Diagnosis Of Autoimmune Diseases Research Articles

Ukrainian adaptation of the nomenclature of the International Consensus on Antinuclear Antibody Patterns

Background. Diagnosis of autoimmune diseases remains a complex multi-stage process that includes various methods of laboratory testing. The gold standard for serological diagnosis of autoimmune connective tissue disorders is the indirect immunofluorescence assay (IFA) on HEp-2 cells. The result of the test is a description of the morphological pattern observed in the assay, which correlates with the corresponding autoantibodies and allows to direct further diagnostics. The most recent and most comprehensive attempt to describe HEp-2 IFA patterns was made by the International Consensus on Antinuclear Antibody (ANA) Patterns (ICAP). Purpose. Ukrainian adaptation of the ICAP nomenclature was developed to provide for seamless harmonization and integration with international protocols. Materials and methods. Ukrainian adaptation was based on the materials the International Consensus on Antinuclear Antibody (ANA) Patterns (ICAP). Results. Ukrainian nomenclature of HEp-2 IFA patterns is provided in accordance with ICAP nomenclature, to be used a tool for comprehensive description of HEp-2 IFA results and guidance for clinicians Conclusions. With the introduction and universal use of the Ukrainian adaptation of ICAP nomenclature, the laboratory diagnosis of autoimmune connective tissue diseases is approaching international standards, which creates conditions for the integration of international protocols for the diagnosis and treatment of these pathologies.

Machine learning for precision diagnostics of autoimmunity

Early and accurate diagnosis is crucial to prevent disease development and define therapeutic strategies. Due to predominantly unspecific symptoms, diagnosis of autoimmune diseases (AID) is notoriously challenging. Clinical decision support systems (CDSS) are a promising method with the potential to enhance and expedite precise diagnostics by physicians. However, due to the difficulties of integrating and encoding multi-omics data with clinical values, as well as a lack of standardization, such systems are often limited to certain data types. Accordingly, even sophisticated data models fall short when making accurate disease diagnoses and presenting data analyses in a user-friendly form. Therefore, the integration of various data types is not only an opportunity but also a competitive advantage for research and industry. We have developed an integration pipeline to enable the use of machine learning for patient classification based on multi-omics data in combination with clinical values and laboratory results. The application of our framework resulted in up to 96% prediction accuracy of autoimmune diseases with machine learning models. Our results deliver insights into autoimmune disease research and have the potential to be adapted for applications across disease conditions.

Analysis of antinuclear antibody in 9 528 pregnant women during early pregnancy in a hospital in Qingdao City

To analyze the positivity rate and titer of antinuclear antibody (ANA), as well as nuclear pattern and target antigen of ANA in healthy pregnant women during early pregnancy in Qingdao area. A prospective cohort study design was used to include a total of 9 528 healthy pregnant women registered at the Women and Children's Hospital Affiliated to Qingdao University from March 2023 to June 2024.Indirect immunofluorescence assay (IIF) was used to detect ANA, its titer and cell staining pattern. Fifteen specific antibodies were tested using the magnetic bar code immunofluorescent luminescence method. Logistic regression model was used to analyze the risk factors of pregnancy with autoimmune disease(AID). The results showed that among 9 528 pregnant women in early pregnancy, 1 346 cases (14.1%) were positive of ANA, including 1 011 cases with a titer of 1∶100 (10.6%), 236 cases (2.5%) with a titer of 1∶320, and 99 cases (1.0%) were detected at a titer >1∶320. Among the 1 346 ANA-positive pregnant women, nuclear granular type accounted for the highest proportion (483 cases, 35.9%), followed by speckled type (347 cases, 25.8%) and cytoplasmic type (176 cases, 13.1%).Then, pregnant women with ANA titers ≥1∶100 were detected 15 specific antibodies.Anti-SSA was tested in 121 cases accounted for the majority, followed by 110 cases with anti-Ro-52, 56 cases with anti-SSB, 51 cases with anti-mitochondrial M2 subtype antibodies and 37 cases with anti-centromere B. In conclusion,in healthy pregnant women in Qingdao area, ANA positivity rate was 14.1%, and the titer of ANA was mainly at 1∶100.The predominant nuclear patterns were nuclear granular and speckled types.The specific autoantibodies were mainly anti-SSA antibodies and anti-Ro-52 antibodies.The detection of ANA and specific autoantibodies is of great significance for early prediction, diagnosis, and intervention of autoimmune diseases during pregnancy.

