Journal articles on the topic 'Autoimmune diseases Molecular diagnosis'
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1
Mihai, Sidonia, and Cassian Sitaru. "Immunopathology and molecular diagnosis of autoimmune bullous diseases." Journal of Cellular and Molecular Medicine 11, no. 3 (May 2007): 462–81. http://dx.doi.org/10.1111/j.1582-4934.2007.00033.x.
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Andrade, Luis E. C. "Future perspective for diagnosis in autoimmune diseases." Anais da Academia Brasileira de Ciências 81, no. 3 (September 2009): 367–80. http://dx.doi.org/10.1590/s0001-37652009000300004.
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Human beings have taken successive approaches for the understanding and management of diseases. Initially brewed in supernatural concepts and mystical procedures, a vigorous scientific approach has emerged on the grounds of fundamental disciplines such as anatomy, microbiology, biochemistry, physiology, immunology, pathology, and pharmacology. The resulting integrated knowledge contributed to the current classification of diseases and the way Medicine is carried out today. Despite considerable progress, this approach is rather insufficient when it comes to systemic inflammatory conditions, such as systemic lupus erythematosus, that covers clinical conditions ranging from mild pauci-symptomatic diseases to rapidly fatal conditions. The treatment for such conditions is often insufficient and novel approaches are needed for further progress in these areas of Medicine. A recent breakthrough has been achieved with respect to chronic auto-inflammatory syndromes, in which molecular dissection of underlying gene defects has provided directions for target-oriented therapy. Such approach may be amenable to application in systemic auto-immune diseases with the comprehension that such conditions may be the consequence of interaction of specific environmental stimuli and an array of several and interconnected gene polymorphisms. On the bulk of this transformation, the application of principles of pharmacogenetics may lead the way towards a progressively stronger personalized Medicine.
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Martinescu, Alina, Irina Franciuc, and Loredana-Mariana Aftenie. "HLA typing in autoimmune diseases." ARS Medica Tomitana 18, no. 3 (August 1, 2012): 130–34. http://dx.doi.org/10.2478/v10307-012-0025-7.
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Abstract Genome scan, linkage and association studies have identified CMH genes in the genetic determinism of most autoimmune diseases, affecting approximately 5% of the population. The susceptibility conferred by HLA alleles does not influence the development of autoimmunity in general, but rather the probability of some disorders. From extremely high number of known HLA alleles, less than 30 are associated with diseases, and fewer than 10 are involved in the strongest associations. The aim of this study was to determine HLA genes in autoimmune diseases. The method used for the assignment of HLA alleles was molecular genotyping, primarily by the sequence specific oligonucleotide hybridization method (SSO), and when required, by the sequence specific primers method (SSP). Molecular genotyping was performed in 282 cases of diabetes mellitus type 1, Hashimoto thyroiditis, Graves’ disease and ankylosing spondylitis. HLA typing in patients with autoimmune diseases is important for determining prognosis and genetic counseling. In ankylosing spondylitis HLA typing is used for differential diagnosis. In such studies it’s important to be aware that there is a particular HLA gene expression depending on the geographic area.
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Fisenko, Andrey P., and I. E. Smirnov. "MOLECULAR DIAGNOSIS OF FIBROSIS IN DIFFUSE LIVER DISEASES." Russian Pediatric Journal 22, no. 2 (October 7, 2019): 106–15. http://dx.doi.org/10.18821/1560-9561-2019-22-2-106-115.
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Chronic liver diseases (CLD) held an important place in the structure of pediatric hepatology including viral and autoimmune hepatitis, various forms of liver pathology caused by metabolic disorders. They are characterized by a variety of clinical manifestations, a progressive course with the formation of fibrosis and the possibility of its outcome in liver cirrhosis (LC). Liver puncture biopsy with morphological examination of its tissue is the leading method for determining the stage of liver fibrosis (LF) in CLD children. However, it is not always safe for the patient. Using non-invasive imaging methods, it is impossible to detect intermediate stages of fibrosis and it is not always possible to detect signs of CL. Therefore, non-invasive markers of LF, based on the identification of various molecular compounds involved in the formation of components of the extracellular matrix (ECM) or acting as activators of fibrogenesis, are necessary. Hyaluronic acid, collagen type IV, matrix metalloproteinases-2 and -9, a tissue inhibitor of matrix metalloproteinases-1, transforming growth factor beta1, showing diagnostic value for non-invasive monitoring of the development of LF, are well studied among them.
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Fournel, S., and S. Muller. "Synthetic Peptides in the Diagnosis of Systemic Autoimmune Diseases." Current Protein & Peptide Science 4, no. 4 (August 1, 2003): 261–76. http://dx.doi.org/10.2174/1389203033487126.
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Toro-Domínguez, Daniel, and Marta E. Alarcón-Riquelme. "Precision medicine in autoimmune diseases: fact or fiction." Rheumatology 60, no. 9 (May 18, 2021): 3977–85. http://dx.doi.org/10.1093/rheumatology/keab448.
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Abstract Much is said about precision medicine, but its real significance and potential are far from certain. Several studies in each of the autoimmune diseases have provided important insights into molecular pathways, but the use of molecular studies, particularly those looking into transcriptome pathways, has seldom approached the possibility of using the data for disease stratification and then for prediction, or for diagnosis. Only the type I IFN signature has been considered for therapeutic purposes, particularly in the case of SLE. This review provides an update on precision medicine, on what can be translated into clinical practice and on what single-cell molecular studies contribute to our knowledge of autoimmune diseases, focusing on a few examples. The main message is that we should try to move from precision medicine of established diseases to preventive medicine in order to predict the development of disease.
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Mesko, Bertalan, Szilard Poliska, and Laszlo Nagy. "Gene expression profiles in peripheral blood for the diagnosis of autoimmune diseases." Trends in Molecular Medicine 17, no. 4 (April 2011): 223–33. http://dx.doi.org/10.1016/j.molmed.2010.12.004.
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Lee, Diane. "Locating the PTPN22 Gene in Families with Multiple Diagnosis of Autoimmune Disorders (41.5)." Journal of Immunology 184, no. 1_Supplement (April 1, 2010): 41.5. http://dx.doi.org/10.4049/jimmunol.184.supp.41.5.
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Abstract While working at NIAID, I examined the PTPN22 gene, which encodes for the lymphoid protein tyrosine phosphatase (PTP), and has been shown to be associated with susceptibility to autoimmune disorders. PTP functions in a coordinated manner with protein tyrosine kinases in the regulation of signaling responses. Kinases are involved with controlling the amplitude of a signaling response and phosphatases are important for controlling the rate and duration of the response. From this laboratory experience, I developed an immunology unit for high school molecular biology and biotechnology classes. This is an intensive month long unit which introduces the first and second lines of defense in the immune system. This unit incorporates routine laboratory practices, such as polymerase chain reaction or PCR, restriction digest and analysis to identify individuals’ susceptibility towards autoimmune diseases. Upon completion of this unit, students will gain an understanding of the immune system through the PTPN22 allele and its effects on autoimmune diseases. The concluding unit activity has students study a family pedigree chart with multiple autoimmune diseases. The PTPN22 gene is isolated from the DNA of non-affected members from this pedigree chart, through the process of PCR. Using restriction digest and analysis, individuals’ DNA is tested to determine the presence of the PTPN22 allele and to establish autoimmune disease susceptibility.
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Alghamdi, Mohammed F., and Elrashdy M. Redwan. "Advances in the diagnosis of autoimmune diseases based on citrullinated peptides/proteins." Expert Review of Molecular Diagnostics 21, no. 7 (June 7, 2021): 685–702. http://dx.doi.org/10.1080/14737159.2021.1933946.
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Yeste, Ada, and Francisco J. Quintana. "Antigen Microarrays for the Study of Autoimmune Diseases." Clinical Chemistry 59, no. 7 (July 1, 2013): 1036–44. http://dx.doi.org/10.1373/clinchem.2012.194423.
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BACKGROUND The immune response involves the activation of heterogeneous populations of T cells and B cells that show different degrees of affinity and specificity for target antigens. Although several techniques have been developed to study the molecular pathways that control immunity, there is a need for high-throughput assays to monitor the specificity of the immune response. CONTENT Antigen microarrays provide a new tool to study the immune response. We reviewed the literature on antigen microarrays and their advantages and limitations, and we evaluated their use for the study of autoimmune diseases. Antigen arrays have been successfully used for several purposes in the investigation of autoimmune disorders: for disease diagnosis, to monitor disease progression and response to therapy, to discover mechanisms of pathogenesis, and to tailor antigen-specific therapies to the autoimmune response of individual patients. In this review we discuss the use of antigen microarrays for the study of 4 common autoimmune diseases and their animal models: type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, and multiple sclerosis. CONCLUSIONS Antigen microarrays constitute a new tool for the investigation of the immune response in autoimmune disorders and also in other conditions such as tumors and allergies. Once current limitations are overcome, antigen microarrays have the potential to revolutionize the investigation and management of autoimmune diseases.
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Műzes, Györgyi, and Ferenc Sipos. "Primer immunhiány és autoimmun betegségek." Orvosi Hetilap 159, no. 23 (June 2018): 908–18. http://dx.doi.org/10.1556/650.2018.31064.
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Abstract: Primary immunodeficiencies consist of a group of genetically heterogeneous immune disorders affecting distinct elements of the innate and adaptive immune system. Patients with primary immunodeficiency are more prone to develop not only recurrent infections, but non-infectious complications, like inflammatory or granulomatous conditions, lymphoproliferative and solid malignancies, autoinflammatory disorders, and a broad spectrum of autoimmune diseases. The concomitant appearance of primary immunodeficiency and autoimmunity appears to be rather paradoxical, therefore making the diagnosis of immunodeficiency patients with autoimmune complications challenging. Mutations of one or more genes playing a fundamental role in immunoregulation and/or immune tolerance network are thought to be responsible for primary immunodeficiencies. The diverse immunological abnomalities along with the compensatory and excessive sustained inflammatory response result in tissue damage and finally in manifestation of organ-, cell-specific or systemic autoimmune diseases. Several forms of primary immunodeficiency disorders are characterized by a variety of specific autoimmune phenomena. This overview addresses the spectrum of autoimmune diseases associated with primary immunodeficiencies, and explores the molecular and cellular mechanisms underlying abnormalities of the immune system. The case presented finally highlights that both the recognition of autoimmune diseases in association with immunodeficiencies and the diagnosis of immunodefiency in those phenotypes with predominant autoimmunity could be challenging. Orv Hetil. 2018; 159(23): 908–918.
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Signore, Alberto, Kelly Luz Anzola, Sveva Auletta, Michela Varani, Agnese Petitti, Marta Pacilio, Filippo Galli, and Chiara Lauri. "Current Status of Molecular Imaging in Inflammatory and Autoimmune Disorders." Current Pharmaceutical Design 24, no. 7 (May 14, 2018): 743–53. http://dx.doi.org/10.2174/1381612824666180130115153.
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In the field of inflammation imaging, nuclear medicine techniques can be considered as a non-invasive tool to early detect pathophysiological changes in affected tissues. These changes usually occur before clinical onset of symptoms and before the development of anatomical changes, that are commonly detected by radiological procedures. This is particularly important for prognostic purposes, therapy decision making and for therapy follow-up. Here we review the current state-of-the art of nuclear medicine for diagnostic purposes in different conditions characterized by a chronic inflammation, such as vulnerable atherosclerotic plaques, vasculitis, rheumatoid arthritis, Sjogren syndrome, autoimmune thyroid diseases, inflammatory bowel diseases, Coeliac disease, Type 1 diabetes mellitus and other immunological diseases. Overall, we describe several different approaches based on radiolabeled cells, peptides and antibodies or FDG. It emerges the role of PET and of hybrid cameras in particular (SPECT/CT and PET/CT) for diagnosis of these disorders and for therapy decision making and followup.
