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Biomedicines
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Pathogenesis, Diagnostics, and Therapeutics for Rheumatic Diseases
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Pathogenesis, Diagnostics, and Therapeutics for Rheumatic Diseases

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

Deadline for manuscript submissions: 31 October 2025 | Viewed by 2199

Special Issue Editor

Dr. Jixin Zhong

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Guest Editor
Department of Rheumatology and Immunology, Tongji Hospital, Huazhong University of Science and Technology, Wuhan 430030, China
Interests: rheumatic diseases; autoimmune; T cells; dendritic cells; macrophages

Special Issue Information

Dear Colleagues,

Rheumatic diseases, encompassing conditions such as rheumatoid arthritis, lupus, osteoarthritis, and spondyloarthropathies, represent a diverse group of disorders characterized by chronic inflammation, pain, and impaired joint or systemic function. Despite advances in understanding their complex etiology, significant challenges remain in unraveling disease mechanisms, improving diagnostic accuracy, and developing targeted therapies. This Special Issue seeks contributions that explore the latest breakthroughs in the ​pathogenesis of rheumatic diseases, including genetic, epigenetic, immunological, and environmental factors driving disease onset and progression. Submissions addressing innovative ​diagnostic tools, such as novel biomarkers, imaging modalities, or machine learning approaches to enhance early detection and personalized care, are strongly encouraged. Additionally, we welcome studies on ​therapeutic advancements, from repurposed drugs and biologics to emerging strategies such as gene therapy, regenerative medicine, and precision immunomodulation.

This Special Issue aims to bridge translational and clinical research, fostering dialogue between basic scientists, clinicians, and industry experts. We encourage the submission original research articles, reviews, case reports, and perspectives that highlight interdisciplinary collaborations, patient-centered outcomes, and novel methodologies. By compiling cutting-edge insights, this Special Issue will serve as a platform to accelerate the development of transformative solutions for patients worldwide.

We welcome you to submit your manuscript to contribute to this pivotal collection advancing the fight against rheumatic diseases.

Dr. Jixin Zhong
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rheumatic diseases
  • pathogenesis
  • autoimmunity
  • biomarkers
  • precision medicine
  • therapeutics
  • disease management
  • immunology
  • clinical diagnostics
  • treatment strategies

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Published Papers (6 papers)

