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Operationalising a Haemophilia Gene Editing Lexicon for Practical Use.
Haemophilia
January 2025
Medicine and Pathology, Georgetown University, Washington, District of Columbia, USA.
Introduction: Gene editing therapies offer the possibility of substantial improvement in treatment and quality of life for people with haemophilia (PWH) in a landscape of dynamic therapeutic advancement. Developing a common and understandable language to discuss gene editing will be essential to ensure these treatments can be deployed in a safe and effective manner with fully informed and shared decision-making between healthcare professionals (HCPs) and PWH. A lexicon explaining and clarifying key concepts is one potential tool to address these aims.
View Article and Find Full Text PDFCancer History, Antiphospholipid Syndrome, and Lupus Anticoagulant: A Perfect Storm for Thrombosis.
Cureus
December 2024
Pulmonary and Critical Care, Jackson Memorial Hospital, Miami, USA.
Cancer and antiphospholipid syndrome (APS) independently increase thrombotic risk, and their coexistence can create a particularly hazardous prothrombotic state. This case report aims to highlight the complex challenges in managing concurrent thrombotic and hemorrhagic events in patients with a history of cancer and APS. The combination of these conditions presents a rare and difficult clinical scenario, requiring careful consideration in anticoagulation management.
View Article and Find Full Text PDFInvestigating Elevated E-Selectin and P-Selectin Levels in Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION) Patients: The Stepping Stone to a Future Clinical Approach.
Acta Med Indones
October 2024
1. Doctoral Program in Medical Science, Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia. 2. Neuro-ophthalmology Division, Department of Ophthalmology, Faculty of Medicine Universitas Indonesia - Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia..
Background: Studies regarding hypercoagulation in Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION) patients have produced conflicting results. With a presumption that the early coagulation phase may affect the occurrence of NAION, this study aims to investigate the early coagulation markers, E-selectin and P-selectin, to determine whether these biomolecular changes play a significant role in NAION, thus potentially leading to a better clinical approach.
Methods: A cross-sectional study involving two groups of NAION subjects, a hypercoagulation group and a non-hypercoagulation group, was conducted in the Neuro-Ophthalmology Division, Department of Ophthalmology, FKUI-RSCM Kirana from October 2020 to April 2022.
Evaluation of MRX PT DOAC as a new screening method for detecting interferences in thrombophilia analyses.
Scand J Clin Lab Invest
January 2025
Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
Background: Direct oral anticoagulants (DOACs) can interfere with coagulation analyses, causing erroneous results such as false-positive lupus anticoagulant and false-normal antithrombin, threatening patient safety when overlooked. A test using a prothrombin time quotient method to detect DOAC presence in plasma samples is now commercially available, the MRX PT DOAC, with the result expressed as Clot Time Ratio (CTR).
Objectives: Evaluate the ability of MRX PT DOAC to identify interfering apixaban or rivaroxaban concentrations, identify non-interfering or interfering patient samples, and detect whether a patient is on DOAC treatment.
Flow Cytometry Evaluation of Blood-Cell-Bound Surface FVIII in Hemophilia A and Thrombosis.
Cells
January 2025
Research Department, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Hemophilia A (HA) is associated with FVIII coagulation insufficiency or inactivity leading to excessive bleeding. Elevated FVIII, on the contrary, is associated with thrombophilia, thrombosis, myocardial infarctions, and stroke. Active FVIII (aFVIII) uses its C2 domain to bind to blood cells' membranes, consequently carrying out its coagulative function.
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