Articoli di riviste: "Autoimmune and idiopathic organic disease"

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Keda, YM, IV Krjukova, IA Ilovaiskaia, MS Morozova, OV Fofanova, MB Babarina, EI Marova, YA Pankov e VI Kandror. "Antibodies to pituitary surface antigens during various pituitary disease states". Journal of Endocrinology 175, n. 2 (1 novembre 2002): 417–23. http://dx.doi.org/10.1677/joe.0.1750417.

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Autoantibodies to cell surface antigens of human somatotropinoma (ASAS), human prolactinoma (ASAP) and rat adenohypophysis (ASARA) were assayed in the serum of patients with pituitary diseases associated with GH deficiency (GHD), such as pituitary dwarfism and primary empty sella syndrome (ESS), and in the serum of patients with hyperprolactinaemia of different etiologies: idiopathic hyperprolactinaemia, prolactinoma and ESS. The investigation was carried out with a cellular variant of an ELISA. Among children with GHD, the highest percentage of antibody-positive patients was found in the group with idiopathic isolated GHD (89% of ASAS(+) patients and 30% of ASARA(+) patients vs 33.3% and 0% respectively in the group with idiopathic combined pituitary hormone deficiency, and 33.3% and 9% in patients with pituitary hypoplasia associated with isolated GHD or combined pituitary hormone deficiency). Among hyperprolactinaemic patients, the highest ASAP and ASARA frequency was observed in patients with idiopathic hyperprolactinaemia (67.7% and 41.9% respectively) where it was twice as high as in the group of patients with prolactinoma. The proportion of ASAS(+) and ASARA(+) did not differ significantly between the groups of patients with ess with or without GHD. Similarly, there was no significant difference between the number of ESS ASAP(+) and ASARA(+) patients with or without hyperprolactinaemia. The data obtained suggested that autoimmune disorders may be primary, and responsible, at least in part, for pituitary dysfunction in the cases of idiopathic isolated GHD and idiopathic hyperprolactinaemia. At the same time, the autoimmune disorders in the patients with prolactinoma or ESS are probably secondary to the organic pituitary lesion and their significance in the development of the pituitary dysfunction is obscure.

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Krug, Susanne M. "Solving the Puzzle: Molecular Research in Inflammatory Bowel Diseases". International Journal of Molecular Sciences 24, n. 17 (29 agosto 2023): 13389. http://dx.doi.org/10.3390/ijms241713389.

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Inflammatory bowel disease (IBD) encompasses chronic idiopathic relapsing and remitting gastrointestinal autoimmune diseases characterized by chronic inflammatory disorders of complex etiology, posing clinical challenges due to their often therapy-refractory nature [...]

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Meunier, Lucy, e Dominique Larrey. "Hepatotoxicity of Drugs Used in Multiple Sclerosis, Diagnostic Challenge, and the Role of HLA Genotype Susceptibility". International Journal of Molecular Sciences 24, n. 1 (3 gennaio 2023): 852. http://dx.doi.org/10.3390/ijms24010852.

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Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system and the association with other autoimmune diseases is well-documented. There are many therapeutic options for the treatment of MS. Most of the available drugs cause drug-induced liver injury (DILI) to variable extents with heterogeneous clinical and biological manifestations, including liver injury with or without signs of hypersensitivity and autoimmunity. The diagnosis of DILI may be particularly difficult because MS is frequently associated with idiopathic autoimmune hepatitis. Recent advances suggest that MS and immune-mediated DILI could be promoted by genetic factors, including HLA genotype. In addition, some of these drugs may promote hepatitis B virus reactivation. This review explores the potential hepatotoxicity of drugs used to treat MS and the criteria to distinguish DILI from idiopathic autoimmune hepatitis associated with MS. The role of susceptible genes both promoting MS and causing the hepatotoxicity of the drug used for MS treatment is also discussed.

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Fukushima, Kiyoharu, Kazuyuki Tsujino, Shinji Futami e Hiroshi Kida. "Natural Autoantibodies in Chronic Pulmonary Diseases". International Journal of Molecular Sciences 21, n. 3 (8 febbraio 2020): 1138. http://dx.doi.org/10.3390/ijms21031138.

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In autoantibody-mediated autoimmune diseases, pathogenic autoantibodies generated by a failure of central or peripheral tolerance, have different effects mediated by a variety of mechanisms. Interestingly, even non-autoimmune chronic diseases have a set of disease-specific natural autoantibodies that are maintained for a long time. Because most of these natural autoantibodies target intracellular proteins or long non-coding RNAs, they are speculated to be non-pathological and have some important as yet unrecognized physiological functions such as debris clearance. Recently, we revealed a set of disease-specific natural autoantibodies of chronic pulmonary diseases with unknown etiology by protein arrays that enable detection of specific autoantibodies against >8000 targets. Surprisingly, some of the targeted antigens of disease-specific autoantibodies were subsequently reported by other laboratories as strongly associated with the disease, suggesting that these antigens reflect the pathology of each disease. Furthermore, some of these autoantibodies that target extracellular antigens might modify the original course of each disease. Here, we review the disease-specific natural autoantibodies of chronic pulmonary diseases, including chronic fibrosing idiopathic interstitial pneumonias, sarcoidosis, and autoimmune pulmonary alveolar proteinosis, and discuss their utility and effects.

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Pulito-Cueto, Verónica, Fernanda Genre, Raquel López-Mejías, Víctor Manuel Mora-Cuesta, David Iturbe-Fernández, Virginia Portilla, María Sebastián Mora-Gil et al. "Endothelin-1 as a Biomarker of Idiopathic Pulmonary Fibrosis and Interstitial Lung Disease Associated with Autoimmune Diseases". International Journal of Molecular Sciences 24, n. 2 (9 gennaio 2023): 1275. http://dx.doi.org/10.3390/ijms24021275.

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The aim of this study was to determine the role of endothelin-1 (ET-1), a molecule involved in multiple vascular and fibrosing abnormalities, as a biomarker of interstitial lung disease (ILD), as well as its use for the differential diagnosis between idiopathic pulmonary fibrosis (IPF) and ILD associated with autoimmune diseases (AD-ILD), using a large and well-defined cohort of patients with ILD. A total of 112 patients with IPF, 91 patients with AD-ILD (28 rheumatoid arthritis (RA), 26 systemic sclerosis, 20 idiopathic inflammatory myositis and 17 interstitial pneumonia with autoimmune features) and 44 healthy controls were included. ET-1 serum levels were determined by enzyme-linked immunosorbent assay. A significant increase in ET-1 levels was found in patients with IPF compared to controls. Likewise, AD-ILD patients also showed higher ET-1 levels than controls when the whole cohort was stratified by the type of AD. Similar ET-1 levels were found in IPF and AD-ILD patients, regardless of the underlying AD. Interestingly, increased ET-1 levels were correlated with worse lung function in IPF and RA-ILD patients. Our study supports that serum ET-1 may be useful as a biomarker of ILD, although it could not help in the differential diagnosis between IPF and AD-ILD. Moreover, ET-1 levels may be associated with ILD severity.

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Kageyama, Reiko, Tetsuya Honda e Yoshiki Tokura. "Acquired Idiopathic Generalized Anhidrosis (AIGA) and Its Complications: Implications for AIGA as an Autoimmune Disease". International Journal of Molecular Sciences 22, n. 16 (4 agosto 2021): 8389. http://dx.doi.org/10.3390/ijms22168389.

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Acquired idiopathic generalized anhidrosis (AIGA) is a rare disorder in which systemic anhidrosis/hypohidrosis occurs without causative dermatological, metabolic or neurological disorder. Most cases of AIGA have been reported in Asia, especially in Japan, but there have been only a few reports in Europe and the United States. Severe AIGA may result in heatstroke and can reduce quality of life due to restriction of exercise and outdoor works. AIGA is often accompanied by cholinergic urticaria (CholU), and it is thought that AIGA and CholU with anhidrosis/hypohidrosis belong to the same spectrum of the disease. However, the pathophysiology of AIGA has not yet been clarified. Decreased expression of cholinergic receptor M3 on the epithelial cells of eccrine sweat glands is often accompanied by T cell infiltration around eccrine apparatus, suggesting an immunological mechanism of disordered perspiration. AIGA is occasionally associated with various complications indicative of autoimmune disorders. The association of autoimmune complications further suggests that AIGA is an autoimmune disorder. Studies on complications may lead to a better understanding of the pathophysiology of AIGA.

