where identified. The incidence of uveitis in these children was 0.7 cases per year.The uveitis had occurred before the joint manifestations in only one patient. The average time between the onset of symptoms and the occurrence of uveitis was 1.7 years with a maximum time interval of 5 years. Management of JIA-associated uveitis involved use of topical agents in half of our patients and systemic agents in the other half.JIA-associated uveitis has led to ocular complications such as cataracts (n = 5), glaucoma (n = 6), anterior/posterior synechiae (n = 8), and ultimately a visual impairment and blindness (n = 1). Eleven of the twelve patients with uveitis had acceptable visual acuity. The presence of antinuclear antibody (ANA) was identified as a risk factor for the occurrence of uveitis (p = 0.03).ConclusionCollateral damage of oligoarticular JIA include growth failure, muscle atrophy and intraocular damage. The main challenge during the management of oligoarticular JIA is the early detection of uveitis. Multidisciplinary management by the rheumatologist and the ophthalmologist is essential to optimize outcome.

Preexisting Autoantibodies and Immune Related Adverse Events in Metastatic Urothelial Carcinoma Patients Treated by Pembrolizumab.

Immune checkpoint inhibitor are standard therapy in metastatic urothelial carcinoma. No predictive biomarker of immune related adverse events (iRAE) exists. Antinuclear antibodies (ANA) can be the sign of a subclinical autoimmune condition that could be enhanced by Immune checkpoint inhibitor. We decided to assess the predictive value of baseline autoantibodies and ANA for iRAE in metastatic urothelial carcinoma patients treated with pembrolizumab and explore their prognostic signification. Data concerning patients treated in our institution between 2015 and 2020 with pembrolizumab for metastatic urothelial carcinoma with available baseline value of ANA and other autoantibodies was collected. ANA with titer >1/80 were defined positive. A total of 68 patients were included. Fifty-five (80%) had ANA >1/80 and among them 21 patients (30%) had ANA >1/160. Seven patients with ANA >160 (33%) presented iRAE vs. 5 patients (10%) in the rest of the population. Presence of ANA >160 was significantly associated with iRAE (P=.029) and limiting toxicity (P=.048) in univariate analysis. iRAE tend to occur earlier, before the third cycle, for patients with ANA >1/160 as compared to rest of the patients (28% vs. 6%, P=.052). Exploratory analysis did not reveal correlation between progression free survival or overall survival and ANA >1/160 in univariate or in multivariate analysis including the Bellmunt score (HR=0.7, 95%CI [0.38-1.35], P=.5). The presence of ANA >1/160 is associated with iRAE and limiting toxicity of pembrolizumab.

Factors associated with asymptomatic vertebral fractures in patients with rheumatoid arthritis in a rheumatology service in Bogotá (Colombia)

IntroductionIn patients with rheumatoid arthritis (RA), osteoporotic vertebral fractures (OVF) are of multifactorial etiology. The main mechanism is spontaneous and therefore most are asymptomatic. The presence of VF has an impact on the quality of life of patients, and consequently on morbidity and mortality, therefore it should be systematically evaluated in this population, especially when associated factors have been reported. The main objective of this study was to identify clinical characteristics for osteoporosis and poor prognosis in rheumatoid arthritis that could be associated with the development of osteoporotic vertebral fractures identified in the lateral chest X-ray of asymptomatic patients with RA. The secondary objectives were to present the frequency, location, and severity of the fractures, as well as the inter and intra-observer correlation, when analyzing the radiographs. MethodologyPatients with a diagnosis of RA were included, with a lateral chest X-ray and indication dissimilar to spinal symptoms. The mean age was 58 years (IQR 21–88). Three researchers evaluated 151 images in a sequenced and standardized manner using the Algorithm-Base Qualitative approach (ABQ) and Genant methods. Variables associated with the presence of osteoporosis and poor prognosis in RA were identified. Subsequently, a multivariate analysis was carried out to find an association with the presence of VF in this population. ResultsWe found 39 fractures in 32/151 patients. Identifying multiple fractures in 5 of them. The prevalence of osteoporotic vertebral fractures was 21.2%. The distribution of fractures was mainly at the level of T5, T8 and T9, with a predominance of Genant grade 1 in 46%. In the multivariate analysis, age, duration of RA (mainly greater than 10 years), rheumatoid factor, anti-citrullinated peptide antibodies, DAS28, HAQ, presence of antinuclear antibodies (ANA), smoking and being under treatment for osteoporosis showed a statistically significant association. The interobserver correlation for the ABQ and Genant methods presented a kappa index of .9 and .92, respectively. ConclusionIn patients with RA there is a significant association with the development of VF, independent of the presence of osteoporosis. Furthermore, this research suggests that the presence of some clinical and paraclinical characteristics could be associated with the prevalence of osteoporotic vertebral fractures. Age, duration of arthritis, poor prognostic markers for RA in terms of serology and functionality, as well as being in treatment for osteoporosis had statistical significance of association. This should guide the timely detection of fractures, independent of symptoms, with the respective targeted treatment in this population and thus avoid functional complications and a decrease in quality of life.

Autoantibodies in Wilson disease: Impact on clinical course.

Symptoms of Wilson disease (WD) vary and additional factors such as autoimmunity may play an important role in WD pathogenesis. The presence of antinuclear antibodies (ANA), anti‐neutrophil cytoplasmic antibodies, neuronal surface antibodies, and onconeural antibodies in WD was investigated using standardized indirect immunofluorescence assays and Western Blot analysis. The presence of all studied autoantibodies was higher in WD patients in comparison to healthy subjects, but there was no statistically significant difference in autoantibodies frequency according to disease manifestation. D‐penicillamine treatment was associated with a higher presence of ANA than zinc sulfate but without an increase in autoimmune diseases rate.

Dynamics of DNA damage response markers, RAD51 and XRCC1, throughout the menstrual cycle and pregnancy in healthy women. Increment during pregnancy and relation to a low titer of antinuclear antibodies.

Antinuclear antibodies (ANA) potentially play a role in the pathogenesis of connective tissue diseases (CTDs); however, they are also detected in healthy individuals. Our understanding of the physiological and pathological origin of ANA is incomplete. Both; female reproductive processes and deficiencies in DNA damage response (DDR) have been independently associated with ANA production. However, the link between these two factors and the presence of ANA is unclear METHOD OF STUDY: A cohort study was conducted on 87 non-pregnant and 51 healthy pregnant women. ANA and the DDR markers X-ray repair cross-complementing 1 (XRCC1) and recombinase (RAD51) were quantified in sera by enzyme-linked immunosorbent assay. Additionally, ANA was detected by indirect immunofluorescence in HEp-2 cells in 1:40 diluted sera during the three phases of the menstrual cycle in non-pregnant women and every trimester in pregnant women RESULTS: The prevalence of ANA+ in healthy women was 26.1%, with no significant differences between pregnant and non-pregnant women. ANA and DDR marker levels did not vary among the three phases of the menstrual cycle or the three trimesters of pregnancy. However, DDR marker levels were higher in pregnant women than in non-pregnant women (p&lt;.001) and were found to be higher in ANA+ women (XRCC1, p=.025; RAD51, p=.006) CONCLUSIONS: The menstrual cycle and pregnancy did not influence the levels of DDR markers or ANA in healthy women; however, the DDR was higher in pregnancy and ANA+ women. The results suggest a potential role of DDR in the pathophysiology of ANA.