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Diagnostics
Special Issues
Biomarker-Guided Advances in Diagnostic Medicine
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Biomarker-Guided Advances in Diagnostic Medicine

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

Deadline for manuscript submissions: 31 July 2026 | Viewed by 1672

Special Issue Editor

Prof. Dr. Edvīns Miklaševičs

E-Mail Website
Guest Editor
Institute of Oncology, Rīga Stradiņš University, Pilsoņu Street 13, Block 13, LV-1002 Riga, Latvia
Interests: medical genetics; hereditary cancers; biomarkers; miRNA; microbiome; omics; screening

Special Issue Information

Dear Colleagues,

Biomarkers are measurements of biological variables, which can be detected in different tissues, blood and other body liquids. In addition, the rapid development of microbiome studies allows us to search biomarkers “outside of ourselves”. The huge biological variety leads to an almost limitless number of putative prognostic and predictive biomarkers. On the one hand, this allows us to employ many techniques, encompassing genomics, transcriptomics, proteomics and metabolomics, in combination with bioinformatics and AI. On the other hand, there are strong restrictions that have been determined by clinical settings: biomarkers should preferably be non-invasive, stable, reproducible, have high predictive power and be relatively cheap. In this Special Issue, we aim to provide a platform for communication on the progress of biomarker identification and use in healthcare. Its scope includes, but is not limited to, the following topics:  

- Non-invasive biomarkers for early diagnostics of cancer, cardiovascular and other diseases with a strong impact on healthcare.    

- Predictive biomarkers for estimating the efficacy of therapy in real time.    

- Usage of omics, bioinformatics and AI for identifying novel biomarkers.  

- Liquid biopsy as a source of diagnostic and predictive markers in cancer and other diseases.  

- Microbiome and changes in its composition as a source of diagnostic and predictive biomarkers in cancer, psychiatric disorders and other diseases.    

- Population genetics of biomarkers.    

- Biomarkers for population screening and identification of risk groups.    

- Implementation of biomarkers in clinical settings.    

- Challenges and future perspectives of biomarker research and clinical application.

Prof. Dr. Edvīns Miklaševičs
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. 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

  • medical genetics
  • hereditary cancers
  • biomarkers
  • miRNA
  • microbiome
  • omics
  • screening

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Published Papers (3 papers)

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Research

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23 pages, 1451 KB  
Article
CCNA2 and CCNB3 as Early Potential Molecular Candidates of Oocyte Maturation in Cumulus-Oophorous Complex Cells from Follicular Fluid
by Nergis Özlem Kılıç, Çağrı Öner, Duygu Kütük, Belgin Selam, İbrahim Orçun Olcay and Ertuğrul Çolak
Diagnostics 2025, 15(20), 2658; https://doi.org/10.3390/diagnostics15202658 - 21 Oct 2025
Viewed by 247
Abstract
Background/Objectives: Oocyte maturation is a process involving both nuclear and cytoplasmic development regulated by epigenetic changes in gene expression. Cyclin-B3 (CCNB3) and cyclin-A2 (CCNA2) genes are thought to be involved in oocyte maturation; however, the expression profiles and key function in Metaphase-I [...] Read more.
Background/Objectives: Oocyte maturation is a process involving both nuclear and cytoplasmic development regulated by epigenetic changes in gene expression. Cyclin-B3 (CCNB3) and cyclin-A2 (CCNA2) genes are thought to be involved in oocyte maturation; however, the expression profiles and key function in Metaphase-I (MI) and Metaphase-II (MII) phases have yet to be fully elucidated. Small non-coding RNA sequences are involved in epigenetic regulation of specific transcriptional targets, whereas microRNAs (miRNAs) participate in the post-transcriptional and translational repression of target genes. This study examined the expression levels of CCNB3, CCNA2, and their associated miRNAs (miR-17, miR-106b, miR-190a, miR-1275) in cumulus oophorous complex (COC) cells derived from MI and MII oocytes of NOR and DOR IVF cases, with particular emphasis on elucidating their functions during the transition from MI to MII stage. Methods: Follicular fluid containing cumulus–oocyte complex (COC) cells obtained from oocytes of 120 cases in each group NOR MI (n = 30), NOR MII (n = 30), DOR MI (n = 30), and DOR MII (n = 30) who were admitted to the Istanbul Bahçeci Health Group Assisted Reproductive Treatment Center. Following total RNA isolation from COC cells, the gene and protein expression levels of CCNB3 and CCNA2, along with the expression of miR-17, miR-106b, miR-190a, and miR-1275, were assessed using (qPCR-based assay) and immunohistochemistry (IHC). To investigate the functional roles of COC cell populations, morphological analysis was performed using H&E staining. Additionally, metadata of the cases, including age, number of oocytes, fertilization, and embryonic development rates, were evaluated. Results: The expressions of miR-17 and miR-1275 were significantly elevated in both NOR MI and DOR MI groups compared to their respective NOR MII and DOR MII groups (p < 0.05). Additionally, miR-106b levels were higher in the NOR MII group relative to NOR MI (p < 0.05), while an increase was also observed in DOR MI compared to DOR MII (p < 0.05). No difference was observed in miR-190a expression between the NOR and DOR (p > 0.05). Based on the results of H and E staining, the NOR MI, NOR MII, DOR MI, and DOR MII groups exhibited distinct variations in cellular morphology, nuclear characteristics, cytoplasmic volume, and cell density. Conclusions: CCNB3 is predicted to be a potential candidate for determining MI between the NOR and DOR cases. On the other hand, only for the NOR MII cases could CCNA2 provide evidence of oocyte maturation. Moreover, we determined the relationship between related genes and miRNAs which target CCNA2 and CCNB3. Genetic and protein expression analysis across diverse molecular pathways and miRNAs yielded comprehensive preliminary data regarding the developmental stages of oocytes at the MI and MII phases, and their fertilization potential following maturation shows potential and warrants prospective validation with clinical performance evaluation. Full article
(This article belongs to the Special Issue Biomarker-Guided Advances in Diagnostic Medicine)
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16 pages, 1462 KB  
Article
The Transcriptomic Profile Underlying Somatic Monoallelic BRCA1 Inactivation: A Biomarker for Breast Cancer Prognosis
by Elza Kuznecova, Miki Nakazawa-Miklasevica, Nora Krike, Mihails Satcs, Elina Sivina, Arvids Irmejs, Peteris Loza, Janis Gardovskis, Edvins Miklasevics and Zanda Daneberga
Diagnostics 2025, 15(16), 2037; https://doi.org/10.3390/diagnostics15162037 - 14 Aug 2025
Viewed by 544
Abstract
Background and Objectives: Most of the research on the role of the BRCA1 gene in breast cancer is focused on monoallelic germline alterations and loss of heterozygosity in tumors. The aim of this study was to identify the characteristic transcriptomic pattern of [...] Read more.
Background and Objectives: Most of the research on the role of the BRCA1 gene in breast cancer is focused on monoallelic germline alterations and loss of heterozygosity in tumors. The aim of this study was to identify the characteristic transcriptomic pattern of monoallelic somatic BRCA1 inactivation and estimate its correlation with event-free breast cancer survival. Materials and Methods: We conducted global transcriptome sequencing of breast cancer tissue samples to identify differentially expressed genes and signaling pathways associated with monoallelic somatic BRCA1 inactivation. The study group involved 36 patient samples categorized based on BRCA1 inactivation status. Subsequently, the differential gene expression and Kaplan-Meier analyses in the groups with and without monoallelic somatic BRCA1 inactivation were performed. Results: Kaplan-Meier analysis showed a tendency for longer event-free survival in patients with monoallelic somatic BRCA1 inactivation, suggesting somatic BRCA1 inactivation to be a favorable prognostic. Differential gene expression analysis followed by the STRING tool enrichment analysis showed significant enrichment of proteins in the extracellular region and extracellular space. Conclusions: In this study, we identified transcriptomic profiles of differentially expressed genes TPSD1, FABP4, CARTPT, and MMP9 as indicative of homologous recombination-impaired tumors with a tendency for better therapy results. Full article
(This article belongs to the Special Issue Biomarker-Guided Advances in Diagnostic Medicine)
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Review

