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Diagnostics
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Recent Advances in Diagnosis and Management of Systemic Sclerosis
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Recent Advances in Diagnosis and Management of Systemic Sclerosis

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 June 2024) | Viewed by 6848

Special Issue Editors

Dr. Katia Stefanantoni

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Guest Editor
Dipartimento di Scienze Cliniche Internistiche, Anestesiologiche e Cardiovalscolari, University Sapienza, 00185 Rome, Italy
Interests: systemic sclerosis; capillaroscopy; autoantibodies; drug therapy
Dr. Tania Colasanti

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Guest Editor
Dipartimento di Scienze Cliniche Internistiche, Anestesiologiche e Cardiovalscolari, University Sapienza, 00185 Rome, Italy
Interests: autoimmune diseases; drug therapy; autoantibodies; post-translational modifications; autophagy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Systemic Sclerosis (SSc) is a rare autoimmune disease characterized by immunological, vascular, and fibrotic changes. The pathogenesis is still unclear and several mechanisms seem to be involved. These different pathogenetic pathways reflect the different stages of the disease and the variety of clinical manifestations.

More recently, molecular stratification studies have further assessed the presence of different subtypes of SSc with different treatment outcomes. In fact, despite recent therapeutic advances, SSc prognosis for some complications, such as interstitial lung disease, remains poor.

Finding molecular and/or clinical biomarkers to reach an early diagnosis and assess new risks factors for the different clinical symptoms is essential to managing this pleomorphic disease. At the same time, new biomarkers could be used as new therapeutic targets.

Precision medicine will allow designing a tailored therapy, according to the phase of the disease and the main clinical manifestations.

This issue aims to shed a light on the mechanisms underlying the onset and the progression of this rare disease, which may be useful for the development of new diagnostic or prognostic biomarkers and/or new therapeutic targets. Original research articles and reviews are equally welcome and may include clinical, translational, and experimental research studies on different cell types and disease models.

Dr. Katia Stefanantoni
Dr. Tania Colasanti
Guest Editors

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. Diagnostics is an international peer-reviewed open access semimonthly 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

  • systemic sclerosis
  • precision medicine
  • translational medicine
  • molecular biomarkers
  • clinical biomarkers
  • clinical subsets
  • diagnosis
  • prognosis
  • tailored therapy
  • tailored management
  • experimental research

Published Papers (5 papers)

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Research

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13 pages, 1847 KiB  
Article
The Clinical Significance of Salusins in Systemic Sclerosis—A Cross-Sectional Study
by Joanna Nowaczyk, Leszek Blicharz, Michał Zawistowski, Mariusz Sikora, Michał Zaremba, Joanna Czuwara and Lidia Rudnicka
Diagnostics 2023, 13(5), 848; https://doi.org/10.3390/diagnostics13050848 - 23 Feb 2023
Cited by 3 | Viewed by 1482
Abstract
Background: Systemic sclerosis (SSc) is a connective tissue disease manifesting with progressive fibrosis of the skin and internal organs. Its pathogenesis is strictly associated with vascular disfunction and damage. Salusin-α and salusin-β, endogenous peptides regulating secretion of pro-inflammatory cytokines and vascular smooth muscle [...] Read more.
Background: Systemic sclerosis (SSc) is a connective tissue disease manifesting with progressive fibrosis of the skin and internal organs. Its pathogenesis is strictly associated with vascular disfunction and damage. Salusin-α and salusin-β, endogenous peptides regulating secretion of pro-inflammatory cytokines and vascular smooth muscle proliferation, may potentially play a role in SSc pathogenesis. Objectives: The aim of this study was to assess the concentration of salusins in sera of patients with SSc and healthy controls and to evaluate correlations between the salusins levels and selected clinical parameters within the study group. Materials and methods: 48 patients with SSc (44 women; mean age, 56.4, standard deviation, 11.4) and 25 adult healthy volunteers (25 women; mean age, 55.2, standard deviation, 11.2) were enrolled. All patients with SSc were treated with vasodilators and twenty-seven of them (56%) also received immunosuppressive therapy. Results: Circulating salusin-α was significantly elevated in patients with SSc in comparison to healthy controls (U = 350.5, p = 0.004). Patients with SSc receiving immunosuppression had higher serum salusin-α concentrations compared with those without immunosuppressive therapy (U = 176.0, p = 0.026). No correlation was observed between salusins concentrations and skin or internal organ involvement parameters. Conclusions: Salusin-α, a bioactive peptide mitigating the endothelial disfunction, was elevated in patients with systemic sclerosis receiving vasodilators and immunosuppressants. Increased salusin-α concertation may be associated with the initiation of atheroprotective processes in patients with SSc managed pharmacologically, which requires verification in future studies. Full article
(This article belongs to the Special Issue Recent Advances in Diagnosis and Management of Systemic Sclerosis)
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Review

