Results 1 to 10 of about 146,739 (334)

Mechanisms of thrombocytopenia in platelet-type von Willebrand disease

Haematologica, 2019
Platelet-type von Willebrand disease is an inherited platelet disorder characterized by thrombocytopenia with large platelets caused by gain-of-function variants in GP1BA leading to enhanced GPIbα-von Willebrand factor (vWF) interaction.
Loredana Bury, Alessandro Malara, Stefania Momi, Eleonora Petito, Alessandra Balduini, Paolo Gresele   +5 more
doaj   +2 more sources

von Willebrand Factor (VWF) Inhibitors in Two Brothers with von Willebrand Disease: A Case Report [PDF]

TH Open
The development of inhibitors to von Willebrand factor (VWF) is a rare but potentially serious complication of VWF replacement therapy in patients with von Willebrand disease (VWD).
Claudia Djambas Khayat, Anna Pavlova, Sylvia Werner, Sigurd Knaub, Robert F. Sidonio   +4 more
doaj   +2 more sources

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients

Haematologica, 2017
Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses.
Nina Borràs, Javier Batlle, Almudena Pérez-Rodríguez, María Fernanda López-Fernández, Ángela Rodríguez-Trillo, Esther Lourés, Ana Rosa Cid, Santiago Bonanad, Noelia Cabrera, Andrés Moret, Rafael Parra, María Eva Mingot-Castellano, Ignacia Balda, Carme Altisent, Rocío Pérez-Montes, Rosa María Fisac, Gemma Iruín, Sonia Herrero, Inmaculada Soto, Beatriz de Rueda, Víctor Jiménez-Yuste, Nieves Alonso, Dolores Vilariño, Olga Arija, Rosa Campos, María José Paloma, Nuria Bermejo, Rubén Berrueco, José Mateo, Karmele Arribalzaga, Pascual Marco, Ángeles Palomo, Lizheidy Sarmiento, Belén Iñigo, María del Mar Nieto, Rosa Vidal, María Paz Martínez, Reyes Aguinaco, Jesús María César, María Ferreiro, Javier García-Frade, Ana María Rodríguez-Huerta, Jorge Cuesta, Ramón Rodríguez-González, Faustino García-Candel, Rosa Cornudella, Carlos Aguilar, Francisco Vidal, Irene Corrales   +48 more
doaj   +2 more sources

ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease.

Blood Advances, 2021
BACKGROUND von Willebrand disease (VWD) is the most common inherited bleeding disorder known in humans. Accurate and timely diagnosis presents numerous challenges.
P. James, Nathan T Connell, B. Ameer, J. Di Paola, J. Eikenboom, Nicolas Giraud, S. Haberichter, Vicki Jacobs-Pratt, B. Konkle, C. McLintock, Simon McRae, Robert R Montgomery, J. O’Donnell, Nikole Scappe, R. Sidonio, V. Flood, Nedaa M Husainat, Mohamad A. Kalot, R. Mustafa   +18 more
semanticscholar   +1 more source

ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease.

Blood Advances, 2021
BACKGROUND von Willebrand disease (VWD) is a common inherited bleeding disorder. Significant variability exists in management options offered to patients.
Nathan T Connell, V. Flood, R. Brignardello-Petersen, R. Abdul-Kadir, Alice Arapshian, Susie Couper, Jean M Grow, P. Kouides, M. Laffan, M. Lavin, F. Leebeek, S. O’Brien, M. Ozelo, A. Tosetto, A. Weyand, P. James, Mohamad A. Kalot, Nedaa M Husainat, R. Mustafa   +18 more
semanticscholar   +1 more source

Evaluation of a new semi-automated Hydragel 11 von Willebrand factor multimers assay kit for routine use [PDF]

Journal of Medical Biochemistry, 2021
Background: Accurate diagnosis and classification of von Willebrand disease (VWD) are essential for optimal management. The von Willebrand factor multimers analysis (VWF:MM) is an integral part of the diagnostic process in the phenotypic classification ...
Pikta Marika, Szanto Timea, Viigimaa Margus, Lejniece Sandra, Balode Dārta, Saks Kadri, Banys Valdas   +6 more
doaj   +1 more source

VON WILLEBRAND DISEASE [PDF]

Romanian Journal of Pediatrics, 2009
Described by Erik Adolf von Willebrand in 1926, it is a constitutional hemorrhagic disease, inherited in the autosomal mode. Considered initially as a thrombopathic disease, then as a prologation of the bleeding time associated to a defi cit in the ...
Valeriu Popescu, Andrei Zamfirescu
doaj   +1 more source

New developments in von Willebrand disease

British Journal of Haematology, 2020
Von Willebrand disease (VWD) constitutes the most common inherited human bleeding disorder. It is associated with a mucocutaneous bleeding phenotype that can significantly impact upon quality of life.
Helen Fogarty, D. Doherty, J. O’Donnell   +2 more
semanticscholar   +1 more source

Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor

Haematologica, 2020
We report a new pathogenic mechanism in von Willebrand disease involving the use of a non-canonical splicing site. The proband, carrying the homozygous c.2269_2270del mutation previously classified as a type 3 mutation, showed severely reduced plasma and
Viviana Daidone, Eva Galletta, Luigi De Marco, Alessandra Casonato   +3 more
doaj   +1 more source

von Willebrand factor activity and activated partial thromboplastin time as proxy biomarkers for coagulopathies in women with menorrhagia in Zambia: a case-control study

The Pan African Medical Journal, 2021
INTRODUCTION: von Willebrand Disease (vWD) is the most prevalent bleeding disorder. Women are more likely to manifest abnormal bleeding symptoms due to physiologic events and menorrhagia is the most common presenting symptom.
Miyoba Melinda Munsanje, Trevor Kaile, Sumbukeni Kowa, Musalula Sinkala, Marah Simakando, Jacob Ndhlovu, Brian Chanda Chiluba   +6 more
doaj   +1 more source