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Löfdahl, Anna, Göran Tornling, Jenny Wigén, Anna-Karin Larsson-Callerfelt, Christina Wenglén e Gunilla Westergren-Thorsson. "Pathological Insight into 5-HT2B Receptor Activation in Fibrosing Interstitial Lung Diseases". International Journal of Molecular Sciences 22, n. 1 (28 dicembre 2020): 225. http://dx.doi.org/10.3390/ijms22010225.

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Interstitial lung disease (ILD) encompasses a heterogeneous group of more than 200 conditions, of which primarily idiopathic pulmonary fibrosis (IPF), idiopathic nonspecific interstitial pneumonia, hypersensitivity pneumonitis, ILD associated with autoimmune diseases and sarcoidosis may present a progressive fibrosing (PF) phenotype. Despite different aetiology and histopathological patterns, the PF-ILDs have similarities regarding disease mechanisms with self-sustaining fibrosis, which suggests that the diseases may share common pathogenetic pathways. Previous studies show an enhanced activation of serotonergic signaling in pulmonary fibrosis, and the serotonin (5-HT)2 receptors have been implicated to have important roles in observed profibrotic actions. Our research findings in support by others, demonstrate antifibrotic effects with 5-HT2B receptor antagonists, alleviating several key events common for the fibrotic diseases such as myofibroblast differentiation and connective tissue deposition. In this review, we will address the potential role of 5-HT and in particular the 5-HT2B receptors in three PF-ILDs: ILD associated with systemic sclerosis (SSc-ILD), ILD associated with rheumatoid arthritis (RA-ILD) and IPF. Highlighting the converging pathways in these diseases discloses the 5-HT2B receptor as a potential disease target for PF-ILDs, which today have an urgent unmet need for therapeutic strategies.

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Kim, Ji-Won, Mi-Hyun Ahn, Ju-Yang Jung, Chang-Hee Suh e Hyoun-Ah Kim. "An Update on the Pathogenic Role of Neutrophils in Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still’s Disease". International Journal of Molecular Sciences 22, n. 23 (2 dicembre 2021): 13038. http://dx.doi.org/10.3390/ijms222313038.

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Neutrophils are innate immune phagocytes that play a key role in immune defense against invading pathogens. The main offensive mechanisms of neutrophils are the phagocytosis of pathogens, release of granules, and production of cytokines. The formation of neutrophil extracellular traps (NETs) has been described as a novel defense mechanism in the literature. NETs are a network of fibers assembled from chromatin deoxyribonucleic acid, histones, and neutrophil granule proteins that have the ability to kill pathogens, while they can also cause toxic effects in hosts. Activated neutrophils with NET formation stimulate autoimmune responses related to a wide range of inflammatory autoimmune diseases by exposing autoantigens in susceptible individuals. The association between increased NET formation and autoimmunity was first reported in antineutrophil cytoplasmic antibody-related vasculitis, and the role of NETs in various diseases, including systemic lupus erythematosus, rheumatoid arthritis, and psoriasis, has since been elucidated in research. Herein, we discuss the mechanistic role of neutrophils, including NETs, in the pathogenesis of systemic juvenile idiopathic arthritis (SJIA) and adult-onset Still’s disease (AOSD), and provide their clinical values as biomarkers for monitoring and prognosis.

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Rawanduzy, Cameron A., Alexander Winkler-Schwartz e William T. Couldwell. "Hypophysitis: Defining Histopathologic Variants and a Review of Emerging Clinical Causative Entities". International Journal of Molecular Sciences 24, n. 6 (21 marzo 2023): 5917. http://dx.doi.org/10.3390/ijms24065917.

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Inflammatory disease of the pituitary gland is known as hypophysitis. There are multiple histological subtypes, the most common being lymphocytic, and the pathogenesis is variable and diverse. Hypophysitis can be primary and idiopathic or autoimmune related, or secondary to local lesions, systemic disease, medications, and more. Although hypophysitis was previously accepted as an exceedingly rare diagnosis, a greater understanding of the disease process and new insights into possible etiologic sources have contributed to an increased frequency of recognition. This review provides an overview of hypophysitis, its causes, and detection strategies and management.

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Engin, Muhammet Mesut Nezir, e Öner Özdemir. "Current mechanisms in the pathogenesis of lung fibrosis". Trends in Immunotherapy 7, n. 1 (17 luglio 2023): 2028. http://dx.doi.org/10.24294/ti.v7.i1.2028.

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Pulmonary fibrosis is a diverse group of lung disorders defined by varying degrees of fibrosis and inflammation in the pulmonary parenchyma. While it may be caused by a known disease, e.g., autoimmune or connective tissue disorder, drugs, hypersensitivity to inhaled organic antigens, or sarcoidosis, it also occurs to be idiopathic. When we examine the pathogenesis of lung fibrosis, we see that cellular aging plays a major role. Lung fibroblasts play an active role in the regeneration process. However, despite all the information, the pathogenesis of lung fibrosis is not clearly understood. It is not yet clear how senescent cells in the lung mingle and cause fibrosis. The pathogenesis of lung fibrosis will be understood more clearly following future studies.

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Sirbe, Claudia, Gelu Simu, Iulia Szabo, Alina Grama e Tudor Lucian Pop. "Pathogenesis of Autoimmune Hepatitis—Cellular and Molecular Mechanisms". International Journal of Molecular Sciences 22, n. 24 (17 dicembre 2021): 13578. http://dx.doi.org/10.3390/ijms222413578.

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Pediatric autoimmune liver disorders include autoimmune hepatitis (AIH), autoimmune sclerosing cholangitis (ASC), and de novo AIH after liver transplantation. AIH is an idiopathic disease characterized by immune-mediated hepatocyte injury associated with the destruction of liver cells, causing inflammation, liver failure, and fibrosis, typically associated with autoantibodies. The etiology of AIH is not entirely unraveled, but evidence supports an intricate interaction among genetic variants, environmental factors, and epigenetic modifications. The pathogenesis of AIH comprises the interaction between specific genetic traits and molecular mimicry for disease development, impaired immunoregulatory mechanisms, including CD4+ T cell population and Treg cells, alongside other contributory roles played by CD8+ cytotoxicity and autoantibody production by B cells. These findings delineate an intricate pathway that includes gene to gene and gene to environment interactions with various drugs, viral infections, and the complex microbiome. Epigenetics emphasizes gene expression through hereditary and reversible modifications of the chromatin architecture without interfering with the DNA sequence. These alterations comprise DNA methylation, histone transformations, and non-coding small (miRNA) and long (lncRNA) RNA transcriptions. The current first-line therapy comprises prednisolone plus azathioprine to induce clinical and biochemical remission. Further understanding of the cellular and molecular mechanisms encountered in AIH may depict their impact on clinical aspects, detect biomarkers, and guide toward novel, effective, and better-targeted therapies with fewer side effects.

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Argenziano, Maura, Chiara Tortora, Giulia Bellini, Alessandra Di Paola, Francesca Punzo e Francesca Rossi. "The Endocannabinoid System in Pediatric Inflammatory and Immune Diseases". International Journal of Molecular Sciences 20, n. 23 (23 novembre 2019): 5875. http://dx.doi.org/10.3390/ijms20235875.

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Endocannabinoid system consists of cannabinoid type 1 (CB1) and cannabinoid type 2 (CB2) receptors, their endogenous ligands, and the enzymes responsible for their synthesis and degradation. CB2, to a great extent, and CB1, to a lesser extent, are involved in regulating the immune response. They also regulate the inflammatory processes by inhibiting pro-inflammatory mediator release and immune cell proliferation. This review provides an overview on the role of the endocannabinoid system with a major focus on cannabinoid receptors in the pathogenesis and onset of inflammatory and autoimmune pediatric diseases, such as immune thrombocytopenia, juvenile idiopathic arthritis, inflammatory bowel disease, celiac disease, obesity, neuroinflammatory diseases, and type 1 diabetes mellitus. These disorders have a high social impact and represent a burden for the healthcare system, hence the importance of individuating more innovative and effective treatments. The endocannabinoid system could address this need, representing a possible new diagnostic marker and therapeutic target.

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Cerro Chiang, Giuliana Cerro, e Tanyalak Parimon. "Understanding Interstitial Lung Diseases Associated with Connective Tissue Disease (CTD-ILD): Genetics, Cellular Pathophysiology, and Biologic Drivers". International Journal of Molecular Sciences 24, n. 3 (26 gennaio 2023): 2405. http://dx.doi.org/10.3390/ijms24032405.

