scholarly journals Relationships among Antibodies against Extractable Nuclear Antigens, Antinuclear Antibodies, and Autoimmune Diseases in a Brazilian Public Hospital

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Fernanda Weyand Banhuk ◽  
Bruna Corrêa Pahim ◽  
Alex Sandro Jorge ◽  
Rafael Andrade Menolli
Keyword(s):  
Autoimmune Diseases ◽  
Lupus Erythematosus ◽  
Medical Records ◽  
Public Hospital ◽  
Antinuclear Antibodies ◽  
Test Results ◽  
Common Pattern ◽  
Negative Results ◽  
Nuclear Antigens ◽  
Different Types

One characteristic of autoimmune diseases (ADs) is the production of autoantibodies for extractable nuclear autoantigens, which may aid in the discrimination of the different types of autoimmune diseases and is related to different antinuclear antibody (ANA) patterns. The present study verified the profile of patient samples tested for extractable nuclear antigens (ENA) antibodies in a public hospital and correlated the ENA results with ANA patterns and patient diagnoses. The study reviewed data in the medical records of patients who underwent anti-ENA tests at a public hospital in the West of the State of Paraná from February 2011 to January 2017. Patients were classified according to age, ethnicity, gender, anti-ENA test results, ANA results, and the presence or absence of AD. Thirty-six (20.9%) samples of the 172 anti-ENA tests were positive, seven (4.1%) samples were undetermined, and 129 (75%) exhibited negative results. The ANA reagent was found in 84.3% of the anti-ENA-positive samples. The anti-SSA/Ro autoantibody exhibited the highest frequency in the group, 41.7% (15/36). The most common pattern was nuclear fine speckled, which was found in 24.3% of the samples. The association results indicated a significant relationship between ANA titer and diagnosis in the anti-ENA- and ANA-positive patients. The anti-ENA-negative patients were diagnosed with an AD in 35% (45/129) of the cases, and 75% (27/36) of the anti-ENA-positive patients were diagnosed with an AD. Systemic lupus erythematosus and scleroderma were the most common pathologies in the antigen-positive patients. The anti-ENA test is a good marker to aid in the complex clinical diagnosis of patients with autoimmune diseases.

The clinical significance of borderline results of the Elia CTD Screen assay

2018 ◽  
Vol 56 (12) ◽  
pp. 2088-2092
Author(s):  
Christoph Robier ◽  
Omid Amouzadeh-Ghadikolai
Keyword(s):  
Clinical Significance ◽  
Lupus Erythematosus ◽  
Medical Records ◽  
Antinuclear Antibodies ◽  
Solid Phase ◽  
Sequential Screening ◽  
Nuclear Antigens ◽  
Low Concentrations ◽  
Thermo Fisher Scientific ◽  
Fisher Scientific

Abstract Background Data on the clinical relevance of borderline results of solid-phase assays in the screening for antinuclear antibodies (ANA) are sparse. This study aimed to determine the clinical significance of borderline results of the Elia CTD Screen (ECS; Phadia/Thermo Fisher Scientific, Freiburg, Germany), a fluoroenzymeimmunoassay incorporating 17 recombinant human nuclear antigens. Methods We retrospectively examined the medical records of 143 subjects with borderline ECS results for ANA-associated autoimmune disorders (AASARD) and the association with the results of indirect immunofluorescence (IIF) and confirmatory assays for ANA. Results AASARD were diagnosed in 10 patients (7%) with systemic lupus erythematosus (n=5; four patients were prediagnosed and in clinical remission), polymyositis overlap syndromes (n=2), scleroderma, Raynaud’s syndrome and undetermined connective tissue disease (each n=1). Most frequently, homogeneous and nucleolar IIF patterns were found. Positive ANA subsets were observed in three patients. Furthermore, four patients were diagnosed with autoimmune liver diseases and yielded positive IIF in three and positive confirmatory assays in all cases. Taken together, 129 subjects had no AASARD. Within this group, 43 patients were IIF positive and most frequently showed speckled, unspecific nucleolar and only rarely homogeneous patterns. Positive ANA subsets were found in low concentrations near to the upper reference range in 18 subjects. Conclusions AASARD were observed in 7% of the subjects with borderline ECS and showed homogeneous or nucleolar IIF patterns in the majority of these cases. Our findings suggest that borderline results of the ECS can be clinically relevant and support the concept of a parallel or sequential screening for ANA by both ECS and IIF.

