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Von willebrands disease

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https://www.readbyqxmd.com/read/28076816/mutation-g1629e-increases-von-willebrand-factor-cleavage-via-a-cooperative-destabilization-mechanism
#1
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/28062498/novel-thrombotic-function-of-a-human-snp-in-stxbp5-revealed-by-crispr-cas9-gene-editing-in-mice
#2
Qiuyu Martin Zhu, Kyung Ae Ko, Sara Ture, Michael A Mastrangelo, Ming-Huei Chen, Andrew D Johnson, Christopher J O'Donnell, Craig N Morrell, Joseph M Miano, Charles J Lowenstein
OBJECTIVE: To identify and characterize the effect of a SNP (single-nucleotide polymorphism) in the STXBP5 locus that is associated with altered thrombosis in humans. GWASs (genome-wide association studies) have identified numerous SNPs associated with human thrombotic phenotypes, but determining the functional significance of an individual candidate SNP can be challenging, particularly when in vivo modeling is required. Recent GWAS led to the discovery of STXBP5 as a regulator of platelet secretion in humans...
December 29, 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28060120/type-2b-von-willebrand-disease-an-unusual-cause-of-severe-neonatal-thrombocytopenia
#3
Seth J Rotz, Joseph S Palumbo, Russell E Ware
An infant with presumed maternal immune thrombocytopenic purpura had persistent thrombocytopenia with platelet clumping. The patient had no significant bleeding symptoms in the first year of life and von Willebrand antigen and ristocetin cofactor activity were normal. Absent high molecular weight multimers ultimately led to a genetically proven diagnosis of type 2B von Willebrand disease (3964G>A VWF exon 28), highlighting the challenges of establishing this diagnosis in infants.
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28029003/effect-of-vitamin-d-status-on-von-willebrand-factor-and-adamts13-in-diabetic-patients-on-chronic-hemodialysis
#4
Keren Cohen-Hagai, Gloria Rashid, Yael Einbinder, Meital Ohana, Sydney Benchetrit, Tali Zitman-Gal
Von Willebrand factor (vWF) is a glycoprotein with a crucial role in the formation of platelet thrombi, and ADAMTS13 is the main enzyme responsible for vWF cleavage. Both are important in the relationship between diabetic nephropathy, hypercoagulability, and cardiovascular disease. This study evaluated a potential relationship between vitamin D (vitD) levels, vWF, ADAMTS13 activity, and inflammation in diabetic patients on chronic hemodialysis (HD). Blood samples from 52 diabetic patients on chronic HD were obtained to determine vitD levels, vWF, and ADAMTS13 activity, and inflammatory markers...
March 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28028990/acquired-von-willebrand-syndrome
#5
REVIEW
Andrzej Mital
Acquired von Willebrand syndrome is a rare hemorrhagic diathesis, with clinical symptoms similar to those associated with the inherited form von Willebrand disease. This syndrome is characterized by a lack of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Most commonly, acquired von Willebrand syndrome develops in the course of other conditions, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders; additionally, it can be associated with some non-hematological malignancies and use of certain prescription drugs...
November 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
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
#6
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/28017358/differentiation-of-mesenchymal-stem-cells-from-human-amniotic-fluid-to-vascular-endothelial-cells
#7
Waleephan Tancharoen, Sirinda Aungsuchawan, Peraphan Pothacharoen, Runchana Markmee, Suteera Narakornsak, Junjira Kieodee, Nonglak Boonma, Witoon Tasuya
Endothelial dysfunction is a principle feature of vascular-related disease. Endothelial cells have been acquired for the purposes of the restoration of damaged tissue in therapeutic angiogenesis. However, their use is limited by expansion capacity and the small amount of cells that are obtained. Human amniotic fluid mesenchymal stem cells (hAF-MSCs) are considered an important source for vascular tissue engineering. In this study, hAF-MSCs were characterized and then induced in order to differentiate into the endothelial-like cells...
December 22, 2016: Acta Histochemica
https://www.readbyqxmd.com/read/28005949/netosis-before-and-after-hyperglycemic-control-in-type-2-diabetes-mellitus-patients
#8
Agostina Carestia, Gustavo Frechtel, Gloria Cerrone, María A Linari, Claudio D Gonzalez, Patricia Casais, Mirta Schattner
INTRODUCTION AND OBJECTIVE: Diabetes is characterized by chronic inflammation, endothelial dysfunction, increased risk of infections and early cardiovascular disease. By releasing neutrophil extracellular traps (NETs), neutrophils kill bacteria and exert pro-inflammatory and pro-thrombotic activities. Increased NETosis has been found in cross-sectional studies including treated type 2 diabetes mellitus (T2DM) patients. In this study, we determined whether the ability of neutrophils to form NETs differs in diabetic patients pre- and post-hyperglycemic control versus healthy donors (HD), and the relationship between NETosis with pro-thrombotic, pro-inflammatory biomarkers and thrombotic clinical events...
