Results 71 to 80 of about 151,232 (337)

Frequency Assessment of the H817Q (2451T→A) Variant of von Willebrand Gene in Individuals without Hemorrhagic Signs [PDF]

Journal of Kerman University of Medical Sciences, 2016
Background and Aims:‎ Von Willebrand disease is a bleeding disorder caused by quantitative or functional defects in von Willebrand factor. The disease is found in up to 1 percent of the population.
Mansoureh Bakhtiari, Shirin Shahbazi, Mehrdad Hashemi   +2 more
doaj  

Pseudo (Platelet-type) von Willebrand disease in pregnancy: a case report

BMC Pregnancy and Childbirth, 2013
Background Pseudo (platelet-type)-von Willebrand disease is a rare autosomal dominant bleeding disorder caused by an abnormal function of the glycoprotein lb protein; the receptor for von Willebrand factor.
Grover Neetu, Boama Vincent, Chou Munazzah Rifat   +2 more
doaj   +1 more source

Experimental infection of horses with African horse sickness virus results in overt disseminated intravascular coagulation

Equine Veterinary Journal, EarlyView.
Abstract Background African horse sickness (AHS), caused by the vector‐borne African horse sickness virus (AHSV), is endemic to sub‐Saharan Africa and infection results in high mortality in naïve equine populations. Clinical signs include submucosal petechiae and prolonged bleeding post venepuncture indicative of hypocoagulation.
Eva Christina Schliewert, Amelia Goddard, Emma H. Hooijberg   +2 more
wiley   +1 more source

Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence

Haematologica, 2019
Patients with type 2B von Willebrand disease (vWD) (caused by gain-of-function mutations in the gene coding for von Willebrand factor) display bleeding to a variable extent and, in some cases, thrombocytopenia.
Annabelle Dupont, Christelle Soukaseum, Mathilde Cheptou, Frédéric Adam, Thomas Nipoti, Marc-Damien Lourenco-Rodrigues, Paulette Legendre, Valérie Proulle, Antoine Rauch, Charlotte Kawecki, Marijke Bryckaert, Jean-Philippe Rosa, Camille Paris, Catherine Ternisien, Pierre Boisseau, Jenny Goudemand, Delphine Borgel, Dominique Lasne, Pascal Maurice, Peter J. Lenting, Cécile V. Denis, Sophie Susen, Alexandre Kauskot   +22 more
doaj   +1 more source

Defining von Willebrand disease [PDF]

Blood, 2016
In this issue of Blood, Flood et al report on bleeding symptoms and laboratory analyses in 482 subjects diagnosed with type 1 von Willebrand disease (VWD) as part of the Zimmerman Program, a multicenter study of VWD.1 Their findings provide insight into the underlying DNA variants in VWD, and also raise questions about the diagnosis of VWD and of ...
openaire   +2 more sources

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS [PDF]

, 2021
Luciano Baronciani, I. R. Peake, Reinhard Schneppenheim, Anne Goodeve, Minoo Ahmadinejad, Zahra Badiee, Mohammad‐Reza Baghaipour, Olga Benítez, Imre Bodó, Ulrich Budde, Andrea Cairo, Giancarlo Castaman, Peyman Eshghi, Jenny Goudemand, Wolf Hassenpflug, Hamid Hoorfar, Mehran Karimi, Bijan Keikhaei, Riitta Lassila, Frank W.G. Leebeek, María Fernanda López Fernández, Pier Mannuccio Mannucci, Renato Marino, Nikolas Nikšić, Florian Oyen, Cristina Santoro, Andreas Tiede, Gholamreza Toogeh, Alberto Tosetto, Marc Trossaërt, Eva Zetterberg, Jeroen Eikenboom, Augusto B. Federici, Flora Peyvandi   +33 more
openalex   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Patient with von Willebrand Disease for Gynaecologic Surgery - Perianaesthetic Concerns

Indian Journal of Anaesthesia, 2008
We report a case of von Willebrand (vWD) disease and highlight the relevance of this condition to the perianaesthetic management.A 23-year-old female, known case of vWD diagnosed at 3 years of age, was posted for laparoscopic ovarian cystectomy.
Rakesh Garg, Mridu Paban Nath, Sanjay Verma, Ashwani Kumar   +3 more
doaj  

A Rare Case of Klippel Trenaunay Syndrome with Von Willebrand Factor Deficiency and Multiple Accessory Spleens: A Case Report and Brief Literature Review

Advanced Biomedical Research
Klippel Trenaunay Syndrome (KTS) is an uncommon inherited syndrome identified by venous varicosities and capillary abnormalities. von Willebrand Disease is the most common inherited hemorrhage disturbance in humans, leading to insufficiency in von ...
Vahid Falahati, Mahsa Fallahi, Mona Shahriarpour, Ali Ghasemi, Kazem Ghaffari   +4 more
doaj   +1 more source

Data on the purification and crystallization of the loss-of-function von Willebrand disease variant (p.Gly1324Ser) of the von Willebrand factor A1 domain

Data in Brief, 2016
von Willebrand factor׳s (VWF) primary hemostatic responsibility is to deposit platelets at sites of vascular injury to prevent bleeding. This function is mediated by the interaction between the VWF A1 domain and the constitutively active platelet ...
James C. Campbell, Alexander Tischer, Venkata Machha, Laurie Moon-Tasson, Banumathi Sankaran, Choel Kim, Matthew Auton   +6 more
doaj   +1 more source