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Prieto-Peña, D., B. Atienza-Mateo, M. A. González-Gay, R. Blanco, and M. Lopez-Hoyos. "POS1346 CLINICAL ASSOCIATIONS OF ANTI-RO52 ANTIBODIES IN PATIENTS WITH SYSTEMIC AUTOIMMUNE RHEUMATIC DISEASES." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 955.2–955. http://dx.doi.org/10.1136/annrheumdis-2021-eular.1729.
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Background:Anti-SSA/Ro antibodies (Abs) can target Ro60 and Ro52 antigens. The presence of anti-Ro60 Abs has been widely described in patients with systemic autoimmune rheumatic diseases (SARDs). However, the clinical implication of anti-Ro52 Abs for the diagnosis and management of SARDs remains unclear.Objectives:To assess the clinical associations of anti-Ro52 antibodies in patients with high clinical suspicion of SARDs.Methods:We retrieved the clinical records of all patients with positive anti-Ro52 Abs tested in our hospital between November 2017 and September 2020. Patients were divided into 3 groups: 1) anti-Ro52+Ro60 + 2) antiRo52+Ro60- 3) antiRo52+Ro60+ with other Abs. A comparative study between groups was performed.Results:57 patients (43 women/14 men; mean age 62.1±13.6 years) with antiRo52+ Abs were identified. Final diagnosis were: undifferentiated connective tissue disease (UCTD) (n=13), anti-synthetase/overlap myositis (n=12), Sjögren’s syndrome (n=7), interstitial pneumonia with autoimmune features (IPAF) (n=6), scleroderma (n=4), systemic lupus erythematosus (n=2), dermatomyositis (n=2), other systemic inflammatory diseases (n=3). In 8 (14%) patients the diagnosis of inflammatory diseases was finally ruled out. 27 patients were classified in the Ro52+Ro60+ group, 11 in the Ro52+Ro60- group and 19 Ro52+ with other Abs. Patients with Ro52+Ro60- were younger and more often women than patients with Ro52+Ro60+.Interstitial lung disease (ILD) was less frequent in patients with Ro52+Ro60-(Table 1). Isolated Ro52 Abs were more frequently associated with UCTD, while IPAF was more commonly found in patients with anti-Ro52+Ro60+ Abs (Table 1 and Figure 1).Figure 1.Conclusion:Anti Ro52 Abs determination has clinical implications in the diagnosis of SARDs.Table 1.Anti-Ro52+Ro60+(n=27)Anti-Ro52+Ro60-(n=11)Anti-Ro52+Ro60+ with other Abs(n=19)Age (years), mean ± SD65.7 ± 10.053.8 ± 18.0*61.7 ± 13.6Sex (females), n (%)19 (70.4)10 (90.9) *14 (73.7)Clinical manifestations at anti-Ro52 determination, n (%)Arthralgias/arthritis18 (66.7)7 (63.6)14 (73.7)Raynaud’s phenomenon9 (33.3)4 (36.4)9 (47.4)Myopathy4 (14.8)1 (9.1)2 (10.5)Final diagnosis, n (%)Systemic lupus erythematosus0 (0)0 (0)2 (10.5)Sjögren’s syndrome3 (11.1)1 (9.1)4 (21.1)Scleroderma1 (3.7)03 (15.8)Undifferentiated connective tissue disease3 (11.1)7 (63.6) **3 (15.8)Overlap myositis7 (25.9)1 (9.1)4 (21.1)Dermatomyositis1 (3.7)01 (5.3)IPAF5 (18.5) **00Other systemic inflammatory diseases3 (11.1)00Non inflammatory disease4 (14.8)2 (18.2)2 (10.5)Comorbidities, n (%)ILD11 (40.7)1 (9.1) **7 (36.8)Malignancy5 (18.5)1 (9.1)0 (0.0)* p< 0.05 (Ro52+Ro60+ vs Ro52+Ro60-)** p< 0.05 (Ro52+Ro60+ vs Ro52+Ro60- vs Ro52+Ro60+ with other Abs)Disclosure of Interests:None declared
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Wajda, Anna, Larysa Sivitskaya, and Agnieszka Paradowska-Gorycka. "Application of NGS Technology in Understanding the Pathology of Autoimmune Diseases." Journal of Clinical Medicine 10, no. 15 (July 28, 2021): 3334. http://dx.doi.org/10.3390/jcm10153334.
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NGS technologies have transformed clinical diagnostics and broadly used from neonatal emergencies to adult conditions where the diagnosis cannot be made based on clinical symptoms. Autoimmune diseases reveal complicate molecular background and traditional methods could not fully capture them. Certainly, NGS technologies meet the needs of modern exploratory research, diagnostic and pharmacotherapy. Therefore, the main purpose of this review was to briefly present the application of NGS technology used in recent years in the understanding of autoimmune diseases paying particular attention to autoimmune connective tissue diseases. The main issues are presented in four parts: (a) panels, whole-genome and -exome sequencing (WGS and WES) in diagnostic, (b) Human leukocyte antigens (HLA) as a diagnostic tool, (c) RNAseq, (d) microRNA and (f) microbiome. Although all these areas of research are extensive, it seems that epigenetic impact on the development of systemic autoimmune diseases will set trends for future studies on this area.
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Wiedermann, Franz J., Petra Innerhofer, Josef Margreiter, Dietmar Fuchs, and Wolfgang Schobersberger. "Procalcitonin and Neopterin in Infectious Diseases." Pteridines 10, no. 3 (August 1999): 125–32. http://dx.doi.org/10.1515/pteridines.1999.10.3.125.
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Summary Procalcitonin, a new inflammation parameter, has been shown to be markedly increased in patients with severe bacterial and parasitic infections, septic shock, and multiple organ failure. In contrast, in severe viral infections or inflammatory reactions of non-infectious origin (e.g. toxic acute respiratory distress syndrome or toxic pancreatitis) as well as in autoimmune disorders, there is little or moderate increase of procalcitonin serum levels. Therefore procalcitonin may be used for diHerential diagnosis of bacterial versus non-bacterial inflammation. Furthermore, procaicitonin correlates with the severity of infection and sepsis and it is considered to be a valid parameter t()r monitoring both the severity and the course of sepsis and multiple organ failure as well as the success of surgical and intensive therapy in critically ill patients. Neopterin production is closely associated with activation of the cellular immune system. High neopterin levels are found in several inflamlnatory diseases and certain malignancies. Neopterin measurements are useful for monitoring allograft recipients to detect immunological complications. In autoimmune diseases, neopterin concentrations reflect the extent and activity of disease. In infectious diseases, neopterin helps in the differential diagnosis of acute viral and bacterial infections and provides prognostic information in human immunodeficiency virus disease and in patients with multiple trauma and sepsis. In this article the clinical application of procalcitonin and neopterin in infectious diseases is reviewed, and special emphasis is given to clinical situations in which the combined determination of both parameters, neoprerin and procalcitonin, is able to suppon ditkrential diagnosis.
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Pierro, Antonio, Alessandro Posa, Tiziana Addona, Antonella Petrosino, Vittorio Galasso, Alessandro Tanzilli, Sara Niro, Fernando Antonio Simone, Savino Cilla, and Roberto Iezzi. "Magnetic Resonance Imaging of Autoimmune Demyelinating Diseases as a Diagnostic Challenge for Radiologists: Report of Two Cases and Literature Review." Life 12, no. 4 (March 28, 2022): 488. http://dx.doi.org/10.3390/life12040488.
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The magnetic resonance characteristics of autoimmune demyelinating diseases are complex and represent a challenge for the radiologist. In this study we presented two different cases of detected autoimmune demyelinating diseases: one case of acute disseminated encephalomyelitis and one case of neuromyelitis optica, respectively. Expected and unexpected findings of magnetic resonance imaging examination for autoimmune demyelinating diseases were reported in order to provide a valuable approach for diagnosis. In particular, we highlight, review and discuss the presence of several uncommon imaging findings which could lead to a misinterpretation. The integration of magnetic resonance imaging findings with clinical and laboratory data is necessary to provide a valuable diagnosis.
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Troshina, Ekaterina A. "Immunoendocrinology — issues and challenges of today." Problems of Endocrinology 66, no. 4 (December 7, 2020): 4–8. http://dx.doi.org/10.14341/probl12615.
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The World Health Organization has declared this century to be the century of autoimmune diseases. These include a whole spectrum of endocrine disorders, with type 1 diabetes mellitus, thyropathies, autoimmune polyglandular syndromes (APS), adrenal insufficiency and others, are among the most severe chronic non-infectious diseases in humans. Both the etiology and pathogenesis of autoimmune endocrinopathies are being actively studied, the concepts of the manifestation and progression of these diseases have already been formed, data on the genetic predisposition to one or another autoimmune damage to the endocrine system organs have been obtained, prenatal diagnosis of APD is being actively developed and introduced, attempts are being made to edit the genome in order to prevent their development. Despite this, there are still enough «white spots» in understanding the processes of induction and implementation of the mechanisms of autoimmunity in a particular person. The close connection of the immune and endocrine systems is obvious. The key question is: what is still primary, a genetic predisposition to «breakdown» of the immune system, leading to the development of an autoimmune endocrine disease, or some external influence that can cause direct damage to the endocrine organ (up to its destruction), leading in the end to the breakdown of immune tolerance and the launch of a cascade of autoimmune processes that aggravate an endocrine disorder? Modern advances not only in endocrinology, but also in immunology, molecular genetics, cell biology, etc. are absolutely necessary to clarify the relationship of immuno-inflammatory, hormonal and metabolic disorders in the pathogenesis of endocrine diseases at the cellular and molecular level and to develop new methods of prevention, early diagnosis, predicting the course and effectiveness of therapy for autoimmune endocrinopathies.
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Freites, D., I. Perez-Sancristobal, L. Lopez Pedraza, M. P. Álvarez Hernandez, I. Hernandez, J. I. Colomer, A. Madrid García, et al. "POS1253 MORTALITY RATE RELATED TO COVID - 19 IN RHEUMATIC AND MUSCULOSKELETAL DISEASES (RMDs)." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 910.1–910. http://dx.doi.org/10.1136/annrheumdis-2021-eular.3731.
