25 results
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.
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…
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…
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…
Investigating red blood cell deformability changes, during treatment, measured with hyperoxia-hypoxia ektacytometry in sickle cell anemia patients, patients with HbSC disease and patients with HbS-beta-thalassemia.
Our primary aim is to investigate the current bleeding tendency of patients with VWD.
HSCT cohort:* -To investigate the relationship between IFNγ levels and IFNγ activity by measuring CXCL9 levels and the risk of graft failure* -To investigate the relationship between IFNγ levels and IFNγ activity by measuring CXCL9 levels and the…
The main aim is to study early neurocognitive functioning and development in very young children with SCD. The secondary aims are to identify determinants (risk and protective factors) and biomarkers of early neurocognitive deficits in SCD and to…
Identification, segregation analysis, and functional characterization of genetic variants possibly causing rare bleeding disorders. The following questions will be answered:1) Can we identify (new) causal variants that explain the phenotype of…
Primary Objective:Improve the knowledge about the immune response during FVIII/FIX replacement therapy in patients with haemophilia A and B respectively. This involves both the mechanism of: 1) primary tolerance induction to FVIII/FIX in previously…