2016: PloS One
https://www.readbyqxmd.com/read/28004055/thrombocytopathy-leading-to-impaired-in-vivo-haemostasis-and-thrombosis-in-platelet-type-von-willebrand-disease
#9
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/27994598/matrix-metalloproteinase-neutrophil-gelatinase-associated-lipocalin-complex-predicts-atrial-fibrillation-recurrence-after-electrical-cardioversion-in-obese-patients
#10
Elzbieta Mlodawska, Anna Tomaszuk-Kazberuk, Paulina Lopatowska, Ewa Waszkiewicz, Hanna Bachorzewska-Gajewska, Jolanta Malyszko, Ewelina Michniewicz, Slawomir Dobrzycki, Wlodzimierz Jerzy Musial
BACKGROUND: There is not much data on matrix metalloproteinase neutrophil gelatinase-associated lipocalin (MMP-NGAL) complex in patients with atrial fibrillation (AF). AIM: The aim of the study was to assess the value of MMP-NGAL complex in predicting AF recurrence after electrical cardioversion. METHODS: The serum levels of NGAL, cystatin C, interleukin-6, high-sensitivity C-reactive protein, copeptin, MMP-NGAL complex, matrix metalloproteinase 2, tissue inhibitor of metalloproteinase 1, Von Willebrand factor, B-type natriuretic peptide and the urinary level of NGAL were evaluated before cardioversion...
November 2016: Cardiorenal Medicine
https://www.readbyqxmd.com/read/27991718/polycythemia-vera-and-essential-thrombocythemia-2017-update-on-diagnosis-risk-stratification-and-management
#11
Ayalew Tefferi, Tiziano Barbui
DISEASE OVERVIEW: Polycythemia Vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms respectively characterized by erythrocytosis and thrombocytosis; other disease features include leukocytosis, splenomegaly, thrombosis, bleeding, microcirculatory symptoms, pruritus, and risk of leukemic or fibrotic transformation. DIAGNOSIS: PV is defined by a JAK2 mutation, whose absence, combined with normal or increased serum erythropoietin level, makes the diagnosis unlikely...
January 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/27978591/phenotypic-parameters-in-genotypically-selected-type-2b-von-willebrand-disease-patients-a-large-single-center-experience-including-a-new-novel-mutation
#12
Adriana Ines Woods, Ana Catalina Kempfer, Juvenal Paiva, Analia Sanchez-Luceros, Emilse Bermejo, Roberto Chuit, Maria Fabiana Alberto, Alicia Noemi Blanco, Maria Angela Lazzari
von Willebrand disease type 2B (VWD2B) expresses gain-of-function mutations that enhance binding of an individual's von Willebrand factor (VWF) to its platelet ligand, glycoprotein Ib (GPIb), and which are usually identified by increased ristocetin-induced platelet aggregation (RIPA). We describe here the phenotypic profile of 38 genotypically selected VWD2B-affected family members (AFMs) belonging to 19 unrelated families. Major bleeding was observed in 68.4% of AFMs (previous to their diagnosis and registered by lifetime interviews), with a total of 46 episodes (1...
December 15, 2016: Seminars in Thrombosis and Hemostasis
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
#13
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
#14
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/27971727/cost-effectiveness-analysis-of-using-factor-vii-von-willebrand-factor-in-treatment-of-patients-with-von-willebrand-disease
#15
M E Romero Prada, M Carrasquilla-Sotomayor, N J Alvis-Zakzuk, J S Alvis-Zakzuk, F Gomez de la Rosa, J Zakzuk-Sierra, L M Huerfano
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27959741/von-willebrand-s-disease
#16
REVIEW
Frank W G Leebeek, Jeroen C J Eikenboom
No abstract text is available yet for this article.
November 24, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27941341/sulodexide-reduces-the-proinflammatory-effect-of-serum-from-patients-with-peripheral-artery-disease-in-human-arterial-endothelial-cells
#17
Patrycja Sosińska, Ewa Baum, Beata Maćkowiak, Magdalena Maj, Katarzyna Sumińska-Jasińska, Ryszard Staniszewski, Andrzej Bręborowicz
BACKGROUND/AIMS: Dysfunction of the arterial endothelial cells promotes the progression of atherosclerosis. We studied how exposure of human arterial endothelial cells to atherosclerotic serum from patients with peripheral artery disease changes the secretory activity of these cells, and whether that reaction is modified by sulodexide. METHODS: Endothelial cells in in vitro culture were exposed to standard culture medium ± 100pg/mL Interleukin-1(IL-1) or to medium supplemented with 20% atherosclerotic serum...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27935090/clinical-utility-of-closure-times-using-the-platelet-function-analyzer-pfa-100-200
#18
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/27932330/von-willebrand-disease-type-2b
#19
Eric McGinnis, Suzanne M Vercauteren
No abstract text is available yet for this article.
December 8, 2016: Blood
https://www.readbyqxmd.com/read/27920237/von-willebrand-disease-a-concise-review-and-update-for-the-practicing-physician
#20
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
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