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Background:Spain has been one of the countries most impacted by the COVID-19 pandemic. Among Spanish patients, 56,799 deaths have been reported. Although we have been in this situation of pandemic for a year, studies that show risk mortality rates in patients with rheumatic diseases continue to be scarce.Objectives:In patients with rheumatic and musculoskeletal diseases (RMDs) and infected with Covid – 19, a) we want to assess the mortality rate (MR) related to COVID-19; and b) to analyze the role of RMDs in mortality risk.Methods:An observational longitudinal study was conducted during the epidemic peak in Madrid (1stMar to 20thMay2020). All patients attended at the rheumatology outpatient clinic of a tertiary hospital with a diagnosis of RMDs and SARS - CoV 2 infection were included (according to a medical diagnosis or confirmed with a positive SARS-CoV-2 PCR diagnostic test). All patients were included since the time of COVID-19 diagnosis. Main outcome: death related to COVID-19 infection. Independent variable: type of RMDs including: autoimmune (systemic autoimmune conditions (SAC) and inflammatory joint disease (IJD)) and non–autoimmune (mechanical diseases and inflammatory diseases (microcrystalline arthritis and tendonitis)). Covariates: sociodemographic, comorbidities, chronic use of corticoids prior to COVID-19 infection. Survival techniques were used to estimate the MR related to COVID-19, given per 1,000 persons-month with a 95% confidence interval [CI]. The time of observation comprised the elapsed time between the date of COVID-19 diagnosis of infection until the date of patient’s death, or end of study. Cox multiple regression analysis was run to examine the effect of autoimmune RMDs compared to non-autoimmune RMDs on mortality risk adjusted by sex, age and comorbidities. Results were expressed by Hazard Ratio (HR) and [CI].Results:406 patients were included with RMD and Covid – 19 infection with a total follow-up 642.5 patients-month. 69.21% were women with a mean age at diagnosis of 60 ± 15.26 years. The evolution time from the diagnosis of rheumatic disease was 8 ± 8.38 years. 26% had comorbidity at baseline. 25% were chronically on corticoids prior to the infection. Of the 406 patients, 244 (60.09%) had non-autoimmune RMD (157 mechanic, 87 inflammatory) and 162 (39.9%) (106 (65.43%) IJD, 56 (34.56%) systemic condition) had autoimmune RMD. Of the 406 patients, 45 (11%) died during the follow-up, being 12± 14 days the mean time from infection to death (P50: 6[2-12] and a maximum of 60 days). MR was estimated in 70.03 [52.28-93.79] per 1,000 persons-month. MR was higher for men (MR 105[68-163]) than for women (MR 55 [37.2-81.6]) and in older people (MR <60: 4.4, [0.6-31.7]; MR 60-75 years: 38.7[17.3-86.2]; MR >75Years: 486 [354-1668]). The HR of mortality in autoimmune RMDs compared to non-autoimmune RMDs did not achieved statistical significance (HR: 1.39 [0.77-2.5], p=0.27). After adjusting for confounders, we did not find higher risk of mortality among the different types of RMDs (HR autoimmune vs non-autoinmunes: HR: 1.12 [0.6-2.02], p=0.7; HR IJD vs SAC; 1.5 [0.6-3.6], p=0.34; HR non-autoimmune vs SAC: 1.1 [0.5-2.5], P=0.7). Age (HR: 1.12; [1.10-1.15], p<0.001), and the presence of comorbidities (HR: 2.05; [1.08-3.89], p=0.027) increased the Mortality risk.Conclusion:In patients with RMD and COVID-19 infection, we found a mortality rate of 7 per 100 persons-month. This study shows that the mortality risk related to COVID-19 is similar between autoimmune and non-autoimmune diseases after adjusting by confounders. We also found that age and comorbidities are risk factors for mortality related to COVID-19 infection.References:[1]Jorge A, et al. Temporal trends in severe COVID-19 outcomes in patients with rheumatic disease: a cohort study. Lancet Rheumatol. Epub ahead of print 2021..[2]Bonfá E, et al. How COVID-19 is changing rheumatology clinical practice. Nat Rev Rheumatol 2021; 17: 11–15.[3]Hyrich KL, Machado PM. Rheumatic disease and COVID-19: epidemiology and outcomes. Nature Reviews Rheumatology 2020; 17: 71–72.Disclosure of Interests:None declared
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Ringer, A., A. M. Smichowski, R. Gomez, B. M. Virasoro, L. Martinez, E. Bertiller, C. Siegrist, et al. "POS1334 OCULAR CICATRICIAL PEMPHIGOID: IS THERE AN ASSOCIATION WITH AUTOIMMUNE DISEASES?" Annals of the Rheumatic Diseases 81, Suppl 1 (May 23, 2022): 1005.1–1005. http://dx.doi.org/10.1136/annrheumdis-2022-eular.1425.
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BackgroundOcular Cicatricial Pemphigoid (OCP) is an infrequent, systemic cicatricial immune-mediated disease, belonging to the group of membranous-mucosal pemphigoids (MMP). Due to the possibility of coexistence of multiple autoimmune diseases (ADs), OCP could be associated with other diseases. In the literature, association of OCP and ADs is reported in 9-35% of patients, but most reports correspond to MMP.ObjectivesTo assess the prevalence of autoimmune diseases associated with OCP and to analyse clinical, laboratorial and treatment associations between these entities.MethodsA multicentre cross-sectional study of patients with a diagnosis (clinical and/or by biopsy) of OCP derived from ophthalmology was performed.The population was divided into two groups according to their association or not with other ADs. Clinical, laboratorial and treatment variables were described and compared between both groups. In addition, a multivariate descriptive logistic regression analysis was performed to identify variables that could suggest the association between OCP and ADs.ResultsA total of 88 patients were recruited, 66 (75%) females, with a mean age at diagnosis of 64.3 years (SD 11.9). The median follow-up time was 1 year. The diagnosis was done by biopsy in 86,8%. Ocular bilateral disease was present in 95,3% of patients. There was a median delay from symptoms onset to diagnosis of 2 years. A history of malignancy was reported in 13,6%. Extraocular involvement was evidenced in 11,5% (4% compromised skin and 9,1% other mucous membranes). Regarding the previous clinical findings, no statistically significance was found between the groups with and without ADs. Systemic treatment was depicted as follows: oral corticosteroids (60,2%) (p-value < 0.001), corticosteroids pulses (5,7%), dapsone (3,4%), methotrexate (79,5%), mycophenolate (15,9%), azathioprine (23,9%), rituximab (5,7%), immunoglobulin (1,1%); topical corticosteroids (96,6%) and ocular infiltration (2,3%). The group associated ADs included 24 patients (27.3%). Within them, the most prevalent diagnosis was Sjogren’s syndrome (13.6%), followed by Hashimoto´s thyroiditis (9,1%) and rheumatoid arthritis (3,4%). Most of the patients presented Foster stages 1 (45.3%) and 2 (29.3%) at diagnosis. In the ADs group, statistically significant associations were observed with ANA, SS-A and SS-B antibodies, rheumatoid factor, and hypergammaglobulinemia. In the descriptive multivariate logistic regression model, it was detected that hypergammaglobulinemia was associated with ADs and OCP, adjusted for age, sex, smoking, skin and mucosal involvement, and erythrocyte sedimentation rate (OR 8.7; 95% CI 1.6 to 46.8; p= 0.012), Table 1.Table 1.Multiple logistic regression analysis with OCP associated with ADs as dependent variable.ORCI95P valueGender0.20.04 - 1.10.07Age at diagnosis1.020.9 - 1.10.25Smoking0.50.1 - 1.70.26Skin and mucosa compromise1.20.2 - 8.20.83ESR0.980.95 - 1.020.58Hypergammaglobulinemia8.71.6 - 46.80.012ESR: Erythrocyte Sedimentation Rate. OR: Odd Ratio. CI95: confidence intervalConclusionDue to the autoimmune nature of OCP, it could coexist with other ADs. In this research, it was observed that more than a quarter of the population presented with such association and hypergammaglobulinemia could suggest it. A systematic search for this coexistence should be carried out to avoid sequelae or incomplete treatment in pathologies that are currently potentially treatable.References[1]Lamberts A et al. European guidelines on diagnosis and management of mucous membrane pemphigoid, initiated by the European Academy of Dermatology and Venereology – Part I. 2021;1750–64.[2]Schmidt E et al. European Guidelines on diagnosis and management of mucous membrane pemphigoid, initiated by the European Academy of Dermatology and Venereology – Part II. 2021;1926–48.[3]Narla S, Silverberg JI. Associations of pemphigus or pemphigoid with autoimmune disorders in US adult inpatients. J Am Acad Dermato. 2019;15-25.AcknowledgementsOn behalf of the Study Working Group of Rheumatological Ocular Diseases, Argentinian Society of Rheumatology.Disclosure of InterestsNone declared
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Kapaki, Elisabeth, Aigli G. Vakrakou, and Fotini Boufidou. "Novel CSF Biomarkers Tracking Autoimmune Inflammatory and Neurodegenerative Aspects of CNS Diseases." Diagnostics 13, no. 1 (December 27, 2022): 73. http://dx.doi.org/10.3390/diagnostics13010073.
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The accurate diagnosis of neuroinflammatory (NIDs) and neurodegenerative (NDDs) diseases and the stratification of patients into disease subgroups with distinct disease-related characteristics that reflect the underlying pathology represents an unmet clinical need that is of particular interest in the era of emerging disease-modifying therapies (DMT). Proper patient selection for clinical trials and identifying those in the prodromal stages of the diseases or those at high risk will pave the way for precision medicine approaches and halt neuroinflammation and/or neurodegeneration in early stages where this is possible. Towards this direction, novel cerebrospinal fluid (CSF) biomarker candidates were developed to reflect the diseased organ’s pathology better. Μisfolded protein accumulation, microglial activation, synaptic dysfunction, and finally, neuronal death are some of the pathophysiological aspects captured by these biomarkers to support proper diagnosis and screening. We also describe advances in the field of molecular biomarkers, including miRNAs and extracellular nucleic acids known as cell-free DNA and mitochondrial DNA molecules. Here we review the most important of these novel CSF biomarkers of NIDs and NDDs, focusing on their involvement in disease development and emphasizing their ability to define homogeneous disease phenotypes and track potential treatment outcomes that can be mirrored in the CSF compartment.
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ATKINSON, JANE C. "The Role of Salivary Measurements in the Diagnosis of Salivary Autoimmune Diseases." Annals of the New York Academy of Sciences 694, no. 1 Saliva as a D (September 1993): 238–51. http://dx.doi.org/10.1111/j.1749-6632.1993.tb18357.x.
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Ometto, Francesca, Lara Friso, Davide Astorri, Costantino Botsios, Bernd Raffeiner, Leonardo Punzi, and Andrea Doria. "Calprotectin in rheumatic diseases." Experimental Biology and Medicine 242, no. 8 (November 28, 2016): 859–73. http://dx.doi.org/10.1177/1535370216681551.
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Calprotectin is a heterodimer formed by two proteins, S100A8 and S100A9, which are mainly produced by activated monocytes and neutrophils in the circulation and in inflamed tissues. The implication of calprotectin in the inflammatory process has already been demonstrated, but its role in the pathogenesis, diagnosis, and monitoring of rheumatic diseases has gained great attention in recent years. Calprotectin, being stable at room temperature, is a candidate biomarker for the follow-up of disease activity in many autoimmune disorders, where it can predict response to treatment or disease relapse. There is evidence that a number of immunomodulators, including TNF-α inhibitors, may reduce calprotectin expression. S100A8 and S100A9 have a potential role as a target of treatment in murine models of autoimmune disorders, since the direct or indirect blockade of these proteins results in amelioration of the disease process. In this review, we will go over the biologic functions of calprotectin which might be involved in the etiology of rheumatic disorders. We will also report evidence of its potential use as a disease biomarker. Impact statement Calprotectin is an acute-phase protein produced by monocytes and neutrophils in the circulation and inflamed tissues. Calprotectin seems to be more sensitive than CRP, being able to detect minimal residual inflammation and is a candidate biomarker in inflammatory diseases. High serum levels are associated with some severe manifestations of rheumatic diseases, such as glomerulonephritis and lung fibrosis. Calprotectin levels in other fluids, such as saliva and synovial fluid, might be helpful in the diagnosis of rheumatic diseases. Of interest is also the potential role of calprotectin as a target of treatment.