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Connective tissue disease-associated interstitial lung disease (CTD-ILD) is a collection of systemic autoimmune disorders resulting in lung interstitial abnormalities or lung fibrosis. CTD-ILD pathogenesis is not well characterized because of disease heterogeneity and lack of pre-clinical models. Some common risk factors are inter-related with idiopathic pulmonary fibrosis, an extensively studied fibrotic lung disease, which includes genetic abnormalities and environmental risk factors. The primary pathogenic mechanism is that these risk factors promote alveolar type II cell dysfunction triggering many downstream profibrotic pathways, including inflammatory cascades, leading to lung fibroblast proliferation and activation, causing abnormal lung remodeling and repairs that result in interstitial pathology and lung fibrosis. In CTD-ILD, dysregulation of regulator pathways in inflammation is a primary culprit. However, confirmatory studies are required. Understanding these pathogenetic mechanisms is necessary for developing and tailoring more targeted therapy and provides newly discovered disease biomarkers for early diagnosis, clinical monitoring, and disease prognostication. This review highlights the central CTD-ILD pathogenesis and biological drivers that facilitate the discovery of disease biomarkers.

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Zanatta, Elisabetta, Claudia Colombo, Gianpiero D’Amico, Thomas d’Humières, Carlo Dal Lin e Francesco Tona. "Inflammation and Coronary Microvascular Dysfunction in Autoimmune Rheumatic Diseases". International Journal of Molecular Sciences 20, n. 22 (7 novembre 2019): 5563. http://dx.doi.org/10.3390/ijms20225563.

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Autoimmune rheumatic diseases (ARDs) form a heterogeneous group of disorders that include systemic lupus erythematosus (SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA), idiopathic inflammatory myopathies (IIMs), and systemic vasculitis. Coronary microvascular dysfunction (CMD) is quite common in patients with ARDs and is linked to increased cardiovascular morbidity and mortality. Inflammation plays a crucial role in the pathogenesis of both accelerated atherosclerosis and CMD in ARDs, especially in patients affected by SLE and RA. In this regard, some studies have highlighted the efficacy of immunosuppressants and/or biologics in restoring CMD in these patients. By contrast, the role of inflammation in the pathogenesis of CMD-SSc appears to be much less relevant compared to endothelial dysfunction and microvascular ischemia, with calcium-channel blockers providing some benefits. Few studies have endeavored to assess the occurrence of CMD in IIMs and systemic vasculitis, thus warranting further investigations. The present review summarizes the current evidence on the occurrence of CMD in ARDs, focusing on the role of inflammation and possible therapeutic approaches.

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Yan, Si Chao, Ya Jie Wang, Yu Jie Li, Wei Yan Cai, Xiao Gang Weng, Qi Li, Ying Chen, Qing Yang e Xiao Xin Zhu. "Dihydroartemisinin Regulates the Th/Treg Balance by Inducing Activated CD4+ T cell Apoptosis via Heme Oxygenase-1 Induction in Mouse Models of Inflammatory Bowel Disease". Molecules 24, n. 13 (5 luglio 2019): 2475. http://dx.doi.org/10.3390/molecules24132475.

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Dihydroartemisinin (DHA) is a derivative of the herb Artemisia annua L. that has prominent immunomodulatory activity; however, its underlying mechanism remains elusive. Inflammatory bowel disease (IBD) is an idiopathic inflammatory condition characterized as an autoimmune disorder that includes dysfunctions in the T helper (Th)/T regulatory cell (Treg) balance, which normally plays pivotal roles in immune homeostasis. The aim of this study was to explore the potential of DHA to ameliorate IBD by restoring the Th/Treg cell balance. To this end, we established mouse models of colitis induced by oxazolone (OXA) and 2,4,6-trinitro-benzene sulfonic acid (TNBS). We then treated mice with DHA at 4, 8, or 16 mg/kg/day. DHA treatment ameliorated colitis signs and reduced lymphocyte infiltration and tissue fibrosis. Moreover, DHA decreased the numbers of Th1 and Th17 cells and Th9 and Th22 cells in TNBS- or OXA-induced colitis, respectively, and increased Tregs in both models. DHA (0.8 mg/mL) also inhibited activated CD4+ T lymphocytes, which was accompanied by apoptosis induction. Moreover, it promoted heme oxygenase-1 (HO-1) production in vitro and in vivo, concomitant with CD4+ T cell apoptosis and restoration of the Th/Treg balance, and these effects were blocked by treatment with the HO-1 inhibitor Sn-protoporphyrin IX. Overall, these results suggest that DHA is a novel and valuable candidate for IBD therapy or Th/Treg immunoregulation.

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Jiménez-Jiménez, Félix Javier, Javier Gómez-Tabales, Hortensia Alonso-Navarro, Christopher Rodríguez, Laura Turpín-Fenoll, Jorge Millán-Pascual, Ignacio Álvarez et al. "LAG3/CD4 Genes Variants and the Risk for Restless Legs Syndrome". International Journal of Molecular Sciences 23, n. 23 (26 novembre 2022): 14795. http://dx.doi.org/10.3390/ijms232314795.

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According to several studies, inflammatory factors could be related to the pathogenesis of idiopathic restless legs syndrome (RLS). In addition, RLS and Parkinson’s disease (PD) have shown a possible relationship, and recent studies have shown an association between CD4 rs1922452 and CD4 rs951818 single nucleotide variants (SNVs) and the risk for PD. For these reasons, we investigated the possible association between common variants in the LAG3/CD4 genes (which encoded proteins involved in inflammatory and autoimmune responses) and the risk for RLS in a Caucasian Spanish population. We assessed the frequencies of CD4 rs1922452, CD4 rs951818, and LAG3 rs870849 genotypes and allelic variants in 285 patients with idiopathic RLS and 350 healthy controls using a specific TaqMan-based qPCR assay. We also analyzed the possible influence of the genotypes’ frequencies on several variables, including age at onset of RLS, gender, family history of RLS, and response to drugs commonly used in the treatment of RLS. We found a lack of association between the frequencies of genotypes and allelic variants of the 3 SNVs studied and the risk of RLS, and a weak though significant association between the CD4 rs1922452 GG genotype and an older age at onset of RLS. With the exception of this association, our findings suggest that common SNVs in the CD4/LAG3 genes are not associated with the risk of developing idiopathic RLS in Caucasian Spanish people.

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Martín Álvarez, C., F. Cadenas Extremera, V. Alonso García, M. del Valle Loarte, M. Bravo Arraez e V. Mainar de Paz. "Autoimmune limbic encephlitis. A rising differential diagnosis between diseases with psychiatric symptoms". European Psychiatry 33, S1 (marzo 2016): S636. http://dx.doi.org/10.1016/j.eurpsy.2016.01.2392.

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IntroductionIn psychiatric clinical practice, we can face numerous organic diseases in the differential diagnosis between primary psychiatric disorders. As an example of this, we can see the autoimmune limbic encephalitis(LE), which in a significant percentage of cases begins with psychiatric symptoms. Currently, one of the theories of the origin of the LE is as a idiopathic autoimmune entity, leaving behind the idea of been generated only by a viral or paraneoplastic etiology.ObjectiveTo achieve a better knowledge about this underdiagnosed entity, presenting a case of an anti-LGI1 limbic encephalitis.CaseA 60-year-old Caucasian woman who starts with neuropsychiatric symptoms as: behavioral disorders, manic symptoms, memory impairment and attention deficit.ResultsFinally, the diagnosis was confirmed when the patient had positive results in both serum and CSF samples for anti-LGI1 antibodies. Gastric neuroendocrino tumour type I was discovered. Neither paraneoplasic syndrome nor onconeuronal antibodies were shown. A thin hyperintense signal was identified in the left hippocampus using a brain MRI. Despite the patient had been treated with corticosteroids, immunosuppressants and immunoglobulins, she still showed positive antibodies in CSF samples with poor clinical results, especially psychiatric symptoms. The patient required one psychiatric hospitalization due to reference and persecutory delusions and manic symptoms.ConclusionOur patient had an unsatisfactory evolution with little response to immune treatment. Given the possible underdiagnosis of this condition, the importance of a differential diagnosis and an early treatment, we consider that there is an important need for a greater knowledge and scientific divulgation of this clinical entity.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Bratoiu, Ioana, Alexandra Maria Burlui, Anca Cardoneanu, Luana Andreea Macovei, Patricia Richter, Gabriela Rusu-Zota, Ciprian Rezus, Minerva Codruta Badescu, Andreea Szalontay e Elena Rezus. "The Involvement of Smooth Muscle, Striated Muscle, and the Myocardium in Scleroderma: A Review". International Journal of Molecular Sciences 23, n. 19 (9 ottobre 2022): 12011. http://dx.doi.org/10.3390/ijms231912011.