Effectiveness and safety of therapeutic plasma exchange in neurological diseases: An 11-year report from a tertiary care center.

Therapeutic plasma exchange has been a well-known treatment method for many years and is widely available. It leads to the improvement of neurological symptoms in autoimmune neurological diseases by the removal of antibodies. The aim of this study was to present therapeutic plasma exchange responses and procedure-related adverse events in patients with autoimmune neurological diseases based on our 11-year experience. A retrospective evaluation was conducted on adult patients who underwent a therapeutic plasma exchange procedure due to neurological diseases between January 2013 and January 2024. Data were gathered from electronic and written hospital and apheresis unit records. A total of 265 patients underwent 1274 procedures with a preliminary diagnosis of autoimmune neurological disease. Five patients were excluded from the analysis due to their final diagnoses. The most common clinical indications were Guillain-Barré syndrome (45.4%), myasthenia gravis (26.1%), and multiple sclerosis (19.2%). The overall response rate was 81.3%, with 21.7% exhibiting a complete response and 59.6% demonstrating a partial response. With the exception of one patient (hypertensive crisis), no complications necessitating the termination of the procedure were observed. The most prevalent complication was an easily manageable allergic reaction. Therapeutic plasma exchange has been demonstrated to be an efficacious and safe treatment option in autoimmune neurological diseases, with a favorable overall response rate and a manageable mild-to-moderate side effect profile.

IGLON5 Frequency in Idiopathic REM Sleep Behavior Disorder: A Multicenter Study.

Idiopathic/isolated REM sleep behavior disorder (iRBD) has been strongly linked to neurodegenerative synucleinopathies such as Parkinson disease, dementia with Lewy bodies, and multiple system atrophy. However, there have been increasing reports of RBD as a presenting feature of serious and treatable autoimmune syndromes, particularly IGLON5. This study's objective was to investigate the frequency of autoantibodies in a large cohort of participants with iRBD. Participants were enrolled in the North American Prodromal Synucleinopathy cohort with polysomnography-confirmed iRBD, free of parkinsonism and dementia. Plasma samples were systematically screened for the autoantibodies IGLON5, DPPX, LGI1, and CASPR2 using plasma IgG cell-based assay. Positive or equivocal results were confirmed by repeat testing, plus tissue-based indirect immunofluorescence assay for IGLON5. Of 339 samples analyzed, 3 participants (0.9%) had confirmed positive IGLON5 autoantibodies in the cell-based assay, which were confirmed by the tissue-based assay. An additional participant was positive for CASPR2 with low titer by cell-based assay only (of lower clinical certainty). These cases exhibited a variety of symptoms including dream enactment, cognitive decline, autonomic dysfunction, and motor symptoms. In 1 IGLON5 case and the CASPR2 case, evolution was suggestive of typical synucleinopathy, suggesting the possibility that findings were incidental. However, 2 participants with IGLON5 died before diagnosis was clinically suspected, with a final clinical picture highly suggestive of autoimmune disease. Our finding that nearly 1% of a large iRBD cohort may have a serious but potentially treatable autoantibody syndrome has important clinical implications. In particular, it raises the question of whether autoantibody testing for IGLON-5-IgG should be widely implemented for participants with iRBD, considering the difficulty in diagnosis of autoimmune diseases, their response to treatment, and the potential for rapid disease progression. However, any routine testing protocol will also have to consider costs and potential adverse effects of false-positive findings. NCT03623672.

The regulating role of galectin-9 in immune cell populations.

Galectin-9 (gal-9) is a protein that belongs to the galectin family. Gal-9 is expressed in cells of the innate and adaptive immune system, including lymphocytes, dendritic cells, giant salivary cells, eosinophils and T cells, etc. In different immune cells, the role of gal-9 is different. Gal-9 can induce the proliferation and activation of immune cells, and also promote the apoptosis of immune cells. This effect of gal-9 affects the occurrence and development of a variety of immune-related diseases, such as the invasion of pathogenic microorganisms, immune escape of tumor cells, and inflammatory response. Thus, understanding the biological roles of gal-9 in innate and adaptive immunity may be essential for autoimmune diseases treatment and diagnosis to improve patient quality of life. In this review, we aim to summarize current research on the regulatory roles of gal-9 in human immune system and potential inducers and inhibitors of gal-9, which may provide new strategies for immune diseases therapies.

