Results 141 to 150 of about 61,670 (295)

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments

Haemophilia, EarlyView.
ABSTRACT Rare bleeding disorders (RBDs) represent a diverse group of inherited conditions involving coagulation factors or platelets. These conditions, such as Glanzmann thrombasthenia (GT) or severe coagulation factor deficiencies, are uncommon. In contrast, bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion without an identifiable ...
Alessandro Casini, Robert Klamroth, Bauke Haisma, Dino Mehic, Saskia E. M. Schols   +4 more
wiley   +1 more source

The XX Factor in Hemophilia: Diagnostic, Therapeutic, and Research Gaps for Women and Girls

Haemophilia, EarlyView.
ABSTRACT Introduction Hemophilia has traditionally been viewed as an X‐linked disorder affecting men and boys, with women and girls labeled as “carriers”, presumed to be clinically unaffected. This paradigm has contributed to under‐recognition, delayed diagnosis, and undertreatment of females with hemophilia‐associated genotypes despite an increasingly
Kelsey Uminski, Ellen Cusano
wiley   +1 more source

Perioperative von Willebrand Factor and Factor VIII Kinetics in von Willebrand Disease Patients Treated With Different Clotting Factor Concentrates

Haemophilia, EarlyView.
ABSTRACT Introduction Patients with von Willebrand disease (VWD) undergoing surgery require von Willebrand factor (VWF) and factor VIII (FVIII) supplementation for adequate haemostasis. Plasma‐derived clotting factor concentrates differ in their VWF:FVIII activity ratios: high‐ratio product (HRP, 10:1), intermediate‐ratio product (IRP, 2.4:1), and low ...
Zoë A. Gras, Geoffrey Z. L. Kuppens, Roger E. G. Schutgens   +2 more
wiley   +1 more source

DDAVP Challenges in 170 Children With von Willebrand Disease: Response Classification Varies According to Criteria Used

Haemophilia, EarlyView.
ABSTRACT Introduction Individuals diagnosed with types 1/1C/2A/2M von Willebrand disease (VWD) typically undergo a desmopressin (DDAVP) challenge to assess therapeutic benefit. This involves measuring von Willebrand factor antigen (VWF:Ag), activity (VWF:Act; VWF:RCo/VWF:GPIbM/VWF:Ab), and coagulant factor VIII (FVIII:C) levels 0 (pre), 1, and 4‐h post‐
Michael Shu, Caroline Malcolmson, Amanda Fregonas, Tristan E. Knight, Margaret L. Rand, Cindy Wakefield, Vanessa Bouskill, Manuel Carcao   +7 more
wiley   +1 more source

Acute Hemorrhagic Manifestations in a Pregnant Patient With Type 1 von Willebrand Disease: Challenges in Management of Bleeding Disorders During Gestation [PDF]

Clin Case Rep
ABSTRACT This case reports a primigravida with Type 1 von Willebrand disease experiencing hematuria and gingival bleeding despite prophylaxis. Although pregnancy raises factor levels, her response was insufficient. Desmopressin successfully controlled mucosal hemorrhage, avoiding antifibrinolytics due to obstructive risk.
Rojas‐Oviedo J, Walteros M, Pérez D, Corredor J, Sánchez D, Ramírez A.   +5 more
europepmc   +2 more sources

Underdiagnosis of Von Willebrand Disease: The Silent Majority of Women in Brazil

Haemophilia, EarlyView.
Abstract Introduction Von Willebrand disease (VWD) is the most common inherited bleeding disorder. Although autosomal inheritance predicts a similar distribution between sexes, women are more often diagnosed due to hemostatic challenges associated with menstruation and childbirth.
Yara Maria da Silva Pires, Gabriel Iamassaki Staquicini de Paula, Thyago César da Silva Pires   +2 more
wiley   +1 more source

Global Diagnostics of Hemophilia and Bleeding Disorders: Insights From World Federation of Hemophilia International External Quality Assessment Scheme Program 2016–2023

Haemophilia, EarlyView.
ABSTRACT Introduction Accurate laboratory diagnosis is essential for the effective management of bleeding disorders. The World Federation of Hemophilia (WFH) International External Quality Assessment Scheme (IEQAS) provides an international platform for comparative evaluation of laboratory performance.
Silmara de Lima Montalvão, Ian Jennings, Dianne P. Kitchen, Christopher Reilly‐Stitt, Glenn F. Pierce, Andreina Tovar, Jayson Martin, Assad Haffar, Steve Kitchen   +8 more
wiley   +1 more source

Risk of Postpartum Hemorrhage in Women With Von Willebrand Disease: A Real‐World Data Analysis

Haemophilia, EarlyView.
ABSTRACT Introduction Women with von Willebrand disease (VWD) are at increased risk for postpartum hemorrhage (PPH), but contemporary United States data on maternal outcomes and real‐world peripartum treatment patterns are limited. Aim To evaluate maternal outcomes associated with claims‐recorded VWD in a national claims cohort and describe exploratory
Mayank Patel, Victor Zibara, Craig Seaman, Sruti Shiva, Nicoletta C. Machin   +4 more
wiley   +1 more source

100 Years of von Willebrand Disease (VWD): Comparison of Historical and Contemporary von Willebrand Factor (VWF) Activity Assays in the Laboratory Identification of VWD

Haemophilia, EarlyView.
Abstract Introduction von Willebrand disease (VWD) is a prevalent bleeding disorder resulting from deficiencies and/or defects in von Willebrand factor (VWF). Accurately diagnosing VWD, particularly distinguishing between qualitative defects (types 2A, 2B, 2 M, and 2N) and quantitative defects (types 1 and 3), poses challenges that have significant ...
Emmanuel J. Favaloro, Sandya Arunachalam, Mahzuza Salwa, Ronny Vong, Leonardo Pasalic   +4 more
wiley   +1 more source