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Tsoukalas, Dimitris, Vassileios Fragoulakis, Evangelos Papakonstantinou, Maria Antonaki, Athanassios Vozikis, Aristidis Tsatsakis, Ana Maria Buga, Mihaela Mitroi, and Daniela Calina. "Prediction of Autoimmune Diseases by Targeted Metabolomic Assay of Urinary Organic Acids." Metabolites 10, no. 12 (December 8, 2020): 502. http://dx.doi.org/10.3390/metabo10120502.
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Autoimmune diseases (ADs) are chronic disorders characterized by the loss of self-tolerance, and although being heterogeneous, they share common pathogenic mechanisms. Self-antigens and inflammation markers are established diagnostic tools; however, the metabolic imbalances that underlie ADs are poorly described. The study aimed to employ metabolomics for the detection of disease-related changes in autoimmune diseases that could have predictive value. Quantitative analysis of 28 urine organic acids was performed using Gas Chromatography-Mass Spectrometry in a group of 392 participants. Autoimmune thyroiditis, inflammatory bowel disease, psoriasis and rheumatoid arthritis were the most prevalent autoimmune diseases of the study. Statistically significant differences were observed in the tricarboxylate cycle metabolites, succinate, methylcitrate and malate, the pyroglutamate and 2-hydroxybutyrate from the glutathione cycle and the metabolites methylmalonate, 4-hydroxyphenylpyruvate, 2-hydroxyglutarate and 2-hydroxyisobutyrate between the AD group and the control. Artificial neural networks and Binary logistic regression resulted in the highest predictive accuracy scores (66.7% and 74.9%, respectively), while Methylmalonate, 2-Hydroxyglutarate and 2-hydroxybutyrate were proposed as potential biomarkers for autoimmune diseases. Urine organic acid levels related to the mechanisms of energy production and detoxification were associated with the presence of autoimmune diseases and could be an adjunct tool for early diagnosis and prediction.
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Monov, S., R. Shumnalieva, and D. Monova. "POS1184 AUTOIMMUNE SYSTEMIC DISEASES AND COVID-19 INFECTION." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 873.1–873. http://dx.doi.org/10.1136/annrheumdis-2021-eular.1254.
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Background:Covid-19 infection poses a serious challenge for immune-compromised patients. This is likely due to a combination of immune dysfunction, immunosuppressive therapy and excess co-morbidities. Little is known about the impact of Coronavirus disease 2019 (COVID-19) in patients with inflammatory autoimmune systemic diseases.Objectives:The aim of this study is to describe clinical characteristics of patients with autoimmune systemic diseases and COVID-19, and to identify baseline variables associated with a severe infection requiring hospitalization.Methods:A telephone survey investigating the impact of COVID-19 on patients with systemic lupus erythematosus (SLE), systemic sclerosis (SSc), inflammatory arthritis (rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis), idiopathic inflammatory myopathies (IIM), ANCA-associated vasculitis (AAV) was administered. Data extraction included diagnosis, disease activity status, demographics, disease duration, occupational exposure, adherence to social distancing advise, therapy, comorbidities, and laboratory tests. Covid-19 was classified as definite diagnosis of Covid-19 disease: presence of symptomatic Covid-19 infection, confirmed by a nasopharyngeal SARS-CoV-2 polymerase chain reaction test. Comparisons between patients with or without hospitalization were performed.Results:512 patients (median age 53,4 ± 14,3 years) with autoimmune systemic diseases (234 IA, 182 SLE, 42 SSc, 31 IIM, 23 AAV) were included in the study. 89 patients (58 woman, 31 men) developed at least one symptom (fever, asthenia, chills, cough, sore throat, dyspnea, chest pain, headaches, arthralgias, myalgias, odynophagia, diarrhea, conjunctivitis, hypo-, ageusia, hypo-, anosmia) of COVID-19 and were PCR test positive. Of patients with COVID – 19 infection 54 patients were treated with methylprednisolone, 36 – with methotrexate, 34 – with hydroxychloroquine, 26- with biologics, 10 - with azathioprine, 6 - with cyclophosphamide prior to their COVID-19 illness.Conclusion:Covid-19 is more frequent in the subgroup of patients without therapy with modifying anti-rheumatic drugs, which might play some protective role against the most harmful manifestations of Covid-19. 21 patients required hospitalization - these were more frequently men, older and with comorbidities (cardio-respiratory illness, renal diseases, diabetes mellitus). Male sex, previous coronary and lung disease, serum creatinine level, proteinuria, glucocorticoids use > 5 mg/day, were associated to hospitalization. Patients with inflammatory arthritis do not seen to be at higher risk for infection or a severe course of COVID-19.References:[1]Monova, D., S. Monov. Mechanisms of kidney injury in patients with COVID-19. Nephrology, dialysis and transplantation, 2020; 26 (4): 5-15.[2]Monova, D., S. Monov. Kidney injures in COVID-19. Nephrology, dialysis and transplantation, 2020; 26 (4): 16-34.Disclosure of Interests:Simeon Monov Speakers bureau: AMGEN, PFIZER, NOVARTIS, ABBVIE, ROCHE, ASTRA-ZENECA, Russka Shumnalieva: None declared, Daniela Monova: None declared.
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Montone, Kathleen T. "The Molecular Genetics of Inflammatory, Autoimmune, and Infectious Diseases of the Sinonasal Tract: A Review." Archives of Pathology & Laboratory Medicine 138, no. 6 (June 1, 2014): 745–53. http://dx.doi.org/10.5858/arpa.2013-0038-ra.
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Context.— The sinonasal tract is frequently affected by a variety of nonneoplastic inflammatory disease processes that are often multifactorial in their etiology but commonly have a molecular genetic component. Objective.— To review the molecular genetics of a variety of nonneoplastic inflammatory diseases of the sinonasal tract. Data Sources.— Inflammatory lesions of the sinonasal tract can be divided into 3 main categories: (1) chronic rhinosinusitis, (2) infectious diseases, and (3) autoimmune diseases/vasculitides. The molecular diagnosis and pathways of a variety of these inflammatory lesions are currently being elucidated and will shed light on disease pathogenesis and treatment. Conclusions.— The sinonasal tract is frequently affected by inflammatory lesions that arise through complex interactions of environmental, infectious, and genetic factors. Because these lesions are all inflammatory in nature, the molecular pathology surrounding them is most commonly due to upregulation and down-regulation of genes that affect inflammatory responses and immune regulation.
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Ramani, Sheetal, Ayush Pathak, Vikram Dalal, Anamika Paul, and Sagarika Biswas. "Oxidative Stress in Autoimmune Diseases: An Under Dealt Malice." Current Protein & Peptide Science 21, no. 6 (August 21, 2020): 611–21. http://dx.doi.org/10.2174/1389203721666200214111816.
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Oxidative stress is the off-balance of antioxidants and free radicals. All kinds of diseases and disorders give rise to oxidative damage including autoimmune diseases. An autoimmune disorder is a pathological condition characterized by the breakdown of self-tolerance of the immune system in the body. Immunological processes against tissues and organs lead to enhanced oxidative stress and, in turn, misbalance of oxidative stress aggravates the pathobiology of the disease. Highly reactive nature of free radicals, for example hydroxyl and superoxide ions, alters DNA, protein, and lipids in the body which augment the pathologic processes of diseases. The damaged biomolecules are responsible for systemic complications and secondary disease co-morbidities. In this review, we discuss the role of oxidative stress in some incapacitating autoimmune diseases like Rheumatoid arthritis, Systemic Lupus Erythematosus, Type 1 Diabetes, and Multiple Sclerosis. Oxidative stress plays a central and course defining role in these diseases and it has become a necessity to study the pathological mechanism involved in oxidative stress to better understand and offer treatment holistically. Presently there are no clinically available parameters for measurement and treatment of pathological oxidative stress, therefore it requires intensive research. Probably, in the future, the discovery of easily detectable markers of oxidative stress can aid in the diagnosis, prognosis, and treatment of progressively destructive autoimmune diseases.
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Camins-Fàbregas, J., V. Ortiz-Santamaria, N. Busquets-Pérez, A. Cuervo, I. Cañas Alcántara, R. Acal, E. Hadad-Casorelli, A. Guilabert, and J. Sola. "AB1051 KIKUCHI FUJIMOTO DISEASE, IS IT SLE?" Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1815.3–1816. http://dx.doi.org/10.1136/annrheumdis-2020-eular.5460.
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Background:Kikuchi-Fujimoto disease (KFD) is a rare entity characterized by adenopathies and fever. It raises a broad differential diagnosis that includes lymphoproliferative disorders, infections and systemic autoimmune diseases, and diagnostic confirmation is always by histology, which shows histiocytic necrotizing lymphadenitis. Although its course is generally benign and self-limited, it can be associated both at the time of diagnosis and during follow-up with systemic autoimmune diseases, the most frequent of which is systemic lupus erythematosus (SLE).Objectives:To describre the clinical and analytical characteristics of patients diagnosed with KFD and the development of systemic autoimmune disease.Methods:Patients diagnosed with KFD during the 1990s and 2020s are collected in a regional hospital (Granollers General Hospital). The clinic is documented at the diagnosis of EKF, the appearance of systemic autoimmune disease during follow-up and its clinical and analytical characteristics.Results:A total of 7 patients with EKF were diagnosed. All of them women with a mean age at diagnosis of 30 years. Diagnosis was made in all cases with compatible clinical symptoms, fever and lymphadenopathy, and lymph node biopsy confirming histiocytic necrotizing lymphadenitis. At the time of diagnosis, a patient was also diagnosed with SLE. During the follow-up, 4 of the 6 remaining patients developed clinical manifestations compatible with SLE (3 of them with systemic manifestations and a case of subacute cutaneous lupus. The mean time of onset of SLE was 34 months (between 6 months and 5 years). All of them received treatment with hydroxychloroquine, with good response to treatment.The clinical and analytical characteristics are presented in Table 1 below.Conclusion:In our center, 5 of the 7 patients (71%) diagnosed with EKF developed manifestations compatible with SLE. The importance of the diagnosis of EKF lies precisely in the possible association with systemic autoimmune disease, the most common being SLE, so it is recommended that patients be monitored to identify those who develop associated autoimmune disease.Disclosure of Interests:None declared
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Gundabolu, Krishna, Bhavana J. Dave, Carmelita J. Alvares, Jeffrey J. Cannatella, Vijaya R. Bhatt, Lori J. Maness, Zaid S. Al-Kadhimi, Rana K. Zabad, and Allison M. Cushman-Vokoun. "The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation." Case Reports in Genetics 2022 (March 1, 2022): 1–5. http://dx.doi.org/10.1155/2022/6977041.
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Chronic myelomonocytic leukemia (CMML) is a rare but distinct hematological neoplasm with overlapping features of myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN). Individuals with CMML have persistent monocytosis and bone marrow dyspoiesis associated with various constitutional symptoms like fevers, unintentional weight loss, or night sweats. It is established that there is a strong association of CMML with preceding or coexisting autoimmune diseases and systemic inflammatory syndromes affecting around 20% of patients. Various molecular abnormalities like TET2, SRSF2, ASXL1, and RAS are reported in the pathogenesis of CMML, but no such mutations have been described to explain the strong association of autoimmune diseases and severe inflammatory phenotype seen in CMML. Germline mutation in SH2B adaptor protein 3 (SH2B3) had been reported before to affect a family with autoimmune disorders and acute lymphoblastic leukemia. In this report, we describe the first case of a female subject with many years of preceding history of multiple sclerosis before the diagnosis of CMML. We outline the evidence supporting the pathogenic role of SH2B3 p.E395K germline mutation, connecting the dots of association between autoimmune diseases and CMML genesis.
