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https://www.readbyqxmd.com/read/27920237/von-willebrand-disease-a-concise-review-and-update-for-the-practicing-physician
#1
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
#2
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
#3
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
#4
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
#5
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...
November 24, 2016: 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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27785858/a-prospective-diagnostic-accuracy-study-evaluating-rotational-thromboelastometry-and-thromboelastography-in-100-patients-with-von-willebrand-disease
#13
D E Schmidt, A Majeed, M Bruzelius, J Odeberg, M Holmström, A Ågren
INTRODUCTION: Rotational thromboelastometry (ROTEM(®) ) and thromboelastography (TEG(®) ) are increasingly used in the perioperative and emergency assessment of bleeding tendencies. The diagnostic value of ROTEM and TEG for von Willebrand disease (VWD) remains to be established. AIM: To investigate whether ROTEM and TEG can discriminate patients with VWD from healthy controls. METHODS: Rotational thromboelastometry and TEG whole blood coagulation profiles were compared between VWD patients (n = 100) and healthy controls (n = 89)...
October 26, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27783052/trans-stilbenes-in-commercial-grape-juices-quantification-using-hplc-approaches
#14
Julia López-Hernández, Ana Rodríguez-Bernaldo de Quirós
Trans-stilbenes belong to the group of polyphenolic phytoalexins, and occur in many plant foods. These compounds have received great attention by researchers due to their well-known beneficial health effects. In the present study a chromatographic method that comprises the use of variable wavelength (VWD) and fluorescence (FLD) detectors in series for the analysis of trans-stilbenes is presented. The relation of peak-area obtained with both detectors is proposed as an alternative and complementary approach for the rapid identification of these phenolic compounds...
October 24, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27780267/postpartum-hemorrhage-in-women-with-von-willebrand-disease-a-retrospective-observational-study
#15
Igor Govorov, Signe Löfgren, Roza Chaireti, Margareta Holmström, Katarina Bremme, Miriam Mints
INTRODUCTION: von Willebrand disease (VWD) is a hereditary bleeding disorder, caused by a deficiency in the levels and/or function of von Willebrand factor (VWF). Women with VWD appear to be at increased risk of experiencing postpartum hemorrhage (PPH), though the levels of VWF increase during pregnancy. There is limited knowledge of how PPH is associated with the subtype of VWD, plasma levels of other coagulations factors than VWF and given hemostatic treatment. AIMS: The aims were to investigate the incidence of PPH in women with VWD and to analyse the correlation between PPH and: (1) type of VWD, (2) laboratory monitoring of VWF and FVIII and (3) hemostatic drug treatment...
2016: PloS One
https://www.readbyqxmd.com/read/27778439/von-willebrand-factor-and-angiogenesis-basic-and-applied-issues
#16
Anna M Randi, Mike A Laffan
The recent discovery that von Willebrand factor (VWF) regulates blood vessel formation has opened a novel perspective on the function of this complex protein. VWF was discovered as a key component of haemostasis, capturing platelets at sites of endothelial damage and synthesized in megakaryocytes and endothelial cells (EC). In recent years, novel functions and binding partners have been identified for VWF. The finding that loss of VWF in EC results in enhanced, possibly dysfunctional angiogenesis is consistent with the clinical observations that in some patients with Von Willebrand disease (VWD), vascular malformations can cause severe gastrointestinal (GI) bleeding...
October 25, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27766062/de-novo-mutation-and-somatic-mosaicism-of-gene-mutation-in-type-2a-2b-and-2m-vwd
#17
Ming-Ching Shen, Ming Chen, Gwo-Chin Ma, Shun-Ping Chang, Ching-Yeh Lin, Bo-Do Lin, Han-Ni Hsieh
BACKGROUND: Von Willebrand disease (VWD) is not uncommon in Taiwan. In type 2 or type 3 VWD hemorrhagic symptoms are severer and laboratory data relatively more distinctive. De novo mutation and somatic mosaicism of type 2 VWD gene were rarely reported. Therefore clinical, laboratory and genetic studies of only type 2A, 2B and 2M VWD will be presented and issues of de novo mutation and somatic mosaicism will be explored. METHODS: Fifty-four patients belonging to 23 unrelated families from all around the country in whom type 2 VWD exclusive of type 2N has been diagnosed not only by clinical and routine laboratory studies but also by genetic confirmation during 1990-2015 were investigated...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27761577/monitoring-of-coagulation-factor-therapy-in-patients-with-von-willebrand-disease-type-3-using-a-microchip-flow-chamber-system
#18
Anna Ågren, Margareta Holmström, David E Schmidt, Kazuya Hosokawa, Margareta Blombäck, Paul Hjemdahl
Patients with type 3 von Willebrand disease (VWD-3) have no measurable levels of VW factor (VWF) and usually require treatment with VWF-FVIII concentrate to prevent and/or stop bleeding. Even though the patients are treated prophylactically, they may experience bleeding symptoms. The aim of this study was to evaluate the effect of VWF-FVIII concentrate treatment in VWD-3 patients with the Total Thrombus Analysis System (T-TAS(®)), which measures thrombus formation under flow conditions. Coagulation profiles of 10 VWD-3 patients were analysed using T-TAS before and 30 minutes after VWF-FVIII concentrate (Haemate(®)) injection...
October 20, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27761512/data-on-the-purification-and-crystallization-of-the-loss-of-function-von-willebrand-disease-variant-p-gly1324ser-of-the-von-willebrand-factor-a1-domain
#19
James C Campbell, Alexander Tischer, Venkata Machha, Laurie Moon-Tasson, Banumathi Sankaran, Choel Kim, Matthew Auton
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 receptor, GPIbα. The crystal structure of the A1 domain harboring the von Willebrand disease (vWD) type 2M mutation p.Gly1324Ser has been recently published in the Journal of Biological Chemistry describing its effect on the function and structural stability of the A1 domain of VWF, "Mutational constraints on local unfolding inhibit the rheological adaptation of von Willebrand factor" [1]...
June 2016: Data in Brief
https://www.readbyqxmd.com/read/27749315/von-willebrand-disease-in-sub-saharan-africa-a-first-severe-case-reported-in-cameroon
#20
Claude T Tagny, Pauline N Balôgôg, Francoise Boehlen, Dora Mbanya
In Cameroon, the Yaoundé Hemophilia Treatment Center (HTC) has so far recorded 121 cases of hemophilia and only 10 cases of von Willebrand disease (VWD). We report the case of a 16-year-old girl, living in the north of Cameroon. She presented with severe meno-metrorrhagia, which had increased drastically within the past 3 months, associated more recently by gum bleeding and epistaxis. The coagulation screen showed a prolonged bleeding time. The clinical profile of this young girl and the findings of less than 5% for von Willebrand factor (VWF):Ag and 10% for VWF Ristocetin cofactor suggests a type 3 VWD...
October 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
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