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Systemic sclerosis (SSc) is a complex autoimmune disease characterized by heterogeneous changes involving numerous organs and systems. The currently available data indicate that muscle injury (both smooth and striated muscles) is widespread and leads to significant morbidity, either directly or indirectly. From the consequences of smooth muscle involvement in the tunica media of blood vessels or at the level of the digestive tract, to skeletal myopathy (which may be interpreted strictly in the context of SSc, or as an overlap with idiopathic inflammatory myopathies), muscular injury in scleroderma translates to a number of notable clinical manifestations. Heart involvement in SSc is heterogenous depending on the definition used in the various studies. The majority of SSc patients experience a silent form of cardiac disease. The present review summarizes certain important features of myocardial, as well as smooth and skeletal muscle involvement in SSc. Further research is needed to fully describe and understand the pathogenic pathways and the implications of muscle involvement in scleroderma.

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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. "E-Selectin, ICAM-1, and ET-1 Biomarkers Address the Concern of the Challenging Diagnosis of Interstitial Lung Disease in Patients with Autoimmune Diseases". International Journal of Molecular Sciences 24, n. 15 (7 agosto 2023): 12518. http://dx.doi.org/10.3390/ijms241512518.

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Interstitial lung disease (ILD) constitutes the most critical comorbidity in autoimmune diseases (ADs) and its early diagnosis remains a challenge for clinicians. Accordingly, we evaluated whether E-selectin, ICAM-1, and ET-1, key molecules in endothelial damage, could be useful biomarkers for the detection of AD-ILD+. We recruited patients with rheumatoid arthritis (RA)-ILD+ (n = 21) and systemic sclerosis (SSc)-ILD+ (n = 21). We included comparison groups of patients: RA-ILD− (n = 25), SSc-ILD− (n = 20), and idiopathic pulmonary fibrosis (IPF) (n = 21). Serum levels of these proteins were determined by ELISA. E-selectin, ICAM-1, and ET-1 serum levels were increased in RA-ILD+ and IPF patients in comparison to RA-ILD− patients. Additionally, SSc-ILD+ and IPF patients exhibited higher ICAM-1 levels than those with SSc-ILD−. The ability of E-selectin, ICAM-1, and ET-1 to discriminate RA-ILD+ from RA-ILD− patients, and ICAM-1 to distinguish SSc-ILD+ from SSc-ILD− patients was confirmed using ROC curve analysis. Furthermore, elevated levels of ET-1 and E-selectin correlated with lung function decline in RA-ILD+ and SSc-ILD+ patients, respectively. In conclusion, our findings support the relevant role of E-selectin, ICAM-1, and ET-1 in RA-ILD+ patients as well as of ICAM-1 in SSc-ILD+ patients, constituting potential screening blood biomarkers of ILD in AD. Moreover, this study suggests ET-1 and E-selectin as possible indicators of worsening lung function in RA-ILD+ and SSc-ILD+ patients, respectively.

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Lucchini, Matteo, Valeria De Arcangelis, Massimo Santoro, Roberta Morosetti, Aldobrando Broccolini e Massimiliano Mirabella. "Serum-Circulating microRNAs in Sporadic Inclusion Body Myositis". International Journal of Molecular Sciences 24, n. 13 (6 luglio 2023): 11139. http://dx.doi.org/10.3390/ijms241311139.

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Background: Sporadic inclusion body myositis (s-IBM) represents a unique disease within idiopathic inflammatory myopathies with a dual myodegenerative–autoimmune physiopathology and a lack of an efficacious treatment. Circulating miRNA expression could expand our knowledge of s-IBM patho-mechanisms and provide new potential disease biomarkers. To evaluate the expression of selected pre-amplified miRNAs in the serum of s-IBM patients compared to those of a sex- and age-matched healthy control group, we enrolled 14 consecutive s-IBM patients and 8 sex- and age-matched healthy controls. By using two different normalization approaches, we found one downregulated and three upregulated miRNAs. hsa-miR-192-5p was significantly downregulated, while hsa-miR-372-3p was found to be upregulated more in the s-IBM patients compared to the level of the controls. The other two miRNAs had a very low expression levels (raw Ct data > 29). hsa-miR-192-5p and hsa-miR-372-3p were found to be significantly dysregulated in the serum of s-IBM patients. These miRNAs are involved in differentiation and regeneration processes, thus possibly reflecting pathological mechanisms in s-IBM muscles and potentially representing disease biomarkers.

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Chinello, Clizia, Noortje de Haan, Giulia Capitoli, Barbara Trezzi, Antonella Radice, Lisa Pagani, Lucrezia Criscuolo et al. "Definition of IgG Subclass-Specific Glycopatterns in Idiopathic Membranous Nephropathy: Aberrant IgG Glycoforms in Blood". International Journal of Molecular Sciences 23, n. 9 (23 aprile 2022): 4664. http://dx.doi.org/10.3390/ijms23094664.

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The podocyte injury, and consequent proteinuria, that characterize the pathology of idiopathic membranous nephropathy (IMN) is mediated by an autoimmune reaction against podocyte antigens. In particular, the activation of pathways leading to abundant renal deposits of complement is likely to involve the binding of mannose-binding lectin (MBL) to aberrant glycans on immunoglobulins. To obtain a landscape of circulatory IgG Fc glycosylation characterizing this disease, we conducted a systematic N-glycan profiling study of IgG1, 2, and 4 by mass spectrometry. The cohort included 57 IMN patients, a pathological control group with nephrotic syndrome (PN) (n = 20), and 88 healthy control subjects. The effect of sex and age was assessed in all groups and controlled by rigorous matching. Several IgG Fc glycan traits were found to be associated with IMN. Interestingly, among them, only IgG4-related results were specific for IMN and not for PN. Hypo-galactosylation of IgG4, already shown for IMN, was observed to occur in the absence of core fucose, in line with a probable increase of pro-inflammatory IgG. In addition, elevated levels of fucosylated IgG4, along with low levels of hybrid-type glycans, were detected. Some of these IgG4 alterations are likely to be more pronounced in high PLA2R (phospholipase A2 receptor) patients. IgG Fc glycosylation patterns associated with IMN warrant further studies of their role in disease mechanisms and may eventually enrich the diagnostic spectrum regarding patient stratification.

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Wu, Chao-Yi, Huang-Yu Yang, Jing-Long Huang e Jenn-Haung Lai. "Signals and Mechanisms Regulating Monocyte and Macrophage Activation in the Pathogenesis of Juvenile Idiopathic Arthritis". International Journal of Molecular Sciences 22, n. 15 (26 luglio 2021): 7960. http://dx.doi.org/10.3390/ijms22157960.

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Monocytes (Mos) and macrophages (Mφs) are key players in the innate immune system and are critical in coordinating the initiation, expansion, and regression of many autoimmune diseases. In addition, they display immunoregulatory effects that impact inflammation and are essential in tissue repair and regeneration. Juvenile idiopathic arthritis (JIA) is an umbrella term describing inflammatory joint diseases in children. Accumulated evidence suggests a link between Mo and Mφ activation and JIA pathogenesis. Accordingly, topics regarding the signals and mechanisms regulating Mo and Mφ activation leading to pathologies in patients with JIA are of great interest. In this review, we critically summarize recent advances in the understanding of how Mo and Mφ activation is involved in JIA pathogenesis and focus on the signaling pathways and mechanisms participating in the related cell activation processes.

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Matsubayashi, Hiroyuki, Hirotoshi Ishiwatari, Kenichiro Imai, Yoshihiro Kishida, Sayo Ito, Kinichi Hotta, Yohei Yabuuchi et al. "Steroid Therapy and Steroid Response in Autoimmune Pancreatitis". International Journal of Molecular Sciences 21, n. 1 (30 dicembre 2019): 257. http://dx.doi.org/10.3390/ijms21010257.

