Type 1 von Willebrand Disease

08/01/2009 - "Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study."
04/01/2007 - "Impact of plasma von Willebrand factor levels in the diagnosis of type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1VWD)."
09/01/2015 - "Changes in von Willebrand factor level and von Willebrand activity with age in type 1 von Willebrand disease."
09/01/2015 - "Type 1 von Willebrand disease (VWD) is transmitted mainly as a dominant trait - especially in forms involving von Willebrand factor (VWF) levels below 20 U/dL - and less frequently as a recessive trait. "
08/01/2014 - "Only ± 50% of patients with type 1 von Willebrand disease (VWD) have recognized molecular defects and diagnosis still rests on demonstrating low plasma von Willebrand factor (VWF) protein/function. "

04/01/2008 - "Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD."
03/01/2013 - "Response to low-dose desmopressin by a subcutaneous route in children with type 1 von Willebrand disease."
02/15/2003 - "Administration of 1-desamino-8-D-arginine-vasopressin (DDAVP) to patients with type 1 von Willebrand disease and to healthy individuals causes a rapid increase in plasma VWF levels. "
07/01/1998 - "Desmopressin is the treatment of choice in patients with type 1 von Willebrand disease, who account for approximately 80% of cases. "
01/01/1998 - "Desmopressin was administered intranasally to seven patients with von Willebrand disease (type 1: 4 patients, type 2A: 3 patients) to assess the response and safety. "

08/01/2013 - "Safety and pharmacokinetics (PK) of recombinant von Willebrand factor (rVWF) combined at a fixed ratio with recombinant factor VIII (rFVIII) were investigated in 32 subjects with type 3 or severe type 1 von Willebrand disease (VWD) in a prospective phase 1, multicenter, randomized clinical trial. "
02/01/1994 - "We report the case of a family with type I von Willebrand disease (vWD), characterized by a quantitative defect in von Willebrand factor (vWF), associated with a defective binding of vWF to factor VIII (FVIII) also called the "Normandy" variant of vWD. "
09/01/2009 - "We report the successful management of a craniosynostosis repair in a child with severe Type I von Willebrand disease diagnosed during the preoperative assessment and treated by coagulation factor VIII and ristocetin cofactor. "
06/01/2001 - "Studies are in progress, first to better characterize patients with type I von Willebrand disease and to determine their response to desmopressin, and second, to evaluate the pharmacokinetics of factor VIII following factor VIII/von Willebrand factor concentrates and to establish the indication for concentrates."
05/01/2013 - "The aim of treatment is to correct the dual defect of hemostasis caused by the abnormal/reduced von Willebrand factor and the concomitant deficiency of factor VIII. Desmopressin is the treatment of choice for type 1 von Willebrand disease patients with factor VIII and von Willebrand factor levels of 10 U/dL or over who have proved responsive to a test-infusion with the compound. "

01/01/2003 - "In samples from healthy controls and from patients with von Willebrand disease type 1, the flow cytometry assay showed good correlation with the VWF:RCo assay (r2 = 0.69) and the VWF antigen assays (r2 = 0.83), which was better than the correlation between the VWF:RCo assay and VWF antigen assays (r2 = 0.72). "
04/01/2014 - "Based on both reduced level of vWF antigen (vWF:Ag, range 14-56%) and ristocetin cofactor activity (vWF:RCo, range 12-53%), with a vWF:RCo/Ag ratio >0.7, the diagnosis of type 1 von Willebrand disease was made in all six cases. "
09/01/2010 - "Validation of a rapid test (VWF-LIA) for the quantitative determination of von Willebrand factor antigen in type 1 von Willebrand disease diagnosis within the European multicenter study MCMDM-1VWD."
10/01/1998 - "Two members of a family previously classified as type 1 von Willebrand disease (VWD), showed a quantitative defect in von Willebrand factor (VWF) antigen and ristocetin cofactor activity and an abnormal capacity of VWF to bind FVIII. "
01/01/1998 - "The intracellular localization of a factor VIII-related antigen in human umbilical veins derived both from a patient with 'severe Type 1' von Willebrand disease and from a normal full-term baby was investigated by immunoelectron microscopy. "