scholarly journals Evaluation of the performance of immunoblot and immunodot techniques used to identify autoantibodies in patients with autoimmune diseases

2021 ◽  
Vol 19 (1) ◽  
pp. 237-244
Author(s):  
Youssef EL Hassouni ◽  
Mohammed Bourhia ◽  
Ahmed Bari ◽  
Riaz Ullah ◽  
Hafiz Majid Mahmood ◽  
...  
Keyword(s):  
Immune System ◽  
Autoimmune Diseases ◽  
Indirect Immunofluorescence ◽  
Antinuclear Antibodies ◽  
Pathological Conditions ◽  
Nuclear Antigens ◽  
Significant Difference ◽  
U1 Snrnp

Abstract Autoimmune diseases are pathological conditions in which the immune system mistakenly attacks its own tissues. This study evaluates the performance of two techniques, which are identifiers of autoantibody specifics: immunoblot and immunodot. This study was conducted in 300 patients of whom 62 were tested positive for antinuclear antibodies. The patients were initially screened for antinuclear antibodies using indirect immunofluorescence. Then, the identification of specific autoantibodies such as anti-extractable nuclear antigens (ENAs) was carried out using the immunoblot and immunodot techniques. The results showed that immunoblot and immunodot did not present a significant difference in their sensitivity against anti-SSA/52, SSB, CENP-B, PCNA, U1-snRNP, Jo-1, Pm-scl, and Mi-2 (p > 0.05). However, the two techniques showed a significant difference in their sensitivity toward autoantibodies anti-DNAn, anti-histone, anti-SmD1, and anti-ds-DNA (p < 0.05). The immunoblot data were in complete accordance with the immunodot data (100%) regarding the detection of autoantibodies such as anti SSA/52, SSB, CENP-B, PCNA, U1-snRP, Jo-1, Pm-scl, and Mi-2, 80% regarding SmD1, and 75% concerning ds-DNA. We should certainly pay closer attention to the efficiency of the techniques used in the diagnosis of autoimmune diseases.

scholarly journals Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

2020 ◽  
Vol 10 (2) ◽  
pp. 38 ◽  
Author(s):  
John Lynch ◽  
Richard Sharp ◽  
Sharon Aufox ◽  
Sarah Bland ◽  
Carrie Blout ◽  
...  
Keyword(s):  
Medical Records ◽  
Reading Level ◽  
Research Network ◽  
Significant Heterogeneity ◽  
Test Results ◽  
Negative Results ◽  
Genomic Test ◽  
Large Numbers ◽  
Content Review ◽  
Suggested Reading

A challenge in returning genomic test results to research participants is how best to communicate complex and clinically nuanced findings to participants in a manner that is scalable to the large numbers of participants enrolled. The purpose of this study was to examine the features of genetic results letters produced at each Electronic Medical Records and Genomics (eMERGE3) Network site to assess their readability and content. Letters were collected from each site, and a qualitative analysis of letter content and a quantitative analysis of readability statistics were performed. Because letters were produced independently at each eMERGE site, significant heterogeneity in readability and content was found. The content of letters varied widely from a baseline of notifying participants that results existed to more detailed information about positive or negative results, as well as materials for sharing with family members. Most letters were significantly above the Centers for Disease Control-suggested reading level for health communication. While continued effort should be applied to make letters easier to understand, the ongoing challenge of explaining complex genomic information, the implications of negative test results, and the uncertainty that comes with some types of test and result makes simplifying letter text challenging.

scholarly journals Antinuclear Antibodies: Marker of Diagnosis and Evolution in Autoimmune Diseases