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Autoimmune pancreatitis (AIP), a unique subtype of pancreatitis, is often accompanied by systemic inflammatory disorders. AIP is classified into two distinct subtypes on the basis of the histological subtype: immunoglobulin G4 (IgG4)-related lymphoplasmacytic sclerosing pancreatitis (type 1) and idiopathic duct-centric pancreatitis (type 2). Type 1 AIP is often accompanied by systemic lesions, biliary strictures, hepatic inflammatory pseudotumors, interstitial pneumonia and nephritis, dacryoadenitis, and sialadenitis. Type 2 AIP is associated with inflammatory bowel diseases in approximately 30% of cases. Standard therapy for AIP is oral corticosteroid administration. Steroid treatment is generally indicated for symptomatic cases and is exceptionally applied for cases with diagnostic difficulty (diagnostic steroid trial) after a negative workup for malignancy. More than 90% of patients respond to steroid treatment within 1 month, and most within 2 weeks. The steroid response can be confirmed on clinical images (computed tomography, ultrasonography, endoscopic ultrasonography, magnetic resonance imaging, and 18F-fluorodeoxyglucose-positron emission tomography). Hence, the steroid response is included as an optional diagnostic item of AIP. Steroid treatment results in normalization of serological markers, including IgG4. Short- and long-term corticosteroid treatment may induce adverse events, including chronic glycometabolism, obesity, an immunocompromised status against infection, cataracts, glaucoma, osteoporosis, and myopathy. AIP is common in old age and is often associated with diabetes mellitus (33–78%). Thus, there is an argument for corticosteroid therapy in diabetes patients with no symptoms. With low-dose steroid treatment or treatment withdrawal, there is a high incidence of AIP recurrence (24–52%). Therefore, there is a need for long-term steroid maintenance therapy and/or steroid-sparing agents (immunomodulators and rituximab). Corticosteroids play a critical role in the diagnosis and treatment of AIP.

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Dziadkowiak, Edyta, Marta Nowakowska-Kotas, Sławomir Budrewicz e Magdalena Koszewicz. "Pathology of Initial Axon Segments in Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Related Disorders". International Journal of Molecular Sciences 23, n. 21 (7 novembre 2022): 13621. http://dx.doi.org/10.3390/ijms232113621.

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The diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is based on a combination of clinical, electrodiagnostic and laboratory features. The different entities of the disease include chronic immune sensory polyradiculopathy (CISP) and autoimmune nodopathies. It is debatable whether CIDP occurring in the course of other conditions, i.e., monoclonal IgG or IgA gammopathy, should be treated as a separate disease entity from idiopathic CIDP. This study aims to evaluate the molecular differences of the nodes of Ranvier and the initial axon segment (AIS) and juxtaparanode region (JXP) as the potential cause of phenotypic variation of CIDP while also seeking new pathomechanisms since JXP is sequestered behind the paranode and autoantibodies may not access the site easily. The authors initially present the structure of the different parts of the neuron and its functional significance, then discuss the problem of whether damage to the juxtaparanodal region, Schwann cells and axons could cause CIDP or if these damages should be separated as separate disease entities. In particular, AIS’s importance for modulating neural excitability and carrying out transport along the axon is highlighted. The disclosure of specific pathomechanisms, including novel target antigens, in the heterogeneous CIDP syndrome is important for diagnosing and treating these patients.

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Franco, Chiara, Anna Ghirardello, Loris Bertazza, Michela Gasparotto, Elisabetta Zanatta, Luca Iaccarino, Hadi Valadi, Andrea Doria e Mariele Gatto. "Size-Exclusion Chromatography Combined with Ultrafiltration Efficiently Isolates Extracellular Vesicles from Human Blood Samples in Health and Disease". International Journal of Molecular Sciences 24, n. 4 (11 febbraio 2023): 3663. http://dx.doi.org/10.3390/ijms24043663.

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There is still a need for an efficient method for the isolation of extracellular vesicles (EVs) from human blood that provides a reliable yield with acceptable purity. Blood is a source of circulating EVs, but soluble proteins and lipoproteins hamper their concentration, isolation, and detection. This study aims to investigate the efficiency of EV isolation and characterization methods not defined as “gold standard”. EVs were isolated from human platelet-free plasma (PFP) of patients and healthy donors through size-exclusion chromatography (SEC) combined with ultrafiltration (UF). Then, EVs were characterized using transmission electron microscopy (TEM), imaging flow cytometry (IFC), and nanoparticle tracking analysis (NTA). TEM images showed intact and roundish nanoparticles in pure samples. IFC analysis detected a prevalence of CD63+ EVs compared to CD9+, CD81+, and CD11c+ EVs. NTA confirmed the presence of small EVs with a concentration of ~1010 EVs/mL that were comparable when stratifying the subjects by baseline demographics; conversely, concentration differed according to the health status across healthy donors and patients affected with autoimmune diseases (130 subjects in total, with 65 healthy donors and 65 idiopathic inflammatory myopathy (IIM) patients). Altogether, our data show that a combined EV isolation method, i.e., SEC followed by UF, is a reliable approach to isolate intact EVs with a significant yield from complex fluids, which might characterize disease conditions early.

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26

Kamperman, Renske G., Anneke J. van der Kooi, Marianne de Visser, Eleonora Aronica e Joost Raaphorst. "Pathophysiological Mechanisms and Treatment of Dermatomyositis and Immune Mediated Necrotizing Myopathies: A Focused Review". International Journal of Molecular Sciences 23, n. 8 (13 aprile 2022): 4301. http://dx.doi.org/10.3390/ijms23084301.

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Abstract (sommario):

Idiopathic inflammatory myopathies (IIM), collectively known as myositis, are a composite group of rare autoimmune diseases affecting mostly skeletal muscle, although other organs or tissues may also be involved. The main clinical feature of myositis is subacute, progressive, symmetrical muscle weakness in the proximal arms and legs, whereas subtypes of myositis may also present with extramuscular features, such as skin involvement, arthritis or interstitial lung disease (ILD). Established subgroups of IIM include dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM), anti-synthetase syndrome (ASyS), overlap myositis (OM) and inclusion body myositis (IBM). Although these subgroups have overlapping clinical features, the widespread variation in the clinical manifestations of IIM suggests different pathophysiological mechanisms. Various components of the immune system are known to be important immunopathogenic pathways in IIM, although the exact pathophysiological mechanisms causing the muscle damage remain unknown. Current treatment, which consists of glucocorticoids and other immunosuppressive or immunomodulating agents, often fails to achieve a sustained beneficial response and is associated with various adverse effects. New therapeutic targets have been identified that may improve outcomes in patients with IIM. A better understanding of the overlapping and diverging pathophysiological mechanisms of the major subgroups of myositis is needed to optimize treatment. The aim of this review is to report on recent advancements regarding DM and IMNM.

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Rzepka-Wrona, Patrycja, Szymon Skoczyński e Adam Barczyk. "Are There Differences in Inflammatory and Fibrotic Pathways between IPAF, CTD-ILDs, and IIPs? A Single-Center Pilot Study". International Journal of Molecular Sciences 23, n. 23 (2 dicembre 2022): 15205. http://dx.doi.org/10.3390/ijms232315205.

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In this pilot study, we aim to determine differences in pathogenetic pathways between interstitial pneumonia with autoimmune features (IPAF), connective-tissue-disease-associated interstitial lung diseases (CTD-ILDs), and idiopathic interstitial pneumonias (IIPs). Forty participants were recruited: 9 with IPAF, 15 with CTD-ILDs, and 16 with IIPs. Concentration of transforming growth factor beta (TGF-β1), surfactant proteins A and D (SP-A, SP-D), interleukin 8 (IL-8), and chemokine 1 (CXCL1) were assessed with ELISA assay in bronchoalveolar lavage (BAL) fluid. We revealed that IL-8 and TGF-β1 concentrations were significantly lower in the IPAF group than in the CTD-ILD group (p = 0.008 and p = 0.019, respectively), but similar to the concentrations in the IIP group. There were significant correlations of IL-8 (rs = 0.46; p = 0.003) and CXCL1 (rs = 0.52; p = 0.001) and BAL total cell count (TCC). A multivariate regression model revealed that IL-8 (β = 0.32; p = 0.037) and CXCL1 (β = 0.45; p = 0.004) are significant predictors of BAL TCC. We revealed that IL-8 and TGF-β1 BAL concentrations vary in patients with different ILDs and found that IL-8 is a predictor of BAL TCC in IPAF. However, this needs to be confirmed in a multicenter cooperative study (ClinicalTrials.gov Identifier: NCT03870828).

