Characterization of Muscle Tissue Cell Diversity and Clinical Implications in Idiopathic Inflammatory Myopathy.

Background: Idiopathic inflammatory myopathies (IIMs) exhibit diverse cellular microenvironments in muscle tissues, yet the full spectrum of cell populations and changes remains unclear. This study aimed to characterize cellular heterogeneity, explore cell-cell interactions and assess the prognostic value of cell subtype abundances across IIM subtypes in Han Chinese.

Methods: Muscle samples from six IIMs and three normal controls (NC) underwent single-cell RNA sequencing (scRNA-seq), whereas bulk RNA sequencing was performed on 203 IIMs and 19 NC.

Identification and validation of key genes commonly expressed and upregulated in systemic sclerosis-associated lung diseases through integrated analysis.

Systemic sclerosis (SSc) is a rare and heterogeneous connective tissue disease. Lung diseases, including interstitial lung disease (ILD), pulmonary fibrosis (PF), and pulmonary artery hypertension (PAH), represent a significant and often fatal complication of SSc. The objective of the present study was to identify hub genes, and to establish a theoretical foundation for the pursuit of potential therapeutic targets.

High levels of EPSTI1 enhance IFN-β-mediated HLA-A expression and chemokine secretion in myoblasts in dermatomyositis.

Objectives: Epithelial-Stromal Interaction 1 (EPSTI1), an interferon-related gene that has emerged as a gene of notable interest, plays a multifaceted role in cellular function and disease processes. However, the precise role of EPSTI1 in the context of dermatomyositis(DM) remains elusive and requires further exploration.

Methods: To investigate EPSTI1 expression in DM, we analyzed two transcriptome datasets, peripheral blood mononuclear cells (PBMCs) and muscle tissues from our DM cohort.

The Role of Abatacept on Inflammation and Fibrosis in Hypochlorous Acid-Induced Fibrosis Mice.

Aim: To investigate the effect of abatacept in the hypochlorous acid (HCLO)-induced fibrosis model and to analyze changes in immune cell fractions within the abatacept-treated early diffuse systemic sclerosis (SSc) cohort.

Methods: Fibrosis was induced in BALB/c mice by subcutaneous injection of HCLO, and abatacept was injected intraperitoneally on alternate days starting on day 28. After 6 weeks, we assessed the pathological changes, inflammation, myofibroblast activation, and the percentage of ICOS in CD3+ T cells.

ADAM Metallopeptidase domain 19 promotes skin fibrosis in systemic sclerosis via neuregulin-1.

Background: ADAM19 (ADAM Metallopeptidase Domain 19) is known to be involved in extracellular matrix (ECM) remodeling, yet its specific function in systemic sclerosis (SSc) fibrosis remains unclear.

Objectives: This study sought to clarify the role and underlying mechanism of ADAM19 in SSc skin fibrosis.

Methods: The expression of ADAM19 was assessed in skin tissues of SSc and wound healing using publicly available transcriptome datasets.

Alternative splicing and intron retention: Their profiles and roles in cutaneous fibrosis of systemic sclerosis.

Background: Alternative splicing (AS) and intron retention (IR) implicated in multiple pathophysiological processes, have rarely been reported in systemic sclerosis (SSc).

Methods: We integrated bulk RNA-seq and 4D label-free mass spectrometry to perform a multi-omics analysis of AS and IR in SSc skin tissue and fibroblasts. RMATS and iREAD were used to identify AS and IR, which were validated by real-time PCR.

The effect of gut microbiome and plasma metabolome on systemic sclerosis: a bidirectional two-sample Mendelian randomization study.

Background: Cellular and molecular biology, combined with research on the human microbiome and metabolome, have provided new insights into the pathogenesis of systemic sclerosis (SSc). However, most studies on gut microbiota (GM) and metabolome in SSc are observational studies. The impact of confounding factors and reverse causation leads to different insights.

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

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.

The Expression of Cytokine Profiles and Related Receptors in Idiopathic Inflammatory Myopathies.

Cytokines play a vital role in the pathogenesis of idiopathic inflammatory myopathies (IIMs). Here, we investigated the expression of serum cytokine profiles in untreated IIMs and their correlations with clinical indicators, and further studied the expression of related cytokines receptors in IIMs. The Human 48-Plex Luminex assay for cytokines was performed in the serum of IIMs, including 93 untreated and 18 follow-up (39 samples) patients, and 32 healthy controls (HC).