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Von willebrands disease

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
Sibel Hacioglu, Aysun Karabulut, Ismail Sari, Ali Keskin
The aim of this study was to determine the frequency of haemostatic abnormalities in women with menorrhagia and to evaluate their effect on quality of life (QoL). The study population was composed of patients with menorrhagia seen in the outpatient clinic, having a score of >185 with a pictorial blood assessment chart. Structured questionnaires were used in the assessment of demographic characteristics and QoL, and patients were tested for bleeding disorders. Ninety women were recruited for the study. Bleeding disorders were detected in 40% of them: 11...
October 20, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
I Mancini, I Ricaño-Ponce, E Pappalardo, A Cairo, M M Gorski, G Casoli, B Ferrari, M Alberti, D Mikovic, M Noris, C Wijmenga, F Peyvandi
BACKGROUND: Acquired thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening thrombotic microangiopathy associated with the development of autoantibodies against the von Willebrand factor cleaving protease, ADAMTS13. Similarly to other autoimmune disorders, evidences of a genetic contribution have been reported, including the association of the human leukocyte antigen (HLA) class II complex with disease risk OBJECTIVE: To identify novel genetic risk factors in acquired TTP...
October 20, 2016: Journal of Thrombosis and Haemostasis: JTH
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
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
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
Bo Gao, Wang Sun, Xianzhi Meng, Dongbo Xue, Weihui Zhang
Hematological abnormalities are frequently observed in patients with liver cirrhosis (LC). A previous study demonstrated that the apoptosis and damage of endothelial cells could cause the hematological abnormalities in LC. Protein kinases are one of the most important factors that regulate cell behavior, and are potential therapeutic targets for the treatment of a number of diseases. In a previous study, whole genome profiling was used to identify differentially expressed genes in human bone marrow endothelial cells treated with serum from 26 patients with LC...
October 12, 2016: Molecular Medicine Reports
Omer Akyol, Sumeyya Akyol, Chu-Huang Chen
Endothelial cells (EC) respond to injury by releasing numerous factors, including von Willebrand factor (VWF). High circulating levels of unusually large VWF multimers (UL-VWFM) have strong procoagulant activity and facilitate platelet adhesion and aggregation by interacting with platelets after an acute event superimposed on peripheral arterial disease and coronary artery disease. ADAMTS13-a disintegrin-like metalloproteinase with thrombospondin motif type 1 member 13-regulates a key physiological process of coagulation in the circulation by cleaving VWF multimers into small, inactive fragments...
October 13, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Adam Ralph, Martin Somers, Jonathan Cowman, Bruno Voisin, Emma Hogan, Hannah Dunne, Eimear Dunne, Barry Byrne, Nigel Kent, Antonio J Ricco, Dermot Kenny, Simon Wong
The imaging of shear-mediated dynamic platelet behavior interacting with surface-immobilized von Willebrand factor (vWF) has tremendous potential in characterizing changes in platelet function for clinical diagnostics purposes. However, the imaging output, a series of images representing platelets adhering and rolling on the surface, poses unique, non-trivial challenges for software algorithms that reconstruct the positional trajectories of platelets. We report on an algorithm that tracks platelets using the output of such flow run experiments, taking into account common artifacts encountered by previously-published methods, and we derive seven key metrics of platelet dynamics that can be used to characterize platelet function...
October 14, 2016: Cardiovascular Engineering and Technology
Michelle A H Sonneveld, Oscar H Franco, M Arfan Ikram, Albert Hofman, Maryam Kavousi, Moniek P M de Maat, Frank W G Leebeek
OBJECTIVE: Von Willebrand Factor (VWF) is a plasma protein that plays a major role in platelet adhesion and aggregation. Large VWF multimers are cleaved into smaller, less coagulant forms by the metalloprotease ADAMTS13 (A Disintegrin And Metalloprotease with ThromboSpondin motif repeats 13). Previous studies have shown that high VWF and low ADAMTS13 levels are associated with cardiovascular disease, but whether these factors are associated with mortality is unclear. Our aim is to establish the association between VWF antigen (VWF:Ag) levels, ADAMTS13 activity, and mortality...
October 13, 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
Fang Liu, Anni Tan, Renhao Yang, Yingzi Xue, Ming Zhang, Lei Chen, Luanjuan Xiao, Xuesong Yang, Yanhong Yu
C1ql-like (C1QL)-1 and -4 proteins are encoded by homologous genes that are highly expressed in brain and adipose tissues. However, functional properties of C1QL proteins outside of the brain and adipocytes remain unknown. Here, we report that the globular domain of C1ql1/Ctrp14 and C1ql4/Ctrp11 proteins directly stimulate the angiogenesis of endothelial cells. In this study, soluble C1ql1/CTRP14 and C1ql4/Ctrp11 proteins, produced in prokaryote expression system, are co-cultured with human umbilical vein endothelium cells (HUVECs), which phenotype is identified with von Willebrand factor antibody...
October 13, 2016: Molecular and Cellular Biochemistry
Jose Maria Bastida Bermeja, Jose Ramon González-Porras, Cristina Jiménez, Rocio Benito, Gonzalo R Ordoñez, Maria Teresa Álvarez-Román, M Elena Fontecha, Kamila Janusz, David Castillo, Rosa María Fisac, Luis Javier García-Frade, Carlos Aguilar, María Paz Martínez, Nuria Bermejo, Sonia Herrero, Ana Balanzategui, Jose Manuel Martin-Antorán, Rafael Ramos, Maria Jose Cebeiro, Emilia Pardal, Carmen Aguilera, Belen Pérez-Gutierrez, Manuel Prieto, Susana Riesco, Maria Carmen Mendoza, Ana Benito, Ana Hortal Benito-Sendin, Víctor Jiménez-Yuste, Jesus Maria Hernández-Rivas, Ramon García-Sanz, Marcos González-Díaz, Maria Eugenia Sarasquete
Currently, molecular diagnosis of haemophilia A and B (HA and HB) highlights the excess risk-inhibitor development associated with specific mutations, and enables carrier testing of female relatives and prenatal or preimplantation genetic diagnosis. Molecular testing for HA also helps distinguish it from von Willebrand disease (VWD). Next-generation sequencing (NGS) allows simultaneous investigation of several complete genes, even though they may span very extensive regions. This study aimed to evaluate the usefulness of a molecular algorithm employing an NGS approach for sequencing the complete F8, F9 and VWF genes...
