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Ye Jee Shim, So Yun Park, Nani Jung, Heung Sik Kim, Jung-Sook Ha, Ja-Hyun Jang
A 10-year-old male and his family members visited a pediatric hematology clinic due to coagulopathy. Laboratory tests indicated von Willebrand disease (vWD) in all the family members. We conducted diagnostic exome sequencing for confirmation. The patient was confirmed to be a compound heterozygote for vWD: c.2574C > G (p.Cys858Trp) from his father (known variant of vWD type 1) and c.3390C > T (p.Pro1127_Gly1180delinsArg) from his mother (variant known to result in exon 26 skipping in vWD type 2A)...
June 12, 2018: Pediatric Blood & Cancer
C Hermans, R Kulkarni
Diagnosis of the genetic status and assessment of potential clotting factor deficiency in haemophilia carriers are performed more easily nowadays. However, delays in providing those diagnosis and appropriate management are often reported despite increased availability of genetic techniques and improved awareness that carriers may have bleeding experiences. Women with von Willebrand disease (VWD) and rare factor deficiencies (RFD) may bleed during pregnancy and following childbirth and in some cases may experience adverse foetal/neonatal outcomes...
May 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
Anna M Randi, Koval E Smith, Giancarlo Castaman
Several important physiological processes, from permeability to inflammation to haemostasis, take place at the vessel wall and are regulated by endothelial cells (EC). Thus, proteins that have been identified as regulators of one process are increasingly found to be involved in other vascular functions. Such is the case for Von Willebrand Factor (VWF), a large glycoprotein best known for its critical role in haemostasis. In vitro and in vivo studies have shown that lack of VWF causes enhanced vascularisation, both constitutively and following ischemia...
June 4, 2018: Blood
Christopher J Ng, Jorge Di Paola
von Willebrand disease (VWD) is one of the most common inherited bleeding disorders. Since its first description in 1926, the diagnosis and management of VWD has significantly improved due to increasing scientific knowledge of the genetics and biology of von Willebrand factor (VWF). This article reviews the molecular structure and function of VWF as well as the clinical symptoms, laboratory-based diagnostic workup, and classification schema for VWD. It highlights current treatment options and state-of-the art research in VWF and VWD...
June 2018: Pediatric Clinics of North America
Thorsten Haas, Melissa M Cushing, Stephanie Varga, Séverine Gilloz, Markus Schmugge
Platelet function testing is a cornerstone in the diagnostic investigation of patients with a bleeding history. Multiple electrode aggregometry (MEA) has been shown to detect von Willebrand disease (VWD), platelet function disorders, and drug-induced bleeding disorders. However, there are few studies supporting its successful use in children. We have implemented and used MEA over 3 years in our hemostasis laboratory in order to study its usefulness to supplement and expedite diagnosis. This is a retrospective, single-center, cohort study of 109 hospitalized children who underwent a laboratory investigation of hemostasis and either had a reported bleeding history or an abnormal bleeding episode...
May 22, 2018: Platelets
Ferdows Atiq, Karina Meijer, Jeroen Eikenboom, Karin Fijnvandraat, Eveline P Mauser-Bunschoten, Karin P M van Galen, Marten R Nijziel, Paula F Ypma, Joke de Meris, Britta A P Laros-van Gorkom, Johanna G van der Bom, Moniek P de Maat, Marjon H Cnossen, Frank W G Leebeek
Some comorbidities, such as hypertension, are associated with higher von Willebrand factor (VWF) levels in the general population. No studies have been conducted to assess this association in patients with von Willebrand disease (VWD). Therefore, we studied this association in patients with type 1 (n = 333) and type 2 (n = 203) VWD from the 'WiN" study. VWF antigen (VWF:Ag) was higher in type 1 VWD patients with hypertension [difference: 0·23 iu/ml, 95% confidence interval (CI): 0·11-0·35], diabetes mellitus (0·11 iu/ml, 95% CI: -0·02 to 0·23), cancer (0·14 iu/ml, 95% CI: 0·03-0·25) and thyroid dysfunction (0·14 iu/ml, 95% CI: 0·03-0·26) than in patients without these comorbidities (all corrected for age, sex and blood group)...
May 16, 2018: British Journal of Haematology
A Pathare, F Al Hajri, S Al Omrani, N Al Obaidani, B Al Balushi, K Al Falahi
BACKGROUND: Assessment of the severity of bleeding symptom has led to the evolution of bleeding assessment tools which are now validated. AIMS: To administer the condensed molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease VWD (MCMDM-1 vWD) questionnaire to the Omani type 1 vWD patients and correlate it with the laboratory parameters. METHODS: Patients and controls were personally interviewed and the condensed MCMDM-1 vWD questionnaire administered by a single investigator...
