20 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.
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 main objectives of this study are feeding techniques and skills and weight gain. Secondary objectives are NS feeding *feeding sequelae*, extent of the cleft, associated malformations, upper respiratory infections / pneumonia, medication (child…
Developing a non-invasive test for detection of trisomy 21,13 orr 18 in the unborn fetusDeveloping a standardised protocol, inclusive quality criteria for the use of massive parallel sequencing of celfree fetal DNA in maternal plasmaOptimalising…
The primary aim is to evaluate sexual function in adults with congenital colorectal disease and sacrococcygeal teratoma. The secondary aim of this study is to evaluate whether additional information and care on this subject has been missed and would…
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
To identify high risk groups who are in need for more and specific help and guidance, and to offer appropriate counselling.
Inventarisation of the different physical characteristics of SRS at different ages. In this way, differences in phenotype between the 2 diferent causes of SRS will become apparent. Also, with this knowledge, more rpecise and elaborate information…
Aim of this project is to diagnose hearing impairment, and underlying disorders in speech perception and production, and to develop and implement adequate intervention techniques, which are subsequently evaluated. The ultimate goal is to prevent…
To identify factors that have an influence on the reproductive decision-making for a subsequent pregnancy of women having a child with congential anatomical anomalies.
The aim of the study is to improve the quality of life of cystinosis patients. Part of it forms neuropsychological screening in order to identify specific defects in the neurocognitive development and learning abilities. The results will contribute…
The proposed study will focus on newly diagnosed breast cancer patients who, prior to receiving treatment, are identified on the basis of age or family history of breast or ovarian cancer as having at least a 10% risk of carrying a mutation in the…
The primary objective is to study if PC surveillance in individuals with a CDKN2A or other high risk mutations leads to an increase of 5-year survival rate, as compared to PC in the general population. Secondary objectives are: (1) to study long-…
By performing a low-dose CT of the thorax in patients with primary spontaneous pneumothorax (PSP) the typical pulmonary abnormalities are detected related to the mutation in the folliculine gene. In this way the Birt-Hogg-Dube syndrome can be…
To get a better insight into the central conducting lymphatic system in adult volunteers with Noonan Syndrome (NS) without clinical symptoms or signs of lymphatic disease compared to NS and CardioFacioCutaan syndrome patients with severe lymphatic…
Primary Objective: To noninvasively obtain arrhythmogenic substrate mapping using ECGI in patients with polymorphic VT and/or idiopathic VF.Secondary Objectives: - To detect similar arrhythmogenic substrates in index patients of family cohorts with…
Objective: In this project we, as a collaborative network of Netherlands academic hospitals from Utrecht, Amsterdam, Rotterdam, Leiden and Groningen, propose to further optimize and validate MG-NIPD at early stages (week 8-10) of pregnancy, in order…
Primary Objective: 1: To determine the severity of respiratory problems, treatment modalities and outcome in the first year of life. Secondary Objectives:2a: To evaluate the course of respiratory problems and quality of life on long term follow-up.…
Do neonatal critically ill children aged 9-16 years have problems with visuomotor integration? If yes, which aspects of the visuomotor integration are affected and require a possible intervention?
Primary Objective: To validate the predictive value of MRI data for neurocognitive deficits and visual functioning by relating these data from newborns with unisutural craniosynostosis to the psychological and ophthalmologic test results, taken…