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Research

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22 pages, 4566 KiB  
Article
Immune Dysregulation at the Maternal–Fetal Interface Exacerbates Adverse Pregnancy Outcomes in an Inflammatory Arthritis Murine Model
by Chenxi Yang, Wenjuan Li, Xinxin Liu, Zijun Ma, Jun Chen, Quan Gong, Zachary Braunstein, Xiaoquan Rao, Yingying Wei and Jixin Zhong
Biomedicines 2025, 13(6), 1440; https://doi.org/10.3390/biomedicines13061440 - 11 Jun 2025
Abstract
Objective: Inflammatory arthritis (IA) has been linked to a number of adverse pregnancy outcomes (APOs), but the mechanisms linking IA-related immune dysregulation to compromised reproductive success remain poorly understood. This project will examine how IA affects pregnancy outcomes and alters the associated [...] Read more.
Objective: Inflammatory arthritis (IA) has been linked to a number of adverse pregnancy outcomes (APOs), but the mechanisms linking IA-related immune dysregulation to compromised reproductive success remain poorly understood. This project will examine how IA affects pregnancy outcomes and alters the associated immune microenvironment using SKG (ZAP70W163C) mice, a mouse model that suffers from arthritis resembling human IA. Methods: IA was induced in SKG mice on a C57BL/6J background via mannan exposure. Wild-type C57BL/6 mice served as controls. Pregnancy rates, conception time, embryo resorption rates, and immune parameters (cytokine levels and splenic/lymph node/placental immune cell subsets) were analyzed. Joint pathology was evaluated via histology (HE is staining) and anti-CCP antibody levels. Flow cytometry was used to analyze immune populations within the spleen along with the associated lymphatic nodes. Results: Synovial hyperplasia, elevated anti-CCP, and systemic inflammation were all observed in IA mice. Compared to controls, IA mice demonstrated a reduced mating success rate, prolonged conception time, decreased pregnancy rates, and increased embryo resorption. IA mice showed elevated Th1/Th17 cytokines-IFN-γ, TNF-α, and IL-17, and an expansion of pro-inflammatory immune cells, including NK cells, CD11b+ myeloid cells, neutrophils, M1 macrophages, and Tc1, in the spleen/lymph nodes. Placental immune dysregulation featured increased NKT, NK, and CD4+ cell infiltration. Conversely, anti-inflammatory subsets, such as M2 macrophages and dendritic cells, were reduced. Conclusions: IA increased APOs and skewed the immune microenvironment toward a pro-inflammatory state dominated by Th1/Th17/Tc1 responses and cytotoxic cell activation. These findings highlight immune dysregulation as a key driver of IA-associated pregnancy complications, providing mechanistic insights for therapeutic intervention. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnostics, and Therapeutics for Rheumatic Diseases)
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11 pages, 1135 KiB  
Article
Pharmacokinetics and Ex Vivo Activity of 7-Methylxanthine, an Inhibitor of Monosodium Urate Crystallization
by Miguel D. Ferrer, Jaume Dietrich, Bernat Isern, Maria del Mar Pérez-Ferrer, Joan Albertí, Félix Grases and Antònia Costa-Bauzà
Biomedicines 2025, 13(6), 1411; https://doi.org/10.3390/biomedicines13061411 - 9 Jun 2025
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Abstract
Background/Objectives: 7-Methylxanthine (7-MX) is a naturally occurring metabolite of caffeine and theobromine that can inhibit the crystallization of monosodium urate (MSU) and may be useful for the prevention or treatment of gout. However, the pharmacokinetics and ex vivo activity of 7-MX remain poorly [...] Read more.
Background/Objectives: 7-Methylxanthine (7-MX) is a naturally occurring metabolite of caffeine and theobromine that can inhibit the crystallization of monosodium urate (MSU) and may be useful for the prevention or treatment of gout. However, the pharmacokinetics and ex vivo activity of 7-MX remain poorly characterized. Methods: The present study assessed the pharmacokinetics of 7-MX in Sprague Dawley rats following a single oral dose (30 mg/kg), and the ex vivo inhibition of MSU crystallization by 7-MX in rat plasma after the repeated administration of oral 7-MX. Results: The pharmacokinetic analysis showed that 7-MX reached peak plasma concentration (Cmax ≈ 30 µM) at 30 min after administration (tmax), the terminal half-life was approximately 1.4 h, and there was no evidence of accumulation after repeated daily dosing. After repeated administration, the relationship between dose (30 or 60 mg/kg) and plasma concentration was proportional. In vitro and ex vivo crystallization assays demonstrated that 7-MX inhibited MSU crystallization in a concentration-dependent manner. The in vitro studies showed that 100 µM 7-MX inhibited up to 74% of MSU crystallization under supersaturated conditions (400 mg/L urate). The ex vivo experiments indicated that plasma from rats that received 30 or 60 mg/kg of 7-MX had 41.4% and 52.6% inhibition of crystallization, consistent with the measured plasma concentrations. Conclusions: These findings confirm that oral administration of 7-MX to rats led to a plasma level that was sufficient to decrease MSU crystallization in plasma, and there were no observable toxicities. These results support the potential of 7-MX as a safe oral treatment for gout, especially in combination with urate-lowering therapies, such as allopurinol. Further clinical investigations are warranted to confirm the therapeutic potential of 7-MX in humans. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnostics, and Therapeutics for Rheumatic Diseases)