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Bozzini, Sara, Giovanni Zanframundo, Cecilia Bagnera, Eleonora Bozza, Sara Lettieri, Valentina Vertui, Veronica Codullo et al. "A Proof-of-Concept Analysis of Plasma-Derived Exosomal microRNAs in Interstitial Pulmonary Fibrosis Secondary to Antisynthetase Syndrome". International Journal of Molecular Sciences 23, n. 23 (23 novembre 2022): 14579. http://dx.doi.org/10.3390/ijms232314579.

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Antisynthetase syndrome (ASSD) is an autoimmune disease characterized by the positivity of autoantibodies against different aminoacyl transfer RNA (tRNA) synthetases. Morbidity and mortality of this disease are highly affected by interstitial lung disease (ILD) which is present in about 80% of patients. In this study, we investigated possible differences in 84 immune-related circulating miRNAs between ASSD patients with and without ILD; we enrolled 15 ASSD patients, 11 with ILD (ILD+) and 4 without ILD (ILD-), and 5 patients with idiopathic pulmonary fibrosis (IPF) as an additional control group. All patients were at disease onset and not on therapy at the time of inclusion. Differentially expressed miRNAs were identified in plasma-derived exosomes, using an miRNA PCR array (MIHS-111ZG, Qiagen, Hilden, Germany); miR-30a-5p and miR-29c-3p were upregulated in ASSD-ILD patients compared to patients without lung involvement (adjusted p-value < 0.05). IPF patients showed higher miR-29c-3p expression levels with respect to both ASSD and ASSD-ILD (p = 0.0005), whereas levels of miR-30a-5p were not different. miR-29c-3p and miR-30a-5p are overexpressed in ASSD-ILD+ patients compared with ILD−. These miRNAs are involved in the regulation of inflammation and fibrosis through their action on NF-κB and TGF-β1. Although the mechanistic role of these miRNAs in ASSD-ILD development has to be elucidated, we suggest that their exosome levels could be useful in identifying patients at risk of ILD.

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Marchioni, Alessandro, Roberto Tonelli, Alessandro Andreani, Gaia Francesca Cappiello, Matteo Fermi, Fabiana Trentacosti, Ivana Castaniere et al. "Molecular Mechanisms and Physiological Changes behind Benign Tracheal and Subglottic Stenosis in Adults". International Journal of Molecular Sciences 23, n. 5 (22 febbraio 2022): 2421. http://dx.doi.org/10.3390/ijms23052421.

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Abstract (sommario):

Laryngotracheal stenosis (LTS) is a complex and heterogeneous disease whose pathogenesis remains unclear. LTS is considered to be the result of aberrant wound-healing process that leads to fibrotic scarring, originating from different aetiology. Although iatrogenic aetiology is the main cause of subglottic or tracheal stenosis, also autoimmune and infectious diseases may be involved in causing LTS. Furthermore, fibrotic obstruction in the anatomic region under the glottis can also be diagnosed without apparent aetiology after a comprehensive workup; in this case, the pathological process is called idiopathic subglottic stenosis (iSGS). So far, the laryngotracheal scar resulting from airway injury due to different diseases was considered as inert tissue requiring surgical removal to restore airway patency. However, this assumption has recently been revised by regarding the tracheal scarring process as a fibroinflammatory event due to immunological alteration, similar to other fibrotic diseases. Recent acquisitions suggest that different factors, such as growth factors, cytokines, altered fibroblast function and genetic susceptibility, can all interact in a complex way leading to aberrant and fibrotic wound healing after an insult that acts as a trigger. However, also physiological derangement due to LTS could play a role in promoting dysregulated response to laryngo-tracheal mucosal injury, through biomechanical stress and mechanotransduction activation. The aim of this narrative review is to present the state-of-the-art knowledge regarding molecular mechanisms, as well as mechanical and physio-pathological features behind LTS.

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Mavroudis, Ioannis, Ioana-Miruna Balmus, Alin Ciobica, Alina-Costina Luca, Rumana Chowdhury, Alin-Constantin Iordache, Dragos Lucian Gorgan e Iulian Radu. "Mini-Review on the Harlequin Syndrome—A Rare Dysautonomic Manifestation Requiring Attention". Medicina 58, n. 7 (15 luglio 2022): 938. http://dx.doi.org/10.3390/medicina58070938.

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Abstract (sommario):

Harlequin syndrome (HS) is a rare autonomic disorder. The causes and risk factors of the disease are not fully understood. Some cases of HS are associated with traumatic injuries, tumors, or vascular impairments of the head. Symptoms of HS can also occur in some autoimmune disorders, ophthalmic disorders, sleep disorders, and with certain organic lesions. In this context, a thorough review of the pathophysiology of HS in relation to neurological, ophthalmological, and dermatological conditions is necessary. In this mini-review, we aim to review the pathophysiological changes and underlying mechanisms in primary and secondary HS. Additionally, we discuss possible management approaches for patients with HS in light of the discussed pathological mechanisms. The main symptoms of HS that are correlated with autonomic nervous system impairments include sudden unilateral flushing of the face, neck, chest, and rarely arm, with concurrent contralateral anhidrosis. Despite reported co-occurring syndromes (such as cluster headaches), several studies have shown that HS could frequently overlap with other syndromes that are disruptive to the idiopathic nerve pathways. HS usually does not require any medical treatment. In some severe cases, symptomatic treatments could be needed. However, total symptomatic relief may not be achieved in many cases of HS. We therefore suggest an approach to comprehensive management of HS, which may lead to better long-term control of HS.

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Toader, Corneliu, Calin Petru Tataru, Ioan-Alexandru Florian, Razvan-Adrian Covache-Busuioc, David-Ioan Dumitrascu, Luca Andrei Glavan, Horia Petre Costin, Bogdan-Gabriel Bratu e Alexandru Vlad Ciurea. "From Homeostasis to Pathology: Decoding the Multifaceted Impact of Aquaporins in the Central Nervous System". International Journal of Molecular Sciences 24, n. 18 (20 settembre 2023): 14340. http://dx.doi.org/10.3390/ijms241814340.

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Aquaporins (AQPs), integral membrane proteins facilitating selective water and solute transport across cell membranes, have been the focus of extensive research over the past few decades. Particularly noteworthy is their role in maintaining cellular homeostasis and fluid balance in neural compartments, as dysregulated AQP expression is implicated in various degenerative and acute brain pathologies. This article provides an exhaustive review on the evolutionary history, molecular classification, and physiological relevance of aquaporins, emphasizing their significance in the central nervous system (CNS). The paper journeys through the early studies of water transport to the groundbreaking discovery of Aquaporin 1, charting the molecular intricacies that make AQPs unique. It delves into AQP distribution in mammalian systems, detailing their selective permeability through permeability assays. The article provides an in-depth exploration of AQP4 and AQP1 in the brain, examining their contribution to fluid homeostasis. Furthermore, it elucidates the interplay between AQPs and the glymphatic system, a critical framework for waste clearance and fluid balance in the brain. The dysregulation of AQP-mediated processes in this system hints at a strong association with neurodegenerative disorders such as Parkinson’s Disease, idiopathic normal pressure hydrocephalus, and Alzheimer’s Disease. This relationship is further explored in the context of acute cerebral events such as stroke and autoimmune conditions such as neuromyelitis optica (NMO). Moreover, the article scrutinizes AQPs at the intersection of oncology and neurology, exploring their role in tumorigenesis, cell migration, invasiveness, and angiogenesis. Lastly, the article outlines emerging aquaporin-targeted therapies, offering a glimpse into future directions in combatting CNS malignancies and neurodegenerative diseases.

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Di Marcello, Francesca, Giulia Di Donato, Debora Mariarita d’Angelo, Luciana Breda e Francesco Chiarelli. "Bone Health in Children with Rheumatic Disorders: Focus on Molecular Mechanisms, Diagnosis, and Management". International Journal of Molecular Sciences 23, n. 10 (20 maggio 2022): 5725. http://dx.doi.org/10.3390/ijms23105725.

