Results 41 to 50 of about 2,361,484 (180)

Mutations in Indian patients with Bernard Soulier Syndrome (BSS).

, 2014
§Novel variations, $ Common variation.Mutations in Indian patients with Bernard Soulier Syndrome (BSS).
Shrimati D. Shetty (566739), Leenam Mota (638185), Sharda Shanbhag (638186), Shehnaz Ali (638187), Kanjaksha Ghosh (487786), Manasi Vijapurkar (638184), Sona B. Nair (638183), Bipin P. Kulkarni (638182)   +7 more
core   +1 more source

Bernard–Soulier Syndrome (BSS) & tuberculosis: A case report

International Journal of Mycobacteriology, 2014
Background: Bernard–Soulier Syndrome (BSS) is a rare congenital bleeding disorder characterized by thrombocytopenia. BSS causes bruising, epistaxis, gingival bleeding hemorrhage, post-partum bleeding, gastrointestinal bleeding and post-traumatic ...
Maryam Hasanzad
doaj   +1 more source

A CASE REPORT OF BERNARD-SOULIER SYNDROME IN DIFFERENTIAL DIAGNOSIS OF IMMUNE THROMBOCYTOPENIC PURPURA

, 2018
Bernard-Soulier Syndrome (BSS)is a rare hereditary disorder.Platelets in patients with BSS are unable to adhere, leading to an increased bleeding tendency. BSS cases are often misdiagnosed as idiopathic thrombocytopenic purpura (ITP).
Ruaa Omar Nughays, Abdul Rahman Hassan Issa, Tyseer Hassan Ahmed Hassan, Lina Ahmed Wasfi, Walaa Mohammed Hafez Hassan, Shatha Ahmad Awad Aljuhani   +5 more
core   +1 more source

Perforated hemorrhagic cholecystitis in a patient with Bernard–Soulier syndrome

, 2022
© 2022, Japanese Society of Gastroenterology.Bernard–Soulier syndrome is an inherited coagulopathy, with an incidence of one per million. Hemorrhagic cholecystitis is a rare and life-threatening complication of acute cholecystitis.
Karaisli, Serkan, Kokulu, Ibrahim, Haciyanli, Mehmet, Coskun, Hizir Taner, Celik, Salih Can   +4 more
core   +1 more source

Smartphone‐Based Teledentistry to Support Clinical Triage and Risk‐Informed Dental Care in Patients With Inherited Bleeding and Haemoglobin Disorders: A Cross‐Sectional Diagnostic Agreement Study

Haemophilia, EarlyView.
ABSTRACT Introduction Patients with inherited bleeding and haemoglobin disorders face barriers to accessing timely dental care, increasing the risk of untreated oral disease and complications related to invasive procedures. Aim To evaluate the agreement between smartphone‐based asynchronous teledentistry and face‐to‐face examination for oral conditions,
Victor Cordeiro da Silva, Carolina Mendes Frusca do Monte, Leandro Tavares da Silva, Gabriela Silva Almeida, Claudia Santos Lorenzato, José Vitor Nogara Borges de Menezes, Fabian Calixto Fraiz, Cassius Carvalho Torres‐Pereira   +7 more
wiley   +1 more source

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

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

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

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