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Sleep & Breathing = Schlaf & Atmung Sep 2018Kleine-Levin syndrome (KLS) is the commonest recurrent sleep disorder, with a prevalence of 1-2 per million population. Clear diagnostic criteria are now defined, but... (Review)
Review
Kleine-Levin syndrome (KLS) is the commonest recurrent sleep disorder, with a prevalence of 1-2 per million population. Clear diagnostic criteria are now defined, but effective treatment remains elusive. The significant body of published literature allows consideration of possible aetiological mechanisms, an understanding of which could guide the development of therapeutic strategies. Functional imaging studies have been inconclusive; although diencephalic abnormalities are a common finding, no consistent pattern has emerged, and these studies have not revealed the mechanism(s) underlying the development of the abnormalities detected. An autoimmune aetiology is consistent with the available data. In this review, we argue that, in order to further our understanding of KLS, there needs to be a co-ordinated international effort to standardise approaches to functional imaging studies, genetic analyses that specifically address the possibility of an autoimmune aetiology, and clinical trials of immunosuppressive therapies.
Topics: Autoimmune Diseases; Humans; Kleine-Levin Syndrome
PubMed: 29532411
DOI: 10.1007/s11325-017-1617-z -
International Journal of Molecular... Aug 2023The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway plays a significant role in health and disease. In this pathway, cGAS, one of the major... (Review)
Review
The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway plays a significant role in health and disease. In this pathway, cGAS, one of the major cytosolic DNA sensors in mammalian cells, regulates innate immunity and the STING-dependent production of pro-inflammatory cytokines, including type-I interferon. Moreover, the cGAS-STING pathway is integral to other cellular processes, such as cell death, cell senescence, and autophagy. Activation of the cGAS-STING pathway by "self" DNA is also attributed to various infectious diseases and autoimmune or inflammatory conditions. In addition, the cGAS-STING pathway activation functions as a link between innate and adaptive immunity, leading to the inhibition or facilitation of tumorigenesis; therefore, research targeting this pathway can provide novel clues for clinical applications to treat infectious, inflammatory, and autoimmune diseases and even cancer. In this review, we focus on the cGAS-STING pathway and its corresponding cellular and molecular mechanisms in health and disease.
Topics: Animals; Adaptive Immunity; Autoimmune Diseases; Autophagy; Interferon Type I; Mammals; Nucleotidyltransferases
PubMed: 37686127
DOI: 10.3390/ijms241713316 -
Immunity, Inflammation and Disease Nov 2023Autoimmune diseases, including rheumatoid arthritis that is the most prevalent rheumatic autoimmune disorder, affect autologous connective tissues caused by the... (Review)
Review
Autoimmune diseases, including rheumatoid arthritis that is the most prevalent rheumatic autoimmune disorder, affect autologous connective tissues caused by the breakdown of the self-tolerance mechanisms of the immune system. During the last two decades, cell-based therapy, including stem cells and none-stem cells has been increasingly considered as a therapeutic option in various diseases. This is partly due to the unique properties of stem cells that divide and differentiate from the specialized cells in the damaged tissue. Moreover, stem cells and none-stem cells, impose immunomodulatory properties affecting the diseases caused by immunological abnormalities such as rheumatic autoimmune disorders. In the present review, the efficacy of cell-based therapy with four main types of stem cells, including mesenchymal stem cells, hematopoietic stem cells, embryonic stem cells, and human amniotic membrane cells, as well as none-stem cells, including regulatory T cells, chimeric antigen receptor T cells, and tolerogenic dendritic cells will be evaluated. Moreover, other related issues, including safety, changes in immunological parameters, suitable choice of stem cell and none-stem cell origin, conditioning regimen, limitations, and complications will be discussed.
Topics: Humans; Arthritis, Rheumatoid; Autoimmune Diseases; Mesenchymal Stem Cells; Immune Tolerance; Immunomodulation
PubMed: 38018576
DOI: 10.1002/iid3.1091 -
Clinical and Experimental Rheumatology Mar 2023Dermatomyositis (DM) is an autoimmune disorder in which clinically amyopathic DM, characterised by hallmark cutaneous findings in the absence of clinical weakness,... (Review)
Review
Dermatomyositis (DM) is an autoimmune disorder in which clinically amyopathic DM, characterised by hallmark cutaneous findings in the absence of clinical weakness, represents 20% of patients. This review will highlight current concepts and recent advances made in DM from a dermatological perspective, with a discussion of skin-predominant DM and its distinct challenges regarding diagnosis and management as well as their implications in clinical trials. An update will be presented with respect to classification criteria, pathogenesis in cutaneous DM, myositis-specific autoantibodies and their associations with cutaneous findings, skin-specific outcome measures and new therapeutics with their efficacy in skin disease.
