Results 31 to 40 of about 1,427 (117)

Testing for Non‐Severe Heritable Platelet Function Disorders

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Heritable platelet function disorders (HPFD) are a diverse group of bleeding disorders characterised by a primary qualitative defect in platelet function rather than platelet number. HPFD may be broadly categorised according to the severity of bleeding, with Glanzmann thrombasthenia and Bernard Soulier syndrome classically considered severe ...
Kate Burley, Naomi Cornish, Maria Molina Carretero, Sarah K. Westbury   +3 more
wiley   +1 more source

Acquired Bernard–Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab

Research and Practice in Thrombosis and Haemostasis
Background: Bernard-Soulier syndrome (BSS) is an autosomal recessive disorder caused by deficient platelet glycoprotein Ib-IX-V expression resulting in abnormal bleeding, thrombocytopenia, giant platelets, and reduced platelet aggregation response to ...
Lauren G. Banaszak, Paula A. Clark, Christopher G. Peterson, John Sheehan   +3 more
doaj   +1 more source

Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene

Stem Cell Research, 2017
Bernard Soulier Syndrome (BSS) is a rare autosomal platelet disorder characterized by mutations in the von Willebrand factor platelet receptor complex GPIb-V-IX.
Lourdes Lopez-Onieva, Mar Lamolda, Rosa Montes, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J. Real   +7 more
doaj   +1 more source

Functional validation of a modified platelet desialylation test for immune and hereditary thrombocytopenias

Transfusion Medicine, EarlyView.
Abstract Background Thrombocytopenia arises from heterogeneous inherited and acquired disorders, and identifying the underlying platelet clearance mechanisms remains challenging. Platelet desialylation, characterised by loss of sialic acid and consequent exposure of terminal β‐galactose residues recognised by the Ashwell–Morell receptor, represents an ...
Karen Nogueira Chinoca Ziza, Thamy Caroline Silva, Mateus Domentino, Marina Cavalcanti Albuquerque Veiga Conrado, João Vitor Bernardo Oliveira, Felipe Augusto Rós, Caroline Gabe, Elyse Moritz, Akemi Chiba, Paula Villaça, Vanderson Rocha, Alfredo Mendrone‐Junior, José Bordin, Dante Langhi, Carla Luana Dinardo   +14 more
wiley   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from a Bernard–Soulier syndrome patient carrying a W71R mutation in the GPIX gene

Stem Cell Research, 2016
We generated an induced pluripotent stem cell (iPSC) line from a Bernard–Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4).
Lourdes Lopez-Onieva, Rosa Montes, Mar Lamolda, Tamara Romero, Verónica Ayllon, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J. Real   +9 more
doaj   +1 more source

Optimizing Emergency Department Care for People With Bleeding Disorders: A Scoping Review of Barriers and Interventions for Improvement

Haemophilia, Volume 32, Issue 5, Page 1135-1159, September/October 2026.
ABSTRACT Background Emergency department (ED) care is critical for managing acute bleeding events in people with bleeding disorders. Despite international guidelines recommending haemostatic treatment within 30–60 min, delays and deviations from best practices are common and associated with poorer outcomes.
Ling‐Yi Guo, Diane L. Lorenzetti, Natalia Rydz, Dawn Goodyear, Julia Hews‐Girard, Garrick Mok, Roy Khalife, Kelsey Uminski   +7 more
wiley   +1 more source

Glanzmann′s thrombasthenia: A case report and review

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Glanzmann′s thrombasthenia (GT) is a rare autosomal recessive disorder and characterized by a lack of platelet aggregation due to the absence of platelet glycoprotein (GP) Ilb and Illa. Usually, the disease leads to mild hemorrhage but sometimes bleeding
Ajit D Dinkar, Sujata K Satoskar, Amit Gothwal   +2 more
doaj   +1 more source

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 856-865, August 2026.
ABSTRACT Background Inherited platelet disorders (IPDs) are rare hematologic conditions encompassing a heterogeneous spectrum of quantitative and qualitative platelet defects, frequently associated with variable clinical phenotypes and comorbidities. Accurate diagnosis necessitates comprehensive genetic characterization, detailed clinical and bleeding ...
Silvia Ferrari, Daniela Regazzo, Antonella Bertomoro, Anna Cerbo, Alessandro Galbiati, Elisabetta Cosi, Paolo Simioni   +6 more
wiley   +1 more source

Investigator‐Led Research to Improve the Diagnostic Assessment of Platelet Function Disorders: Reflections on the Challenges and Rewards

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 721-731, August 2026.
ABSTRACT Introduction Investigator‐led research and quality improvement initiatives have led to important improvements in the diagnostic assessment of platelet function disorders (PFD). Methods Personal reflections were used to summarize our contributions to knowledge on PFD diagnostic assessment, pathogenesis, and bleeding risks.
Catherine P. M. Hayward
wiley   +1 more source

Preoperative blood transfusion for gynecological operation of a patient with Bernard-Soulier syndrome: Case report [PDF]

Sanamed, 2011
Bernard-Soulier syndrome belongs to congenital thrombocytopathic platelet disorders. There is a change of the structure of the glycoprotein in platelet membrane, causing the impair of platelet adherence on the blood vessel wall.
Pešić-Stevanović Ivana, Zamurović Milena, Ćurković Aleksandar, Kostovska-Mićević Lenka, Stanojević Dušan, Elezović Ivo   +5 more
doaj