May 13, 2018: International Journal of Laboratory Hematology
Dilek Gurlek Gokcebay, Vildan Culha, Nese Yarali, Namik Yasar Ozbek
: Type III von Willebrand's disease (vWD) is an inherited bleeding disorder, which is frequently associated with menorrhagia in women. Treatment options include antifibrinolytics, desmopressin, von Willebrand factor/factor VIII concentrates and in intractable bleeding circumstances recombinant factor VIIa (rFVIIa). We present an adolescent case with type III vWD who had a menorrhagia at menarche that was refractory to the standard treatment and ultimately was treated with rFVIIa successfully.
May 9, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
R K Shears, A J Bancroft, G W Hughes, R K Grencis, D J Thornton
Gastrointestinal nematodes, such as Trichuris trichiura (human whipworm), are a major source of morbidity in humans and their livestock. There is a paucity of commercially available vaccines against these parasites, and vaccine development for T. trichiura has been impeded by a lack of known host protective antigens. Experimental vaccinations with T. muris (murine whipworm) soluble Excretory/Secretory (ES) material have demonstrated that it is possible to induce protective immunity in mice, however the potential for extracellular vesicles (EVs) as a source of antigenic material has remained relatively unexplored...
May 10, 2018: Parasite Immunology
I Vangenechten, K Mayger, P Smejkal, O Zapletal, J J Michiels, G W Moore, A Gadisseur
BACKGROUND: von Willebrand Disease (VWD) is an inherited bleeding disorder caused by quantitative (type 1, 3) or qualitative (type 2) von Willebrand factor (VWF) defect. VWD diagnosis and classification require numerous laboratory tests. VWF: Glycoprotein Ib (GPIb)-binding activity assays are used to distinguish type 1 from type 2 VWD. OBJECTIVES: Three different automated VWF:GPIb-binding activity assays were compared. PATIENTS AND METHODS: BC-VWF:RCo (Siemens Healthcare Diagnostics), HemosIL® VWF:RCo (Instrumentation Laboratory) and INNOVANCE® VWF:Ac (Siemens Healthcare Diagnostics) were performed in a well typed VWD cohort (n=142)...
May 9, 2018: Journal of Thrombosis and Haemostasis: JTH
A de Jong, R J Dirven, J A Oud, D Tio, B J M van Vlijmen, J Eikenboom
BACKGROUND: Treatment of the bleeding disorder von Willebrand disease (VWD) focusses on increasing von Willebrand factor (VWF) levels through administration of desmopressin or VWF-containing concentrates. Both therapies leave production of mutant VWF unhindered which may have additional consequences, like thrombocytopenia in VWD type 2B, competition between mutant and normal VWF for platelet receptors, and potential development of intestinal angiodysplasia. Most VWD is caused by dominant-negative mutations in VWF and we hypothesize that diminishing expression of mutant VWF positively affects VWD phenotypes...
May 7, 2018: Journal of Thrombosis and Haemostasis: JTH
Emmanuel J Favaloro, Roslyn Bonar, Martine J Hollestelle, Ian Jennings, Soma Mohammed, Piet Meijer, Timothy Woods, Muriel Meiring
INTRODUCTION: von Willebrand disease (VWD), the most common inherited bleeding disorder, is due to deficiencies/defects in von Willebrand factor (VWF). Effective diagnosis requires testing for FVIII, VWF antigen and one or more VWF 'activity' assays. Classically, 'activity' is assessed using ristocetin cofactor (VWF:RCo), but collagen binding (VWF:CB) and/or other assays are used by many laboratories. This extensive international cross-laboratory study has specifically evaluated contemporary VWF activity assays for comparative sensitivity to reduction in high molecular weight (HMW) VWF, and their ability to differentiate type 1 vs 2A VWD-like samples...
April 19, 2018: Thrombosis Research
Xiaoxv Gao, Chengpeng Sun, Zhenglong Yu, Jian Cang, Xiangge Tian, Xiaokui Huo, Lei Feng, Xinguang Liu, Chao Wang, Baojing Zhang, Xiaochi Ma
In order to clarify regions of production and to discriminate processing methods, quantitative and qualitative analyses for saccharides and terpenes in 35 batches of Alismatis Rhizoma were performed. Methodologies included HPLC-PDA, HPLC-VWD and UHPLC-MS n , combined with principal component analysis (PCA) and partial least squares regression techniques (PLSR). The inhibitory effects of triterpenes and Alismatis Rhizoma extracts on lipase activity were evaluated in vitro . PLSR analysis revealed significant positive correlations ( R 2 = 0...
March 2018: Acta Pharmaceutica Sinica. B
Han Wu, Feng-Ze Jiang, Ji-Xing Guo, Jie-Qun Yi, Jian-Bo Liu, Ying-Shuai Cao, Xue-Shuang Lai, Gu-Ren Zhang
Vitellogenin (Vg) and vitellogenin receptor (VgR) play important roles in the vitellogenesis of insects. In this study, we cloned and characterized the two corresponding genes (TpVg and TpVgR) in an economically important insect, Thitarodes pui (Lepidoptera: Hepialidae), from the Tibetan plateau. The full length of TpVg is 5566 bp with a 5373 bp open reading frame (ORF) encoding 1,790 amino acids. Sequence alignment revealed that TpVg has three conserved domains: a Vitellogenin_N domain, a DUF1943 domain, and a von Willebrand factor type D domain (VWD)...
