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Blood Disorders: Diagnosis, Management, and Future Opportunities
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Blood Disorders: Diagnosis, Management, and Future Opportunities

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: 31 August 2025 | Viewed by 5359

Special Issue Editors

Dr. Cristina Panuzzo

E-Mail Website
Guest Editor
Department of Clinical and Biological Sciences, University of Turin, 10043 Orbassano, Italy
Interests: leukemia and cancer; molecular mechanisms; TKI resistance; Dictyostelium discoideum model organism
Special Issues, Collections and Topics in MDPI journals
Dr. Barbara Pergolizzi

E-Mail Website
Guest Editor
Department of Oncology, University of Turin, 10043 Turin, Italy
Interests: ubiquitination system; chemotaxis and aerotaxis; omics science; simple model; leukemia and cancer
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We invite researchers and clinicians to contribute to this Special Issue, which will focus on the critical need to translate scientific advancements into clinical practice, to ultimately improve patient outcomes and quality of life.

Blood disorders encompass a wide range of conditions affecting the blood's ability to function correctly. These disorders can impact red blood cells (e.g., anemia and hemophilia), white blood cells (e.g., leukemia and lymphoma), platelets (e.g., thrombocytopenia), and plasma (e.g., multiple myeloma), leading to various health issues.

From both a biological and clinical perspective, we will explore the major current challenges and opportunities, from the use of flow cytometry, digital droplet PCR (ddPCR), and next-generation sequencing (NGS) to new, attractive metabolomic approaches to identifying emerging biomarkers. All these methods are crucial to explore further due to their potential in early detection, prognosis, and optimal treatment.

In this Special Issue, with contributions from experts, we aim to discuss and clarify the most important technological advancements in diagnosis and the identification of novel biomarkers, highlighting the impact that they could have on early detection and personalized treatment approaches.

Dr. Cristina Panuzzo
Dr. Barbara Pergolizzi
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. Journal of Clinical Medicine 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

  • blood disorders
  • biomarkers
  • personalized medicine
  • diagnosis
  • NGS
  • metabolomics
  • digital droplet PCR (ddPCR)