2018 ◽  
Vol 49 (3) ◽  
pp. e62-e73 ◽  
Author(s):  
Lucia M Sur ◽  
Emanuela Floca ◽  
Daniel G Sur ◽  
Marius C Colceriu ◽  
Gabriel Samasca ◽  
...  
Keyword(s):  
Autoimmune Disease ◽  
Autoimmune Diseases ◽  
Antinuclear Antibodies ◽  
Test Results ◽  
Correct Interpretation ◽  
Healthy Individuals ◽  
A Cell ◽  
Specific Antigens ◽  
Blood Specimens ◽  
Human Laryngeal Carcinoma

Abstract Antinuclear antibodies (ANAs) are autoantibodies that attack self-proteins within cell nucleus structures; their presence in serum may indicate an autoimmune disease. Also, positive ANA test results have been obtained in chronic infectious diseases, cancers, medication-related adverse events, and even healthy individuals. As a result, a correct interpretation of the presence of ANAs is needed. Identification of ANAs subtypes is an important part of clinical immunology. The presence of ANAs in patient blood specimens is detected using a cell-line substrate from human laryngeal carcinoma (HEp-2 cells). On this substrate, ANAs will bind specific antigens, which will lead to a suggestive fluorescent emission. The fluorescence patterns visualized under the fluorescence microscope can be correlated with certain subtypes of ANA and certain autoimmune diseases. Depending on the subtype of ANA present in the serum and the targeted antigen, several staining patterns are reported, namely, nuclear patterns, nucleolar patterns, cell cycle patterns, or cytoplasmatic patterns. Identification of a certain pattern can lead to diagnosis of a certain autoimmune disease.

scholarly journals The Dual Role of TAM Receptors in Autoimmune Diseases and Cancer: An Overview

Cells ◽  
2018 ◽  
Vol 7 (10) ◽  
pp. 166 ◽  
Author(s):  
Martha Wium ◽  
Juliano Paccez ◽  
Luiz Zerbini
Keyword(s):  
Autoimmune Diseases ◽  
Lupus Erythematosus ◽  
Tyrosine Kinases ◽  
Therapeutic Potential ◽  
Cellular Processes ◽  
Tam Receptors ◽  
Different Types ◽  
Extracellular Environment ◽  
Migration And Development

Receptor tyrosine kinases (RTKs) regulate cellular processes by converting signals from the extracellular environment to the cytoplasm and nucleus. Tyro3, Axl, and Mer (TAM) receptors form an RTK family that plays an intricate role in tissue maintenance, phagocytosis, and inflammation as well as cell proliferation, survival, migration, and development. Defects in TAM signaling are associated with numerous autoimmune diseases and different types of cancers. Here, we review the structure of TAM receptors, their ligands, and their biological functions. We discuss the role of TAM receptors and soluble circulating TAM receptors in the autoimmune diseases systemic lupus erythematosus (SLE) and multiple sclerosis (MS). Lastly, we discuss the effect of TAM receptor deregulation in cancer and explore the therapeutic potential of TAM receptors in the treatment of diseases.

scholarly journals Male-only Systemic Lupus

2010 ◽  
Vol 37 (7) ◽  
pp. 1480-1487 ◽  
Author(s):  
RACHNA AGGARWAL ◽  
BAHRAM NAMJOU ◽  
SHIBO LI ◽  
ANIL D’SOUZA ◽  
BETTY P. TSAO ◽  
...  
Keyword(s):  
Lupus Erythematosus ◽  
Medical Records ◽  
Antinuclear Antibodies ◽  
White Women ◽  
White Men ◽  
Toll Like Receptor ◽  
Systemic Lupus ◽  
Male Fish ◽  
Susceptibility Factors

Objective.Systemic lupus erythematosus (SLE) is more common among women than men, a ratio of about 10 to 1. We undertook this study to describe familial male SLE within a large familial SLE cohort.Methods.SLE families (2 or more patients) were identified from the Lupus Multiplex Registry and Repository. Genomic DNA and blood samples were obtained using standard methods. Autoantibodies were determined by multiple methods. Medical records were abstracted for SLE clinical data. Fluorescentin situhybridization (FISH) was performed with X and Y centromere-specific probes, and a probe specific for the Toll-like receptor 7 gene on the X chromosome.Results.Among 523 SLE families, we found 5 families in which all the SLE patients were male. FISH found noyaagene equivalent in these families. SLE-unaffected primary female relatives from the 5 families with only-male SLE patients had a statistically increased rate of positive antinuclear antibodies compared to SLE-unaffected female relatives in other families. White men with SLE were 5 times more likely to have an offspring with SLE than White women with SLE, but there was no difference in this likelihood among Black men.Conclusion.Because women in the all-male families had positive antinuclear antibodies, and men are more likely to have children with SLE, these data suggest genetic susceptibility factors that act only in men.