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Korolev, M., Y. Kurochkina, N. Banshhikova, V. Omelchenko, A. Akimova, E. Letyagina, and O. Poveschenko. "AB0023 DENDRITIC CELLS AS A PROMINENT MARKERS OF AUTOIMMUNE DISEASES." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 1045.2–1045. http://dx.doi.org/10.1136/annrheumdis-2021-eular.2293.
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Background:Dendritic cells (DCs) are known to contribute to the pathogenesis of different autoimmune diseases. It is clear nowadays the role of DCs in rheumatoid arthritis (RA) but not well investigated in Axial spondylitis (AxSpA). DCs are a heterogeneous population and can be divided into groups: myeloid (mDCs) and plasmacytoid (pDCs). DCs can induce both immune response and tolerance.Objectives:To investigate the subpopulations of peripheral blood myeloid and plasmacytoid DCs in patients with early stage of RA (duration of illness up to 12 months) and AS.Methods:The study include sixty five patients with early forms of diseases including 55 patients with RA and 10 patients with AxSpA. Diagnosis RA was established according ACR/EULAR criteria (2010). Diagnosis AxSpA was established according ASAS criteria. All patients received conventional synthetic DMARDs. Thirty patients with osteoarthritis (OA) used as a control group. Analysis of the content of the B-lymphocytes, myeloid and plasmacytoid DCs was carried out by flow cytometry. B-lymphocytes, subtypes of peripheral blood DCs were characterized by the following phenotypes: myeloid DCs (CD3-CD14-CD19-HLA-DR + CD11c + CD123-), plasmacytoid DCs (CD3-CD14-CD19-HLA-DR + CD11c-CD123 +), B-lymphocytes (CD19 +). Analyses were performed before treatment and after 3 and 6 months.Results:Patients with early RA are characterized by significant evaluation of the population of myeloid DCs in comparison of patients with osteoarthritis (25.3% vs 21.5, p=0.005). Furthermore, the difference was found in the number of cells with the phenotype B-lymphocytes: 5.7% vs 3.1%, p = 0.0007). No significant differences were observed in the number of plasmocytoid DCs. After 3 and 6 month of observation we detected reducing amount of myeloid DCs 26.7% vs 20.1% vs 16.4% respectively. Disease activity according to DAS28 droped to low (4.32 to3.06, p=0.03). Patients with AxSpA are characterized a lower mDCs levels in compared with RA (19.3% vs 26.7, p=0.07). After 6 month of investigation we detected decreasing mDCs (19.3% to 14.2%, p=0.05). The percent of pDCs were constant and did not differ from the level of healthy donors.Conclusion:The data obtained indicate that early form of rheumatic diseases namely rheumatoid arthritis and axial spondylitis have the common features such as the dominance of mDCs and their decreasing in reduction of activity of disease.Disclosure of Interests:None declared
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Rigopoulou, Eirini I., and George N. Dalekos. "Current Trends and Characteristics of Hepatocellular Carcinoma in Patients with Autoimmune Liver Diseases." Cancers 13, no. 5 (March 1, 2021): 1023. http://dx.doi.org/10.3390/cancers13051023.
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Hepatocellular carcinoma (HCC), the commonest among liver cancers, is one of the leading causes of mortality among malignancies worldwide. Several reports demonstrate autoimmune liver diseases (AILDs), including autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC) to confer increased risk of hepatobiliary malignancies, albeit at lower frequencies compared to other liver diseases. Several parameters have been recognized as risk factors for HCC development in AIH and PBC, including demographics such as older age and male sex, clinical features, the most decisive being cirrhosis and other co-existing factors, such as alcohol consumption. Moreover, biochemical activity and treatment response have been increasingly recognized as prognostic factors for HCC development in AIH and PBC. As available treatment modalities are effective only when HCC diagnosis is established early, surveillance has been proven essential for HCC prognosis. Considering that the risk for HCC is not uniform between and within disease groups, refinement of screening strategies according to prevailing demographic, clinical, and molecular risk factors is mandated in AILDs patients, as personalized HCC risk prediction will offer significant advantage in patients at high and/or medium risk. Furthermore, future investigations should draw attention to whether modification of immunosuppression could benefit AIH patients after HCC diagnosis.
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Ferro, F., C. Baratè, E. Elefante, F. Ricci, S. Balducci, G. Governato, G. Fulvio, et al. "THU0264 MYELOID MALIGNANCIES, SYSTEMIC AUTOIMMUNE DISEASES AND CARDIOVASCULAR RISK: AN UNDER-REPORTED ASSOCIATION?" Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 359.2–359. http://dx.doi.org/10.1136/annrheumdis-2020-eular.4752.
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Background:The association between systemic autoimmune diseases (ADs) and lymphoproliferative malignancies is well established; nonetheless, few studies have investigated the prevalence and prognostic impact of myeloid malignancies on systemic autoimmune conditions.Objectives:To investigate the frequency of myeloid malignancies (i.e myelodysplastic syndrome (MDS) and chronic, either Philadelphia-positive or Philadelphia-negative, myeloproliferative disorders (MPNs)) in patients with ADs and their influence on the ADs clinical course and vice-versa.Methods:A retrospective systematic search through the electronic health records of the patients admitted at our Rheumatology University Hospital from 2009 and 2019 was performed to select those presenting with ADs and MDS or MPNs. To refine the search the ICD-9-CM diagnosis codes for MDS/MPNs were utilized. Medical charts of eligible patients were retrieved and data were collected with regard to demographics, type of AD, AD duration, prior treatments, serum laboratory indices, bone marrow aspiration and biopsy data. Categorical variables were compared using chi square test and Fisher’s test; continuous variables were compared using Student’s t-test. A 2-tailed value of p <0.05 was taken to indicate statistical significance.Results:Out of the medical records of 5040 patients, we identified 51 patients (31 F: 20 M, mean age: 61 years (15)) with AD and myeloid malignancies: 17/51 with AD and MDS and 34/51 with AD and MPNs. No demographic differences were observed in the two subgroups. Regarding MDS, anaemia was the most common haematologic presenting finding (15/17, 88%), while the most common diagnosis was refractory anemia with excess of blasts (RAEB I/II) (5/17, 29%) followed by sideroblastic anemia (2/17, 12%). In the MPNs subgroup, 12/34 patients (35%) had a diagnosis of chronic myeloid leukemia (CML), 9/34 (26%) had a myelofibrosis (MF), 7/34 (21%) had an essential thrombocythemia (ET) and 6/34 (18%) had a polycythemia vera (PV). The JAK2 V617F mutation was detected in 100%, 57%, and 66% of PV, ET, and MF patients. Regarding the temporal appearance of myeloid malignancy, MDS occurred concurrently (9/17) or followed (7/17) the diagnosis of ADs in the vast majority of the cases whereas MPNs generally preceded the diagnosis of ADs (19/34). In MDS the most commonly diagnosed ADs were seronegative arthritis (5/17, 29 %), large and small vessel vasculitis (4/17, 23%) and Systemic Lupus Erythematosus (3/17, 17%). In patients with MPNs the diagnosis of rheumatoid arthritis (2/9, 22%), and antiphospholipid syndrome (3/9, 33%) were often associated with MF, whereas anti-Ro52 (TRIM21) positive systemic connective tissue disorders (4/7, 57%) were more frequently detected in ET. Cardiovascular events were observed in 14/51 (27%): 4/17 (23%) in MDS, 3/12 (25%) in CML and 7/22 (32%) in Philadelphia-negative MPNs. The latter seven cardiovascular events were all observed in patients presenting JAK2 V617F mutation (p=0.05).Conclusion:Our study is limited by its retrospective design. However, our results documented that the frequency of MDS and MPNs in ADs is not negligible and might be considered in the assessment of cardiovascular risk in systemic autoimmunity. Moreover, it has been reported that, under viral infection, TRIM21 is up-regulated by activation of the IFN/JAK/STAT pathway; interestingly, anti-Ro52 (TRIM21) were over-represented in MPN, where the JAK/STAT signal is hyper activated. This could explain also our observation that frequently the onset of ADs follows the diagnosis of MPN.Disclosure of Interests:Francesco Ferro: None declared, Claudia Baratè Speakers bureau: paid as a speaker by Jansen, Abbvie, Novartis, Amgen, Elena Elefante: None declared, Federica Ricci: None declared, Serena Balducci: None declared, Gianmaria Governato: None declared, Giovanni Fulvio: None declared, Marta Mosca: None declared, Mario Petrini Speakers bureau: paid as a speaker by Jansen, Abbvie, Novartis, Amgen, Sara galimberti Speakers bureau: paid as a speaker by Jansen, Abbvie, Novartis, Amgen, Chiara Baldini: None declared
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Patrizio, Armando, Silvia Martina Ferrari, Giusy Elia, Francesca Ragusa, Sabrina Rosaria Paparo, Valeria Mazzi, Alessandro Antonelli, and Poupak Fallahi. "Graves’ Disease Following SARS-CoV-2 Vaccination: A Systematic Review." Vaccines 10, no. 9 (September 1, 2022): 1445. http://dx.doi.org/10.3390/vaccines10091445.
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(1) Background: Autoimmune diseases, including autoimmune endocrine diseases (AIED), are thought to develop following environmental exposure in patients with genetic predisposition. The vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) could represent a new environmental trigger for AIED, including Graves’ disease (GD). (2) Methods: We performed a literature search of MEDLINE/PubMed databases regarding thyroid dysfunction after SARS-CoV-2 vaccination since 1 January 2020 to 31 July 2022, considering only cases of thyrotoxicosis that meet the 2016 American Thyroid Association guidelines criteria for the diagnosis of GD and arising after administration of the anti-SARS-CoV-2 vaccine, regardless of the number of doses. (3) Results: A total of 27 articles were identified, consisting of case reports or case series, of which 24 describe the appearance of 48 new diagnoses of GD and 12 GD recurrences arising after the administration of the anti-SARS-CoV-2 vaccine, and 3 papers that instead report only 3 cases of GD relapse following vaccination. (4) Conclusions: physicians should be aware of the possibility of developing GD and other autoimmune sequelae following SARS-CoV-2 vaccination. Regardless of the underlying pathogenetic mechanisms (autoimmune/inflammatory syndrome induced by adjuvants (ASIA syndrome), cytokines induction, molecular mimicry, and cross-reactivity), an individual predisposition seems to be decisive for their development.
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Nasri, Peiman, Seyed Esmaeil Hosseini-Kordkhyli, Azar Jafari-Koulaee, Silva Hovsepian, Hossein Saneian, Majid Khademian, and Fatemeh Famouri. "Simultaneous Presentation of Autoimmune Hepatitis and Wilson's Disease: A Systematic Review Study." Journal of Pediatrics Review 9, no. 4 (October 1, 2021): 277–92. http://dx.doi.org/10.32598/jpr.9.4.988.1.