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20 pages, 7066 KB  
Review
miRNA-Orchestrated Fibroinflammatory Responses in Heart Failure with Preserved Ejection Fraction: Translational Opportunities for Precision Medicine
by Maria Andreea Micu, Dan Alexandru Cozac and Alina Scridon
Diagnostics 2025, 15(18), 2286; https://doi.org/10.3390/diagnostics15182286 - 9 Sep 2025
Viewed by 634
Abstract
Heart failure with a preserved ejection fraction (HFpEF) accounts for nearly half of all heart failure cases. It continues to impose a significant global cardiovascular burden due to its rising prevalence, complex pathophysiology, and limited treatment options. The absence of effective disease-modifying therapies [...] Read more.
Heart failure with a preserved ejection fraction (HFpEF) accounts for nearly half of all heart failure cases. It continues to impose a significant global cardiovascular burden due to its rising prevalence, complex pathophysiology, and limited treatment options. The absence of effective disease-modifying therapies is primarily attributable to the complex and heterogeneous pathophysiology underlying HFpEF. The hallmark of HFpEF is systemic inflammation, mostly originating from extracardiac comorbidities, which initiates and sustains the process of myocardial fibrosis, resulting in diastolic dysfunction. Recent evidence has identified specific micro ribonucleic acids (miRNAs) as key regulatory molecules in this inflammation–fibrosis cascade. Particularly, miR-21 and miR-29 play a central role in modulating these pathological processes by regulating the post-transcriptional expression of genes involved in inflammation, cardiac fibrosis, and remodeling. The inflammation-fibrosis axis in HFpEF offers multiple therapeutic opportunities ranging from direct anti-fibrotic strategies to the modulation of inflammation and fibrosis-related miRNA signatures. Such targeted approaches, especially miRNA modulation, hold potential to disrupt fundamental molecular mechanisms driving disease progression, moving beyond conventional HFpEF management. This narrative review explores the roles of miRNAs in modulating inflammation and fibrosis in HFpEF, critically assesses their potential as diagnostic and prognostic biomarkers, and evaluates their therapeutic application. Given the urgent clinical need for efficient HFpEF treatment strategies, understanding miRNA-mediated regulation of the inflammation–fibrosis axis is essential for developing personalized, mechanism-based therapies for HFpEF that could fundamentally change the HFpEF management paradigm. Full article
(This article belongs to the Special Issue Biomarker-Guided Advances in Diagnostic Medicine)
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