Rheumatology Diseases: Advances in the Understanding of Pathogenesis, Biomarker Research and Treatment Target

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 July 2025 | Viewed by 1095

Special Issue Editor


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Guest Editor
1. Department of Rheumatology, Clinic of Rheumatology, University Hospital St. “Ivan Rilski”, Medical University of Sofia, 13 Urvich St., 1612 Sofia, Bulgaria
2. Medical Faculty, Sofia University “St. Kliment Ohridski”, 1407 Sofia, Bulgaria
Interests: pathogenesis of rheumatic diseases; epigenetic modifications; miRNA expression; new imaging modalities in rheumatology; target therapies

Special Issue Information

Dear Colleagues,

Autoimmune rheumatic diseases (AIRDs) are chronic, systemic diseases characterized by unknown etiology and pathogenesis. Recent studies have revealed the multifactorial basis of AIRD with the leading role of genetic and epigenetic factors as well as environmental factors in disease predisposition, onset and progression. Epigenetic factors, including DNA methylation, histone modifications and deregulated miRNA expression in circulation, in addition to local expression, play an important role in the pathogenesis of AIRD by regulating key biological pathways.

Significant advances have been made in the search for serological and proteomic biomarkers, which could be used as predictors of disease onset and severity. The implementation of newer imaging technics offers an earlier diagnosis rate and safer follow-up of these subtypes of patients.

The recent advances in our understanding of the pathogenesis of AIRD enable the development of effective therapeutic agents, including biological and target therapies minimizing the side-effects of non-selective immunosuppressive agents. Recent studies have shown the effects of new therapeutic strategies, including the use of CAR-T cell therapies, and Bi-specific T-cell engagers, in rheumatology clinical practice, which could allow us to revolutionize the treatment approach in this type of autoimmune diseases.

Dr. Russka Shumnalieva
Guest Editor

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Keywords

  • pathogenesis of rheumatic diseases
  • epigenetic modifications
  • biomarkers
  • new imaging modalities
  • therapeutic strategies
  • new treatment targets

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Published Papers (2 papers)

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Research

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13 pages, 528 KiB  
Article
Neutrophil–Lymphocyte Ratio in Fibromyalgia and Axial Spondyloarthritis: A Potential Biomarker for Diagnosis and Disease Activity
by Miriam Almirall, Esther Espartal, Xabier Michelena, Carlos Suso-Ribera, Mayte Serrat, Sara Marsal and Alba Erra
Biomedicines 2025, 13(6), 1497; https://doi.org/10.3390/biomedicines13061497 - 18 Jun 2025
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Abstract
Objective: The Neutrophil–Lymphocyte Ratio (NLR) has been proposed as an inflammatory biomarker in several diseases, including Fibromyalgia, with controversial results. The objectives of this study were to: (1) compare NLR values among participants with Fibromyalgia, Axial Spondyloarthritis, and healthy controls; (2) assess [...] Read more.
Objective: The Neutrophil–Lymphocyte Ratio (NLR) has been proposed as an inflammatory biomarker in several diseases, including Fibromyalgia, with controversial results. The objectives of this study were to: (1) compare NLR values among participants with Fibromyalgia, Axial Spondyloarthritis, and healthy controls; (2) assess the relationship between NLR and disease activity; and (3) establish diagnostic and activity cut-off values. Methods: A total of 112 age and gender-matched participants were included in each group. NLR values were compared between groups, correlations with disease activity were analyzed, and cut-off values were calculated using Receiver Operating Characteristic (ROC) curves. Results: The NLR was significantly higher in Fibromyalgia patients compared with healthy controls (1.8 ± 0.5 vs. 1.4 ± 0.2; p < 0.001) and in Axial Spondyloarthritis patients compared with both Fibromyalgia patients (2.1 ± 0.3 vs. 1.8 ± 0.5; p < 0.001) and healthy controls (2.1 ± 0.3 vs. 1.4 ± 0.2; p < 0.001). Within disease groups, the NLR was also significantly higher in patients with severe Fibromyalgia (FIQ ≥ 59) compared with non-severe cases (1.9 ± 0.5 vs. 1.7 ± 0.4; p = 0.008) and in patients with high/very high Axial Spondyloarthritis activity compared with those with low/inactive disease (2.3 ± 0.3 vs. 1.9 ± 0.2; p < 0.001). ROC analysis identified the NLR cut-off values of 1.54 for Fibromyalgia diagnosis, 1.64 for severe disease, 1.61 for Axial Spondyloarthritis diagnosis and 1.95 for high/very high disease activity. Conclusions: The NLR may serve as a cost-effective, rapid, and accessible biomarker for establishing diagnosis and disease activity in Axial Spondyloarthritis and, to a lesser extent, in Fibromyalgia. Further research is needed to validate these findings and explore NLR’s role alongside other inflammatory markers. Full article
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Review

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15 pages, 2216 KiB  
Review
MicroRNAs in Systemic Sclerosis: Involvement in Disease Pathogenesis and Potential Use as Diagnostic Biomarkers and Therapeutic Targets
by Russka Shumnalieva, Simeon Monov and Tsvetelina Velikova
Biomedicines 2025, 13(5), 1216; https://doi.org/10.3390/biomedicines13051216 - 16 May 2025
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Abstract
Systemic sclerosis (SSc) is a chronic autoimmune connective tissue disorder characterized by three main pathological features: microangiopathy, immunological alterations, and excessive synthesis of extracellular matrix (ECM) proteins, leading to fibrosis of the skin and internal organs. Although the etiology of SSc is still [...] Read more.
Systemic sclerosis (SSc) is a chronic autoimmune connective tissue disorder characterized by three main pathological features: microangiopathy, immunological alterations, and excessive synthesis of extracellular matrix (ECM) proteins, leading to fibrosis of the skin and internal organs. Although the etiology of SSc is still unknown, recent studies have revealed the potential role of genetic and epigenetic factors in disease pathogenesis. They are involved in the regulation of cell metabolism, cell hyperactivity, and the accumulation of extracellular matrix proteins. Short endogenous noncoding RNA molecules (microRNAs; miRNAs) negatively regulate gene expression at the posttranscriptional level and play a significant role in disease pathogenesis. Altered miRNA expression in circulation and disease-specific tissues could serve as biomarkers and potential therapeutic targets in SSc. Full article
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