246 results
The focus of this study is to get more insight in the pathophysiology of IUGR. The main goal is to investigate the applicability of STIC in determining fetal cardiac function in IUGR.
We will investigate the feasibility of using STIC technology to evaluate the normal fetal cardiac anatomy and morphology in different stages of gestation. Further we aim at making normograms of different intracardiac parameters in relation to…
Hypothesis: Changes in NIMA over 5 years, measured by repeated NIMA in both a low and a high-risk population, in relation to changes in traditional and new CV risk factors and incidence of CVD will reveal the main determinants of each of the NIMA.…
The purpose of this study concerns at a standardized way identifying the phenotype of patients with mt.3243A>G mutation, and relatives in the maternal line of patients with the mt.3243A>G mutation
To determine whether different MR-based imaging techniques and FibroScan can be used for the purpose of identifying and monitoring Gaucher Disease patients at high risk of developing disease related liver complications.
The main objective is to assess the frequency of hidden mosaicism, including Y material, in TS patients and examine the effect on: response to different GH doses and GH injection frequency regimens, aortic diameter and distensibility, congenital…
To compare the pharmacokinetic profile of uracil in cancer patients and healthy volunteers
The objective is to describe the nature and underlying (neuromuscular en biomechanical) factors of dysphagia in different neuromuscular diseases in relation to different consistencies of food. Identifying the contributing factors are starting points…
the objective of the current study is to evaluate the safety and efficacy of enzyme therapy in the Dutch population of patients with MPS I, II and VI; to compare this to the natural course of these diseases; to make an inventory of the direct and…
The aim of our study is to identify the same 4 circulating analytes identified in the animal models in human subjects. An additional task will be to measure the basal levels and the inter-individual variability.
1) To demonstrate an elevated troponin concentration before exercise and a rise of troponin after exercise in both pre-clinical HCM mutation carriers and HCM patients with the hypertrophic phenotype, 2) To evaluate the troponin rise in relation to…
our primary aim is to validate a targeted analysis of circulating DNA in maternal blood by assessing the diagnostic accuracy for fetal trisomy 21. In addition, test characteristics for fetal trisomy 18 detection will be evaluated.
The current pilot-study will examine the relation between depressive symptoms and serum levels of pro-inflammatory cytokines in CHD-patients.
Diagnosis of patients with primary hyperoxaluria in a cohort of patients with recurrent urolithiasis.
The primary objective is to determine if echocardiography in combination with plasma biomarkers can be used as a potential predictor for pulmonary hypertension. The secondary objectives are assessment of a potential correlation between…
The purpose of this study is to investigate the genotype of a large group of CSNB patients for which the phenotype is already known. We hope to increase our understanding of CSNB in order to improve diagnosis, to offer more realistic prognoses and…
1. To evaluate the consequences of the diagnosis of a sexchromosomal abnormality during routine prenatal diagnostic testing, in the course of which the experiences of the parents and professionals involved will be noted.2.To determine if it would be…
Since the first description of FPLD it is becoming increasingly evident that lipodystrophy is often misdiagnosed as diabetes with extreme insulin resistance. With this project, we want to find out the prevalence of lipodystrophy in patients with…
To compare feasibility, accuracy and intra-and interobserver variability of short-axis derived versus long-axis derived RV volumes by realtime 3D echocardiography.
To prospectively compare NBI with HRE for the detection and differentiation of polyps in HPS in a large multicentre HPS cohort (n~125).