341 results
To investigate the relation between a known genetic variation in a set of selected genes involved in the recognition of microorganisms and inflammation and the frequency of respiratory tract infections in a group of children with DS.
Genetic analysis of the familial inheritance pattern of the COL3A1 2209G>A polymorphism.
To characterise the number, phenotype and functionality of regulatory T cells and cytokines produced in the peripheral blood of children diagnosed with asthma.
Comparing fertilty of male galactosemia patients to a control group
To evaluate the blood pressure within the first year of life we will perform a prospective longitudinal study in all newborn patients with the classical form of CAH. To analyze the urinary steroid profile in CAH patients and healthy controls during…
This will be a pilot study that aims to gain insight into the effect of Gaucher disease on bone metabolism. For this purpose we formulated the following research questions:What is the effect of inflammatory factors in the serum of patients with…
The primary objective of this study is to establish the sensitivity and specificity of an oral uracil loading test as a potential screening tool for DPD deficiency
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…
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 aim of this study is to measure dopaminergic metabolic outcomes in people with VCFS and pre-existing or acquired cognitive impairment. Particularly we are interested in the dopaminergic neurotransmission related to the COMT genotype.
In this part of the project we use two 'categories' of test outcomes: false positives and positive test results for a metabolic disease that was not tested. Objectives of the study are to evaluate these categories of test outcomes by…
In this study we aim to compare the effect of two different ovarian stimulation protocols on embryo quality in a group of women of 39 years or younger, in a prospectively randomized controlled trial. PGS will be performed to assess chromosomal…
To establish whether carriers of LMNA mutations have a hypercoagulable state compared to non-affected family members.
Primary Objective: Mapping the consequences of a congenital monokidney on kidney function for children with MCKD.Secondary Objective(s): - Giving recommendations about follow-up for children treated with nephrectomy for MCKD.- Defining better blood…
The core approach of our proposed project is to investigate three aspects of emotional recognition in the Möbius and congenital bilateral facial paralysis populations through observed facial expressions, and the possible link between them, as…
Primary Objective: 1) We want to investigate whether carriers of FLG-null mutations show higher responses to exposure to the skin irritant SLS than non-carriers.2) Furthermore, we want to investigate whether carriers of mutations in the genes coding…
1. To evaluate the clinical usefulness of STIC with post-process rendering capability. Our goal is to investigate whether STIC gives more accurate information about a suspected cardiac anomaly, compared to conventional 2D ultracardiography.2. To…
The aim of this study is assessment of right ventricular function: a comparison between MRI and real-time 3-D echocardiography (RT 3-D echo). We have the following research questions: 1) Is assessment of right ventricular (RV) function with RT 3-D…
The primary objective of the study is to examine the feasibility of measurements, program design and implementation adherence of a cardiovascular exercise program in persons with Down*s syndrome suffering from Alzheimer*s disease. Secondary…
Our primary objective is to measurec glycocalyx volume with OPS imaging, before and after sublingual nitroglycerine-spray administration, in patients with premature atherosclerotic disease before the age of 40 years and a positiev family history for…