Topics: Humans; Dermatomyositis; Skin; Myositis; Autoimmune Diseases; Autoantibodies
PubMed: 36622138
DOI: 10.55563/clinexprheumatol/ue71ku -
Blood Apr 2015Ras-associated autoimmune leukoproliferative disorder (RALD) is a chronic, nonmalignant condition that presents with persistent monocytosis and is often associated with... (Review)
Review
Ras-associated autoimmune leukoproliferative disorder (RALD) is a chronic, nonmalignant condition that presents with persistent monocytosis and is often associated with leukocytosis, lymphoproliferation, and autoimmune phenomena. RALD has clinical and laboratory features that overlap with those of juvenile myelomonocytic leukemia (JMML) and chronic myelomonocytic leukemia (CMML), including identical somatic mutations in KRAS or NRAS genes noted in peripheral blood mononuclear cells. Long-term follow-up of these patients suggests that RALD has an indolent clinical course whereas JMML is fatal if left untreated. Immunophenotyping peripheral blood from RALD patients shows characteristic circulating activated monocytes and polyclonal CD10(+) B cells. Distinguishing RALD from JMML and CMML has implications for clinical care and prognosis.
Topics: Adolescent; Adult; Autoimmune Diseases; Child; Child, Preschool; Female; Genes, ras; Humans; Leukemia, Myelomonocytic, Juvenile; Leukocytosis; Male; Middle Aged; Mutation; Young Adult
PubMed: 25691160
DOI: 10.1182/blood-2014-11-567917 -
Annals of Palliative Medicine Jan 2021At the end of the last century, genome-wide association studies revealed a significant genetic association between bipolar disorder and autoimmune diseases.... (Meta-Analysis)
Meta-Analysis
BACKGROUND
At the end of the last century, genome-wide association studies revealed a significant genetic association between bipolar disorder and autoimmune diseases. Subsequently, the theory of immune pathogenesis of bipolar disorder gradually formed, and the research on autoimmune diseases and bipolar comorbidities began to extend to other diseases, but their correlation is still controversial. To explore the differences in the prevalence of bipolar disorder in patients with autoimmune disease and normal healthy people through meta-analysis, and to examine the relationship between bipolar disorder and autoimmune disease by reviewing the relevant literature.
METHODS
The Cochrane, PubMed, and Embase databases were searched by computer from the date of inception of the database to July 2020. The main topics of the search were based on common autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis, psoriasis, multiple sclerosis, ulcerative colitis, Crohn's disease, ankylosing spondylitis, pemphigus, and Sjogren's syndrome. The databases were comprehensively searched for controlled studies regarding the prevalence of bipolar disorder in patients with autoimmune diseases. Review Manager 5.3 software was used for meta-analysis.
RESULTS
In total, 10 cohort and case control studies were included. From these, 16 control groups were extracted based on nine autoimmune diseases. The meta-analysis demonstrated that the incidence of bipolar disorder was significantly increased in patients with autoimmune disease compared to patients without autoimmune disease, [mean difference (MD) =1.54, 95% confidence interval (CI): 1.28-1.86, P<0.00001]. Also, in the meta-analysis based on five cross-sectional analyses (in which a total of five control groups were extracted based on five autoimmune diseases), the high comorbidity rate of autoimmune diseases and bipolar disorder was verified (MD =2.23, 95% CI: 1.62-3.07, P<0.00001).
CONCLUSIONS
The prevalence of bipolar disorder is markedly higher in patients with autoimmune disease. Yet, more basic research is needed to verify the special significance of immune mechanisms in bipolar disorder.
Topics: Autoimmune Diseases; Bipolar Disorder; Cross-Sectional Studies; Genome-Wide Association Study; Humans; Prevalence
PubMed: 33440965
DOI: 10.21037/apm-20-2293 -
Autoimmunity Reviews Nov 2023Autoimmune diseases have specific pathophysiologic mechanisms leading to an increased risk of arterial and venous thrombosis. The risk of venous thromboembolism (VTE)... (Review)
Review
Autoimmune diseases have specific pathophysiologic mechanisms leading to an increased risk of arterial and venous thrombosis. The risk of venous thromboembolism (VTE) varies according to the type and stage of the disease, and to concomitant treatments. In this review, we revise the most common autoimmune disease such as antiphospholipid syndrome, inflammatory myositis, polymyositis and dermatomyositis, rheumatoid arthritis, sarcoidosis, Sjogren syndrome, autoimmune haemolytic anaemia, systemic lupus erythematosus, systemic sclerosis, vasculitis and inflammatory bowel disease. We also provide an overview of pathophysiology responsible for the risk of VTE in each autoimmune disorder, and report current indications to anticoagulant treatment for primary and secondary prevention of VTE.
