37 results
The main object is to evaluate the validity of a diagnostic screening package for bleeding tendency consisting of point-of-care devices when compared with the gold standard for bleeding tendency diagnosis.Other objects which will be investigated are…
The primary objective of this study is to establish the diagnostic accuracy of ultrasound assessment of the synovium in haemophilic arthropathy compared to MRI. Secondary objectives are (2A) to determine whether or not synovial hypertrophy on MRI is…
To determine whether pathological changes are visible in brain parenchyma, blood vessels or other intracranial structures on ultra high field MRI in SCD patients in normal anatomical areas on 3.0 Tesla MRI and to determine the nature of these…
Main objective of the current study is to evaluatie clinical, laboratory and genetic risk factors associated with prograssion of neurological damage. The final objective is to make a prognostic model of these risk factors to predict early…
To investigate whether patients with hemophilia A develop less coronary artery atherosclerosis as compared to non-hemophilic males.
Detection of mutations in AKT1 in patients with KTS
Objectives: 1. To investigate the types of antitrombin deficiency in these families2. To find the mutations in our families/patients with antitrombin deficiency.3. To establish the risk of VTE due to these mutations and subtypes.(comparing…
Our first aim is to find the cause of lymphatic dysplasia in children. The subsequent aim is to study the pathogenesis of the entity. The final aim is to increase our understanding of regulation of lymph vessel formation in man.
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The family, described in a publication from 1987, is recently re-identified. It seems to be an asymptomatic condition: there seems to be no anemia or secondary iron overload. Again mapping this family has two purposes:1. Have these patients…
Assessing hereditary and aquired determinants of ETP. Evaluating the use of ETP as predictive stand alone test for recurrent DVT and bleeding complications due to anticoagulation therapy in comparisson with the current prediction methods.
To investigate the relation of platelet responsiveness and systemic platelet activity to phenotype in patients with severe hemophilia A.
1. To study the mechanisms that control endothelial and platelet secretion using blood outgrowth endothelial cells (BOECs) as an ex vivo model of endothelial and platelet secretion, in order to identify new regulators of and further unravel their…
1.To create insight in current disease burden by creating a descriptive cohort of patients, diagnosed with rare congenital hemolytic anemia. Points of interest are:- Prevalence and incidence of disease- Quality of life- Prevalence and incidence of…
Performance is the primary objective of this study and is defined as the ability of the in vitro diagnostic micro-assay to measure von Willebrand factor induced platelet aggregation in accordance with the golden standard diagnostic method, risto-…
We aim to further explore the role of decreased activity and stability of PK in several types of hereditary hemolytic anemia and non-regenerative anemia. Moreover, we will study the effect of restoring this instability using second generation (…
To examine the determinants of survival of donor RBCs in SCD patientsTo look into the effect of transfusion on the innate immune system of sickle cell patients, in particular, the phenotype of the neutrophils.
In this study, the genetic risk factors and time dependent risk factors for alloimmunization will be analyzed. Furthermore, the role of the innate and adaptive immune system on allo-antibody formation in SCD patients will be elucidated.
To determine the natural history of sickle cell disease and to identify modifying factors, including: (epi)genetic, biological, pathophysiological, social/ demographic, psychological and therapeutic determinants, which contribute to morbidity and…
Primary objective: to register and investigate Dutch patients suspect for an inherited platelet function disorder, to assess clinical presentation, bleeding score, treatment, burden of disease and quality of life. Secondary objectives: to…