Transcriptomics data: pointing the way to subclassification and personalized medicine in systemic lupus erythematosus
Purpose of review
To summarize recent studies stratifying SLE patients into subgroups based on gene expression profiling and suggest future improvements for employing transcriptomic data to foster precision medicine.
Recent findings
Bioinformatic & machine learning pipelines have been employed to dissect the transcriptomic heterogeneity of lupus patients and identify more homogenous subgroups. Some examples include the use of unsupervised random forest and k-means clustering to separate adult SLE patients into seven clusters and hierarchical clustering of single-cell RNA-sequencing (scRNA-seq) of immune cells yi...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: SYSTEMIC LUPUS ERYTHEMATOSUS AND SJOGREN SYNDROME: Edited by Amr H. Sawalha Source Type: research
Optimizing reproductive health management in lupus and Sjogren's syndrome
Purpose of review
People with childbearing capacity who are diagnosed with systemic lupus erythematosus (SLE) and Sjogren's syndrome (SS) have specific and important reproductive health considerations.
Recent findings
Recommendations from the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR) provide rheumatologists and other clinicians with guidance for reproductive health management of patients with rheumatic diseases. Patient-centered reproductive health counseling can help clinicians to operationalize the EULAR and ACR guidelines and enhance patient care.
Summary
...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: SYSTEMIC LUPUS ERYTHEMATOSUS AND SJOGREN SYNDROME: Edited by Amr H. Sawalha Source Type: research
Physical exercise for the management of systemic autoimmune myopathies: recent findings, and future perspectives
Purpose of review
The aim of this review is to present the main pieces of evidence, recent literature and to present future perspectives on the use of exercise/physical training in the treatment and improvement of the quality of life of patients with systemic autoimmune myopathies.
Recent findings
In the last decades, knowledge about the relevance of physical exercise training in preventing and treating chronic diseases and improving quality of life has grown. Following the global trend exemplified by the expression ‘exercise is medicine’, the importance of exercise/physical training has also grown in myopat...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: MYOSITIS AND MYOPATHIES: Edited by Andrea Doria, Anna Ghirardello and Mariele Gatto Source Type: research
Anti-HMGCR myopathy: clinical and histopathological features, and prognosis
Purpose of review
This review aims to describe clinical and pathological features, prognosis and treatment in patients with anti-HMGCR antibody positive immune-mediated necrotizing myopathy (HMGCR-IMNM) based on recent findings.
Recent findings
Using advances in diagnostic modalities that can confirm the presence of anti-HMGCR antibody, the clinical and pathological manifestations of HMGCR-IMNM were found to be broader than previously reported. Although only a small percentage of HMGCR-IMNM patients present with atypical manifestations, some of these patients show slow disease progression and clinical symptoms, ...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: MYOSITIS AND MYOPATHIES: Edited by Andrea Doria, Anna Ghirardello and Mariele Gatto Source Type: research
Differential diagnosis of necrotizing myopathy
Purpose of review
Necrotizing myopathy is a broad term. It includes patients with the recently described immune-mediated necrotizing myopathies (IMNM) who have specific antibodies, such as anti-hydroxy-3-methylglutaryl-CoA reductase or anti-signal recognition particle, seronegative phenotypes that can be associated with cancer, and other types of myositis and connective tissue diseases involving necrotic muscle fibers as a characteristic pathologic feature. Necrotizing myopathies that are not immune-mediated, such as those caused by drugs, dystrophies, infections, or even hypothyroidism are also included. The purpose o...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: MYOSITIS AND MYOPATHIES: Edited by Andrea Doria, Anna Ghirardello and Mariele Gatto Source Type: research
Polymyositis: does it really exist as a distinct clinical subset?
Purpose of review
To summarize information on polymyositis; diagnosis, definitions, published data and opinions.
Recent findings
Polymyositis originally referred to inflammatory muscle diseases presenting with muscle weakness and inflammatory cell infiltrates on muscle tissue visible by microscopy. Over time and with improved technology to immunophenotype infiltrating inflammatory cells and characterize muscle fibres, the meaning of polymyositis changed and became more specific. There is ongoing controversy over the term polymyositis, with proponents for a strict definition based on histopathological and immunoh...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: MYOSITIS AND MYOPATHIES: Edited by Andrea Doria, Anna Ghirardello and Mariele Gatto Source Type: research
Skeletal muscle immunohistochemistry of acquired and hereditary myopathies
Purpose of review
The continued development in the field of immunohistochemistry (IHC) has improved the ability to diagnose muscle diseases. Many hereditary diseases are diagnosed by the absence or abnormal localization of proteins. Detection of secondary pathological protein expression is also used in diagnostics, and to study disease processes. We relate and discuss recent reports, where IHC has been an important tool in the investigation of muscle diseases.
Recent findings
In idiopathic inflammatory myopathies, IHC has extended its role to diagnose subgroups. This is most evident concerning immune-mediated ne...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: MYOSITIS AND MYOPATHIES: Edited by Andrea Doria, Anna Ghirardello and Mariele Gatto Source Type: research
Lymphocyte immunophenotyping in inflammatory myositis: a review
Purpose of review
This is a comprehensive review of the current knowledge on predominant immune cell phenotypes involved in idiopathic inflammatory myopathies (IIM).
