A new proposal for phenotypic classification and outcome assessment of dermatomyositis based on clinical manifestations and serological testing

Abstract Background Dermatomyositis (DM) is an infrequent disease subgroup of idiopathic inflammatory myopathies characterized by distinct skin lesions. However, high heterogeneity makes clinical diagnosis and treatment of DM very challenging. Objectives Unsupervised classification in DM patients and analysis of key factors related to clinical outcomes. Methods This retrospective study was conducted between 2017 and 2022 at the Department of Rheumatology, Xiangya Hospital, Central South University. 162 DM patients were enrolled for unsupervised hierarchical cluster analysis. In addition, we divided the clinical outcomes of DM patients into four subgroups: withdrawal, stabilization, aggravation, and death, and compared the clinical profiles amongst the subgroups. Results Out of 162 DM patients, three clusters were defined. Cluster 1 (n = 40) was mainly grouped by patients with prominent muscular involvement and mild Interstitial Lung Disease (ILD). Cluster 2 (n = 72) grouped patients with skin rash, anti-Melanoma Differentiation Associated protein 5 positive (anti-MDA5+), and Rapid Progressive Interstitial Lung Disease (RP-ILD). Cluster 3 (n = 50) grouped patients with the mildest symptoms. The proportion of death increased across the three clusters (cluster 3 < cluster 1 < cluster 2). Study limitations The number of cases was limited for the subsequent construction and validation of predictive models. We did not review all skin symptoms or pathological changes in detail. Conclusions We reclassified DM into three clusters with different risks for poor outcome based on diverse clinical profiles. Clinical serological testing and cluster analysis are necessary to help clinicians evaluate patients during follow-up and conduct phenotype-based personalized care in DM.

Epigenetics,diseases and therapy in ophthalmology / 中华实验眼科杂志

Heritable changes in gene expression are regarded as epigenetics,which do not involve coding sequence modifications.The study of ophthalmology epigenetics is a rapidly growing area in biomedical research.Epigenetic mechanisms principally include DNA methylation,histone modification,chromatin remodeling and noncoding RNA.Aberrant DNA methylation and histone modification are linked to a number of age-related disorders,such as cancer,autoimmune and others.In recent years,the modulations of epigenetic changes on the pathogenesis of eye disorders and their roles in therapeutic interventions are drawing more and more attention,and these studies deepen the understanding of relevant diseases.Since the epigenetic alterations are reversible,modifying epigenetic marks contributing to eye diseases provide a new approach to the development of disease prevention,diagnosis and therapies.Herein we discuss the roles of epigenetic changes in eye disease development,hoping that ophthalmologists and researchers pay attention to these researching cues in pathogenesis of eye disorders caused by genetic expression alterations in response to environmental changes,importantly,to the implication for relevant eye disease therapy and prevention.