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https://www.readbyqxmd.com/read/28091443/molecular-characterization-of-exon-28-of-von-willebrand-s-factor-gene-in-nigerian-population
#1
E D Ezigbo, E O Ukaejiofo, T U Nwagha
BACKGROUND: Polymorphisms in von Willebrand factor (VWF) gene are an important contributor to the expression of VWF gene and differences in ethnic distribution of these single nucleotide polymorphisms (SNPs) exists. AIMS: Our objective was to molecularly characterize the exon 28 of the VWF gene in the three major ethnic groups of Nigeria. SUBJECTS AND METHODS: We recruited 90 subjects, 45 had a history of bleeding. Questions included those used in the Zimmerman Program for the Molecular and Clinical Biology of von Willebrand disease (VWD), and the bleeding scores were calculated using the Molecular and Clinical Markers for the Diagnosis and Management of type 1 VWD scoring system...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28076816/mutation-g1629e-increases-von-willebrand-factor-cleavage-via-a-cooperative-destabilization-mechanism
#2
Camilo Aponte-Santamaría, Svenja Lippok, Judith J Mittag, Tobias Obser, Reinhard Schneppenheim, Carsten Baldauf, Frauke Gräter, Ulrich Budde, Joachim O Rädler
The large multimeric glycoprotein von Willebrand Factor (VWF) plays a pivotal adhesive role during primary hemostasis. VWF is cleaved by the protease ADAMTS13 as a down-regulatory mechanism to prevent excessive VWF-mediated platelet aggregation. For each VWF monomer, the ADAMTS13 cleavage site is located deeply buried inside the VWF A2 domain. External forces in vivo or denaturants in vitro trigger the unfolding of this domain, thereby leaving the cleavage site solvent-exposed and ready for cleavage. Mutations in the VWF A2 domain, facilitating the cleavage process, cause a distinct form of von Willebrand disease (VWD), VWD type 2A...
January 10, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28060749/nido-amop-and-vwd-domains-of-muc4-play-synergic-role-in-muc4-mediated-signaling
#3
Yi Zhu, Jing-Jing Zhang, Yun-Peng Peng, Xian Liu, Kun-Ling Xie, Jie Tang, Kui-Rong Jiang, Wen-Tao Gao, Lei Tian, Kai Zhang, Ze-Kuan Xu, Yi Miao
MUC4 mucin is well known as an important potential target to overcome pancreatic cancer. Three unique domains (NIDO, AMOP, and vWD) with unclear roles only present in MUC4 but are not found in other membrane-bound mucins. Our previous studies first reported that its splice variant, MUC4/Y can be a model of MUC4 (MUC4 gene fragment is more than 30KB, too huge to clone and eukaryotic express) in pancreatic cancer. More importantly, based on MUC4/Y with the appropriate length of gene sequence, it is easy to construct the unique domain-lacking models of MUC4/Y (MUC4) for research...
January 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28026130/efficacy-and-safety-of-a-vwf-fviii-concentrate-wilate-%C3%A2-in-inherited-von-willebrand-disease-patients-undergoing-surgical-procedures
#4
A Srivastava, M Serban, S Werner, B A Schwartz, C M Kessler
INTRODUCTION: Surgical procedures in von Willebrand disease (VWD) patients may require prophylactic treatment with exogenous von Willebrand factor (VWF) and coagulation factor VIII (FVIII) to prevent excessive bleeding. Wilate(®) is a plasma-derived, double virus-inactivated, highly purified, freeze-dried VWF/FVIII concentrate, containing both factors in a physiological activity ratio of 1:1. AIM: To investigate the efficacy and safety of wilate(®) in maintaining haemostasis in VWD patients undergoing surgical procedures...
December 27, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28004055/thrombocytopathy-leading-to-impaired-in-vivo-haemostasis-and-thrombosis-in-platelet-type-von-willebrand-disease
#5
Harmanpreet Kaur, Kathryn Corscadden, Jerry Ware, Maha Othman
Platelet defects due to hyper-responsive GPIbα causing enhanced VWF interaction, counter-intuitively result in bleeding rather than thrombosis. The historical explanation of platelet/VWF clearance fails to explain mechanisms of impaired haemostasis particularly in light of reported poor platelet binding to fibrinogen. This study aimed to evaluate the defects of platelets with hyper-responsive GPIbα and their contribution to impaired in vivo thrombosis. Using the PT-VWD mouse model, platelets from the hTg(G233V) were compared to control hTg(WT) mice...
December 22, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27978590/laboratory-testing-for-von-willebrand-disease-the-past-present-and-future-state-of-play-for-von-willebrand-factor-assays-that-measure-platelet-binding-activity-with-or-without-ristocetin
#6
Sarah Just
von Willebrand disease (VWD) was first described nearly a century ago in 1924 by Erik Adolf von Willebrand. Diagnostic testing at the time was very limited and it was not until the mid to late 1900s that more tests became available to assist with the diagnosis and classification of VWD. Two of these tests are based on ristocetin, one being ristocetin-induced platelet aggregation (RIPA) and the other the von Willebrand factor (VWF) ristocetin cofactor assay (VWF:RCo). The VWF:RCo assay provides functional assessment of in vitro VWF binding to the platelet glycoprotein (Gp) complex, GPIb-IX-V...