March 1, 2018: Journal of Insect Science
James D Anderst, Shannon L Carpenter, Rodney Presley, Molly Curtin Berkoff, Allison P Wheeler, Robert F Sidonio, J Michael Soucie
BACKGROUND: Bleeding disorders and abusive head trauma (AHT) are associated with intracranial hemorrhage (ICH), including subdural hemorrhage (SDH). Because both conditions often present in young children, the need to screen for bleeding disorders would be better informed by data that include trauma history and are specific to young children. The Universal Data Collection database contains information on ICH in subjects with bleeding disorders, including age and trauma history. Study objectives were to (1) characterize the prevalence and calculate the probabilities of any ICH, traumatic ICH, and nontraumatic ICH in children with congenital bleeding disorders; (2) characterize the prevalence of spontaneous SDH on the basis of bleeding disorder; and (3) identify cases of von Willebrand disease (vWD) that mimic AHT...
May 2018: Pediatrics
E Berntorp, A Ågren, L Aledort, M Blombäck, M H Cnossen, S E Croteau, M von Depka, A B Federici, A Goodeve, J Goudemand, P M Mannucci, M Mourik, P T Önundarson, F Rodeghiero, T Szántó, J Windyga
The fifth Åland Island meeting on von Willebrand disease (VWD) was held on the Åland Islands, Finland, from 22 to 24 September 2016-90 years after the first case of VWD was diagnosed in a patient from the Åland Islands in 1926. This meeting brought together experts in the field of VWD to share knowledge and expertise on current trends and challenges in VWD. Topics included the storage and release of von Willebrand factor (VWF), epidemiology and diagnostics in VWD, treatment of VWD, angiogenesis and VWF inhibitors...
May 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
Dominique Maas, Britta Laros-van Gorkom, Sanne Gianotten, Marjan Cruijsen, Waander van Heerde, Marten Nijziel
We present a rare case of acquired von Willebrand syndrome (AVWS) caused by a mantle cell lymphoma. A 61-year-old male suffered from recurrent bleeding symptoms since a few months. Initially, physical examination was normal. von Willebrand factor antigen (VWF:Ag) level and factor VIII activity (FVIII:C) were low (0.31 IU/ml and 0.43 IU/ml, resp.). Ristocetin cofactor activity (VWF:RCo) was 0.09 IU/ml, and collagen binding activity (VWF:CB) was 0.10 IU/ml. VWF:RCo/VWF:Ag ratio was 0.29, and RIPA value was normal...
2018: Case Reports in Hematology
E Holm, K Steen Carlsson, S Lövdahl, A E Lail, T C Abshire, E Berntorp
INTRODUCTION: Patients suffering from von Willebrand disease (VWD) have a variety of bleeding symptoms and require both outpatient care for treatment and, in more severe cases, hospitalization. AIM: To investigate the impact of having VWD on frequency of hospitalization compared to a control group and to evaluate whether regular replacement therapy (prophylaxis) is associated with reduction in the number of hospitalizations. METHODS: Linkage of national population-based registries was used in the Congenital Bleeding Disorders study in Sweden (CBDS)...
April 6, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
A Gupta, P Mishra, H P Pati, S Tyagi, M Mahapatra, T Seth, R Saxena
INTRODUCTION: Hemostatic disorders are often missed in women with bleeding particularly menorrhagia. Preexisting hemostatic disorders are now known as common risk factor for postpartum hemorrhage and prolonged bleeding in puerperium. Females with bleeding complaints constitute an important population referred to hematology clinic. Hence, we aim to evaluate the type and frequency of hemostatic disorders among females presenting with bleeding in a tertiary care hospital and a basic hemostatic laboratory...
March 25, 2018: International Journal of Laboratory Hematology
H C A M Hazendonk, J M Heijdra, N C B de Jager, H C Veerman, J Boender, I van Moort, R A A Mathôt, K Meijer, B A P Laros-van Gorkom, J Eikenboom, K Fijnvandraat, F W G Leebeek, M H Cnossen
INTRODUCTION: Patients with Von Willebrand disease (VWD) are regularly treated with VWF-containing concentrates in case of acute bleeding, trauma and dental or surgical procedures. AIM: In this multicentre retrospective study, current perioperative management with a von Willebrand factor (VWF)/Factor VIII (FVIII) concentrate (Haemate® P) in patients with VWD was evaluated. PATIENTS/METHODS: Patients with VWD undergoing minor or major surgery between 2000 and 2015, requiring treatment with a VWF/FVIII concentrate (Haemate® P), were included...
March 24, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
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