125 results
The primary objective is to assess neuropsychological function in X-ALD patients without active cerebral demyelinating disease. Data of minors will be compared to matched healthy controls. Data of adults will be compared to reference values. The…
The main objective is to describe the interactions between physical sensory stimulations and high-level prior assumptions that give rise to visual perception. In two secondary objectives, we will advance novel model-based neuroimaging data-analysis…
The primary objective is to study if quantitative (3- and 7-Tesla) MRI protocols (MRI perfusion, diffusion tensor imaging (DTI), and chemical shift imaging (CSI)) are able to detect phenotype conversion earlier than conventional MRI. Results will be…
Evaluate the effect of menarche and menstrual cycle on the QTc interval among girls with genetically confirmed mutations causing LQTS type 1 (LQT1) and type 2 (LQT2).
Primary Objective: To further optimize the IPMDSSecondary Objective(s): To determine in which age-groups the items within the IPMDS are appropriate To determine whether the IPMDS can assessed reliably by research nurses, students and physician…
Primary objective- Short- and mid-term repeatability of mDLS and LSCI measures;- Comparison of blood flow obtained by LSCI and blood flow obtained by mDLS;- Comparison of coagulation status obtained by mDLS and coagulation status assessed by…
Patients with chronic respiratory failure currently start their ventilatory support in hospital as stated in national guideline. However, as these patients are severely disabled, a stay at the hospital for several days is experienced by many as very…
We aim to conduct a five year follow-up amongst the X-ALD carriers and assess their current symptomatic and biochemical status. This data will provide new insights in the progression of the disease in carriers. Moreover we would like to validate a…
The study comprises 2 parts.Part 1: Primary: to assess sexual functioning, sexual self image and psychological and relational functioning in MRKH women with surgical or non- surgical created neovaginas and their partners and make a comparison with…
Previous studies have suggested an association between FD and cognitive impairment but these were flawed either by lack of power, used variable assessment of cognitive functioning and/or merged results of different phenotypes and sexes. It is of…
Objective of this study is to determine if Optical Coherence Tomography (OCT) measurements are a reliable measure of the severity of neurological impairment in patients with X-ALD and ZSD and therefore if OCT is an acceptable "surrogate"…
The main objective of this study is to examine the executive, social-cognitive, and social functioning and behaviour of 7-30 year old PKU patients in relation to history of treatment and treatment adherence. It is expected that there will be…
To evaluate the prevalence of femoral head pathology in patients with MPS III.
The main objective of the separate studies of this study is the evaluation of grasping performance when electrotactile or vibrotactile feedback is provided compared to the non-feedback and only visual feedback situation. The main question to be…
Primary Objective: The painscores regarding abdominal pain among women with primary outflow obstruction in comparison with an age matched control group.Secondary Objective(s): The prevalence of sexual problems due to the congenital anomalies or the…
To investigate whether the peripheral nervous system is involved in paroxysmal neurological conditions.
We aim to document the brain anatomy and functioning and development of children and adolescents of different ages who suffer from Prader-Willi syndrome in order to gain insight into the possible relation between the observed behavior and the brain…
We aim to increase patient compliance by extending the existing treatment protocol of (oral or intravesical) anticholinergics plus application of CIC with the addition of bladder pressure measurement performed at home during CIC plus access to an…
- To assess the burden of disease of congenital CMV infection in the Netherlands at the age of 5 to 6 years through the assessment of the occurrence of sensorineural hearing loss due to congenital CMV infection.- To establish the burden of disease…
The family with the TRα2 premature stop enables us to investigate the biological role of the orphan wild-type TRα2 and the consequences of its dysfunction. The primary objectives of this proposal are (i) to search for a biological function of TRα2…