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Advances in Hematological Disorders: New Insights and Novel Methods

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Immunology".

Deadline for manuscript submissions: closed (10 January 2024) | Viewed by 678

Special Issue Editors


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Guest Editor
Biology Laboratory, School of Science and Technology, Hellenic Open University, 26335 Patras, Greece
Interests: molecular medicine; epigenetics; gene expression; biotechnology; chromatin architecture

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Guest Editor
Department of Internal Medicine, Hematology Division, Medical School—University Hospital, University of Patras, 265 04 Patras, Greece
Interests: myelodysplastic syndromes; multiple myeloma; lymphoproliferative disorders; chronic myeloproliferative neoplasms; erythropoiesis; iron metabolism; thalassemia; gaucher disease
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
1. Laboratory of Pharmacogenomics and Individualized Therapy, Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, GR-26504 Rion, Greece
2. Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain P.O. Box 15551, United Arab Emirates
3. Clinical Bioinformatics Unit, Department of Pathology, School of Medicine and Health Sciences, Erasmus University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands
Interests: pharmacogenomics; personalized therapeutics; clinical care; clinical implementation; clinical studies; pharmacogenomic testing; health technoloigy assessment; regulatory guidance
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Hematological disorders, either congenital or acquired, are usually heterogeneous and mainly driven by genetic mutations and/or epigenetic alterations. Decoding the molecular pathogenesis, investigating the shifted genetic/epigenetic mechanisms and regulating differential gene and non-coding RNA transcripts’ expression may help to determine better risk stratification tools and minimal residual disease profiles. New advanced technologies ensure the accurate quantification of molecular components, underlying the pathogenesis and progression of hematological disorders. However, the distance between advanced technologies and applications in daily clinical practice is currently unbridgeable, due to the high cost and complexity of molecular diagnostic procedures. Precise molecular diagnosis, the recognition of crucial molecular targets for each disorder and the discovery of effective targeted therapeutic agents, are of significant importance and may improve all aspects of clinical practice, including prognosis, diagnosis and prediction of response to specific treatments, as well as the design of personalized treatment approaches for all types of patients.

Dr. Argyro Sgourou
Prof. Dr. Argiris S. Symeonidis
Prof. Dr. George P. Patrinos
Guest Editors

Manuscript Submission Information

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Keywords

  • hematological disorders
  • diagnosis
  • mutations
  • epigenome
  • treatment
  • response biomarkers
  • advanced technologies
  • molecular targets

Published Papers (1 paper)

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Review

14 pages, 1294 KiB  
Review
ADAMTS13 in the New Era of TTP
by Anna Papakonstantinou, Panagiotis Kalmoukos, Aikaterini Mpalaska, Evaggelia-Evdoxia Koravou and Eleni Gavriilaki
Int. J. Mol. Sci. 2024, 25(15), 8137; https://doi.org/10.3390/ijms25158137 (registering DOI) - 26 Jul 2024
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Abstract
Thrombotic thrombocytopenic purpura (TTP) is a life-threatening, often immune-mediated disease that affects 2–13 persons per million per year. Hemolytic anemia, thrombocytopenia, and end-organ damage due to the formation of microthrombi are characteristic of TTP. ADAMTS13 is a disintegrin, metalloproteinase, cleaving protein of von [...] Read more.
Thrombotic thrombocytopenic purpura (TTP) is a life-threatening, often immune-mediated disease that affects 2–13 persons per million per year. Hemolytic anemia, thrombocytopenia, and end-organ damage due to the formation of microthrombi are characteristic of TTP. ADAMTS13 is a disintegrin, metalloproteinase, cleaving protein of von Willebrand factor (VWF) that processes the VWF multimers to prevent them from interacting with platelets and, in turn, to microvascular thrombosis. Prompt diagnosis of TTP is critical yet challenging. Thrombotic microangiopathies have similar clinical presentation. Measurement of ADAMTS13 activity helps in the differential diagnosis. Less than 10% ADAMTS13 activity is indicative of TTP. Laboratory ADAMTS13 activity assays include incubating the test plasma with the substrate (full-length VWM multimers) and detection with direct or indirect measurement of the cleavage product. The purpose of this study is to examine the diagnostic potential, advantages, and weaknesses of the ADAMTS13 potency in TTP. Full article
(This article belongs to the Special Issue Advances in Hematological Disorders: New Insights and Novel Methods)
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