Results 1 to 10 of about 522,194 (294)

Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency

Frontiers in Medicine, 2023
BackgroundThe American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have introduced an internationally shared framework for variant classification in genetic disorders.
Rosa Sonja Alesci, Carola Hecking, Benjamin Racké, Detlev Janssen, Carl-Erik Dempfle   +4 more
doaj   +1 more source

Recombinant factor IX‐Fc fusion protein in severe hemophilia B: Patient‐reported outcomes and health‐related quality of life

Research and Practice in Thrombosis and Haemostasis, 2021
Introduction In 2017, all people with severe hemophilia B in Ireland switched to recombinant factor IX Fc fusion protein concentrate (rFIXFc) prophylaxis.
Mairead O’Donovan, Eimear Quinn, Kate Johnston, Evelyn Singleton, Julie Benson, Brian O'Mahony, Declan Noone, Cleona Duggan, Ruth Gilmore, Kevin Ryan, James S. O'Donnell, Niamh M. O’Connell   +11 more
doaj   +1 more source

Higher cyclosporine-A concentration increases the risk of relapse in AML following allogeneic stem cell transplantation from unrelated donors using anti-thymocyte globulin

Scientific Reports, 2023
Cyclosporine-A (CsA) is used to prevent acute graft-versus-host disease (aGvHD). European Society for Blood and Marrow transplantation (EBMT) recommends a CsA target serum concentration of 200–300 µg/L during the first month after allogeneic ...
Mikael Lisak, Malin Nicklasson, Robert Palmason, Stina Wichert, Cecila Isaksson, Per-Ola Andersson, Jan-Erik Johansson, Stig Lenhoff, Mats Brune, Markus Hansson   +9 more
doaj   +1 more source

Direct Oral Anticoagulant removal by a DOAC filter: Impact on lupus anticoagulant testing – Evaluation on spiked and patient samples

Research and Practice in Thrombosis and Haemostasis, 2022
Background DOAC Filter (DF) is a new device to overcome interference in lupus anticoagulant (LAC) testing by direct oral anticoagulants (DOACs). Objectives We evaluated DOAC removal from plasma and elimination of DOAC interference in LAC testing by DF ...
Eleni A. Linskens, Pieter De Kesel, Katrien M. J. Devreese   +2 more
doaj   +1 more source

Heparin-induced thrombocytopenia and COVID-19

Hematology Reports, 2021
Heparin-induced thrombocytopenia (HIT) has not been included as a possible cause of thrombocytopenia in Coronavirus Disease 2019 (COVID-19) patients. We report a case of HIT in a patient with COVID-19 treated with heparin.
Michelangelo Sartori, Benilde Cosmi
doaj   +1 more source

Application of the thrombin generation assay in patients with antiphospholipid syndrome: A systematic review of the literature

Frontiers in Cardiovascular Medicine, 2023
BackgroundThe antiphospholipid syndrome (APS) is classified by the presence of antiphospholipid antibodies (aPL) and thrombotic and/or adverse obstetric outcomes. The diagnosis and risk assessment of APS is challenging.
Rachel Gehlen, Rachel Gehlen, Arne Vandevelde, Arne Vandevelde, Bas de Laat, Bas de Laat, Katrien M. J. Devreese, Katrien M. J. Devreese   +7 more
doaj   +1 more source

Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype

Platelets, 2018
Hermansky-Pudlak syndrome (HPS) − characterized by the distinct clinical phenotypes of both oculocutaneous albinism and mild bleeding diathesis–is caused by mutations in genes that have crucial roles in the assembly of cellular organelles (skin ...
Juliana Perez Botero, Dong Chen, Julie A. Majerus, Lea M. Coon, Rong He, Deepti M. Warad, Rajiv K. Pruthi, William L. Nichols   +7 more
doaj   +1 more source

Semi-automated thrombin dynamics applying the ST Genesia thrombin generation assay

Frontiers in Cardiovascular Medicine, 2022
BackgroundThe haemostatic balance is an equilibrium of pro- and anticoagulant factors that work synergistically to prevent bleeding and thrombosis.
Audrey Carlo, Qiuting Yan, Qiuting Yan, Hugo Ten Cate, Romy De Laat-Kremers, Romy De Laat-Kremers, Bas De Laat, Bas De Laat, Marisa Ninivaggi   +8 more
doaj   +1 more source

The effect of unfractionated heparin, enoxaparin, and danaparoid on lupus anticoagulant testing: Can activated carbon eliminate false‐positive results?

Research and Practice in Thrombosis and Haemostasis, 2020
Background Heparins and heparinoids interfere with functional clotting assays used for lupus anticoagulant (LAC) detection. However, current guidelines for LAC testing do not provide clear guidance on this matter.
Pieter M.M. De Kesel, Katrien M.J. Devreese   +1 more
doaj   +1 more source

Viscoelastic Testing in Liver Disease

Annals of Hepatology, 2018
Long thought to be hypocoagulable, new evidence suggests cirrhosis patients have “rebalanced” coagulation in the setting of decreased synthesis of both pro- and anti-coagulant factors. Traditional testing like PT/INR reflects only the decreased synthesis
Jessica P.E. Davis, Patrick G. Northup, Stephen H. Caldwell, Nicolas M. Intagliata   +3 more
doaj   +1 more source