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Background: The specialists should identify the features of Wilson disease and autoimmune hepatitis when both affect a patient to adopt appropriate treatment. Objectives: This study was conducted to determine features of the patient, disease, diagnostic studies, and therapeutic measures in cases of simultaneity of Wilson disease and autoimmune hepatitis. Methods: To find evidence related to the study objectives, we searched databases such as Barakat knowledge network system, SID, Magiran, Google Scholar, Web of Science, ProQuest, Springer, ScienceDirect, Medline via PubMed, and Scopus with specified Persian and English keywords, including “Wilson’s Disease”, “Autoimmune”, and “Hepatitis”. The inclusion criteria for the studies were 1) the study was observational and 2) the study was published in Persian or English. The exclusion criteria included low-quality studies based on the score obtained from the checklist. The obtained studies were screened in terms of titles, abstracts, and full text, and finally, the qualified studies entered the review process. The relevant data were extracted according to a designed checklist. Results: Finally, 10 studies were included in the review process. Information about 14 patients was reported. The Mean±SD age of the participants in the studies was 19±11 years. The direction of diagnosis was from autoimmune hepatitis to Wilson disease in 8 cases and from Wilson disease to autoimmune hepatitis in 3 cases. The simultaneity of autoimmune hepatitis and Wilson disease was considered in 3 patients with no primary and secondary diagnosis. Conclusions: The comorbidity of Wilson disease and autoimmune hepatitis is uncommon but is important. In the presence of relevant symptoms in these patients, the comorbidity of these two diseases should be considered. Accordingly, additional assessments such as serum ceruloplasmin, urinary 24-h copper, molecular genetic testing, MRI, serological tests, anti-nuclear antibody, anti-mitochondrial antibody, anti-smooth muscle antibody, complement level, gamma globulin, IgG, albumin, Kayser-Fleischer ring eye examination, and liver biopsy should be considered for correct diagnosis. If appropriate treatment was started for the disease with a diagnosis of Wilson disease or autoimmune hepatitis, but the response to treatment was insufficient, it is better to consider the simultaneous occurrence of two diseases or the initial misdiagnosis.
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Krupa, Anna, and Irina Kowalska. "The Kynurenine Pathway—New Linkage between Innate and Adaptive Immunity in Autoimmune Endocrinopathies." International Journal of Molecular Sciences 22, no. 18 (September 13, 2021): 9879. http://dx.doi.org/10.3390/ijms22189879.
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The kynurenine pathway (KP) is highly regulated in the immune system, where it promotes immunosuppression in response to infection or inflammation. Indoleamine 2,3-dioxygenase 1 (IDO1), the main enzyme of KP, has a broad spectrum of activity on immune cells regulation, controlling the balance between stimulation and suppression of the immune system at sites of local inflammation, relevant to a wide range of autoimmune and inflammatory diseases. Various autoimmune diseases, among them endocrinopathies, have been identified to date, but despite significant progress in their diagnosis and treatment, they are still associated with significant complications, morbidity, and mortality. The precise cellular and molecular mechanisms leading to the onset and development of autoimmune disease remain poorly clarified so far. In breaking of tolerance, the cells of the innate immunity provide a decisive microenvironment that regulates immune cells’ differentiation, leading to activation of adaptive immunity. The current review provided a comprehensive presentation of the known role of IDO1 and KP activation in the regulation of the innate and adaptive arms of the immune system. Significant attention has been paid to the immunoregulatory role of IDO1 in the most prevalent, organ-specific autoimmune endocrinopathies—type 1 diabetes mellitus (T1DM) and autoimmune thyroiditis.
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Perez-Sancristobal, I., L. Lopez Pedraza, M. P. Álvarez Hernandez, J. I. Colomer, A. Madrid García, B. Fernandez, C. Martinez Prada, et al. "POS1251 ROLE OF SYSTEMIC AUTOINMUNE CONDITIONS IN HOSPITAL ADMISSIONS RELATED TO COVID-19." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 908.3–909. http://dx.doi.org/10.1136/annrheumdis-2021-eular.3676.
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Background:The COVID-19 pandemic continues worldwide and has had a strong impact on public health, quality of life and economy of the general population. To date, the number of infections and deaths are still increasing. From the beginning of the pandemic, efforts were intensified to identify risk factors for development of the severe form of COVID-19. In this sense underlying medical comorbidities have been shown to have a worse prognosis in these patients.Objectives:In patients with rheumatic and musculoskeletal diseases (RMDs) and infected with Covid – 19, we aim to investigate the role of systemic autoimmune conditions compared to other type of RMDs in severity of COVID-19 in terms of hospital admissions.Methods:An observational longitudinal study was conducted during the epidemic peak in Madrid (1stMar to 20thMay2020). All patients attended at the rheumatology outpatient clinic of a tertiary hospital with a diagnosis of RMDs and Covid-19 infection were included (according to a medical diagnosis or confirmed with a positive SARS-CoV-2 PCR diagnostic test). All patients were included since the time of COVID-19 diagnosis. Main variable: hospital admission related to Covid -19 infection. Independent variable: type of RMD including: autoimmune (systemic autoimmune conditions and inflammatory joint disease (IJD)) and nonautoimmune (mechanical diseases, and inflammatory diseases (microcrystalline arthritis and tendonitis)). Covariates: sociodemographic, clinical and therapy used. Statistical analysis: description of the sociodemographic, clinical and treatment characteristics of the patients. A multivariate logistic regression adjusted by age, sex and comorbidities was used to evaluate the risk of the different types of RMDs in hospital admissions related to Covid-19. The results were expressed as OR with its corresponding confidence interval (95% CI).Results:406 patients were included with RMDs and Covid- 19 infection. 69.21% were women with a mean age at diagnosis of 60 ± 15.26 years. The evolution time from the diagnosis of RMD was 8 ± 8.38 years. 26% had comorbidity at baseline. 25% were chronically on corticoids prior to the infection. Of the 406 patients, 244 (60.09%) had non-autoimmune RMD (157 mechanic, 87 inflammatory) and 162 (39.9%) (106 (65.43%) IJD, 56 (34.56%) systemic autoimmune condition) had autoimmune RMD. 36% of all patients were admitted (31% from not autoimmune RMDs and 43% from autoimmune RMD (p = 0,013). The risk of hospital admission in autoimmune RMD compared to non-autoimmune RMD was higher (OR: 1.68; [1.11-2.54], p=0.013), being the risk of systemic autoimmune condition compared to both IJD and non-autoimmune RMD higher (OR IJD: 0.41 [0.21-0.51], p=0.01; OR non-autoimmune: 0.33; [0.18-0.61]; p=0.000). After adjusting by confounders, autoimmune RMD had higher risk of hospital admissions compared to the rest (OR: 1.75; [1.04-2.95]; p=0.03), and specifically systemic autoimmune condition had higher risk compared to IJD (OR of IJD 0.33; [0.14-.076]; p=0.009) and compared to non–autoimmune (OR non autoimmune 0.28; [0.13-0.59], p=0.001). Advanced age (OR: 1.10; [1.07-1.12], p<0.001), male (OR 0.58; [0.33-1.02], p=0.06), and more number of comorbidities (OR 1.39; [1.02-1.90] p=0.03) also increased the risk of hospitalization related to COVID-19.Conclusion:One third of the RMD patients infected with COVID-19 required hospital admission. This study shows that patients with autoimmune and specifically with systemic autoimmune conditions have a higher risk of hospitalization related to COVID-19. We also show that advanced age, male sex and a higher number of comorbidities can contribute to worsen the prognosis of the COVID-19 disease.References:[1]Jorge A, et al. Temporal trends in severe COVID-19 outcomes in patients with rheumatic disease: a cohort study. Lancet Rheumatol. Ahead of print 2021.[2]Hyrich KL, Machado PM. Rheumatic disease and COVID-19: epidemiology and outcomes. Nature Reviews Rheumatology 2020; 17: 71–72.[3]Bonfá E, et al. How COVID-19 is changing rheumatology clinical practice. Nat Rev Rheumatol 2021; 17: 11–15.Disclosure of Interests:None declared
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Kiseleva, E., K. Mikhailopulo, O. Sviridov, G. Novik, Y. Knirel, and E. Szwajcer Dey. "The role of components of Bifidobacterium and Lactobacillus in pathogenesis and serologic diagnosis of autoimmune thyroid diseases." Beneficial Microbes 2, no. 2 (June 1, 2011): 139–54. http://dx.doi.org/10.3920/bm2010.0011.
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During recent years, researchers have been focusing on the concept of an infectious etiology of autoimmune diseases. The most discussed theory is molecular mimicry, i.e. the emergence of autoreactive clones of T- and B-lymphocytes as a result of cross-immune response to homologous bacterial or viral antigen. Information on the role of probiotic microorganisms (PM) in the molecular mechanisms of autoimmune thyroid diseases (ATD) is limited. Using proteins and immunogenic peptides databanks and relevant computer programs, the homology between the amino acid sequences of thyroid peroxidase (TPO) and thyroglobulin (Tg), which are potential B- and T-cell epitopes of these antigens, and proteins of bifidobacteria and lactobacilli was established. Moreover, we have found components of cells of Bifidobacterium bifidum 791, Bifidobacterium adolescentis 94 BIM, Bifidobacterium longum B379M and Lactobacillus plantarum B-01 that selectively bind human antibodies to TPO (anti-TPO) and antibodies to Tg (anti-Tg) and compete with natural antigens for the binding of anti-TPO and anti-Tg in ELISA. Additionally, a three-fold difference was observed between the probability of detecting antibodies (Abs) to the antigens of L. plantarum B-01 and B. bifidum 791 in serum samples containing and those not containing anti-TPO. On the whole, our data are arguments in favour of the assumption of the possible role of PM of the genera Bifidobacterium and Lactobacillus in triggering ATD by the mechanism of molecular mimicry. The data obtained in silico and in vitro should be proven by use of animal models and clinical studies for extrapolations to the whole body. Possible antigenic properties of components/proteins of bifidobacteria and lactobacilli, selectively binding anti-TPO and anti-Tg should be taken into consideration. Natural human Abs to these bacterial components are probably able to cross-react with the TPO and Tg in the ELISA for detection of anti-TPO and anti-Tg, which are serologic markers of ATD. It can lead to unspecific false positive results and, hence, to an incorrect diagnosis.
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Svetlova, Galina N., Tamara L. Kuraeva, Dmitriy L. Alekseev, and Valentina A. Peterkova. "Combination of lipoatrophic diabetes mellitus with systemic scleroderma and phenylketonuria." Problems of Endocrinology 63, no. 2 (July 4, 2017): 130–33. http://dx.doi.org/10.14341/probl2017632130-133.
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We present the first report of a rare form of lipoatrophic diabetes mellitus in a child with partial autoimmune lipodystrophy combined with systemic scleroderma and phenylketonuria. We describe the features of clinical manifestations, diagnosis, and therapy. To exclude the monogenic form of lipodystrophy, we performed a molecular genetic analysis of genes ZMPSTE24, LMNA, BSCL2, PLIN1, PTRF, LMNB2, POLD1, AKT2, CIDEC, PIK3CA, PPARG, PSMB8, CAV1, PPP1R3A, and AGPAT2 that are responsible for the development of lipodystrophy and insulin resistance. No mutations were found. The presence of systemic scleroderma of autoimmune genesis enabled the diagnosis of autoimmune lipodystrophy. Treatment of insulin-resistant diabetes mellitus in lipodystrophy is a challenge: biguanide therapy is dangerous due to impairment of liver functions, and insulin therapy is not effective enough; administration of high doses is required. The presence of phenylketonuria further complicates compliance with the dietary regimen. The combination of three rare diseases ― lipoatrophic diabetes, phenylketonuria, and systemic scleroderma ― in one patient has not been found in the available literature.
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Pulito-Cueto, Verónica, Sara Remuzgo-Martínez, Fernanda Genre, Belén Atienza-Mateo, Víctor M. Mora-Cuesta, David Iturbe-Fernández, Leticia Lera-Gómez, et al. "Angiogenic T Cells: Potential Biomarkers for the Early Diagnosis of Interstitial Lung Disease in Autoimmune Diseases?" Biomedicines 10, no. 4 (April 5, 2022): 851. http://dx.doi.org/10.3390/biomedicines10040851.