Incidence and risk of autoimmune disease in patients with a previous diagnosis of myocarditis - a nationwide Danish register-based cohort study

Abstract Introduction Myocarditis is a severe condition with an acute onset characterized by myocardial inflammation. The aetiology is heterogenous ranging from viral infections to autoimmune diseases (AD). However, it is currently unknown if patients with a first-time diagnosis of myocarditis are at higher risk of developing an autoimmune disease (AD) at a later stage. Purpose To estimate the risk of developing AD in patients with a first-time diagnosis of myocarditis during 20 years of follow-up. Methods Data source and study design: Nationwide register-based cohort study using data from Danish national administrative registers containing data on ICD-10 codes of diagnoses, prescription of pharmaceuticals, as well as date of birth and death on all Danish citizens. Study population: All Danish patients with a diagnosis of myocarditis from 2002-2020. Patients with previous diagnosis of AD were excluded. A control population without a diagnosis of myocarditis nor AD was sex and aged matched 1:5. Endpoints: Receiving a diagnosis of AD out of 35 recognized AD, and all-cause mortality. Statistics: Cumulative incidence of AD diagnosis was calculated by use of Aalen-Johansen estimation and all-cause mortality rate by Kaplan-Meier estimation. Hazard ratio (HR) by multivariate Cox regression modelling, standardized to sex, age, and comorbidities. Standardized relative (RR) and absolute (AR) risk derived from Cox regression by estimated Average Treatment Effect. Continuous variables are presented as median [1st quartile, 3rd quartile]. Results Study population: Myocarditis cohort: n=2,684. Control cohort: n=13,420. Median follow-up time: 9.5 years [5.4, 14.6]. Median age: 46 years [28, 67]. 69.5 % were of male sex. Comorbidities including hypertension, heart failure, and ischemic heart disease were significantly more common in patients with myocarditis. Autoimmune disease: At 20 years of follow-up, the cumulative incidence of AD diagnosis was 14.1% in the myocarditis cohort, and 5.8% in the control cohort. Adjusted HR for AD diagnosis in myocarditis vs. control cohorts was 2.65 (95% CI 2.19-3.17). Adjusted RR at 1 and 20 years of follow-up was 2.26 (95% CI 2.13-3.11) and 2.47 (95% CI 2.03-2.90), respectively. Figure 1 (left) shows AR of developing an AD at 20 years of follow-up, stratified by sex and age group. Mortality: Kaplan-Meier all-cause mortality was 40.5% in the myocarditis cohort, and 28.5% in the control cohort. Adjusted HR: 1.84 (95% CI 1.67-2.03). Adjusted RR at 1 and 20 years of follow-up: 1.77 (95% CI 1.60-1.93) and 1.31 (95% CI 1.25-1.36), respectively. Figure 1 (right) shows stratified AR of all-cause mortality at 20 years of follow-up. Conclusions Patients with a diagnosis of myocarditis had a significantly higher risk of developing AD in addition to significantly higher all-cause mortality compared to patients without previous myocarditis diagnosis. These findings suggest underlying and subsequent AD should be considered in patients with myocarditis.20-year AR of AD and all-cause mortalityICD-10 codes of AD investigated

Quantification of autoantibodies using a luminescent profiling method in autoimmune interstitial lung disease.