scholarly journals Genetic Modifiers of Systemic Lupus Erythematosus in FcγRIIB−/− Mice

2002 ◽  
Vol 195 (9) ◽  
pp. 1167-1174 ◽  
Author(s):  
Silvia Bolland ◽  
Young-Sun Yim ◽  
Katalin Tus ◽  
Edward K. Wakeland ◽  
Jeffrey V. Ravetch
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Antinuclear Antibodies ◽  
Susceptibility Gene ◽  
Genetic Modifiers ◽  
Systemic Lupus ◽  
Nuclear Antigens ◽  
Loss Of Tolerance ◽  
Significant Disease ◽  
Compound Heterozygotes

FcγRIIB is a potent lupus susceptibility gene as demonstrated by the observation that mice deficient in this molecule develop spontaneous antinuclear antibodies (ANA) and fatal glomerulonephritis when on the C57BL/6 background. To determine the mechanisms underlying the epistasis displayed by this gene we have constructed hybrids between FcγRIIB−/− and the systemic lupus erythematosus (SLE) modifiers yaa and lpr and the susceptibility locus Sle1. Sle1 and B6.RIIB−/− are both physically and functionally coupled; compound heterozygotes of Sle1 and B6.RIIB−/− develop significant disease, while single heterozygotes display no evidence of autoimmunity or disease, indicating that these genes lie on the same genetic pathway resulting in the loss of tolerance to nuclear antigens. However, the generation of ANA in itself is insufficient to account for the severity of autoimmune disease in this model, as demonstrated by analysis of yaa and lpr hybrids. Thus, B6.RIIB−/−/lpr mice are protected from disease progression, despite equivalent titers of ANA. In contrast, B6.RIIB−/−/yaa mice have significantly enhanced disease despite reduced ANA titers. Yaa modifies the specificity and thus the pathogenicity of the B6. RIIB−/− ANA, by converting them to antinucleolar antibodies. In addition to these known modifier pathways, we have discovered two novel, recessive loci contributed by the C57BL/6 genome that are required for the ANA phenotype, further indicating the epistatic properties of this SLE model.

scholarly journals Screening for connective tissue disease-associated antibodies by automated immunoassay

2018 ◽  
Vol 56 (6) ◽  
pp. 909-918 ◽  
Author(s):  
Philippe Willems ◽  
Ellen De Langhe ◽  
Jolien Claessens ◽  
René Westhovens ◽  
Erna Van Hoeyveld ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Medical Records ◽  
Antinuclear Antibodies ◽  
Double Negative ◽  
Double Positive ◽  
Single Positive ◽  
Automated Immunoassay ◽  
Selection Of

AbstractBackground:Antinuclear antibodies (ANAs) are useful for the diagnosis of ANA-associated systemic rheumatic disease (AASRD). The objective of this study was the evaluation of an immunoassay that detects antibodies to a mixture of 17 antigens as an alternative to indirect immunofluorescence (IIF).Methods:Nine thousand eight hundred and fifty-six consecutive patients tested for ANAs were tested by IIF and EliA connective tissue disease screen (Thermo-Fisher). Medical records were reviewed for 2475 patients, including all patients that tested positive/equivocal by either test and a selection of 500 patients that tested negative.Results:Concordance between IIF and EliA was 83.1%. AASRD was found in 12.8% of IIF-positive patients, 30.2% of EliA-positive patients and 0.4%, 46.6%, 5.8% and 3.0% of patients that tested, respectively, double negative, double positive, single positive for EliA and single positive for IIF. The association with AASRD increased with increasing antibody level. IIF and EliA were positive in, respectively, 90.4% and 69.9% of systemic lupus erythematosus (n=83), 100% and 84.1% of systemic sclerosis (n=63), 86.7% and 93.3% of Sjögren’s syndrome (n=45), 88.2% and 52.9% of polymyositis/dermatomyositis (n=17), and in all cases of mixed connective tissue disease (n=8). The specificity was projected to be 94%–96% for EliA and 86% for IIF. When all AASRDs were taken together, the areas under the curve of receiver operator curves were similar between IIF and EliA.Conclusions:The positive predictive value for AASRD was higher for EliA than for IIF, but, depending on the disease, EliA might fail to detect antibodies that are detected by IIF. Combining immunoassay with IIF adds value.