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(1) Background: We explored, for the first time, the contribution of angiogenic T cells (TAng) in interstitial lung disease associated to autoimmune disease (AD-ILD+) as potential biomarkers of the disease, evaluating their role in the underlying vasculopathy and lung fibrosis. Additionally, the relationship of TAng with clinical manifestations and cellular and molecular endothelial dysfunction-related biomarkers was assessed. (2) Methods: We included 57 AD-ILD+ patients (21 with rheumatoid arthritis (RA)-ILD+, 21 with systemic sclerosis (SSc)-ILD+ and 15 with other AD-ILD+) and three comparative groups: 45 AD-ILD− patients (25 RA-ILD− and 20 SSc-ILD−); 21 idiopathic pulmonary fibrosis (IPF) patients; 21 healthy controls (HC). TAng were considered as CD3+CD184+CD31+ by flow cytometry. (3) Results: A similar TAng frequency was found between AD-ILD+ and IPF, being in both cases lower than that observed in AD-ILD− and HC. A lower TAng frequency was associated with negative Scl-70 status and lower FEV1/FVC ratio in SSc-ILD+, as well as with men in RA-ILD+ and non-specific interstitial pneumonia radiological pattern in other AD-ILD+. No relationship between TAng and endothelial progenitor cells, endothelial cells and vascular endothelial growth factor gene expression and protein levels was disclosed. (4) Conclusions: Our findings suggest TAng as potential biomarkers for the early diagnosis of ILD in AD.
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Greiner, Timothy, James O. Armitage, and Thomas G. Gross. "Atypical Lymphoproliferative Diseases." Hematology 2000, no. 1 (January 1, 2000): 133–46. http://dx.doi.org/10.1182/asheducation.v2000.1.133.133.
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Abstract This review addresses the clinical presentation, pathology, and therapy of several uncommon lymphoid proliferations. Because these lymphoproliferations span the characteristics of reactive polymorphous proliferations to clonal malignant neoplasms, they are often difficult to diagnose and treat effectively. In Section I, Dr. Greiner describes the pathology of the spectrum of atypical lymphoid disorders including Castleman's disease, angioimmunoblastic lymphadenopathy, lymphadenopathy in autoimmune diseases, posttransplant lymphoproliferative disorders, and X-linked lymphoproliferative disorder. The relationship to Epstein-Barr virus (EBV) and human herpsesvirus-8 (HHV-8) is discussed, and molecular diagnostic assays and principles for obtaining proper diagnostic evaluation are emphasized. In Section II, Dr. Armitage presents a practical approach to the management of Castleman's disease. The discussion includes the importance of confirmation of the histological diagnosis and careful staging evaluation, therapeutic options, and the increased risks for infection and lymphoma. The appropriate roles of surgical excision, corticosteroids, and combination chemotherapy are addressed along with alternative strategies such as anti-interleukin-6 and bone marrow transplantation. In Section III, Dr. Gross reviews the treatment of EBV-associated lymphoproliferative disorders in primary immunodeficiencies and in post-transplant patients. He gives an update on the recent molecular discoveries in X-linked lymphoproliferative disorder. Preliminary results of a phase II trial of low-dose cyclophosphamide in posttransplant lymphoproliferative disorders and the use of GM-CSF as preemptive therapy are presented.
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Greiner, Timothy, James O. Armitage, and Thomas G. Gross. "Atypical Lymphoproliferative Diseases." Hematology 2000, no. 1 (January 1, 2000): 133–46. http://dx.doi.org/10.1182/asheducation.v2000.1.133.20000133.
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This review addresses the clinical presentation, pathology, and therapy of several uncommon lymphoid proliferations. Because these lymphoproliferations span the characteristics of reactive polymorphous proliferations to clonal malignant neoplasms, they are often difficult to diagnose and treat effectively.In Section I, Dr. Greiner describes the pathology of the spectrum of atypical lymphoid disorders including Castleman's disease, angioimmunoblastic lymphadenopathy, lymphadenopathy in autoimmune diseases, posttransplant lymphoproliferative disorders, and X-linked lymphoproliferative disorder. The relationship to Epstein-Barr virus (EBV) and human herpsesvirus-8 (HHV-8) is discussed, and molecular diagnostic assays and principles for obtaining proper diagnostic evaluation are emphasized.In Section II, Dr. Armitage presents a practical approach to the management of Castleman's disease. The discussion includes the importance of confirmation of the histological diagnosis and careful staging evaluation, therapeutic options, and the increased risks for infection and lymphoma. The appropriate roles of surgical excision, corticosteroids, and combination chemotherapy are addressed along with alternative strategies such as anti-interleukin-6 and bone marrow transplantation.In Section III, Dr. Gross reviews the treatment of EBV-associated lymphoproliferative disorders in primary immunodeficiencies and in post-transplant patients. He gives an update on the recent molecular discoveries in X-linked lymphoproliferative disorder. Preliminary results of a phase II trial of low-dose cyclophosphamide in posttransplant lymphoproliferative disorders and the use of GM-CSF as preemptive therapy are presented.
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Balázs, Csaba. "The role of hereditary and environmental factors in autoimmune thyroid diseases." Orvosi Hetilap 153, no. 26 (July 2012): 1013–22. http://dx.doi.org/10.1556/oh.2012.29370.
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Autoimmune thyroid diseases are the most common organ-specific autoimmune disorders affecting 5% to 10% of the population in Western countries. The clinical presentation varies from hyperthyroidism in Graves’ disease to hypothyroidism in Hashimoto’s thyroiditis. While the exact etiology of thyroid autoimmunity is not known, the interaction between genetic susceptibility and environmental factors appears to be of fundamental importance to initiate the process of thyroid autoimmunity. The identified autoimmune thyroid disease susceptibility genes include immune-modulating genes, such as the major histocompatibility complex, and thyroid-specific genes, including TSH receptor, thyroglobulin and thyroid peroxidase. The majority of the anti-TSH-receptor antibodies have a stimulating capacity and are responsible for hyperthyroidism. The anti-thyroglobulin- and anti-thyroid peroxidase antibodies belonging to the catalytic type of antibodies destroy the thyrocytes resulting in hypothyroidism. The appearance of anti-thyroid peroxidase antibodies precedes the induction of thyroiditis and the manifestation of hypothyroidism. The molecular analysis of thyroglobulin gene polymorphism is important in the mechanism of autoimmune thyroiditis. The autoantigen presentation by major histocompatibility complex molecules is a key point of the autoimmune mechanism. It has been shown that a HLA-DR variant containing arginine at position 74 of the DRβ1 chain confers a strong genetic susceptibility to autoimmune thyroid diseases, Graves’ disease and Hashimoto’s thyroiditis, while glutamine at position DRβ1-74 is protective. Human thyroglobulin 2098 peptide represents a strong and specific DRβ1-Arg74 binder, while a non-binding control peptide, thyroglobulin 2766 fails to induce this response. Moreover, thyroglobulin 2098 stimulated T-cells from individuals who were positive for thyroglobulin antibodies, demonstrating that thyroglobulin 2098 is an immunogenic peptide capable of being presented in vivo and activating T-cells in autoimmune thyroid diseases. Taken together these findings suggest that thyroglobulin 2098, a strong and specific binder to the disease-associated HLA-DRβ1-Arg74, is a major human T-cell epitope and it participates in the pathomechanism of the autoimmune thyroid disease. The exact nature of the role of environmental factors in the autoimmune thyroid disease is still not well known, but the importance of several factors such as iodine, drugs and infections has been reported. Further knowledge of the precise mechanisms of interaction between environmental factors and genes in inducing thyroid autoimmunity could result in the development of new strategies for diagnosis, prevention and treatment. Orv. Hetil., 2012, 153, 1013–1022.
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Berry, Brent, Stephanie Joppa, Edward Labin, Vikram Puram, Kaci McCleary, H. Brent Clark, and Flavia Nelson. "Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids May Extend above and below Pons and Is Associated with Other Autoimmune Diseases." Life 11, no. 11 (October 21, 2021): 1120. http://dx.doi.org/10.3390/life11111120.
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Many autoimmune diseases can affect the central nervous system, and their varying clinical presentations often confound a straightforward diagnosis. In this report, we describe a unique presentation of CLIPPERS syndrome. To our knowledge, this is the first case to demonstrate significant supratentorial involvement with symmetric and non-confluent lesions in the medial orbitofrontal cortex; additionally, this is the second case to describe an association between diagnoses of hypothyroidism and CLIPPERS.
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Tian, Jing, Giacomo Casella, Yuan Zhang, Abdolmohamad Rostami, and Xing Li. "Potential roles of extracellular vesicles in the pathophysiology, diagnosis, and treatment of autoimmune diseases." International Journal of Biological Sciences 16, no. 4 (2020): 620–32. http://dx.doi.org/10.7150/ijbs.39629.
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Novikova, V. P., A. I. Khavkin, and N. E. Prokopyeva. "IBD-like gastrointestinal disorders in children." Experimental and Clinical Gastroenterology, no. 4 (July 21, 2021): 161–69. http://dx.doi.org/10.31146/1682-8658-ecg-188-4-161-169.
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Traditionally, inflammatory bowel diseases (IBD) ulcerative colitis (UC) and Crohn’s disease (CD). At the same time, there are a number of lesions of the gastrointestinal tract, which can proceed for a long time under the guise of IBD, masking the true cause of the disease. This leads to late diagnosis and, quite often, fatal consequences. These diseases include autoimmune enteropathy (AIE). It is a fairly rare disease characterized by severe diarrhea and immune- mediated damage to the intestinal mucosa.The aim is to describe the criteria of diagnosis, etiology, pathogenesis, epidemiology, clinic and treatment of AIE in children based on an analysis of modern literature.Results. Diagnostic criteria for AIE include chronic diarrhea (lasting more than 6 weeks), malabsorption syndrome, specific histological findings from small bowel biopsy with the exclusion of other causes of villous atrophy. An additional criterion is the presence of antibodies against enterocytes or goblet cells. There are: (1) AIEs associated with syndromes such as IPEX and APECED; (2) an isolated form of GI AIE with antibodies against enterocytes without diseases of the digestive system; and (3) any form of AIE in girls associated with any other autoimmune phenomena. To date, at least five subtypes of AIE are known: Primary AIE (pediatric); Syndromic AIE (pediatric); Primary (sporadic) EIA of adults; Secondary (iatrogenic) AIE of adults; Paraneoplastic AIE. Patients with AIE may have associated autoimmune diseases, including diabetes mellitus, autoimmune hepatitis, alopecia, hypothyroidism, and interstitial nephritis. AIE. is a complex disease and potentially life-threatening, the mortality rate reaches 30% in pediatric practice. The prognosis depends on the age of onset of the disease, the severity of symptoms and the degree of histological damage to the gastrointestinal tract. Along with nutritional support, immunosuppressive therapy, the use of therapy based on modern knowledge in the field of molecular biology can help control the disease.
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Zima, D., O. Bezrukov, E. Zyablitskaya, T. Makalish, E. Golubinskaya, and E. Maksimova. "SEARCH FOR MOLECULAR DIAGNOSTIC MARKERS TO OPTIMIZE SURGICAL TACTICS FOR THYROID DISEASES." Tavricheskiy Mediko-Biologicheskiy Vestnik 23, no. 3 (October 19, 2022): 14–20. http://dx.doi.org/10.29039/2070-8092-2020-23-3-14-20.