Autoantibodies are important for the diagnosis of autoimmune interstitial lung disease (ILD). Standard immunoassays have limitations, including their qualitative nature and/or a narrow dynamic range of detection, hindering the usefulness of autoantibodies as biomarkers of disease activity. Here, the luciferase immunoprecipitation system (LIPS) was evaluated for measuring myositis-specific and other lung-related autoantibodies in 25 subjects with idiopathic inflammatory myopathies (IIM), 26 with Sjögren's disease (SjD), and 10 healthy volunteers. LIPS detected a broad dynamic range of autoantibodies, to MDA5, Jo-1, PL12, KS, U1-70K, and Ro52, and matched seropositivity status with established immunoassays. Robust anti-MDA5 autoantibodies in four IIM-ILD patients had a median value of 1,134,000 LU (IQR 473,000-2,317,000), which was 500 times higher than in 21 seronegative IIM patients. Markedly elevated anti-Jo-1 autoantibodies in five IIM-ILD patients demonstrated a median value of 1,177,000 LU (IQR: 604,000-2,520,000), which was 1000-fold higher than in seronegative patients. Robust anti-Ro52 and other anti-tRNA-synthetase autoantibodies were detected in a subset of IIM-ILD subjects. In SjD, only anti-U1-70K and KS autoantibodies were identified in ILD patients with a prevalence of 30% and 20%, respectively. In longitudinal samples of five IIM-ILD patients, anti-Jo-1 autoantibody levels paralleled clinical improvement of lung function. LIPS can accurately quantify autoantibody levels as biomarkers for treatment response in patients with autoimmune ILD.

Head to head comparison of 18F-FDG and Al18F-NOTA-FAPI-04 PET/CT imaging used in diagnosis of autoimmune rheumatic diseases.

The aim of this study was to determine the performance of radionuclide-labeled fibroblast activation protein inhibitors (Al18F-NOTA-FAPI-04) PET/CT in patients with autoimmune rheumatic diseases (ARDs) and compare it with fluorine-18 (18F) labeled fluorodeoxyglucose (FDG) imaging. Fifty-eight participants with ARDs were prospectively enrolled from April 2022 to February 2024 and underwent dual-tracer PET/CT imaging. For both 18F-FDG and Al18F-NOTA-FAPI-04 PET/CT, imaging findings were interpreted and compared. The clinical significance was compared between18F-FDG PET/CT and Al18F-NOTA-FAPI-04 PET/CT imaging. 18F-FDG imaging was positive in 53 out of 58 cases (91.4%) while Al18F-NOTA-FAPI-04 imaging was positive in 55 out of 58 cases (94.8%). Overall positive rate of Al18F-NOTA-FAPI-04 imaging was as high as 18F-FDG imaging (P = 0.625). 18F-FDG imaging detected more lesions in lymph node, spleen, and bone marrow. Al18F-NOTA-FAPI-04 imaging detected more lesions in the lung, muscle, and tendon/ligament. There was no statistical difference of composing ratio of grades of clinical significance between two imaging modalities (χ2 = 2.875, P = 0.238). The superior rate of Al18F-NOTA-FAPI-04 PET/CT imaging was higher than 18F-FDG imaging (P = 0.020). In subgroup of adult-onset Still's disease, 18F-FDG imaging showed better performance than Al18F-NOTA-FAPI-04 imaging. In most of the other subgroup of ARDs, Al18F-NOTA-FAPI-04 PET/CT imaging overperformed 18F-FDG imaging. Both 18F-FDG and Al18F-NOTA-FAPI-04 PET/CT imaging have excellent sensitivity in ARDs. The detection capabilities of two tracers varied according to the involving organs of ARDs. In most of ARDs except adult-onset Still's disease, Al18F-NOTA-FAPI-04 PET/CT imaging overperformed 18F-FDG imaging. Key Points • 18F-FDG and Al18F-NOTA-FAPI-04 PET/CT imaging have excellent sensitivity in diagnosing of ARDs. • 18F-FDG PET/CT imaging detected more lesions in lymph node, spleen, and bone marrow. • 18F-NOTA-FAPI-04 PET/CT imaging detected more lesions in the lung, muscle, and tendon/ligament. • 18F-NOTA-FAPI-04 PET/CT imaging overperformed18F-FDG in most subgroups of ARDs.

Laboratory diagnostics of autoimmune liver diseases in primary care settings - short review

Elevated liver enzymes (ELE) are common in Germany. Primary care physicians are paramount in the early detection of liver diseases. The aim of this article is to provide an overview of autoimmune liver disease for primary care physicians (PCP) with a focus on laboratory diagnostics. The national and international guidelines and review articles serve as a reference, supplemented by the current prevalence data from the German Zentralinstitut of the kassenärztliche Vereinigung (ZI). In 2022, of the approximately 59 million PCP patients aged 20 years and older, around 50-60/100 000 received a confirmed diagnosis of autoimmune hepatitis or primary biliary cholangitis (according to ICD-10-GM diagnosis). The diagnoses were made 2 to 6 times more frequently in women than in men. Primary sclerosing cholangitis occurred in around 10/100 000 people treated by PCPs; women were affected up to twice as often, especially from the age of 60. Data on etiology, clinical, laboratory and diagnostic parameters, treatment options and prognosis data for the 3 disease entities are presented concisely in this article. Laboratory diagnostics is the central step in the diagnosis of autoimmune liver diseases. However, general laboratory screening for ELE is not advisable. Rather, it is important to recognize, that no validated key figures are yet available for these markers in the primary care setting. The interpretation of these laboratory values is therefore complex. It is therefore advisable to consider determining these specific laboratory parameters, taking into account the common (and less common) causes that can lead to ELE.

