79 results
The overall aim of the study is to improve diagnostic and therapeutic options for people with CF, especially in the context of young children and novel CFTR-targeting drugs. Primary Objective: 1. to demonstrate relations between CFTR genotype,…
The primary objective for this study is to evaluate the cerebrovascular reactivity of HCHWA-D patients:1. To compare the (autoregulatory) function of small brain vessels in HCHWA-D patients with matched controls using the cerebrovascular reactivity…
Description of cognitive, psychiatric and neuroanatomical profile in adult women with triple X syndrome compared with a group of healthy controls on average of the same age and of the same IQ. IQ is considered as a potential confounder and treated…
Firstly, comparison of DTI outcome variables between the auditory nerve of a deaf ear with that of a normal ear. Secondly, in patients who receive a CI, DTI measures will be compared to measures derived from electrically evoked compound action…
Primary Objective: to derive iPSCs from patients with a variety of diseases caused by genetic mutations or genetic predisposition to disease or of unknown origin. The cells will be propagated and differentiated into a variety of somatic cell types…
To measure the 18F-fluoride activity of otosclerosis in patients diagnosed with otosclerosis (by audiometry, CT scan and/or operative findings) in a different stage of their disease. If this diagnostic proves to be reliable and reproducible, this…
To compare discrimination ability for touch and temperature between subjects with Down*s syndrome and healthy controls. To compare thermal pain thresholds between subjects with Down*s syndrome and healthy controls
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…
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 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…
Primary Objectives: 1. To tailor and apply multi-parametric, functional MRI techniques to identify cerebral abnormalities (cerebral biomarkers) in MELAS patients.2. To investigate which cerebral biomarkers are shared and differ between MELAS…
The above anounced studies suggest that some abnormalities in the Wnt pathway can be expected to affect development and function of the brain, potentially leading to recognizable behavioural phenotypes. Given the key role of APC in the Wnt pathway,…
The aims of the proposed study are (1) to test the reliability of knee moment-angle measurements, (2) to obtain insight how muscle and tendon characteristics in children with CP contribute to the limitations in range of motion (ROM) of the knee and…
Primary objective: to evaluate the image quality between the two protocols using Signal to Noise Ratio (SNR) measurements Secondary objectives: 1) test if measurements of lung volume and central airways dimensions using MRI are related to validated…
Objective 1To describe the course and underlying mechanisms of dysphagia in children with congenital myopathy (from 6 months to 12 years)Objective 2To formulate recommendations for early detection, diagnostic assessment , treatment and advices for…
To investigate the potential value of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) on a 3 Tesla MRI system to visualize the spinal cord in SMA patients and to investigate motor connectivity in vivo in patients with SMA.
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…
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…
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…