Recent findings
Major circulating immune cell subpopulations described in IIM encompass the lymphocyte compartment. An unbalance in T cell subsets seems to consistently affect the peripheral and muscle compartment, with a predominance of CD4+ T and B cells in dermatomyositis, CD8+ T cells in polymyositis/inclusion body myositis (IBM) and novel findings highlighting novel proinflammatory T subsets, that is, CD8+Tbet+ and CD28− T cells across differ...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: MYOSITIS AND MYOPATHIES: Edited by Andrea Doria, Anna Ghirardello and Mariele Gatto Source Type: research
Environmental triggers for connective tissue disease: the case of COVID-19 associated with dermatomyositis-specific autoantibodies
Purpose of review
The aim of the present review is to analyze the link between autoimmune diseases and environmental factors, in particular severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection (COVID-19) as it shares numerous features with the interstitial lung disease associated with connective tissue diseases positive for rare autoantibodies directed at highly specific autoantigens (i.e., MDA5 and RIG1) among the intracellular sensors of SARS-CoV-2 in the innate response against viruses.
Recent findings
As shown in recent publications and in our original data, specific autoantibodies may be f...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: MYOSITIS AND MYOPATHIES: Edited by Andrea Doria, Anna Ghirardello and Mariele Gatto Source Type: research
Adipose tissue and adipose secretome in systemic sclerosis
Purpose of review
Adipose tissue is closely associated with systemic sclerosis (SSc)-pathology, both anatomically and functionally. This review focuses on local effects of adipocytes in the context of adipose to mesenchymal transdifferentiation (AMT), effects of the adipose stromal vascular fraction on SSc pathogenesis and systemic effects of adipose tissue secretome.
Recent findings
Novel populations of fibroblasts evolving from adipose tissue were identified– for example COL11+ cancer-associated fibroblasts differentiated from adipose-derived stromal cells. Lipofibroblasts in human lungs were described using...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: RAYNAUD PHENOMENON, SCLERODERMA, OVERLAP SYNDROMES AND OTHER FIBROSING SYNDROMES: Edited by John Varga Source Type: research
The dynamic organelle primary cilia: emerging roles in organ fibrosis
This article aims to provide a critical overview of recent developments and insights in primary cilia biology relevant to fibrosis.
Recent findings
Several studies have highlighted the association of altered primary cilia with various forms of fibrosis. In a rather complex manner, the presence of primary cilia seems to be required for initiation of myofibroblast transition, whereas its loss promotes myofibroblast transition at a later stage. Recent evidence also suggested that noncanonical functions of ciliary transport proteins may influence, such cellular transitions independently of primary cilia. The possibility...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: RAYNAUD PHENOMENON, SCLERODERMA, OVERLAP SYNDROMES AND OTHER FIBROSING SYNDROMES: Edited by John Varga Source Type: research
Insights into origins and specificities of autoantibodies in systemic sclerosis
Purpose of review
Autoantibodies are hallmark findings in systemic sclerosis (SSc), often present prior to disease onset. Clinical diagnosis and prognosis of SSc have long relied on the antitopoisomerase – anticentromere – anti-RNA polymerase antibody trichotomy. However, many more autoantibodies found in SSc are being actively investigated for insights into triggering events, mechanisms of tolerance break, and connections to tissue damage. This review examines recent studies on SSc autoantibodies and the early events that lead to their development.
Recent findings
Recent work has elucidated potential connec...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: RAYNAUD PHENOMENON, SCLERODERMA, OVERLAP SYNDROMES AND OTHER FIBROSING SYNDROMES: Edited by John Varga Source Type: research
Biomarkers in systemic sclerosis: mechanistic insights into pathogenesis and treatment
Purpose of review
Systemic sclerosis (SSc) is heterogenous on molecular, cellular, tissue, and clinical levels. Although many biomarkers have been described in clinical studies, few have been rigorously mapped to specific molecular pathways, tissue pathologies, and clinical manifestations. A focused assessment of peripheral blood levels of C–C Motif Chemokine Ligand-18 (CCL18) and periostin illustrates how biomarkers can link molecular mediators to clinical outcomes.
Recent findings
CCL18 is produced by pulmonary macrophages in response to type 2 cytokines and IL6. Elevated serum CCL18 is associated with inter...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: RAYNAUD PHENOMENON, SCLERODERMA, OVERLAP SYNDROMES AND OTHER FIBROSING SYNDROMES: Edited by John Varga Source Type: research
New mechanism-based approaches to treating and evaluating the vasculopathy of scleroderma
Purpose of review
Utilizing recent insight into the vasculopathy of scleroderma (SSc), the review will highlight new opportunities for evaluating and treating the disease by promoting stabilization and protection of the microvasculature.
Recent findings
Endothelial junctional signaling initiated by vascular endothelial-cadherin (VE-cadherin) and Tie2 receptors, which are fundamental to promoting vascular health and stability, are disrupted in SSc. This would be expected to not only diminish their protective activity, but also increase pathological processes that are normally restrained by these signaling mediato...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: RAYNAUD PHENOMENON, SCLERODERMA, OVERLAP SYNDROMES AND OTHER FIBROSING SYNDROMES: Edited by John Varga Source Type: research
Contribution of monocytes and macrophages to the pathogenesis of systemic sclerosis: recent insights and therapeutic implications
Purpose of review
To discuss recent studies addressing the role of monocytes and macrophages in the pathogenesis of systemic sclerosis (SSc) based on human and mouse models.
Recent findings
Studies indicate that monocyte adhesion could be increased in SSc secondary to an interferon-dependent loss of CD52, and chemotaxis up-regulated through the CCR3/CCL24 pathway. Beyond the conventional M1/M2 paradigm of macrophage subpopulations, new subpopulations of macrophages have been recently described in skin and lung biopsies from SSc patients. Notably, single-cell ribonucleic acid sequencing has provided evidence for ...
Source: Current Opinion in Rheumatology - October 9, 2021 Category: Rheumatology Tags: RAYNAUD PHENOMENON, SCLERODERMA, OVERLAP SYNDROMES AND OTHER FIBROSING SYNDROMES: Edited by John Varga Source Type: research
