Bernard–soulier syndrome - Open Access .click

Results 41 to 50 of about 1,427 (120)

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

Orphanet Journal of Rare Diseases, 2017
Background Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann’s thrombasthenia
Arshi Naz +9 more
doaj +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source

The GPIb-IX complex on platelets: insight into its novel physiological functions affecting immune surveillance, hepatic thrombopoietin generation, platelet clearance and its relevance for cancer development and metastasis

Experimental Hematology & Oncology, 2022
The glycoprotein (GP) Ib-IX complex is a platelet receptor that mediates the initial interaction with subendothelial von Willebrand factor (VWF) causing platelet arrest at sites of vascular injury even under conditions of high shear.
Gerd Bendas, Martin Schlesinger
doaj +1 more source

National Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population

Haemophilia, Volume 32, Issue 3, Page 646-657, May/June 2026.
ABSTRACT Introduction The National Bleeding Disorder Foundation (NBDF) Medical and Scientific Advisory Council (MASAC) was formed in 1954 and issues recommendations and advisories pertinent to the bleeding disorders community. MASAC is comprised of > 25 rotating members from different medical disciplines and lived experience experts.
Glaivy Batsuli +15 more
wiley +1 more source

GPIbα is the driving force of hepatic thrombopoietin generation

Research and Practice in Thrombosis and Haemostasis, 2021
Thrombopoietin (TPO), a glycoprotein hormone produced predominantly in the liver, plays important roles in the hematopoietic stem cell (HSC) niche, and is essential for megakaryopoiesis and platelet generation.
Danielle Karakas, Miao Xu, Heyu Ni
doaj +1 more source

Current gynaecological management of women and girls with bleeding disorders in the United Kingdom: A UKHCDO haemophilia treatment centre survey and evaluation of real‐world clinical practice for the British Journal of Haematology

British Journal of Haematology, Volume 208, Issue 2, Page 661-669, February 2026.
Summary Girls and women with bleeding disorders (GWBD) comprise more than half of all registered patients with bleeding disorders in the UK National Haemophilia Database. The gynaecological care of GWBD, until recently, has not been prioritised despite high health burdens, where four of every five patients experience heavy menstrual bleeding (HMB).
Laura Knox +17 more
wiley +1 more source

Subcutaneous Apomorphine Infusion Initiation Is Associated with Impulse Control Disorder Attenuation in Advanced Parkinson's Disease Patients: Insights from the French NS‐Park Cohort

Movement Disorders Clinical Practice, Volume 13, Issue 1, Page 142-153, January 2026.
Abstract Background Impulse control disorders (ICD) are common non‐motor complications in Parkinson's disease (PD), particularly in patients receiving oral dopamine agonists (DA). Continuous subcutaneous apomorphine infusion (CSAI) is a device‐aided therapy for advanced PD, but its effects on ICD remain underexplored in real‐world settings.
Clément Desjardins +249 more
wiley +1 more source

Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial

Haematologica, 2020
Patients with inherited thrombocytopenias often require platelet transfusions to raise their platelet count before surgery or other invasive procedures; moreover, subjects with clinically significant spontaneous bleeding may benefit from an enduring ...
Carlo Zaninetti +13 more
doaj +1 more source

Journal of Cellular and Molecular Medicine, Volume 30, Issue 1, January 2026.
ABSTRACT Glanzmann thrombasthenia (GT) is an inherited hemorrhagic disorder characterised by impaired platelet functions, manifested clinically as spontaneous bleeding. It is usually inherited in an autosomal recessive manner. Platelet dysfunction in patients with GT is caused by quantitative and/or qualitative deficiencies in αIIbβ3, which result from
Jiao Wu +14 more
wiley +1 more source

Mon‐Pu (Glochidion perakense Hook.f.) as a Promising Novel Natural Source of Antithrombotic and Antioxidant Benefits

Advances in Pharmacological and Pharmaceutical Sciences, Volume 2026, Issue 1, 2026.
Current evidence suggests that regular consumption of food‐functioned fruits and vegetables could reduce the risk of thrombosis. While some indigenous vegetables from Southern Thailand have been reported to exhibit anticoagulant and antiplatelet activities, their fibrinolytic and thrombolytic properties remain unexplored.
Surachai Techaoei +4 more
wiley +1 more source

bernard-soulier syndrome
diseases of the blood and blood-forming organs
thrombocytopenia

bleeding disorder
bernard soulier syndrome
platelets