Determination of antinuclear antibodies: role in modern differential diagnosis of connective tissue autoimmune diseases

There is an increase in autoimmune rheumatic diseases among all age population groups globally. Diagnosis is often difficult, because the early stages of the diseases usually do not have specific symptoms. Often, clinical manifestations of autoimmune diseases and non-autoimmune pathologies have similar symptoms. Therefore, the differential diagnosis could be very difficult. Most often, the determination of antinuclear autoantibodies is used for laboratory diagnosis of connective tissue systemic diseases. Autoantibodies can be detected in patients long time before the appearance of symptoms. The correct diagnosis is very important because the therapy of various nosologies can be different. It is especially significant with the invention of targeted therapy. Further analysis of the diagnostic value of autoantibody determination is very important. This article presents examination and follow-up data of three children. The analysis of medical documentation was carried out. The role of determining autoantibodies in the differential diagnosis of autoimmune connective tissue diseases was analyzed. In the first patient with Sjögren’s syndrome, the clinical picture of the underlying disease developed at least 5 years after the detection of high levels anti-SS-A, SS-B and Ro-52 antibodies (immunoblotting) and the speckled pattern (indirect immunofluorescence assay). In the second patient, antibodies against centromeres (specific markers of systemic scleroderma) appeared at least 2 years before clinical symptoms. In the third patient, the specific markers of systemic scleroderma have been detected for 5 years. There were antibodies against centromeres (immunoblotting), high titer and the centromere pattern (indirect immunofluorescence assay). However, the patient has not developed any clinical symptoms of this disease during all time of observation. Thus, the analysis of the presented clinical cases shows that autoantibodies can be detected in patients long time before the onset of clinical manifestations of a specific autoimmune disease. In all three cases, the first immunological examination has been carried out in the background of the disease symptoms, but they were atypical. Identification of specific autoantibodies, is very important for differential diagnosis. In the absence of clinical symptoms, the presence of autoantibodies, is the reason for dynamic observation of the patients.

Excess of severe autoimmune diseases in women with premature ovarian insufficiency: a population-based study.

