246 results
Our primary aim is to develop en perfection the diagnostic accuracy of the non-invasive tests for chromosomal aberrations in maternal blood.
The specific objectives are:1. What is the difference of in vitro CFTR function in CF patients with either mild (compound heterozygote A455E) mutations or severe (homozygote F508del) mutations with mild or severe clinical disease? 2. What is the…
To develop and examine the test-retest reliability of a wheelchair skills test for children
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 is to obtain OCT data for children aged 4 to 10 diagnosed with non-syndromic craniosynostosis and to compare these to the normal reference values.
The primary objective of this study is to measure whether αvβ3 integrin expression and tracer uptake values of 68Ga-DOTA-(RGD)2 change in patients with (recurrent) low-flow vascular malformations after embolization therapy.
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…
To identify novel diagnostic and prognostic (bio)markers of Dementia with Lewy Bodies.
To assess the accuracy and cost-effectiveness of PO screening for CCHD in the Dutch perinatal care system.
To determine the feasibility of rs-fMRI in neonates undergoing a planned diagnostic MRI session following perinatal asphyxia. To assess intra-session reproducibility (test-retest reliability) of the rs-fMRI technique in neonates with asphyxia.
The aim of this study is to determine novel (bio)markers that show a stronger correlation with signs of over- and under-treatment than the conventional adrenal steroid profile in children with CAH.
Primary Objective: to determine the prevalence of MTWA in adults with congenital heart disease who are deemed to be at high risk for ventricular arrhythmias and sudden cardiac death.Secondary Objective(s): • to describe the clinical usefulness and…
To assess the prevalence of BHD among patients with spontaneous sporadic and familial pneumothorax.
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…
Performance is the primary objective of this study and is defined as the ability of the in vitro diagnostic micro-assay to measure von Willebrand factor induced platelet aggregation in accordance with the golden standard diagnostic method, risto-…
The primary goal of this study is to determine if the use of multi-site NIRS-monitoring in newborn infants at risk of circulatory failure could lead to a better diagnosis, treatment and outcome in these infants compared to the use of conventional…
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…
K2. objective