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Abstract (sommario):

Bone is an extremely dynamic and adaptive tissue, whose metabolism and homeostasis is influenced by many different hormonal, mechanical, nutritional, immunological and pharmacological stimuli. Genetic factors significantly affect bone health, through their influence on bone cells function, cartilage quality, calcium and vitamin D homeostasis, sex hormone metabolism and pubertal timing. In addition, optimal nutrition and physical activity contribute to bone mass acquisition in the growing age. All these factors influence the attainment of peak bone mass, a critical determinant of bone health and fracture risk in adulthood. Secondary osteoporosis is an important issue of clinical care in children with acute and chronic diseases. Systemic autoimmune disorders, like juvenile idiopathic arthritis, can affect the skeletal system, causing reduced bone mineral density and high risk of fragility fractures during childhood. In these patients, multiple factors contribute to reduce bone strength, including systemic inflammation with elevated cytokines, reduced physical activity, malabsorption and nutritional deficiency, inadequate daily calcium and vitamin D intake, use of glucocorticoids, poor growth and pubertal delay. In juvenile arthritis, osteoporosis is more prominent at the femoral neck and radius compared to the lumbar spine. Nevertheless, vertebral fractures are an important, often asymptomatic manifestation, especially in glucocorticoid-treated patients. A standardized diagnostic approach to the musculoskeletal system, including prophylaxis, therapy and follow up, is therefore mandatory in at risk children. Here we discuss the molecular mechanisms involved in skeletal homeostasis and the influence of inflammation and chronic disease on bone metabolism.

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Shevtsov, Andrey, Mikhail Raevskiy, Alexey Stupnikov e Yulia Medvedeva. "In Silico Drug Repurposing in Multiple Sclerosis Using scRNA-Seq Data". International Journal of Molecular Sciences 24, n. 2 (4 gennaio 2023): 985. http://dx.doi.org/10.3390/ijms24020985.

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Abstract (sommario):

Multiple sclerosis (MS) is an autoimmune disease of the central nervous system still lacking a cure. Treatment typically focuses on slowing the progression and managing MS symptoms. Single-cell transcriptomics allows the investigation of the immune system—the key player in MS onset and development—in great detail increasing our understanding of MS mechanisms and stimulating the discovery of the targets for potential therapies. Still, de novo drug development takes decades; however, this can be reduced by drug repositioning. A promising approach is to select potential drugs based on activated or inhibited genes and pathways. In this study, we explored the public single-cell RNA data from an experiment with six patients on single-cell RNA peripheral blood mononuclear cells (PBMC) and cerebrospinal fluid cells (CSF) of patients with MS and idiopathic intracranial hypertension. We demonstrate that AIM2 inflammasome, SMAD2/3 signaling, and complement activation pathways are activated in MS in different CSF and PBMC immune cells. Using genes from top-activated pathways, we detected several promising small molecules to reverse MS immune cells’ transcriptomic signatures, including AG14361, FGIN-1-27, CA-074, ARP 101, Flunisolide, and JAK3 Inhibitor VI. Among these molecules, we also detected an FDA-approved MS drug Mitoxantrone, supporting the reliability of our approach.

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Lee, Jae-Min, Seung Geun Yeo, Su Young Jung, Junyang Jung, Sung Soo Kim, Myung Chul Yoo, Hwa Sung Rim, Hye Kyu Min, Sang Hoon Kim e Dong Choon Park. "Expression and Role of Toll-like Receptors in Facial Nerve Regeneration after Facial Nerve Injury". International Journal of Molecular Sciences 24, n. 14 (8 luglio 2023): 11245. http://dx.doi.org/10.3390/ijms241411245.

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Facial nerve palsy directly impacts the quality of life, with patients with facial nerve palsy showing increased rates of depression and limitations in social activities. Although facial nerve palsy is not life-threatening, it can devastate the emotional and social lives of affected individuals. Hence, improving the prognosis of patients with this condition is of vital importance. The prognosis of patients with facial nerve palsy is determined by the cause of the disease, the degree of damage, and the treatment provided. The facial nerve can be easily damaged by middle ear and temporal bone surgery, trauma or infection, and tumors of the peripheral facial nerve or tumors surrounding the nerve secondary to systemic disease. In addition, idiopathic, acquired immunodeficiency syndrome and autoimmune diseases may damage the facial nerve. The treatment used for facial paralysis depends on the cause. Treatment of facial nerve amputation injury varies depending on the degree of facial nerve damage, comorbidities, and duration of injury. Recently, interest has increased in Toll-like receptors (TLRs) related to innate immune responses, as these receptors are known to be related to nerve regeneration. In addition to innate immune cells, both neurons and glia of the central nervous system (CNS) and peripheral nervous system (PNS) express TLRs. A comprehensive literature review was conducted to assess the expression and role of TLRs in peripheral nerve injury and subsequent regeneration. Studies conducted on rats and mice have demonstrated the expression of TLR1–13. Among these, TLR2–5 and TLR7 have received the most research attention in relation to facial nerve degeneration and regeneration. TLR10, TLR11, and TLR13 increase during compression injury of the facial nerve, whereas during cutting injury, TLR1–5, TLR8, and TLR10–13 increase, indicating that these TLRs are involved in the degeneration and regeneration of the facial nerve following each type of injury. Inadequate TLR expression or absence of TLR responses can hinder regeneration after facial nerve damage. Animal studies suggest that TLRs play an important role in facial nerve degeneration and regeneration.

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Altintoprak, Fatih, Engin Karakece, Taner Kivilcim, Enis Dikicier, Guner Cakmak, Fehmi Celebi e Ihsan Hakkı Ciftci. "Idiopathic Granulomatous Mastitis: An Autoimmune Disease?" Scientific World Journal 2013 (2013): 1–5. http://dx.doi.org/10.1155/2013/148727.

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Purpose. This study aimed to investigate the autoimmune basis of idiopathic granulomatous mastitis (IGM) by determining the anti-nuclear antibody (ANA) and extractable nuclear antigen (ENA) levels of patients diagnosed with IGM.Material and Methods. Twenty-six IGM patients were evaluated. Serum samples were analyzed for autoantibodies by indirect immunofluorescence (IIF) using a substrate kit that induced fluorescein-conjugated goat antibodies to human immunoglobulin G (IgG). IIF patterns were read at serum dilutions of 1 : 40 and 1 : 100 for ANA positivity. Using the immunoblot technique, the sera of patients were assayed at dilutions of 1 : 40 and 1 : 100 for human autoantibodies of the IgG class to 15 lines of highly purified ENAs.Results. In the IIF studies for ANA, positivity was identified for four different patterns in the 1 : 40 diluted preparations, for three different patients in the 1 : 100 diluted preparations and only one pattern was identified at the 1 : 320 dilution. In the ENA studies, positivity was identified for four different pattern in the 1 : 40 dilution, and only one pattern was identified at the 1 : 100 dilution.Conclusion. This study was not able to support the eventual existence of an autoimmune basis for IGM.

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Makker, Sudesh P., e Alfonso Tramontano. "Idiopathic Membranous Nephropathy: An Autoimmune Disease". Seminars in Nephrology 31, n. 4 (luglio 2011): 333–40. http://dx.doi.org/10.1016/j.semnephrol.2011.06.004.

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Nahon-Uzan, Karine, Philippe Levy, Dermot O'Toole, Nadia Belmatoug, Philippe Ponsot, Laurent Palazzo, Pascal Hammel, Valerie Vilgrain e Philippe Ruszniewski. "Is idiopathic pancreatitis an autoimmune disease?" Gastroenterology 124, n. 4 (aprile 2003): A89—A90. http://dx.doi.org/10.1016/s0016-5085(03)80442-0.

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Greco, Antonio, Armando De Virgilio, Andrea Gallo, Massimo Fusconi, Giovanni Ruoppolo, Rosaria Turchetta, Giulio Pagliuca e Marco de Vincentiis. "Idiopathic bilateral vestibulopathy: an autoimmune disease?" Autoimmunity Reviews 13, n. 10 (ottobre 2014): 1042–47. http://dx.doi.org/10.1016/j.autrev.2014.08.035.

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Rose, N. R. "Is idiopathic hypoparathyroidism an autoimmune disease?" Journal of Clinical Investigation 97, n. 4 (15 febbraio 1996): 899–900. http://dx.doi.org/10.1172/jci118511.

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NAHONUZAN, K., P. LEVY, D. OTOOLE, N. BELMATOUG, M. PIERREVULLIERME, A. COUVELARD, P. PONSOT, L. PALAZZO, A. ABBAS e P. HAMMEL. "Is Idiopathic Chronic Pancreatitis an Autoimmune Disease?" Clinical Gastroenterology and Hepatology 3, n. 9 (settembre 2005): 903–9. http://dx.doi.org/10.1016/s1542-3565(05)00540-9.

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Patella, Vincenzo, Diomira Magliacane e Giovanni Florio. "Chronic idiopathic urticaria and autoimmune thyroid disease". World Allergy Organization Journal &NA; (novembre 2007): S319. http://dx.doi.org/10.1097/01.wox.0000301512.29171.c1.