Is there an association between premature ovarian insufficiency (POI) and severe autoimmune diseases before and after POI diagnosis? Women with POI had at least one hospital-treated autoimmune disorder preceding POI diagnosis 2.6 times more often compared with matched female controls, and a 2- to 3-fold risk for these diseases for several years after POI diagnosis. It has been suggested that autoimmunity is an important factor in the pathogenesis of POI. Estimations of the prevalence of POI cases with autoimmune origin have ranged from 4% to 50%. This population-based registry study included 3972 women diagnosed with spontaneous POI between 1988 and 2017 and 15708 female population controls and used both case-control and cohort analysis. Autoimmune disease diagnoses were evaluated from childhood until the end of the year 2017. Women with POI were identified from the reimbursement registry of the Finnish Social Insurance Institution by their right to hormone replacement therapy (HRT). Four female population controls matched by age and municipality of residence were searched for each POI case to form a reference cohort. Women with a history of cancer or bilateral oophorectomy were excluded. Severe autoimmune disorder diagnoses for the years 1970-2017 were identified from the Hospital Discharge Registry. Odds ratios (ORs) with 95% confidence intervals (CI) were calculated using binary logistic regression for cases of having any, or one or more, specific autoimmune diseases preceding the index date (the date when reimbursement for HRT was granted for the POI) among women with POI as compared to controls. Standardized incidence ratios (SIR) with 95% CIs for getting diagnosed with an autoimmune disease after the index date in 3-year follow-up periods among women with POI (who did not have these diseases prior to the index date) were also calculated. The expected numbers of autoimmune disease cases were based on the incidence of first-onset severe autoimmune disease among the controls. The prevalence of having at least one severe autoimmune disease in women with POI was 5.6% (n = 233), with an OR of 2.6 (95% CI 2.2, 3.1) when compared to population controls. Women with POI had an increased prevalence of several specific autoimmune diseases prior to the index date compared to controls: polyglandular autoimmune diseases (OR 25.8, 95% CI 9.0, 74.1), Addison's disease (OR 22.9, 95% CI 7.9, 66.1), vasculitis (OR 10.2, 95% 4.3, 24.5), systemic lupus erythematosus (OR 6.3 95% CI 4.2, 20.3), rheumatoid arthritis (OR 2.3, 95% CI 1.7, 3.2), sarcoidosis (OR 2.3, 95% CI 1.2, 4.5), inflammatory bowel diseases (OR 2.2, 95% CI 1.5, 3.3), and hyperthyroidism (OR 1.9, 95% CI 1.2, 3.1); whereas the prevalence of diabetes type 1 and ankylosing spondylitis did not differ between the women with POI and the reference cohort. The SIRs for being diagnosed for the first time with a severe autoimmune disease after POI diagnosis was 2.8 (95% CI 2.3, 3.4), during the first three years after POI diagnosis, decreasing gradually to 1.3 (1.1, 1.6) after 12 years. This study only included autoimmune disorders diagnosed in specialized health care; hence, the overall prevalence of autoimmune disorders in women with POI may be higher. Severe autoimmune diseases have a strong association with POI, suggesting that immunological mechanisms play a pivotal role in POI. Future studies should focus on specific autoimmune mechanisms behind POI, from both preventive and curative perspectives. This work was financially supported by Oulu University Hospital. S.M.S. received grants from the Finnish Menopause Society, the Finnish Medical Foundation, and the Juho Vainio Foundation. H.S. received grants from the Finnish Menopause Society, the Oulu Medical Research Foundation, the Finnish Research Foundation of Gynecology and Obstetrics, UniOGS graduate school, The Finnish Medical Society Duodecim, Orion Research Foundation, and the University of Oulu Scholarship Fund. M.-M.O. received a grant from the Sakari Alhopuro Foundation and the Finnish Diabetes Research Foundation. None of the funders had any involvement in the study design or its execution or reporting. The authors do not have any competing interests to report. N/A.

Properties and units in the clinical laboratory sciences. Part XXVIII. NPU codes for characterizing subpopulations of the hematopoietic lineage, described from their clusters of differentiation molecules (IUPAC Technical Report)

Abstract This document describes how the Nomenclature for Properties and Units (NPU) terminology can be applied to differentiate between cell subpopulations of the hematopoietic lineage. The clusters of differentiation molecules are included in the NPU syntax, together with its correct affiliations to indicate their presence or absence. This allows for identification and isolation of cell populations, subsets, and differentiation stages, which is essential for correct diagnosis and treatment of several malignancies and autoimmune diseases.

Association between autoimmune diseases and Alzheimer’s disease: analysis using big data tools

ObjectiveThe objective is to analyze the prevalence of Alzheimer's disease in patients with and without a diagnosis of different autoimmune diseases and the possible association between both pathologies. Patients and methodsA multicenter, retrospective, cohort study was conducted to study the prevalence of Alzheimer’s disease among patients diagnosed with various autoimmune diseases compared to the general population. Data from electronic medical records from the Castilla-La Mancha healthcare system were analyzed using Natural Language Processing through the Savana Manager® artificial intelligence clinical platform. A total of 1,028,356 patients were analyzed, including 28,920 individuals with Alzheimer's disease and 999,436 control patients. ResultsOut of the 12 autoimmune diseases analyzed, 5 showed a significant association with Alzheimer's disease with p < 0.05. Myasthenia gravis had an increased prevalence of AD with OR 1.49 (95% CI 1.11–2), systemic lupus erythematosus with OR 2.42 (95% CI 2.02–2.88), rheumatoid arthritis with OR 1.38 (95% CI 1.24–1.54), polymyalgia rheumatica with OR 2.01 (95% CI 1.08–2.23), and pernicious anemia with OR 2.06 (95% CI 1.59–2.66). The remaining autoimmune diseases analyzed did not show a higher prevalence of Alzheimer's disease compared to the general population. ConclusionsThere may be an association between certain systemic autoimmune diseases and Alzheimer's disease. Further studies are needed to confirm our findings, establish causality, and explore the underlying mechanisms of this association.

