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Diagnostics
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New Assays in the Diagnosis of Coagulation Protein Disorders
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New Assays in the Diagnosis of Coagulation Protein Disorders

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

Deadline for manuscript submissions: closed (31 December 2022) | Viewed by 14916

Special Issue Editor

Dr. Claudia Maria Radu

E-Mail Website
Guest Editor
Department of Women’s & Children’s Health and Thrombotic and Haemorrhagic Diseases Unit, Department of Medicine, University of Padua Medical School, Padua, Italy
Interests: thrombosis; bleeding; platelet activation; new coagulation tests; rare diseases; diagnosis

Special Issue Information

Dear Colleagues,

Haemorrhagic or thrombotic coagulation disorders can be either congenital or acquired. Abnormal coagulation factors lead to the development of bleeding or thrombosis. In general, to measure the levels and functions of specific coagulation factors, different clot-based tests and chromogenic assays are used. Some bleeding and thrombosis coagulation disorders can evade routing coagulation screening tests, such as partial thromboplastin time (aPTT) and prothrombin time (PT). In some cases, there is a poor correlation between laboratory results and the bleeding/thrombosis phenotype. A complex panel of specific tests is needed for the correct diagnoses of coagulation defects. It is noteworthy that the mild or asymptomatic clinical manifestation of thrombosis or bleeding makes the diagnosis of some coagulation defects difficult. Although new-generation instruments and more sensitive tests are available for the detection of coagulation disorders, there still remains a lack of information about these disorders.

This aim of this Special Issue, titled "New Assays in the Diagnosis of Coagulation Protein Disorders," is to focus on the collection and evaluation regarding the utility of more sensitive coagulation assays/methods and of new instruments for the diagnosis of coagulation disorders. Moreover, evaluations of the efficacy and monitoring of replacement therapy through new coagulation assays are welcome. Subsequently, evaluations of these tests as future biomarkers in the diagnosis and therapy of different coagulation protein disorders are encouraged.

Dr. Claudia Maria Radu
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

  • bleeding
  • thrombosis
  • new coagulation assays
  • diagnosis
  • rare diseases
  • platelet activation

Published Papers (4 papers)

