Results 61 to 70 of about 9,310 (270)

MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations [PDF]

, 2013
MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9).
Balduini, Carlo L., Barozzi, Serena, Bottega, Roberta, de Rocco, Daniela, Glembotsky, Ana Claudia, Heller, Paula Graciela, Noris, Patrizia, Pastore, Annalisa, Pecci, Alessandro, Pergantou, Helen, Platokouki, Helen, Savoia, Anna, Zieger, Barbara   +12 more
core   +1 more source

Outcomes and Healthcare Resource Utilisation in Adults With von Willebrand Disease Treated With Recombinant von Willebrand Factor in Surgical Settings in the United Kingdom

European Journal of Haematology, Volume 116, Issue 1, Page 75-84, January 2026.
ABSTRACT Objectives We describe treatment outcomes and healthcare resource utilisation (HCRU) in adults with von Willebrand disease (VWD) receiving recombinant von Willebrand factor (rVWF) in surgical settings in the United Kingdom. Methods Retrospective chart review of adults (≥ 18 years) with congenital VWD receiving first‐time rVWF for the ...
Mike Laffan, Heena Howitt, Cheryl Jones, Sarah Brighton, Rosa Willock, Anna Sanigorska, Oliver Heard   +6 more
wiley   +1 more source

Influence of heart rate variability on platelet hemostasis by average aggregate size in patients with chronic coronary heart disease in combination with COVID-19

Infusion & Chemotherapy
BACKGROUND. In order to prevent complications of coronavirus infection (platelet hemostasis disorders, heart rate variability and QT interval dispersion, which increase the risk of thromboembolic complications and fatal arrhythmias), it is promising to ...
V.Z. Netiazhenko, S.Ye. Mostovyi
doaj   +1 more source

Evaluation of platelet aggregation in splenectomized beta-thalassemia major and intermedia patients

Journal of Applied Hematology, 2018
BACKGROUND: Platelet dysfunction may be one of the pathophysiologic complications in beta-thalassemia patients. However, the results obtained from the platelet aggregation vary in different types of β-thalassemia and among patients.
Mahdi Zahedpanah, Azita Azarkeivan, Minoo Ahmadinejad, Mohamad R Tabatabaiee, Bashir Hajibeigi, Mahtab Maghsudlu   +5 more
doaj   +1 more source

ITGA2B/ITGB3‐Related Macrothrombocytopenia Associated With Gain‐of‐Function Mutations in ITGA2B or ITGB3 Genes

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, Han Yan, Zijian Li, Yilin Zhu, Ruonan Shao, Honglei Xin, Tongyu Jia, Mengyu Ge, Lu Zhang, Suyu Jiang, Jianhua Mao, Jiansong Huang, Chao Fang, Xiaodong Xi, Xiaofeng Shi   +14 more
wiley   +1 more source

A Case Report of Non‐Neutralizing Acquired Factor V Inhibitor Mimicking Deficiency: Diagnostic Challenges and Therapeutic Implications

Case Reports in Hematology, Volume 2026, Issue 1, 2026.
Acquired Factor V (FV) deficiency due to inhibitors is a rare coagulopathy that presents significant diagnostic and therapeutic challenges. We report the case of an 81‐year‐old male with persistent gross hematuria and severe coagulopathy, marked by prolonged prothrombin time (PT), activated partial thromboplastin time (aPTT), and critically low FV ...
Shreyas Kalantri, Pranali Pachika, Shiva Balasubramanian, Bayan Alquran, Morgan McCoy, Vivek Sharma, Andrew Song   +6 more
wiley   +1 more source

Enhanced Platelet Activity May Increase The Risk of Myocardial Infarction and Stroke in Patients with Chronic Myeloproliferative Neoplasms

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Background. Thrombotic complications may impact mortality and morbidity in chronic myeloproliferative neoplasms (MPNs) mainly polycythemia vera (PV) and essential thrombocythemia (ET).
Viola Maria Popov, Ana Maria Vladareanu, Adrian Tase, Horia Bumbea, Eugenia Kovacs, Camelia Dobrea, Mihaela Georgeta Moisescu, Tudor Savopol, Mihai Popescu   +8 more
doaj  

The Effect of Hyperparathyroid State on Platelet Functions and Bone Loss

Turkish Journal of Hematology, 2016
Objective: Coagulation and fibrinolysis defects were reported in primary hyperparathyroid patients. However, there are not enough data regarding platelet functions in this group of patients.
Göknur Yorulmaz, Aysen Akalın, Olga Meltem Akay, Garip Şahin, Cengiz Bal   +4 more
doaj   +1 more source

Drug-Free Platelets Can Act as Seeds for Aggregate Formation During Antiplatelet Therapy [PDF]

, 2015
The online-only Data Supplement is available with this article at http://atvb.ahajournals.org/lookup/suppl/doi:10.1161/ATVBAHA.115.306219/-/DC1.Medical Research Council, the British Heart Foundation (PG-12-68-29779), the Wellcome Trust (101604/Z/13/Z ...
Abrahamsen AF, Armstrong PC, Cattaneo M, Dassin E, Di Minno G, Ferguson JC, Jneid H, Scott JP   +7 more
core   +1 more source

Dental Management of Glanzmann's Thrombasthenia in a 4‐Year‐Old Child With Rampant Caries: A Case Report and Literature Review

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Glanzmann's Thrombasthenia (GT) is a rare congenital bleeding disorder in children, caused by the absence or dysfunction of glycoprotein (GP) IIb/IIIa, a receptor located on the platelet membrane. Proper oral health and regular dental appointments are crucial for these patients. However, maintaining good oral hygiene is challenging among them.
Bahareh Nazemisalman, Gisoo Bahmani, Kambiz Davari, Mobina Sadat Zarabadi   +3 more
wiley   +1 more source