December 15, 2016: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/27976460/interventional-therapies-and-in-hospital-outcomes-in-acute-coronary-syndromes-complicated-by-von-willebrand-disease
#7
P F Fogarty, A Blair, R Vega, W H Matthai, P A Gimotty
INTRODUCTION: von Willebrand disease (VWD) is one of the most common inherited bleeding disorders. AIM: Investigate the impact of the VWD bleeding tendency on in-hospital management of acute coronary syndromes (ACS). METHODS: Using discharge data from the National Inpatient Sample (NIS), the features of presentation and in-hospital treatment among ACS hospital discharges with and without a VWD diagnosis were investigated. A total of 264 case discharges and 705 860 control discharges were identified...
December 14, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27935090/clinical-utility-of-closure-times-using-the-platelet-function-analyzer-pfa-100-200
#8
Emmanuel J Favaloro
The 'platelet function analyzer' (PFA)-100 was first introduced to us in 1995. Since then, the instrument has appeared in over 50 reviews and almost 1000 publications. Recently, the PFA-100 has been 'upgraded' to the PFA-200, which has transformed the user interface and electronic management, but retained the fundamental mechanics, and essentially provides the same results. The PFA-100/200 has conceivable clinical utility to screen for von Willebrand Disease (VWD) and platelet disorders, and in monitoring desmopressin (DDAVP) therapy in both, and possibly anti-platelet therapy...
December 9, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27920237/von-willebrand-disease-a-concise-review-and-update-for-the-practicing-physician
#9
Arjun Swami, Varinder Kaur
von Willebrand disease (vWD) is the most common inherited disorder of hemostasis and comprises a spectrum of heterogeneous subtypes. Significant advances have been made in understanding von Willebrand factor (vWF) gene mutations, resultant physiologic deficits in the vWF peptide, and their correlation to clinical presentation. Diagnostic tests for this disorder are complex, and interpretation requires a thorough understanding of the underlying pathophysiology by the practicing physician. The objective of this review is to summarize our current understanding of pathophysiology, laboratory investigations, and evolving treatment paradigm of vWD with the availability of recombinant von Willebrand factor...
December 5, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27913547/new-treatment-approaches-to-von-willebrand-disease
#10
Michelle Lavin, James S O'Donnell
von Willebrand disease (VWD) is the commonest inherited bleeding disorder and results from either a quantitative or qualitative deficiency in the plasma glycoprotein von Willebrand factor (VWF). Recent large cohort studies have significantly enhanced our understanding of the molecular mechanisms involved in the pathogenesis of VWD. In contrast, however, there have been relatively few advances in the therapeutic options available for the treatment of bleeding in patients with VWD. Established treatment options include tranexamic acid, 1-deamino-8-d-arginine vasopressin (DDAVP), and plasma-derived VWF concentrates...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913546/diagnosing-von-willebrand-disease-genetic-analysis
#11
Anne Goodeve
Investigation of a patient with possible von Willebrand disease (VWD) includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient's disorder, and for this group, genetic analysis can aid diagnosis of disease type. Polymerase chain reaction and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next-generation sequencing has become available, with the advantage that several genes can be simultaneously analyzed where necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913545/what-have-we-learned-from-large-population-studies-of-von-willebrand-disease
#12
Robert R Montgomery, Veronica H Flood
Von Willebrand factor (VWF) is a critical regulator of hemostatic processes, including collagen binding, platelet adhesion, and platelet aggregation. It also serves as a carrier protein to normalize plasma factor VIII synthesis, release, and survival. While VWF protein measurements by immunoassay are reasonably comparable between institutions, the measurement of VWF ristocetin cofactor activity (VWF:RCo) has significant variability. Other tests of VWF function, including collagen binding or platelet glycoprotein IIb-IIIa binding, are not universally available, yet these functional defects may cause major bleeding even with normal VWF antigen (VWF:Ag) and VWF:RCo assays...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27889474/the-von-willebrand-factor-a1-collagen-iii-interaction-is-independent-of-conformation-and-type-2-von-willebrand-disease-phenotype
#13
Venkata R Machha, Alexander Tischer, Laurie Moon-Tasson, Matthew Auton
The blood von Willebrand factor (VWF) mediates platelet adhesion to injured vessels by sequestering platelets from blood flow and depositing them to collagen and other exposed subendothelial matrix proteins. This process of capturing platelets to facilitate formation of platelet plugs occurs through transient interactions with platelet glycoprotein Ibα via the VWF A1 domain which also binds collagen. Using a conformationally diverse collection of natively folded and mutation-induced misfolded von Willebrand disease (VWD) variants, we test a recently proposed affinity up-regulation hypothesis which states that collagen binding changes the conformation of the A1 domain to a high-affinity GPIbα binding competent state...