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The routine execution of a fine-needle aspiration puncture biopsy is the most informative method for the preoperative diagnosis of thyroid neoplasms, as well as a promising base for improving molecular diagnostics in an endocrine surgery clinic in conjunction with a pathological laboratory. The aim of our work was a comparative analysis of the expression of cell cycle signaling molecules in various thyroid diseases: toxic goiter, adenomatous goiter, autoimmune thyroiditis and papillary cancer. We investigated the quantitative ratio of expression of apoptosis markers CD-95 (Fas-R) and Ki-67 mitosis detected in thyrocytes by immunocytochemistry and immunohistochemistry using standard protocols. The index Z = Fas / (Ki67 + 1) is proposed.
The performed cluster analysis of the Z-index calculated on the basis of punctate immunocytochemistry material allowed us to identify a group of patients relatively uniform in value (in this group, after the operation, the diagnosis of papillary cancer was histologically confirmed in all patients). Marker expression values were 2,3–9,0 for Ki67 and 0,9–4,1 for Fas, and the Z-index was in the range 0,6–3,9. It can be useful for the differential diagnosis of thyroid cancer based on punctate material, which is important when deciding on the amount of surgical intervention, as well as in the morphological substantiation of the prognosis of the disease.
Mathematical analysis showed that if the percentage of fissile nuclei visualized immunohistochemically with the Ki-67 marker is unpromising as a singular diagnostic indicator, then in combination with the apoptosis marker it plays an important role in a comprehensive assessment. These data are also interesting in the context of the pathophysiological pattern of inhibition of the expression of CD95 by tumor cells. This is important to justify the approaches of chemotherapy or immunotherapy of cancer of different tissue belonging.
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Palalane, E., D. Alpizar-Rodriguez, S. Botha, Q. M. S. H. Said-Hartley, G. Calligaro, and B. Hodkinson. "SAT0595 INTERSTITIAL LUNG DISEASE IN SOUTH AFRICAN ADULTS PATIENTS WITH AUTOIMMUNE RHEUMATIC DISEASES." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1256.2–1256. http://dx.doi.org/10.1136/annrheumdis-2020-eular.4888.
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Background:Interstitial lung disease (ILD) is prevalent in patients with autoimmune rheumatic diseases (ARD), leads to significant morbidity and mortality, and is poorly characterized in South Africa.Objectives:To describe the clinical, serological and radiological features of ILD associated with ARD in a tertiary referral hospital.Methods:A cross-sectional study of outpatients attending the rheumatology and respiratory clinics of Groote Schuur Hospital between October 2018 and September 2019. Clinical, serological and radiological features were documented. We compared features of 3 groups of patients: rheumatoid arthritis (RA), systemic sclerosis (SSc) and “Other” autoimmune rheumatic diseases (OARD) which included Idiopathic Inflammatory Myopathies, Mixed Connective Tissue Disease, Systemic Lupus Erythematous, ANCA-associated vasculitis, Sjogren’s Syndrome and overlap syndromes. Factors associated with Usual Interstitial Pneumonia (UIP) were sought by univariate and multivariate analysis. P-values ≤ 0.05 were considered statistically significant. Analyses was performed with STATA 14.0 (Stata Corp LP, USA).Results:Of 124 patients, 29.8 % had RA, 25,8 % SSc and 44.4 % OARD. Most patients were female (86.3%), of mixed racial ancestry (75.0%), and the median (IQR) age was 55 (46-66). Over one-third were smokers, 22.6% had emphysema, and one third had previous pulmonary tuberculosis (PTB) infection. Smoking, emphysema, and previous PTB were higher in RA group but the difference was not statistically significant. All SSc patients and more than two-thirds of RA and OARD patients had gastroesophageal reflux disease (GORD).Similar to reports elsewhere, Nonspecific interstitial pneumonia (NSIP) was the commonest ILD (63.7 %), followed by UIP (26.6%) and other patterns (9.7%). Contrary to other reports, we found similar frequencies of NSIP and UIP patterns in patients with RA. RA patients were significantly older (median (IQR)) age at ILD onset 62 (55-68) years, compared to SSc (49 (38-56) and OARD (42 (33-56) (p < 0.001). The percentage of predicted Forced Vital Capacity (FVC) were significantly worse in SSc and OARD groups and DLCO in OARD. RA diagnosis (OR 3.8, 95% CI 1.5-9.5), older age (0R 1.1, 95% CI 1.0-1.1), COPD (OR 3.2, 95% CI 1.4-8.0), longer ARD-ILD interval, higher FVC (OR 1.0, 95% CI 1.0-1.1) and previous Methotrexate (MTX) use (OR 2.6, 95% CI 1.1-6.0) were significantly associated with UIP. Multivariable analysis showed that only COPD and previous MTX use was associated with UIP (OR 2.8 (95% CI 1.0 – 8.0) and 1.0 (95% CI 1.0 – 1.0) respectively).Regarding MTX exposure, 37.1% of patients were prescribed MTX before ILD diagnosis, and 33.9% continued, started or restarted after ILD diagnosis. No case of acute pneumonitis was documented.Conclusion:ILD was most commonly diagnosed in RA and SSc, with NSIP seen most frequently overall. RA patients presented better Pulmonary function tests despite higher frequency of UIP. The use of MTX seems to not be associated with the development of acute pneumonitis in patients with ILDReferences:[1]Wallace, B., D. Vummidi, and D. Khanna,Management of connective tissue diseases associated interstitial lung disease: a review of the published literature.Current Opinion in Rheumatology, 2016.28(3): p. 236-245.[2]Dellaripa, P.F.,Interstitial lung disease in the connective tissue diseases; a paradigm shift in diagnosis and treatment.Clinical Immunology, 2018.186: p. 71-73.Disclosure of Interests:None declared
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Jia, Hailin, Jing Liu, and Bo Han. "Reviews of Interleukin-37: Functions, Receptors, and Roles in Diseases." BioMed Research International 2018 (2018): 1–14. http://dx.doi.org/10.1155/2018/3058640.
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Interleukin-37 (IL-37) is an IL-1 family cytokine discovered in recent years and has 5 different isoforms. As an immunosuppressive factor, IL-37 can suppress excessive immune response. IL-37 plays a role in protecting the body against endotoxin shock, ischemia-reperfusion injury, autoimmune diseases, and cardiovascular diseases. In addition, IL-37 has a potential antitumor effect. IL-37 and its receptors may serve as novel targets for the study, diagnosis, and treatment of immune-related diseases and tumors.
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Rubin, Daniel, Ayush Batra, Ivana Vodopivec, and Henrikas Vaitkevicius. "Autoimmune Encephalitis in Critical Care: Optimizing Immunosuppression." Seminars in Respiratory and Critical Care Medicine 38, no. 06 (December 2017): 807–20. http://dx.doi.org/10.1055/s-0037-1608771.
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AbstractAutoimmune diseases affecting the nervous systems are a common cause of admission to the intensive care unit (ICU). Although there exist several well-described clinical syndromes, patients more commonly present with progressive neurologic dysfunction and laboratory and radiographic evidence of central nervous system (CNS) inflammation. In the critical care setting, the urgency to intervene to prevent permanent damage to the nervous system and secondary injury from the systemic manifestations of these syndromes often conflicts with diagnostic uncertainty. Furthermore, treatment is limited by current therapeutic agents that remain non-specific for individual diseases, especially for those whose pathophysiology remains unclear. Primary autoimmune, paraneoplastic, parainfectious, and iatrogenic neurologic disorders all share the common underlying pathophysiology of an adaptive immune response directed against an antigen within the nervous system. Several different mechanisms of immune dysfunction are responsible for pathogenesis within each of these categories of disease, and it is at this level of pathophysiology that the most effective and appropriate therapeutic decisions are made. In this review, we outline the basic diagnostic and therapeutic principles in the management of autoimmune diseases of the nervous system in the ICU. We approach these disorders not as lists of distinct clinical syndromes or molecular targets of autoimmunity but rather as clusters of syndromes based on these common underlying mechanisms of immune dysfunction. This approach emphasizes early intervention over precise diagnosis. As our understanding of the immune system continues to grow, this framework will allow for a more sophisticated approach to the management of patients with these complex, often devastating but frequently reversible, neurologic illnesses.
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Mauro, Daniele, Gaetano Barbagallo, Salvatore D`Angelo, Pasqualina Sannino, Saverio Naty, Caterina Bruno, Ignazio Olivieri, Rosa Daniela Grembiale, and Francesco Ursini. "Role of Positron Emission Tomography for Central Nervous System Involvement in Systemic Autoimmune Diseases: Status and Perspectives." Current Medicinal Chemistry 25, no. 26 (September 4, 2018): 3096–104. http://dx.doi.org/10.2174/0929867324666170523144402.
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In the last years, an increasing interest in molecular imaging has been raised by the extending potential of positron emission tomography [PET]. The role of PET imaging, originally confined to the oncology setting, is continuously extending thanks to the development of novel radiopharmaceutical and to the implementation of hybrid imaging techniques, where PET scans are combined with computed tomography [CT] or magnetic resonance imaging[MRI] in order to improve spatial resolution. Early preclinical studies suggested that 18F–FDG PET can detect neuroinflammation; new developing radiopharmaceuticals targeting more specifically inflammation-related molecules are moving in this direction. Neurological involvement is a distinct feature of various systemic autoimmune diseases, i.e. Systemic Lupus Erythematosus [SLE] or Behcet’s disease [BD]. Although MRI is largely considered the gold-standard imaging technique for the detection of Central Nervous System [CNS] involvement in these disorders. Several patients complain of neuropsychiatric symptoms [headache, epilepsy, anxiety or depression] in the absence of any significant MRI finding; in such patients the diagnosis relies mainly on clinical examination and often the role of the disease process versus iatrogenic or reactive forms is doubtful. The aim of this review is to explore the state-of-the-art for the role of PET imaging in CNS involvement in systemic rheumatic diseases. In addition, we explore the potential role of emerging radiopharmaceutical and their possible application in aiding the diagnosis of CNS involvement in systemic autoimmune diseases.
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Szczawinska-Poplonyk, Aleksandra, Kinga Begier, Alicja Dorota, Monika Dabrowska, Dominika Galecka, Kamila Wawrzeniak, and Kamil Wroblewski. "Syndromic immunodeficiencies: a pediatrician’s perspective on selected diseases." Allergologia et Immunopathologia 49, no. 4 (July 1, 2021): 117–36. http://dx.doi.org/10.15586/aei.v49i4.200.
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Background: Syndromic immunodeficiencies are a genetically and pathophysiologically heterogeneous group of inborn errors of immunity. These are characterized by multiple extra immune clinical symptoms and a wide range of immunological phenotypes with increased susceptibility to infections, autoimmune phenomena, immune dysregulation, organ-specificpathology, and malignancy.Objective: To increase the pediatricians’ awareness of this multifaceted group of primary immunodeficiencies in children.Methods: A comprehensive review of genetic background and clinical symptomatology of syndromic immunodeficiencies as well as current diagnostic approach and treatment modalities.Results: From the pediatrician’s perspective, an early-life diagnosis of syndromic immunodeficiencies, which is frequently indispensable for successful life-saving immunocorrection, poses a diagnostic challenge. Increased pediatricians’ awareness to recognize signs and symptoms of these diseases in affected children is of paramount importance. Current advances in molecular biotechnology and immunogenetics, resulting in the implementation of newborn screening and new-generation sequencing, provide informative tools for definitive diagnosis and, in many new disease entities, for their definition and genotype–phenotype delineation and correlation.Conclusions: A broad spectrum of clinical phenotypes in children with syndromic primary immunodeficiencies requires pediatrician’s special attention, that is, individualized multidisciplinary approach under the supervision of a clinical immunologist.