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14 pages, 556 KiB  
Article
Pulmonary and Renal Predictors of Mortality in ANCA-Associated Vasculitis: A Regional Experience from Türkiye
by Dilara Bulut Gökten, Sevil Karabağ and Rıdvan Mercan
Biomedicines 2025, 13(6), 1401; https://doi.org/10.3390/biomedicines13061401 - 7 Jun 2025
Viewed by 225
Abstract
Background/Objectives: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is a rare autoimmune disease marked by small-vessel inflammation. Pulmonary and renal manifestations are believed to critically influence prognosis, but detailed regional data are lacking. This study aimed to determine the prevalence and prognostic impact of [...] Read more.
Background/Objectives: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is a rare autoimmune disease marked by small-vessel inflammation. Pulmonary and renal manifestations are believed to critically influence prognosis, but detailed regional data are lacking. This study aimed to determine the prevalence and prognostic impact of pulmonary and renal involvement in AAV patients in the Thrace region of Türkiye. Methods: A retrospective cohort study was conducted on 78 biopsy-proven AAV patients followed between 2018 and 2025. Demographic, clinical, laboratory, and outcome data were analysed. Logistic regression identified predictors of relapse and mortality. Results: The cohort included 44 granulomatosis with polyangiitis, 30 microscopic polyangiitis, and 4 eosinophilic granulomatosis with polyangiitis patients; 40 were pr3-ANCA positive and 33 MPO-ANCA positive. Pulmonary involvement was observed in 71.8% and renal involvement in 74.4%, and overall mortality was 20.5%. All deaths occurred in patients with pulmonary involvement (28.6% vs. 0%, p = 0.048). Relapse was higher in those with pulmonary (17.9% vs. 4.5%, p = 0.048) and renal (15.5% vs. 5%, p = 0.056) involvement. Multivariate analysis showed that pulmonary involvement (OR 3.82, p = 0.002), renal involvement (OR 4.73, p = 0.013), and rituximab treatment (OR 10.79, p = 0.049) predicted relapse; elevated CRP (OR 1.01, p = 0.003), creatinine (OR 1.42, p = 0.028), hypoalbuminaemia (OR 0.24, p = 0.046), renal (OR 2.86, p = 0.031), and pulmonary (OR 3.21, p = 0.003) involvement predicted mortality. Conclusions: Pulmonary and renal involvement are highly prevalent and represent the strongest predictors of relapse and mortality in AAV patients in this regional cohort. Recognising these risks is essential to guide early interventions and improve patient outcomes. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnostics, and Therapeutics for Rheumatic Diseases)
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16 pages, 5885 KiB  
Article
Route of Application and Dose Evaluation of Dental Pulp Stem Cells for the Treatment of Sialadenitis Caused by Sjögren’s Syndrome: A Preclinical Study
by Zhihao Du, Lifang Feng, Yu Zhang, Xin Peng, Shan Zhang, Rui Zhao, Jia Lei, Xiaotong Li, Guangyan Yu and Chong Ding
Biomedicines 2025, 13(5), 1068; https://doi.org/10.3390/biomedicines13051068 - 28 Apr 2025
Viewed by 427
Abstract
Background: Sjögren’s syndrome (SS) is an autoimmune disorder characterized by sicca syndrome and/or systemic manifestations. In this study, non-obese diabetic (NOD) mice were used as an animal model for studying SS, to evaluate the optimal administration route and dose range of [...] Read more.
Background: Sjögren’s syndrome (SS) is an autoimmune disorder characterized by sicca syndrome and/or systemic manifestations. In this study, non-obese diabetic (NOD) mice were used as an animal model for studying SS, to evaluate the optimal administration route and dose range of dental pulp stem cells (DPSCs) in the treatment of sialadenitis caused by SS. Methods: Different doses of DPSCs were transplanted into the submandibular glands (SMGs) of 14-week-old NOD mice through two different methods: injection or retrograde perfusion through the catheter orifice into the SMG. At 21 weeks of age, the saliva flow rate (SFR), ectopic lymphocytes, and CD4+ T-cell infiltration were measured. Tumor necrosis factor-alpha (TNF-α) and interferon-gamma (IFN-γ) in the glandular tissues were also quantitatively detected. Results: Compared with untreated and PBS-injected controls, different-dose groups of the two administration methods showed an increased saliva flow rate of NOD mice to varying degrees, reduced infiltration of lymphocytes and CD4+ T cells in the SMG, and decreased IFN-γ/TNF-α levels. Finally, we compared these two administration routes and found that the perfusion of 2 × 105 DPSCs presents good therapeutic effects. Conclusions: DPSC perfusion through the catheter orifice is a simple and effective treatment method, which is worthy of further investigation through clinical trials. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnostics, and Therapeutics for Rheumatic Diseases)
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Review