MURDA: Multisource Unsupervised Raman Spectroscopy Domain Adaptation Model with Reconstructed Target Domains for Medical Diagnosis Assistance.

Artificial intelligence combined with Raman spectroscopy for disease diagnosis is on the rise. However, these methods require a large amount of annotated spectral data for modeling to achieve high diagnostic accuracy. Annotating labels consumes significant medical resources and time. To reduce dependence on labeled medical data resources, we propose a method called Multisource Unsupervised Raman Spectroscopy Domain Adaptation Model with Reconstructed Target Domains (MURDA). It transfers knowledge learned from source domain data sets of different diseases to an unlabeled target domain data set. Compared to knowledge transfer from a single source domain, knowledge from multiple disease source domains provides more generalized knowledge. Considering the diversity of autoimmune diseases and the limited sample size, we apply MURDA to assist in the medical diagnosis of autoimmune diseases. Additionally, we propose a Double-Branch Multiscale Convolutional Self-Attention (DMCS) feature extractor that is more suitable for spectral data feature extraction. On three sets of serum Raman spectroscopy data sets for autoimmune diseases, the multisource domain adaptation diagnostic accuracy of MURDA was superior to traditional single source and multisource models, with accuracy rates of 73.6%, 83.4%, and 82.9%, respectively. Compared with pure source tasks without domain adaptation, it improved by 15.1%, 36%, and 21.6%, respectively. This demonstrates the effectiveness of Raman spectroscopy combined with MURDA in diagnosing autoimmune diseases. We investigated the important decision dependency peaks in migration tasks, providing assistance for future research on artificial intelligence combined with Raman spectroscopy for diagnosing autoimmune diseases. Furthermore, to validate the effectiveness and generalization performance of MURDA, we conducted experiments on the publicly available RRUFF data set, exploring the application of multisource unsupervised domain adaptation in more Raman spectroscopy scenarios.

Single-Cell Sequencing: High-Resolution Analysis of Cellular Heterogeneity in Autoimmune Diseases.

Autoimmune diseases (AIDs) are complex in etiology and diverse in classification but clinically show similar symptoms such as joint pain and skin problems. As a result, the diagnosis is challenging, and usually, only broad treatments can be available. Consequently, the clinical responses in patients with different types of AIDs are unsatisfactory. Therefore, it is necessary to conduct more research to figure out the pathogenesis and therapeutic targets of AIDs. This requires research technologies with strong extraction and prediction capabilities. Single-cell sequencing technology analyses the genomic, epigenomic, or transcriptomic information at the single-cell level. It can define different cell types and states in greater detail, further revealing the molecular mechanisms that drive disease progression. These advantages enable cell biology research to achieve an unprecedented resolution and scale, bringing a whole new vision to life science research. In recent years, single-cell technology especially single-cell RNA sequencing (scRNA-seq) has been widely used in various disease research. In this paper, we present the innovations and applications of single-cell sequencing in the medical field and focus on the application contributing to the differential diagnosis and precise treatment of AIDs. Despite some limitations, single-cell sequencing has a wide range of applications in AIDs. We finally present a prospect for the development of single-cell sequencing. These ideas may provide some inspiration for subsequent research.

Pregnancy complications and new-onset maternal autoimmune disease.

Autoimmune diseases disproportionately impact women and female-specific aspects of reproduction are thought to play a role. We investigated the time-varying association between pregnancy complications and new-onset autoimmune disease in females during the reproductive and midlife years. We conducted a population-based cohort study of 1704553 singleton births to 1072445 females in Ontario, Canada (2002-17) with no pre-existing autoimmune disease. Pregnancy complications were preeclampsia, stillbirth, spontaneous preterm birth and severe small for gestational age (SGA). Royston-Parmar models were used to estimate the time-varying association between pregnancy complications and a composite of 25 autoimmune diseases from date of delivery to date of autoimmune disease diagnosis or censoring at death, loss of health insurance, or 31 March 2021. Models were adjusted for baseline socio-demographics, parity and comorbidities. At 19 years (median = 10.9 years of follow-up), cumulative incidence of autoimmune disease was 3.1% in those with a pregnancy complication and 2.6% in those without complications. Adjusted hazard ratio (AHR) curves as a function of time since birth were generally L-shaped. Universally, risks were most elevated within the first 3 years after birth [at 1 year: preeclampsia AHR 1.22, 95% confidence interval (CI) 1.09-1.36; stillbirth AHR 1.36, 95% CI 0.99-1.85; spontaneous preterm birth AHR 1.30, 95% CI 1.18-1.44; severe SGA AHR 1.14, 95% CI 0.99-1.31] and plateaued but remained elevated thereafter. Prior history of pregnancy complications may be an important female-specific risk factor to consider during clinical assessment of females for possible autoimmune disease to facilitate timely detection and treatment.