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Research

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14 pages, 1109 KiB  
Article
Reference Intervals for Coagulation Parameters in Developmental Hemostasis from Infancy to Adolescence
by Giovina Di Felice, Matteo Vidali, Gelsomina Parisi, Simona Pezzi, Alessandra Di Pede, Giulia Deidda, Matteo D’Agostini, Michaela Carletti, Stefano Ceccarelli and Ottavia Porzio
Diagnostics 2022, 12(10), 2552; https://doi.org/10.3390/diagnostics12102552 - 20 Oct 2022
Cited by 3 | Viewed by 1751
Abstract
Background: The objective of this study was to establish the age and sex-dependent reference intervals for coagulation assays evaluated in healthy children, ranging from 0 days to 16 years old. Methods: PT, aPTT, Fibrinogen (functional), Antithrombin activity, Protein C anticoagulant activity, [...] Read more.
Background: The objective of this study was to establish the age and sex-dependent reference intervals for coagulation assays evaluated in healthy children, ranging from 0 days to 16 years old. Methods: PT, aPTT, Fibrinogen (functional), Antithrombin activity, Protein C anticoagulant activity, Protein S free antigen, Thrombin time, D-Dimer, Von Willebrand Factor antigen, Lupus anticoagulant (screening), extrinsic and intrinsic pathway factors, and activated Protein C resistance were evaluated using STA-R Max2. Results: A total of 1280 subjects (671 males and 609 females) were divided into five groups, according to their age: 0–15 days (n = 280, 174 M and 106 F), 15–30 days (n = 208, 101 M and 107 F), 1–6 months (n = 369, 178 M and 191 F), 6–12 months (n = 214, 110 M and 104 F), and 1–16 years (n = 209, 108 M and 101 F). The 95% reference intervals and the 90% CI were established using the Harrell–Davis bootstrap method and the bootstrap percentile method, respectively. Conclusions: The present study supports the concept that adult and pediatric subjects should be evaluated using different reference intervals, at least for some coagulation tests, to avoid misdiagnosis, which can potentially lead to serious consequences for patients and their families, and ultimately the healthcare system. Full article
(This article belongs to the Special Issue New Assays in the Diagnosis of Coagulation Protein Disorders)
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16 pages, 1770 KiB  
Article
Multimer Analysis of Von Willebrand Factor in Von Willebrand Disease with a Hydrasys Semi-Automatic Analyzer—Single-Center Experience
by Ingrid Skornova, Tomas Simurda, Jan Stasko, Jana Zolkova, Juraj Sokol, Pavol Holly, Miroslava Dobrotova, Ivana Plamenova, Jan Hudecek, Monika Brunclikova, Alena Stryckova and Peter Kubisz
Diagnostics 2021, 11(11), 2153; https://doi.org/10.3390/diagnostics11112153 - 20 Nov 2021
Cited by 7 | Viewed by 3719
Abstract
von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder. This disorder develops as a result of defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for VWF-related disorders requires the assessment of both VWF level and [...] Read more.
von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder. This disorder develops as a result of defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for VWF-related disorders requires the assessment of both VWF level and VWF activity, the latter requiring multiple assays. As an additional step, an evaluation of VWF structural features by multimer analysis is useful in selective investigations. Multimer analysis is also important for the selection of a suitable VWF therapy preparation (desmopressin, VWF/FVIII concentrate, recombinant VWF) and the determination of the correct dose for the patient. Based on clinical and laboratory findings, including the analysis of VWF multimers, we classified our patients into individual types of VWD. Our study group included 58 patients. The study group consisted of 66% (38 patients) with VWD type 1, 5% (3 patients) with VWD type 2, 7% (4 patients) with VWD type 3, 5% (3 patients) with mixed type 1/2A VWD, and 17% (10 patients) comprising an unclassified group. In this article, we provide an overview of our practical experience using a new complementary method—the analysis of von Willebrand factor multimers with a semi-automatic analyzer Hydrasys 2 scan. We explain the principle, procedure, advantages, and pitfalls associated with the introduction of the VWF multimer analysis methodology into standard VWD diagnostics. Full article
(This article belongs to the Special Issue New Assays in the Diagnosis of Coagulation Protein Disorders)
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8 pages, 3399 KiB  
Article
Evaluation of the Determination of Dabigatran, Rivaroxaban, and Apixaban in Lupus Anticoagulant-Positive Patients
by Jana Úlehlová, Barbora Piskláková, Eliška Ivanovová, Jana Procházková, Pavla Bradáčová, Aleš Kvasnička, David Friedecký and Luděk Slavík
Diagnostics 2021, 11(11), 2027; https://doi.org/10.3390/diagnostics11112027 - 02 Nov 2021
Cited by 3 | Viewed by 2193
Abstract
Background: The effect of direct oral anticoagulants (DOAC) on laboratory tests dependent on the production of their targets, factor IIa and factor Xa, is a well-known problem and can cause both false positive and negative results. In particular, the situation in patients who [...] Read more.
Background: The effect of direct oral anticoagulants (DOAC) on laboratory tests dependent on the production of their targets, factor IIa and factor Xa, is a well-known problem and can cause both false positive and negative results. In particular, the situation in patients who develop lupus anticoagulant (LA) antibodies is highly complex. To evaluate the effectiveness of DOAC therapy in lupus-positive patients, 31 samples were enrolled in this retrospective study. All patient samples were spiked with three types of DOAC (dabigatran, DABI; rivaroxaban, RIVA; and apixaban, API) in a concentration that significantly influenced the screening test for LA and thus can mask the presence of LA. Subsequently, the DOAC was always unbound by the DOAC-Stop procedure. DOAC levels before and after binding were determined by functional assays, followed by liquid chromatography coupled with mass spectrometry (LC-MS) analysis. Methods: The determination of DOAC levels was performed by direct thrombin assay and determination of anti-Xa activity with specific calibration as functional tests for DABI and xabans (API and RIVA). To determine concentration levels of API, DABI, and RIVA, our in-house LC-MS method was used. Results: The results of LA-positive samples show significant differences between functional tests and the LC-MS method both before and after DOAC binding. Conclusions: The acute findings of the presence of LA-type antibodies fundamentally affects the determination of DOAC by functional tests, and in this case, it is necessary to use LC-MS analysis to determine the true value. If patients treated with DOAC develop LA of medium and higher titers, we do not recommend checking DOAC levels with functional tests. Full article
(This article belongs to the Special Issue New Assays in the Diagnosis of Coagulation Protein Disorders)
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Review

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17 pages, 1384 KiB  
Review
Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management
by Tomas Simurda, Rosanna Asselta, Jana Zolkova, Monika Brunclikova, Miroslava Dobrotova, Zuzana Kolkova, Dusan Loderer, Ingrid Skornova, Jan Hudecek, Zora Lasabova, Jan Stasko and Peter Kubisz
Diagnostics 2021, 11(11), 2140; https://doi.org/10.3390/diagnostics11112140 - 19 Nov 2021
Cited by 32 | Viewed by 6209
Abstract
Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous, being associated with bleeding, thrombosis, or absence of symptoms. Afibrinogenemia and hypofibrinogenemia are the consequence of mutations in [...] Read more.
Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous, being associated with bleeding, thrombosis, or absence of symptoms. Afibrinogenemia and hypofibrinogenemia are the consequence of mutations in the homozygous, heterozygous, or compound heterozygous state in one of three genes encoding the fibrinogen chains, which can affect the synthesis, assembly, intracellular processing, stability, or secretion of fibrinogen. In addition to standard coagulation tests depending on the formation of fibrin, diagnostics also includes global coagulation assays, which are effective in monitoring the management of replacement therapy. Genetic testing is a key point for confirming the clinical diagnosis. The identification of the precise genetic mutations of congenital fibrinogen disorders is of value to permit early testing of other at risk persons and better understand the correlation between clinical phenotype and genotype. Management of patients with afibrinogenemia is particularly challenging since there are no data from evidence-based medicine studies. Fibrinogen concentrate is used to treat bleeding, whereas for the treatment of thrombotic complications, administered low-molecular-weight heparin is most often. This review deals with updated information about afibrinogenemia and hypofibrinogenemia, contributing to the early diagnosis and effective treatment of these disorders. Full article
(This article belongs to the Special Issue New Assays in the Diagnosis of Coagulation Protein Disorders)
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