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Research

14 pages, 5285 KiB  
Article
Tyrosine Kinase Inhibitor Therapy Enhances Stem Cells Profile and May Contribute to Survival of Chronic Myeloid Leukemiastem Cells
by Simone Rocco, Alessandro Maglione, Valentina Schiavo, Alessandro Ferrando, Carmen Fava, Daniela Cilloni, Barbara Pergolizzi and Cristina Panuzzo
J. Clin. Med. 2025, 14(2), 392; https://doi.org/10.3390/jcm14020392 - 10 Jan 2025
Viewed by 1037
Abstract
Background/Objectives: Treatment with tyrosine kinase inhibitors (TKIs) in chronic myeloid leukemia (CML) has revolutionized disease management and has transformed CML from a life-threatening disease to a chronic condition for many patients. However, overcoming resistance, particularly related to leukemic stem cells (LSC) that [...] Read more.
Background/Objectives: Treatment with tyrosine kinase inhibitors (TKIs) in chronic myeloid leukemia (CML) has revolutionized disease management and has transformed CML from a life-threatening disease to a chronic condition for many patients. However, overcoming resistance, particularly related to leukemic stem cells (LSC) that can persist even when the bulk of the leukemic cells are eliminated, remains a significant challenge. Methods: K562 and KU812 cell lines were treated in vitro with the TKI Imatinib (IM). Gene expression, protein analysis, and metabolomic screening were conducted to investigate the ability of the drug to enhance stem cell (SC) features. Moreover, a gene ontology analysis was performed on different available datasets, to further consolidate our data. Results: 48 h of IM treatment can significantly increase the expression of genes related to SC self-renewal, particularly SOX2 and OCT 3/4. Interestingly, these modulations occur in cells that remain alive after drug treatment and that displayed features consistent with leukemia stem-like CML cells, suggesting that SC genes levels are crucial even in cell population survived upon TKI treatment. Moreover, after in silico analysis of available data, we observed an enrichment of SOX2/NANOG and OCT 3/4 signatures after TKI treatment, thus strengthening our results. Conclusions: Our results confirmed the relevance of LSC features after TKI treatment, highlighting the need for more effective and potentially curative strategies targeting LSCs to overcome resistance in CML. Full article
(This article belongs to the Special Issue Blood Disorders: Diagnosis, Management, and Future Opportunities)
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18 pages, 1596 KiB  
Article
Menstrual Blood as a Non-Invasive Alternative for Monitoring Vitamin Levels
by Amy L. Whitbread, Lucas Mittelmeier, Rajnish P. Rao, Wolfram Mittelmeier and Katrin Osmanski-Zenk
J. Clin. Med. 2024, 13(23), 7212; https://doi.org/10.3390/jcm13237212 - 27 Nov 2024
Viewed by 2573
Abstract
Background/Objectives: Menstrual blood has recently emerged as a novel specimen for diagnostics, offering a non-invasive alternative to traditional blood testing methods. Despite the importance of vitamins and monitoring their levels in preventative healthcare measures, the feasibility of measuring them in menstrual blood [...] Read more.
Background/Objectives: Menstrual blood has recently emerged as a novel specimen for diagnostics, offering a non-invasive alternative to traditional blood testing methods. Despite the importance of vitamins and monitoring their levels in preventative healthcare measures, the feasibility of measuring them in menstrual blood has yet to be explored. In this study, we aimed to assess the potential of using menstrual blood for determining vitamin levels by comparing their levels in menstrual blood to those in matched capillary blood samples. Methods: A prospective, monocentric, observational study was conducted with healthy, reproductive-aged voluntary participants. Menstrual blood was collected from 30 participants using a menstrual cup, and the corresponding capillary blood samples were obtained using a finger prick. The samples were transferred to dried blood spot (DBS) cards and analyzed using mass spectrometry to determine vitamin levels. Statistical analyses were performed to compare menstrual blood vitamin A and D levels, and hemoglobin, to those in capillary blood. Results: The vitamin levels could be ascertained from the menstrual blood, and were observed to significantly correlate with those from the capillary blood for both vitamin A (r = 0.77, p < 0.001) and vitamin D (r = 0.66, p < 0.001), despite being statistically different. Conclusions: The results of this pilot study demonstrate the potential utility of menstrual blood in estimating vitamin A and D levels, illustrating the prospect of a non-invasive menstrual blood-based vitamin test following larger clinical and analytical validation studies. Full article
(This article belongs to the Special Issue Blood Disorders: Diagnosis, Management, and Future Opportunities)
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11 pages, 249 KiB  
Article
Recurrent Early Pregnancy Loss and Congenital Thrombophilia: A Prospective Study
by Asma Basha, Yasmine Alkhatib, Tamara Tashtoush, Maysa Yousef, Laila Oweidi, Mohammad Alkhatib, Sally Al-Aqrabawi, Yazun Jarrar and Abdalla Awidi
J. Clin. Med. 2024, 13(22), 6871; https://doi.org/10.3390/jcm13226871 - 15 Nov 2024
Cited by 2 | Viewed by 1258
Abstract
Background/Objectives: This study aims to investigate the role of congenital single nucleotide thrombophilia in young females with early recurrent pregnancy loss (RPL). Methods: We studied 120 pregnant females with RPL and 80 matched females as a control with no RPL. Females [...] Read more.
Background/Objectives: This study aims to investigate the role of congenital single nucleotide thrombophilia in young females with early recurrent pregnancy loss (RPL). Methods: We studied 120 pregnant females with RPL and 80 matched females as a control with no RPL. Females were aged ≤ 35 years, had at least two consecutive first-trimester RPLs, and the acquired cause of RPL was excluded. A matched control group of 80 pregnant women with no RPL was studied. Coagulation tests included prothrombin time (PT), partial thromboplastin time (PTT), thrombin time (TT), a Factor XIII functional assay, and detecting IgM and IgG anti-beta2-Glycoprotein I (β2GPI) antibodies by an ELISA. The DNA samples were tested for Factor V Leiden, Factor II G20210A, Methylenetetrahydrofolate reductase (MTHFR C677T, A1298C), FXIII V34L, plasminogen activator inhibitor-1 (PAI-1) 4G/5G, endothelial protein C receptor (EPCR) A4600G, and endothelial protein C receptor (EPCR) G4678C. Results: Of the single nucleotide gene mutations investigated, the most relevant mutations were MTHFR C677T, MTHFR A1298C, heterozygous FXIII Val34Leu, and heterozygous FXIII 1694 C>T. Each of them conferred a statistically significant effect. There was a statistically significant protective role for the endothelial protein C receptor (EPCR) A2/A2, wild FXIII Val34Leu, and heterozygousFXIII1694 C>T. Conclusions: Our findings suggest the important role of congenital single nucleotide thrombophilia mutations in young Middle Eastern women with early RPL, particularly MTHFR mutations and FXIII Val34Leu. We found a protective effect of EPCR A2/A2, wild FXIIIVal34Leu, and heterozygous FXIII1694 C>T. We recommend additional studies to explore detrimental factors and protective factors. Full article
(This article belongs to the Special Issue Blood Disorders: Diagnosis, Management, and Future Opportunities)
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