January 6, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/27885890/use-of-a-thrombopoietin-receptor-agonist-in-von-willebrand-disease-type-2b-p-v1316m-with-severe-thrombocytopenia-and-intracranial-hemorrhage
#14
O Espitia, C Ternisien, C Agard, P Boisseau, C V Denis, M Fouassier
We present here a 63-year old woman with a long history of immune thrombocytopenia. She was hospitalized for a traumatic intracranial hemorrhage with thrombocytopenia. Following inefficient treatment of four platelet transfusions, immunoglobulins, and corticosteroids, we initiated treatment with a thrombopoietin (TPO) receptor agonist (eltrombopag 25 mg/d) with a good efficacy. Her mother and sister also had chronic thrombocytopenia. Clinical history, hemostasis results, and gene analysis revealed von Willebrand disease (VWD) type 2B with the mutation (c...
November 25, 2016: Platelets
https://www.readbyqxmd.com/read/27872729/mild-bleeders-diagnosis-is-elusive-in-large-number-of-patients
#15
Mrinalini Kotru, Deepti Mutereja, Abhishek Purohit, Seema Tyagi, Manoranjan Mahapatra, Renu Saxena, Hara Prasad Pati
BACKGROUND: Bleeding is a common clinical presentation. Even patients with mild bleeding disorders are extensively investigated for ascertaining the cause. The present study was conducted in order to evaluate the extent of the possibility of diagnosis in mild bleeding disorders. MATERIAL AND METHODS: This was a prospective study of patients referred for work up of mild bleeding for a period of 13 months. A complete blood count, peripheral smear examination, Prothrombin time, Partial Thromboplastin time and Thrombin Time, Platelet Aggregometry test, tests for von Willebrand's disease and Platelet Factor 3 availability were measured...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27868369/evaluation-of-the-utility-of-the-isth-bat-in-haemophilia-carriers-a-multinational-study
#16
P D James, J Mahlangu, C Bidlingmaier, M E Mingot-Castellano, M Chitlur, P F Fogarty, A Cuker, M E Mancuso, P A Holme, J Grabell, N Satkunam, W M Hopman, P Mathew
INTRODUCTION: There has been increasing recognition in recent years that female carriers of haemophilia manifest abnormal bleeding; however, data on the use of bleeding assessment tools in this population are lacking. AIM: Our objective was to validate the ISTH-BAT in haemophilia carriers to describe bleeding symptoms and allow for comparisons with factor levels and other patient groups. METHODS: This was a prospective, observational, cross-sectional study performed by members of Global Emerging HEmostasis Panel (GEHEP)...
November 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27819553/pt-vwd-posing-diagnostic-and-therapeutic-challenges-small-case-series
#17
Analía Sánchez-Luceros, Adriana I Woods, Emilse Bermejo, Shilpa Shukla, Suchitra Acharya, Michelle Lavin, Natalia Rydz, Maha Othman
Despite the increased worldwide awareness, over the last decade, of the platelet-type von Willebrand Disease (PT-VWD), many uncertainties remain around this rare platelet bleeding disorder. This report aims to correctly identify and study the phenotype of new patients and highlights the diagnostic and therapeutic challenges this disease remains to pose. We describe four PT-VWD cases confirmed by genetic analysis in which either the diagnosis and/or the treatment posed challenge. We provide the details of the clinical presentation, laboratory analysis, and the treatment and the responses in each case...
November 7, 2016: Platelets
https://www.readbyqxmd.com/read/27795521/von-willebrand-factor-and-von-willebrand-disease
#18
Taei Matsui, Jiharu Hamako
von Willebrand factor (VWF) has two major roles in hemostasis, as a form of molecular glue which functions in platelet plug formation and as a protective transporter for coagulation factor VIII (FVIII). VWF shows a multimeric chain structure composed of 270 kDa subunits containing binding domains for FVIII, platelet and collagens. Biosynthesis, storage, secretion of VWF and the cleavage process by ADAMTS13 (a disintegrin-like and metalloproteinase with thrombospondin type 1 repeats 13) regulating VWF activity have been elucidated...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27789437/silent-disruption-aberrant-splicing-in-vwd
#19
Jill M Johnsen
No abstract text is available yet for this article.
October 27, 2016: Blood
https://www.readbyqxmd.com/read/27785872/von-willebrand-disease-type-1-mutation-p-arg1379cys-and-the-variant-p-ala1377val-synergistically-determine-a-2m-phenotype-in-four-italian-patients
#20
M T Pagliari, L Baronciani, F Stufano, I Garcia-Oya, G Cozzi, F Franchi, F Peyvandi
INTRODUCTION: We characterized five patients affected with von Willebrand disease (VWD) carrying the p.Arg1379Cys mutation. One was diagnosed as VWD type 1 and four as type 2M. The 2M patients also have the variant p.Ala1377Val in cis with p.Arg1379Cys. AIM: To evaluate the role of p.Ala1377Val and p.Arg1379Cys von Willebrand factor (VWF) variants to explain patients' phenotype. METHODS: Conventional phenotype tests were used to evaluate patients' plasma and platelets...
November 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
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