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15 pages, 700 KiB  
Review
Recent Insights into the Role of DNA Methylation and Histone Modifications in Systemic Sclerosis: A Scoping Review
by Tsvetelina Kostova, Rositsa Karalilova, Zguro Batalov, Maria Kazakova, Victoria Sarafian and Anastas Batalov
Diagnostics 2024, 14(6), 652; https://doi.org/10.3390/diagnostics14060652 - 20 Mar 2024
Viewed by 923
Abstract
Systemic sclerosis is a complex idiopathic disease originating from an intricate interplay between genetic susceptibility, environmental factors, and epigenetic modifications. This scoping review aims to map the advancements made regarding DNA methylation abnormalities and histone modifications in systemic sclerosis in the past decade. [...] Read more.
Systemic sclerosis is a complex idiopathic disease originating from an intricate interplay between genetic susceptibility, environmental factors, and epigenetic modifications. This scoping review aims to map the advancements made regarding DNA methylation abnormalities and histone modifications in systemic sclerosis in the past decade. A literature search was conducted using three electronic databases (Scopus, Web of Science and PubMed) to identify relevant articles. A total of 44 studies were selected for this review, demonstrating the critical contribution of epigenetic perturbations in multiple cell types to disease pathogenesis. In conclusion, this scoping review has elucidated the significant discoveries made in the past decade regarding the role of DNA methylation and histone modifications in systemic sclerosis. Further progress in the field could lead to the development of novel treatment possibilities targeting epigenetic marks. Full article
(This article belongs to the Special Issue Recent Advances in Diagnosis and Management of Systemic Sclerosis)
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13 pages, 1358 KiB  
Review
Anti-U11/U12 Antibodies as a Rare but Important Biomarker in Patients with Systemic Sclerosis: A Narrative Review
by Marvin J. Fritzler, Chelsea Bentow, Lorenzo Beretta, Boaz Palterer, Janire Perurena-Prieto, Maria Teresa Sanz-Martínez, Alfredo Guillen-Del-Castillo, Ana Marín, Vicent Fonollosa-Pla, Eduardo Callejas-Moraga, Carmen Pilar Simeón-Aznar and Michael Mahler
Diagnostics 2023, 13(7), 1257; https://doi.org/10.3390/diagnostics13071257 - 27 Mar 2023
Cited by 3 | Viewed by 1923
Abstract
Anti-nuclear (ANA) are present in approximately 90% of systemic sclerosis (SSc) patients and are key biomarkers in supporting the diagnosis and determining the prognosis of this disease. In addition to the classification criteria autoantibodies for SSc [i.e., anti-centromere, anti-topoisomerase I (Scl-70), anti-RNA polymerase [...] Read more.
Anti-nuclear (ANA) are present in approximately 90% of systemic sclerosis (SSc) patients and are key biomarkers in supporting the diagnosis and determining the prognosis of this disease. In addition to the classification criteria autoantibodies for SSc [i.e., anti-centromere, anti-topoisomerase I (Scl-70), anti-RNA polymerase III], other autoantibodies have been associated with important SSc phenotypes. Among them, anti-U11/U12 ribonucleoprotein (RNP) antibodies, also known as anti-RNPC-3, were first reported in a patient with SSc, but very little is known about their association and clinical utility. The U11/U12 RNP macromolecular complex consists of several proteins involved in alternative mRNA splicing. More recent studies demonstrated associations of anti-anti-U11/U12 antibodies with SSc and severe pulmonary fibrosis as well as with moderate to severe gastrointestinal dysmotility. Lastly, anti-U11/U12 autoantibodies have been strongly associated with malignancy in SSc patients. Here, we aimed to summarize the knowledge of anti-U11/U12/RNPC-3 antibodies in SSc, including their seroclinical associations in a narrative literature review. Full article
(This article belongs to the Special Issue Recent Advances in Diagnosis and Management of Systemic Sclerosis)
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15 pages, 11308 KiB  
Review
Current Perspectives on Periodontitis in Systemic Sclerosis: Associative Relationships, Pathogenic Links, and Best Practices
by Andreea Ciurea, Nicolae Voicu Rednic, Andrada Soancă, Iulia Cristina Micu, Alina Stanomir, Diana Oneț, Petra Șurlin, Ileana Filipescu, Alexandra Roman, Ștefan Ioan Stratul and Cristina Pamfil
Diagnostics 2023, 13(5), 841; https://doi.org/10.3390/diagnostics13050841 - 22 Feb 2023
Cited by 3 | Viewed by 1638
Abstract
Systemic sclerosis is a chronic, autoimmune, multisystemic disease characterized by aberrant extracellular matrix protein deposition and extreme progressive microvasculopathy. These processes lead to damage within the skin, lungs, or gastrointestinal tract, but also to facial changes with physiognomic and functional alterations, and dental [...] Read more.
Systemic sclerosis is a chronic, autoimmune, multisystemic disease characterized by aberrant extracellular matrix protein deposition and extreme progressive microvasculopathy. These processes lead to damage within the skin, lungs, or gastrointestinal tract, but also to facial changes with physiognomic and functional alterations, and dental and periodontal lesions. Orofacial manifestations are common in SSc but are frequently overshadowed by systemic complications. In clinical practice, oral manifestations of SSc are suboptimally addressed, while their management is not included in the general treatment recommendations. Periodontitis is associated with autoimmune-mediated systemic diseases, including systemic sclerosis. In periodontitis, the microbial subgingival biofilm induces host-mediated inflammation with subsequent tissue damage, periodontal attachment, and bone loss. When these diseases coexist, patients experience additive damage, increasing malnutrition, and morbidity. The present review discusses the links between SSc and periodontitis, and provides a clinical guide for preventive and therapeutical approaches in the management of these patients. Full article
(This article belongs to the Special Issue Recent Advances in Diagnosis and Management of Systemic Sclerosis)
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Other