Topics: Humans; Venous Thromboembolism; Autoimmune Diseases; Arthritis, Rheumatoid; Antiphospholipid Syndrome; Lupus Erythematosus, Systemic
PubMed: 37714419
DOI: 10.1016/j.autrev.2023.103447 -
Cells Jul 2023Rheumatoid arthritis (RA) is a highly prevalent, chronic, and progressive autoimmune disorder primarily affecting joints and muscles. The associated inflammation, pain,... (Review)
Review
Rheumatoid arthritis (RA) is a highly prevalent, chronic, and progressive autoimmune disorder primarily affecting joints and muscles. The associated inflammation, pain, and motor restriction negatively impact patient quality of life (QOL) and can even contribute to premature mortality. Further, conventional treatments such as antiinflammatory drugs are only symptomatic. Substantial progress has been made on elucidating the etiopathology of overt RA, in particular the contributions of innate and adaptive immune system dysfunction to chronic inflammation. Although the precise mechanisms underlying onset and progression remain elusive, the discovery of new drug targets, early diagnosis, and new targeted treatments have greatly improved the prognosis and QOL of patients with RA. However, a sizable proportion of patients develop severe adverse effects, exhibit poor responses, or cannot tolerate long-term use of these drugs, necessitating more effective and safer therapeutic alternatives. Mounting preclinical and clinical evidence suggests that the transplantation of multipotent adult stem cells such as mesenchymal stromal/stem cells is a safe and effective treatment strategy for controlling chronic inflammation and promoting tissue regeneration in patients with intractable diseases, including RA. This review describes the current status of MSC-based therapies for RA as well as the opportunities and challenges to broader clinical application.
Topics: Humans; Quality of Life; Arthritis, Rheumatoid; Mesenchymal Stem Cells; Inflammation; Autoimmune Diseases
PubMed: 37508569
DOI: 10.3390/cells12141905 -
Biomedical Papers of the Medical... 2014Autoimmune pancreatitis (AIP) is the specific type of chronic pancreatitis due to autoimmune background and mechanism. (Review)
Review
INTRODUCTION
Autoimmune pancreatitis (AIP) is the specific type of chronic pancreatitis due to autoimmune background and mechanism.
CHARACTERISTICS
The main clinical symptoms of AIP are obstructive jaundice and abdominal discomfort. The typical histological findings are lymphocytes and IgG4 plasma cells infiltration, fibrosis and venulitis within pancreatic gland. Plasma level of IgG4 is usually extremely high.
DIAGNOSIS
High level IgG4 positive plasma cells in serum, lymphoplasmatic infiltration found on histological staining of pancreatic tissue, "sausage-like" pancreas in ultrasound and CT scans, and response to steroid therapy are crucial for making of diagnosis. Classification of AIP: AIP can be classified into two subtypes. Type 1 was recognized as the pancreatic manifestation of multiorgan disorder, called IgG4 related disease. Type 2 is a pancreas-specific disorder not associated with IgG4, with similar histological signs as type 1, but also with the positivity of GEL (granulocythic epithelial lesion).
THERAPY
Due to its high effectivity in AIP treatment, steroid therapy is the first-line option. The alternative therapy is using immunosuppressants (azathioprine). Recently, there are also first experience in biological therapy already published.
CONCLUSION
Before the start of AIP therapy - the differential diagnosis between pancreatic cancer and AIP is essential.
Topics: Anti-Inflammatory Agents; Autoimmune Diseases; Diagnosis, Differential; Humans; Immunoglobulin G; Immunosuppressive Agents; Pancreatitis, Chronic
PubMed: 24572485
DOI: 10.5507/bp.2013.094 -
Alimentary Pharmacology & Therapeutics Jun 2022Inflammatory bowel disease (IBD) is a chronic inflammatory immune-mediated disorder of the gut with frequent extra-intestinal complications. Pancreatic involvement in... (Review)
Review
BACKGROUND
Inflammatory bowel disease (IBD) is a chronic inflammatory immune-mediated disorder of the gut with frequent extra-intestinal complications. Pancreatic involvement in IBD is not uncommon and comprises a heterogeneous group of conditions, including acute pancreatitis (AP), chronic pancreatitis (CP), autoimmune pancreatitis (AIP) and pancreatic exocrine insufficiency (PEI); however, data on such an association remain sparse and heterogeneous.
METHOD
PubMed/MEDLINE and EMBASE databases were searched for studies investigating pancreatic involvement in patients with IBD.
RESULTS
Four thousand one hundred and twenty-one records were identified and 547 screened; finally, 124 studies were included in the review. AP is the most frequent pancreatic manifestation in IBD; the majority of AP cases in IBD are due to gallstones and drugs but cases of idiopathic AP are increasingly reported. AIP is a rare disease, but a strong association with IBD has been demonstrated, especially for type 2 and ulcerative colitis. The pathogenetic link between IBD and AIP remains unclear, but an immune-mediated pathway seems plausible. An association between CP and PEI with IBD has also been suggested, but data are to date scarce and conflicting.
CONCLUSION
This is the first systematic review of the association between IBD and pancreatic diseases. Gallstones and drugs should be considered the most probable causes of AP in IBD, with type 2 AIP also being possible.
Topics: Acute Disease; Autoimmune Diseases; Chronic Disease; Colitis, Ulcerative; Exocrine Pancreatic Insufficiency; Gallstones; Humans; Inflammatory Bowel Diseases; Pancreatitis, Chronic
PubMed: 35505465
DOI: 10.1111/apt.16949