October 13, 2016: Thrombosis and Haemostasis
Alexandre Kauskot, Sonia Poirault-Chassac, Frédéric Adam, Vincent Muczynski, Gabriel Aymé, Caterina Casari, Jean-Claude Bordet, Christelle Soukaseum, Chantal Rothschild, Valérie Proulle, Audrey Pietrzyk-Nivau, Eliane Berrou, Olivier D Christophe, Jean-Philippe Rosa, Peter J Lenting, Marijke Bryckaert, Cécile V Denis, Dominique Baruch
von Willebrand disease type 2B (VWD-type 2B) is characterized by gain-of-function mutations of von Willebrand factor (vWF) that enhance its binding to platelet glycoprotein Ibα and alter the protein's multimeric structure. Patients with VWD-type 2B display variable extents of bleeding associated with macrothrombocytopenia and sometimes with thrombopathy. Here, we addressed the molecular mechanism underlying the severe macrothrombocytopenia both in a knockin murine model for VWD-type 2B by introducing the p...
October 6, 2016: JCI Insight
Baoling Zhu, Kai Liu, Chengzhi Yang, Yuhui Qiao, Zijian Li
Cardiac remodeling is the pathological basis of various cardiovascular diseases. In this study, we found gender-related differences in β-adrenergic receptor (AR)-mediated pathological cardiac remodeling. Cardiac remodeling model was established by subcutaneous injection of isoprenaline (ISO) for 14 days. Heart rate (HR), mean arterial pressure (MAP), and echocardiography were obtained on 7th and 14th days during ISO administration. Myocardial cross-sectional area and the ratio of heart mass to tibia length (HM/TL) were detected to assess cardiac hypertrophy...
August 7, 2016: Canadian Journal of Physiology and Pharmacology
Jamie M O'Sullivan, Sonia Aguila, Emily McRae, Soracha E Ward, Orla Rawley, Padraic G Fallon, Teresa M Brophy, Roger J S Preston, Lauren Brady, Orla Sheils, Alain Chion, James S O'Donnell
BACKGROUND: Enhanced von Willebrand factor (VWF) clearance is important in the etiology of both type 1 and type 2 von Willebrand disease (VWD). In addition, previous studies have demonstrated that VWF glycans play a key role in regulating in vivo clearance. However, the molecular mechanisms underlying VWF clearance remain poorly understood. OBJECTIVE: To define the molecular mechanisms through which VWF N-glycan structures influence in vivo clearance. METHODS: Using a series of exoglycosidases, different pd-VWF glycoforms were generated...
October 12, 2016: Journal of Thrombosis and Haemostasis: JTH
M Naveen Chand, A Krishna Murthy, G Vasavilatha, B Srinivas, V C Srinivas Reddy
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Susheel Bhattad, Gajanan Gondhali
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Nasser M Al-Daghri, Majed S Alokail, Antigoni Manousopoulou, Ashley Heinson, Omar Al-Attas, Yousef Al-Saleh, Shaun Sabico, Sobhy Yakout, Christopher H Woelk, George P Chrousos, Spiros D Garbis
BACKGROUND: Overweight adults are at increased risk for cardiovascular disease and vitamin D deficiency, whereas an important feature to vitamin D physiology is its sex dependence. The aim of this study was to examine whether vitamin D status improvement exerts a sexually dimorphic effect on serum proteins associated with cardiovascular risk among overweight adults. METHODS: Unprocessed serum from age- and BMI-matched men (n=26) and pre-menopausal women (n=24) with vitamin D deficiency and after they achieved sufficiency through a 12-month nutritional intervention was analyzed using our previously published depletion-free, quantitative proteomics method...
October 11, 2016: European Journal of Clinical Investigation
Cheryl K Roth, Lindsey J Syed
von Willebrand disease is the most prevalent inherited bleeding disorder, affecting up to 1.3% of the population. It is caused by a defect or deficiency of the von Willebrand factor. Women with the condition may not be aware of their condition at the time of childbirth, but they are at high risk of postpartum hemorrhage even days after birth. In this article we briefly review the condition and specific considerations for the antepartum, intrapartum, and postpartum phases. It is important for nurses who care for women during childbirth to have a keen understanding of this condition...
October 2016: Nursing for Women's Health
Robert Kölm, Monica Schaller, Lubka T Roumenina, Iga Niemiec, Johanna A Kremer Hovinga, Elham Khanicheh, Beat A Kaufmann, Helmut Hopfer, Marten Trendelenburg
Premature atherosclerosis and thrombotic complications are major causes of morbidity and mortality in patients with systemic lupus erythematosus (SLE). However, the high incidence of these complications cannot be explained by traditional risk factors alone, suggesting direct effects of an activated immune system on hemostasis. The unexpected nucleotide sequence homology between SLE patient -: derived autoantibodies against complement C1q (Fab anti-C1q) and von Willebrand factor (VWF) led us to investigate a potential interaction between the complement and hemostatic systems on the level of initiating molecules...
October 3, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
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