162 results
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 aim of this prospective study is 1) to evaluate the diagnostic efficacy of DBE in comparison to MRE as surveillance technique of the small-bowel in PJS patients, 2) to analyze patient burden and quality of life with DBE and MRE, and 3) to…
Does the lack of the Aquaporin-2 water channel cause cyst formation in patients suffering from nephrogenic diabetes insipidus?
The objectives of this study are:1. to evaluate the occurrence and distribution of structural brain changes in HHT patients with and without pulmonary AVMs as compared to healthy age matched controls;2. to evaluate the (autoregulatory) function of…
1. To assess the long term outcome of surgical treatment for bilateral undescended testes with special regard for the fertility potential. 2. In the past 2 different techniques have been used for orchidopexy (with or without involving of the tunica…
The objective of the study is to investigate if it is possible to predict the clinical outcome of a patient with SCN1A related epilepsy based on the findings of advanced genotyping. We aim to answer the following questions:1. Can clinical outcome in…
To identify novel diagnostic and prognostic (bio)markers of Dementia with Lewy Bodies.
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.
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.
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.
To assess the accuracy and cost-effectiveness of PO screening for CCHD in the Dutch perinatal care system.
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.
The objective of the study is to show that it is in principle possible to diagnose carriership of both partners of a couple by means of exome sequencing (proof of principle)
In this pilot study we intent to evaluate whether children born from TESE-ICSI treatment are at risk for increased de novo (pathological) mutations. This research is novel and pioneering, and never published before. We expect the outcome to be…
The objective of this study is to collect blood samples of women who participated in the ALIFE trial, to test for several DNA-variations as well as anti β2 glycoprotein antibodies, but also to perform overall coagulation assays, such as clot lysis…
Obtain information regarding the movement abilities and muscle strength in persons with several neuromuscular diseases, which can be used to develop a motion controlles arm suport for daily use and training of arm function.
The Cardiomyopathy Registry Study (CARS)-II aims to1) Create a national cohort with biorepository of patients with paediatric DCM2) To elucidate (epi) genetic causes of iDCM in a uniform and state of the art way.3) Identify clinical risk factors for…
To investigate whether it is feasible to perform a large national implementation study in which community based midwives in the Netherlands use a pulse oximeter for screening newborns for CHD.
To develop and examine the test-retest reliability of a wheelchair skills test for children