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J Thromb Haemost
December 2024
Thrombosis Research Group, Department of Clinical Medicine, UiT The Arctic University of North Norway, Tromsø,Norway; Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway.
Background: Atrial fibrillation (AF) is a major risk factor for ischemic stroke. Whether prothrombotic single nucleotide polymorphisms (SNPs) impact stroke risk in AF is not well known.
Objectives: To investigate the joint effects of five prothrombotic SNPs and AF on ischemic stroke risk.
Haemophilia
December 2024
Institute of Experimental Hematology and Transfusion Medicine, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany.
Introduction: Maintaining the balance between procoagulant and anticoagulant factors is essential for effective haemostasis. Emerging evidence suggests a modulation of bleeding tendency by factors in the anticoagulant and fibrinolytic systems.
Aim: This study investigates the clinical and laboratory characteristics of a family with combined von Willebrand disease (VWD) and antithrombin (AT) deficiency.
Diagnostics (Basel)
November 2024
"Nicolae Oblu" Clinical Hospital, 700309 Iasi, Romania.
Arteriovenous malformations (AVMs) are complex vascular anomalies that can present with significant complications, including intracranial hemorrhage. This report presents the case of a 36-year-old female with Prothrombin G20210A mutation-associated thrombophilia, highlighting its potential impact on AVM pathophysiology and management. The patient presented with a right paramedian intraparenchymal frontal hematoma, left hemiparesis, and seizures.
View Article and Find Full Text PDFJ Clin Med
November 2024
Thrombosis Hemostasis Laboratory, School of Medicine, The University of Jordan, Amman 11942, Jordan.
: This study aims to investigate the role of congenital single nucleotide thrombophilia in young females with early recurrent pregnancy loss (RPL). : 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.
View Article and Find Full Text PDFMed Sci (Basel)
November 2024
Dietetetics and Biomedical Department, School of Health Sciences Aegean College, 45 Tsimiski Str., 54623 Thessaloniki, Greece.
Background: Thrombophilia, characterized by an increased risk of thrombosis, can result from genetic polymorphisms in clotting factors. This study aims to investigate the prevalence of factor V Leiden (G1691A), factor II prothrombin (G20210A), and MTHFR (C677T and A1298C) polymorphisms in a Greek population, evaluating not only their association with thrombophilia, but also broader health implications.
Methods: We conducted a cross-sectional study involving one hundred apparently healthy adults from Thessaloniki, Greece.
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