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8 pages, 228 KiB  
Brief Report
Can Combination Therapy with Endothelin Receptor Antagonist and PDE5 Inhibitors Prevent Echocardiographic Findings Suspicious for Pulmonary Arterial Hypertension? Description of a Real-Life Case Series
by Arianna Damiani, Gemma Lepri, Francesco Bonomi, Elisa Fiorentini, Silvia Peretti, Jelena Blagojevic, Silvia Bellando Randone and Serena Guiducci
Diagnostics 2024, 14(14), 1526; https://doi.org/10.3390/diagnostics14141526 - 15 Jul 2024
Viewed by 161
Abstract
Objective: To retrospectively evaluate the incidence rate (IR) of elevated echocardiographic estimated systolic pulmonary artery pressure (sPAP), suspected for pulmonary hypertension (PH), in systemic sclerosis (SSc) patients after the introduction of a combination therapy with bosentan and sildenafil for treatment or prevention of [...] Read more.
Objective: To retrospectively evaluate the incidence rate (IR) of elevated echocardiographic estimated systolic pulmonary artery pressure (sPAP), suspected for pulmonary hypertension (PH), in systemic sclerosis (SSc) patients after the introduction of a combination therapy with bosentan and sildenafil for treatment or prevention of digital ulcers. Methods: Patients attending the Scleroderma Unit of the Universital Hospital of Careggi from July 2010 to July 2023 were enrolled. Patients older than 18 years old with a history of digital ulcers, treated with bosentan and sildenafil in combination for at least 12 months, were included. Patients with a diagnosis of PH preceding the introduction of the therapy were excluded. Demographical data, disease duration, laboratoristic, and instrumental data (pulmonary function tests, echocardiographic estimation of sPAP, and ultrasonographic value of renal resistive index) were collected. The IR of echocardiographic signs suspected of pulmonary hypertension and their 95% confidence interval were calculated in events/1000 patients-years. Results: Thirty-five patients were enrolled; the mean disease duration was 12.82 years (SD 5.92). The mean duration of the combination treatment was 81.03 (SD 43.1.3) months, and the total at-risk time was 2674 months. Two patients (5.7%) presented echocardiographic signs of PH (sPAP 50 mmHg and 40 mmHg); the IR was calculated to be 9/1000 patients-years (95% CI 7.95–10.12). In one of the two patients, right heart catheterism (RHC) excluded PAH, while the other patient refused to undergo RHC, and PAH could not be confirmed/excluded. The stability of PFTs and echocardiographic sPAP was observed during the observation time. Conclusions: The results of this retrospective study suggest that combination therapy with endothelin receptor antagonists and phosphodiesterase-5 (PDE5) inhibitors could help in preventing PAH in SSc; prospective case–control studies on a larger population are needed to improve knowledge in this field. Full article
(This article belongs to the Special Issue Recent Advances in Diagnosis and Management of Systemic Sclerosis)
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