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Maskey, R., R. Sharma, B. Sharma, S. Upadhaya e SS Dhakal. "Thyroid disease in patients with idiopathic thrombocytopenic purpura". Health Renaissance 10, n. 3 (13 novembre 2012): 254–55. http://dx.doi.org/10.3126/hren.v10i3.7058.

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Abstract (sommario):

Idiopathic thrombocytopenia (ITP) is an autoimmune disorder characterized by a reduced platelet count with otherwise normal blood cell counts. Autoimmune thyroid disease is not considered a cause of thrombocytopenia. We report a case of autoimmune thrombocytopenic purpura associated with hyperthyroidism in which the patient's thrombocytopenia and thyrotoxicosis resolved concomitantly. We recommend testing for hyperthyroidism in all patients with unexplained thrombocytopenia and that family members of patients be evaluated, screened, and observed for thrombocytopenia and hyperthyroidism. Health Renaissance; September-December 2012; Vol 10 (No.3);254-255DOI: http://dx.doi.org/10.3126/hren.v10i3.7058

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Sanint, J. M., A. Olive, S. Rodriguez, A. Prior, J. F. Julian e A. Mariscal. "THU0555 Idiopathic Granulomatous Mastitis; A New Autoimmune Disease". Annals of the Rheumatic Diseases 74, Suppl 2 (giugno 2015): 401.2–401. http://dx.doi.org/10.1136/annrheumdis-2015-eular.5050.

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Birring, Surinder S., e Ian D. Pavord. "Idiopathic Chronic Cough and Organ-Specific Autoimmune Disease". Chest 129, n. 1 (gennaio 2006): 213. http://dx.doi.org/10.1378/chest.129.1.213.

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De Virgilio, Armando, Marco de Vincentiis, Maurizio Inghilleri, Giovanni Fabrini, Michela Conte, Andrea Gallo, Maria Ida Rizzo e Antonio Greco. "Idiopathic hypertrophic pachymeningitis: an autoimmune IgG4-related disease". Immunologic Research 65, n. 1 (3 settembre 2016): 386–94. http://dx.doi.org/10.1007/s12026-016-8863-1.

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Papadopoulos, Konstantin I., e Bengt Hallengren. "Polyglandular autoimmune syndrome Type II in patients with idiopathic Addison's disease". Acta Endocrinologica 122, n. 4 (aprile 1990): 472–78. http://dx.doi.org/10.1530/acta.0.1220472.

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Abstract. The frequency of polyglandular autoimmune syndrome Type II, (idiopathic or autoimmune Addison's disease associated with autoimmune thyroid disease, and/or insulin-dependent diabetes mellitus), was retrospectively investigated in 44 patients (26 females and 18 males) with idiopathic Addison's disease (median age at onset 32.5 years, range 8–62; median observation time 17 years, range 0.5–41) evaluated between 1966 and 1988 in the Department of Endocrinology, General Hospital, Malmö. Twenty-two patients (16 females and 6 males) fulfilled the criteria for polyglandular autoimmune syndrome Type II and of these 16 had autoimmune thyroid disease and 9 insulin-dependent diabetes mellitus. In 7 of 9 patients insulin-dependent diabetes mellitus developed prior to Addison's disease, whereas autoimmune thyroid disease was diagnosed before as well as after Addison's disease and with a similar age distribution as Addison's disease. In conclusion, the present study indicates that polyglandular autoimmune syndrome Type II occurs in about 50% of patients with idiopathic Addison's disease and that autoimmune thyroid disease is more common than insulin-dependent diabetes mellitus in these patients. The present study also indicates that insulin-dependent diabetes mellitus precedes Addison's disease in a majority of these patients and usually develops at a young age, whereas autoimmune thyroid disease precedes as well as succeeds Addison's disease and occurs at all ages in these patients.

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JAHNS, R. "P1067 Does idiopathic dilated cardiomyopathy represent an autoimmune-disease?" European Heart Journal 24, n. 5 (marzo 2003): 189. http://dx.doi.org/10.1016/s0195-668x(03)94359-4.

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Santoro, Jonathan D., Lauren M. Kerr, Rachel Codden, Theron Charles Casper, Benjamin M. Greenberg, Emmanuelle Waubant, Sek Won Kong, Kenneth D. Mandl e Mark P. Gorman. "Increased Prevalence of Familial Autoimmune Disease in Children With Opsoclonus-Myoclonus Syndrome". Neurology - Neuroimmunology Neuroinflammation 8, n. 6 (2 settembre 2021): e1079. http://dx.doi.org/10.1212/nxi.0000000000001079.

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Background and ObjectivesOpsoclonus-myoclonus syndrome (OMS) is a rare autoimmune disorder associated with neuroblastoma in children, although idiopathic and postinfectious etiologies are present in children and adults. Small cohort studies in homogenous populations have revealed elevated rates of autoimmunity in family members of patients with OMS, although no differentiation between paraneoplastic and nonparaneoplastic forms has been performed. The objective of this study was to investigate the prevalence of autoimmune disease in first-degree relatives of pediatric patients with paraneoplastic and nonparaneoplastic OMS.MethodsA single-center cohort study of consecutively evaluated children with OMS was performed. Parents of patients were prospectively administered surveys on familial autoimmune disease. Rates of autoimmune disease in first-degree relatives of pediatric patients with OMS were compared using Fisher exact t test and χ2 analysis: (1) between those with and without a paraneoplastic cause and (2) between healthy and disease (pediatric multiple sclerosis [MS]) controls from the United States Pediatric MS Network.ResultsThirty-five patients (18 paraneoplastic, median age at onset 19.0 months; 17 idiopathic, median age at onset 25.0 months) and 68 first-degree relatives (median age 41.9 years) were enrolled. One patient developed systemic lupus erythematosus 7 years after OMS onset. Paraneoplastic OMS was associated with a 50% rate of autoimmune disease in a first-degree relative compared with 29% in idiopathic OMS (p = 0.31). The rate of first-degree relative autoimmune disease per OMS case (14/35, 40%) was higher than healthy controls (86/709, 12%; p < 0.001) and children with pediatric MS (101/495, 20%; p = 0.007).DiscussionIn a cohort of pediatric patients with OMS, there were elevated rates of first-degree relative autoimmune disease, with no difference in rates observed between paraneoplastic and idiopathic etiologies, suggesting an autoimmune genetic contribution to the development of OMS in children.

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Dogan, Murat, Ertan Sal, Sinan Akbayram, Erdal Peker, Yasar Cesur e Ahmet F. Oner. "Concurrent Celiac Disease, Idiopathic Thrombocytopenic Purpura and Autoimmune Thyroiditis: A Case Report". Clinical and Applied Thrombosis/Hemostasis 17, n. 6 (3 agosto 2010): E13—E16. http://dx.doi.org/10.1177/1076029610378502.

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Celiac disease (CD) is a disease of the small intestine caused by an immune response to ingested gluten. Idiopathic thrombocytopenic purpura (ITP) is a common acquired bleeding disorder of childhood. It may follow a viral infection or immunization and is caused by an inappropriate response of the immune system. Autoimmune thyroiditis (AT) is a disease that occurs due to autoimmune mechanisms. Celiac disease associated with autoimmune thyroid disease is well known, but the association of CD, autoimmune thyroid disease, and ITP has been reported very rarely in the literature. In the current report, we have presented a case with CD, AT, and acute ITP, because this association is rarely seen, and to emphasize that CD and AT should be kept in mind in patients with ITP.

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Rahman, Najiha, Harry Petrushkin e Ameenat Lola Solebo. "Paediatric autoimmune and autoinflammatory conditions associated with uveitis". Therapeutic Advances in Ophthalmology 12 (gennaio 2020): 251584142096645. http://dx.doi.org/10.1177/2515841420966451.

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Childhood uveitis comprises a collection of heterogenous ocular phenotypes which are associated with a diverse range of childhood autoimmune and autoinflammatory disorders. Of these genetic and/or acquired disorders, juvenile idiopathic arthritis is the most common, affecting 30-80% of children with uveitis. Up to a third of children with uveitis have ‘isolated’ idiopathic disease and do not have an associated systemic disease which manifests in childhood. However, uveitis may be the presenting manifestation of disease; thus, the apparently well child who presents with uveitis may have isolated idiopathic disease, but they may have an evolving systemic disorder. The diagnosis of most of the associated disorders is reliant on clinical features rather than serological or genetic investigations, necessitating detailed medical history taking and systemic examination. Adequate control of inflammation is key to good visual outcomes, and multidisciplinary care is key to good broader health outcomes.

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