10/01/2010 - "Owing to its ability to raise plasma levels of factor VIII and von Willebrand factor levels, the synthetic vasopressin analogue desmopressin has become the mainstay of treatment for type 1 von Willebrand disease and mild hemophilia A. "

09/01/2014 - "Apart from representing an increased thrombotic risk, additional considerations entail the potential need (1) to utilize age-adjusted normal ranges (e.g., for D-dimer), (2) to consider the consequence on previous diagnoses (e.g., "mild type 1" von Willebrand disease [VWD], where VWF test results may "normalize" with aging), and (3) to consider the effect of these changes of risk factors on the (perceived) therapeutic efficacy of antithrombotic medications such as aspirin. "

09/01/2014 - "Apart from representing an increased thrombotic risk, additional considerations entail the potential need (1) to utilize age-adjusted normal ranges (e.g., for D-dimer), (2) to consider the consequence on previous diagnoses (e.g., "mild type 1" von Willebrand disease [VWD], where VWF test results may "normalize" with aging), and (3) to consider the effect of these changes of risk factors on the (perceived) therapeutic efficacy of antithrombotic medications such as aspirin. "

09/01/1998 - "Measurement of the von Willebrand factor (vWF) propeptide, also known as von Willebrand antigen II, has been suggested to be helpful in the discrimination of congenital von Willebrand disease type I from type 2 and in assessing the extent of activation of the endothelium. "

03/21/2013 - "We analyzed the contribution of VWFpp and ratios of VWFpp/VWF:Ag and FVIII:C/VWF:Ag in the pathophysiological characterization of type 1 von Willebrand disease (VWD) in the Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD) study. "
01/01/2007 - "Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)."
04/01/2006 - "Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD."
11/01/2014 - "To investigate the utility of an electronic version of the condensed molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (VWD) bleeding questionnaire (eBQ) in assessing the bleeding phenotype in platelet-type VWD (PT-VWD) and compare it to its closely similar disorder, type 2B VWD. "
01/01/2012 - "The Vicenza bleeding score (and its successor, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand disease [MCMDM-1 VWD]) and its pediatric counterpart, the Pediatric Bleeding Questionnaire, are validated research tools that have demonstrated their ability to discriminate between healthy subjects and those with VWD. "

11/04/2010 - "These studies show that the 13-bp deletion mutation alters the binding of Ets (and possibly GATA) proteins to the VWF promoter and significantly reduces VWF expression, thus playing a central pathogenic role in the type 1 von Willebrand disease phenotype in the index case."
11/15/2001 - "Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins."

07/01/2007 - "Epidural analgesia for parturients with type 1 von Willebrand disease."
12/01/2003 - "A 33-year-old primipara with von Willebrand disease type I was admitted in labor at 37 weeks, requesting epidural analgesia. "

01/01/2009 - "Considerations for epidural anesthesia in a patient with type 1 von Willebrand disease."
01/01/2009 - "Epidural anesthesia, combined with general anesthesia, was performed in a patient with type 1 von Willebrand disease (VWD). "
12/01/2003 - "[Treatment with desmopressin before epidural anesthesia in a patient with type I von Willebrand disease]."

12/01/2015 - "We report the case of a 42-year-old woman, with type I von Willebrand disease, who underwent off-pump coronary artery bypass grafting. "

08/01/2011 - "Hemostatic management in pediatric patients with type I von Willebrand disease undergoing oral surgery: case report and literature review."

12/01/2007 - "A 42-year old white female, with 165 cm, 61 kg, ASA II, with a diagnosis of type 1 von Willebrand disease, underwent pre-anesthetic evaluation for rhinoplasty. "