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18 pages, 1941 KiB  
Review
Glucocorticoid-Mediated Extracellular Matrix Regulation: Implications for Precision Therapy
by Yinghua Zhu, Yuping Zhang, Ju Shao and Ligang Jie
Biomedicines 2025, 13(6), 1282; https://doi.org/10.3390/biomedicines13061282 - 23 May 2025
Viewed by 457
Abstract
Glucocorticoids (GCs) have revolutionized the treatment of multidisciplinary diseases. Recently, its role in severe infectious diseases has been revisited and discussed since the COVID-19 pandemic. Previous research and discussions have focused more on their anti-inflammatory effects and impact on the immune system, with [...] Read more.
Glucocorticoids (GCs) have revolutionized the treatment of multidisciplinary diseases. Recently, its role in severe infectious diseases has been revisited and discussed since the COVID-19 pandemic. Previous research and discussions have focused more on their anti-inflammatory effects and impact on the immune system, with limited study on other aspects of their action and mechanisms. In recent years, it has been discovered that glucocorticoids can regulate the extracellular matrix by influencing the cellular microenvironment and processes such as fibrosis, thereby exerting regulatory effects on diseases. This article summarizes current research on GC-mediated extracellular matrix (ECM) remodeling. It emphasizes the dual role of the ECM as a therapeutic target and a source of biomarkers, and identifies molecular mechanisms and potential biomarkers for precise glucocorticoid therapy, such as type I collagen (PRO-C1), type III collagen (PRO-C3), fibrillin-C (FBN-C), and type III collagen degradation (C3M). These findings may also contribute to the development of more precise new drugs. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnostics, and Therapeutics for Rheumatic Diseases)
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12 pages, 1163 KiB  
Review
Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations
by Marika Venezia, Martina Vinci, Paolo Colomba, Carmela Zizzo, Giovanni Duro and Marta Moschetti
Biomedicines 2025, 13(5), 1199; https://doi.org/10.3390/biomedicines13051199 - 14 May 2025
Viewed by 377
Abstract
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive, progressive, multisystem hereditary lysosomal storage disease (LSD), which is characterized by the gradual accumulation of dermatan sulphate (DS), heparan sulphate (HS), and glycosaminoglycans (GAGs) in all organs and tissues due to the deficiency of the [...] Read more.
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive, progressive, multisystem hereditary lysosomal storage disease (LSD), which is characterized by the gradual accumulation of dermatan sulphate (DS), heparan sulphate (HS), and glycosaminoglycans (GAGs) in all organs and tissues due to the deficiency of the enzyme α-L-hyduronidase. The multisystem clinical manifestations of varying severities of MPS-I are present in two forms—the “severe form of MPS I” (Hurler type) and the “attenuated form of MPS-I” (Hurler–Scheie or Scheie type). These forms represent the entire case history of the disease. The three phenotypes share common symptoms, including musculoskeletal abnormalities, facial dysmorphisms, hernias, short stature, finger stiffness, carpal tunnel syndrome, and corneal opacities. Abnormalities affecting the internal organs include hepatomegaly, splenomegaly, and valvulopathy. There is some evidence to suggest a similarity and overlap with the clinical symptoms of MPS-I, particularly in cases of another rare LSD that is autosomal and recessively inherited—l’α-mannosidosis. This disorder has been observed to result from a dysfunction of the corresponding α-mannosidase enzyme, which has been shown to lead to the accumulation of mannose-rich N-linked oligosaccharides. This review compares the phenotypic similarities and molecular differences between mucopolysaccharidosis type I (MPS-I) and α-mannosidosis. We review genotype–phenotype correlations, diagnostic difficulties, and the applicability of artificial intelligence for the assistance of differential diagnosis, with the goal of facilitating the earlier and more accurate diagnosis of these rare lysosomal storage diseases. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnostics, and Therapeutics for Rheumatic Diseases)
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