scholarly journals Clinical and Pathological Roles of Ro/SSA Autoantibody System

2012 ◽  
Vol 2012 ◽  
pp. 1-12 ◽  
Author(s):  
Ryusuke Yoshimi ◽  
Atsuhisa Ueda ◽  
Keiko Ozato ◽  
Yoshiaki Ishigatsubo
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Autoimmune Diseases ◽  
Lupus Erythematosus ◽  
Clinical Importance ◽  
Systemic Lupus ◽  
Systemic Autoimmune Diseases ◽  
Nuclear Antigens ◽  
Diagnosis And Classification

Anti-Ro/SSA antibodies are among the most frequently detected autoantibodies against extractable nuclear antigens and have been associated with systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS). Although the presence of these autoantibodies is one of the criteria for the diagnosis and classification of SS, they are also sometimes seen in other systemic autoimmune diseases. In the last few decades, the knowledge of the prevalence of anti-Ro/SSA antibodies in various autoimmune diseases and symptoms has been expanded, and the clinical importance of these antibodies is increasing. Nonetheless, the pathological role of the antibodies is still poorly understood. In this paper, we summarize the milestones of the anti-Ro/SSA autoantibody system and provide new insights into the association between the autoantibodies and the pathogenesis of autoimmune diseases.

scholarly journals Placental pathology in maternal autoimmune diseases-new insights and clinical implications

2017 ◽  
Vol 6 (9) ◽  
pp. 4090 ◽  
Author(s):  
Ramya T. ◽  
Umamaheswari G. ◽  
Chaitra V.
Keyword(s):  
Autoimmune Diseases ◽  
Lupus Erythematosus ◽  
Antiphospholipid Antibodies ◽  
Antinuclear Antibodies ◽  
Unknown Etiology ◽  
Clinical Implications ◽  
Placental Pathology ◽  
Fibrin Deposition ◽  
Adverse Perinatal Outcome ◽  
Foetal Outcome

Background: Pregnancy in women with autoimmune diseases is frequently associated with placental insufficiency leading to adverse perinatal outcome. Aim of the study was to investigate the presence and possible clinical significance of placental lesions in mothers with different autoimmune disorders.Methods: In this retrospective study, 11 placentas from 10 mothers with diverse autoimmune diseases including systemic lupus Erythematosus (SLE), antiphospholipid antibodies (APLA), idiopathic thrombocytopenic purpura (ITP) and antinuclear antibodies (ANA) were studied.Results: Placental correlates were reduced placental weight, maternal vascular under perfusion, abruption, villitis of unknown etiology, multifocal chorangiomatosis, distal villous immaturity, massive perivillous fibrin deposition/maternal floor infarction and foetal thrombotic vasculopathy. Of the 11 pregnancies 3 were untreated (1 SLE, 2 APLA) and resulted in intrauterine foetal demise. The lesions were more severe in these cases. All the treated pregnancies resulted in live born babies (8), of which 3 were growth restricted, 2 were complicated with oligohydramnios and 3 were delivered preterm.Conclusions: In this group of diverse autoimmune disorders, placental lesions were not specific for each of them. Apart from maternal vascular under perfusion, lesions like villitis of unknown etiology, distal villous immaturity and massive perivillous fibrin deposition were identified and may recur in subsequent pregnancies and treatment should be directed towards modifying it. The placental examination should be mandatory in all cases of maternal autoimmunity and pregnancies with poor foetal outcome.

Sign in / Sign up

Export Citation Format

Share Document