Association between Epstein-Barr virus infection and serum positivity rate of anti-nuclear antibodies in Chongqing, China: A cross-sectional observational study.

Epstein-Barr virus (EBV) infects over 95% of the global population and is strongly associated with various autoimmune diseases. Anti-nuclear antibodies (ANA) serve as valuable laboratory biomarkers for screening and supporting the diagnosis of various autoimmune diseases. The aim of this study was to assess the prevalence of EBV infection and its association with ANA. This retrospective study employed standard indirect immunofluorescence assay to determine ANA levels, EBV-specific immunofluorescence assay, or plasma EBV-DNA testing. Demographic data including gender and age were collected to observe variations in EBV infection status and ANA positivity rates among different populations. Incorporating 6492 hospitalized patients who underwent ANA antibody spectrum testing, it was observed that serum positivity rates gradually increased with age. The overall serum positivity rate of ANA in females (25.14%) was significantly higher than that in males (13.76%). Among hospitalized patients undergoing EBV-DNA testing, adults aged 21 to 40 years were least affected by EBV, with a positivity rate of 11.96%; however, as age increased, the positivity rate gradually increased. Among the 5225 patients undergoing EBV antibody spectrum testing, ANA-positive patients exhibited significantly higher serum positivity rates for Epstein-Barr nuclear antigen 1 immunoglobulin G, Epstein-Barr virus early antigen immunoglobulin G, Epstein-Barr virus early antigen immunoglobulin A, and Epstein-Barr virus viral capsid antigen immunoglobulin A antibodies compared to ANA-negative patients (P < .001; P < .001; P = .013; P < .001). The EBV-DNA positivity rate in ANA-positive patients was also significantly higher than in ANA-negative patients, yielding the same conclusion (P = .012). The positivity rates of ANA antibodies in patients with past EBV infection and reactivation were significantly higher than those in uninfected patients (P < .001; P = .006). The positivity rate of ANA antibodies in reactivated patients was significantly higher than that in primary infected patients and those with past infections (P < .001; P < .001). Among ANA-positive patients, the positivity rates of EBV antibody spectrum and EBV-DNA were higher compared to ANA-negative patients. The positivity rates of ANA in patients with past EBV infection and reactivation were higher than those in uninfected patients.

Direct immunofluorescence demystified: Essential insights and recent advances for dermatologists.

Direct immunofluorescence (DIF) is widely used in dermatopathology for the diagnosis of autoimmune blistering diseases (AIBDs), cutaneous vasculitis, and connective tissue disorders. Although it is easy and useful to perform, it needs technical expertise and experience for proper interpretation. The yield of DIF depends on multiple factors including the adequacy, transportation, storage, processing, and interpretation of the biopsy specimen. Effective collaboration between the dermatologist and dermatopathologist along with meticulous clinico-pathological correlation is crucial for accurately interpreting DIF in the appropriate clinical context. In this narrative review of DIF in dermatology, we discuss the indications of DIF, recent updates on the selection of optimum biopsy sites, basic techniques of DIF including the classical transport medium and its alternatives, processing and staining technique, patterns in various diseases, advancements such as serration pattern analysis, and latest recommendations on the use of DIF in cutaneous disorders.

Autoimmune diseases, autoantibody status and silicosis in a cohort of 1238 workers from the artificial stone benchtop industry

ObjectivesAutoimmune disorders are multifactorial but occupational exposures have long been implicated, including respirable crystalline silica (RCS). A modern epidemic of silicosis is emerging internationally, associated with dry processing of engineered...