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Multi-Gene Panel for Thrombophilia Testing in Venous Thromboembolism.
J Thromb Haemost
January 2025
Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium; Center for Molecular and Vascular Biology, Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium.
Background: Conventional tests for inherited thrombophilia focus on the five most-established inherited thrombophilias; i.e. deficiencies in antithrombin, protein C, and protein S, and the factor V Leiden and prothrombin G20210A variants.
View Article and Find Full Text PDFA new hereditary PROS1 gene mutation caused isolated cortical venous thrombosis.
Thromb Res
January 2025
Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou, Fujian, China. Electronic address:
Background: Protein S deficiency is a rare inherited disease. We report the case of a young man who unexpectedly developed isolated cortical vein thrombosis (ICoVT) associated with a novel PROS1 mutation.
Methods: Clinical symptoms were recorded, and physical examinations conducted.
Thrombosis in Children: A Retrospective Study from a Single-center Database.
In Vivo
December 2024
Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania.
Background/aim: The incidence and characteristics of pediatric thrombotic events have become increasingly recognized, due to the enhanced utilization of advanced diagnostic techniques. Pediatric thrombosis remains less frequent than in adults, often manifesting in those with underlying congenital or acquired risk factors. This study aimed to establish epidemiological data on pediatric thrombotic events in Bihor County, Romania, highlighting the challenges of diagnosis in smaller medical centers and proposing a relevant diagnostic and treatment algorithm.
View Article and Find Full Text PDFThe Association Between Janus Kinase 2 and Factor V Leiden Mutations and Thrombotic Complications in Patients With Myeloproliferative Disorders: A Study From Saudi Arabia.
Cureus
November 2024
Clinical Hematology, Khamis Mushait General Hospital, Khamis Mushait, SAU.
Background The Janus kinase 2 (JAK2) V617F mutations are related to increased thrombotic risk in patients with myeloproliferative disorders (MPDs). However, little is known about whether inherited thrombophilia represents an additive risk factor in mutated subjects. We addressed the association between combined mutations of JAK2 and factor V Leiden (FVL) and thrombotic complications in Saudi Arabian patients with MPDs.
View Article and Find Full Text PDFBehçet's disease and factor V Leiden: A thrombogenic synergy causing budd-chiari syndrome.
Radiol Case Rep
February 2025
Department of Internal Medicine, An Najah National University Hospital, Nablus, Palestine.
Behçet's Disease (BD) is a multisystem inflammatory disorder that can lead to severe vascular complications, including Budd-Chiari Syndrome (BCS), a rare but life-threatening condition characterized by hepatic vein obstruction. The co-occurrence of BD and inherited thrombophilia, such as Factor V Leiden mutation, significantly increases the risk of thrombosis, complicating the clinical management of affected individuals. In this case, a 16-year-old female initially presented with nonspecific symptoms of generalized fatigue and bone pain, which later progressed to abdominal distension and significant hepatosplenomegaly.
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