26 results
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 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…
Idenification of new Hirschsprung's disease associated genes.
The primary objective is to determine if echocardiography in combination with plasma biomarkers can be used as a potential predictor for pulmonary hypertension. The secondary objectives are assessment of a potential correlation between…
The aim of the present study is to identify genes associated with functional constipation in a homogeneous subgroup of children responding to sacral neuromodulation by performing whole exome sequencing in both children and their parents and to…
To identify chromosomal regions associated with the GERD-phenotype in a large multigenerational family with multiple affected members. Subsequently these regions will be sequenced to detect causative gene(s). The second aim is to describe the…
The primary objective to our study is assessing functional outcome, quality of life, and genetic mutations in patients with a cloacal malformation. Functional outcome:- Colorectal functiono Objective: assessing colorectal function through the use of…
1) To identify chromosomal regions associated with the EoE-phenotype in a family with multiple affected family members. Subsequently these regions will be sequenced to detect causative gene(s).2) To describe the clinical characteristics of EoE-…
Primary objective of this study is the identification of familial germline mutations in SPS. Secondary objectives are to get a better insight in the molecular pathway of SPS and associated colorectal carcinoma, to discriminate those family members…
1. To assess the prevalence of structural, and dysmorphological abnormalities in a cohort of patients with gastroschisis.2. To identify possible candidate genes for gastroschisis by analysing the genes involved in copy number abnormalities in…
To prospectively compare NBI with HRE for the detection and differentiation of polyps in HPS in a large multicentre HPS cohort (n~125).
Primary objectives1. What is the pulmonary function and exercise tolerance in children born with esophageal atresia at the age of 8-18 years (group I), determined by spirometry, measurement of lung volumes and a maximal exercise test. 2. What is the…
The aim of this study is to prospectively assess the occurrence of extra-intestinal manifestations in patients with MAP.
Objective: Two issues will be addressed:i) does pan-colonic chromoendoscopy improve the diagnostic yield of colonic polyps (and in particular flat lesions) as compared to conventional colonoscopy?ii) does pan-colonic chomoendoscopy combined with…
Evaluation of long-term complaints and problems on medical, surgical, psychological, social-emotional, conditional and motoric area in patients with one or multiple congenital malformations. More knowledge on long-term morbidity will lead to better…
The aims of this study are to assess the additional value of NBI in comparison to white-light endoscopy (WLE) for the detection and classification of HPs, SAs, MPs and adenomas in patients with HPS.
To identify new genetic mutations that contribute to the development of Hirschsprung*s disease
We aim to recognise potential genetic modifiers for mutations in PMS2. This will be approached through comparing a selection of CRC-related genes in the exome of members of a PMS2 family who differ in age of onset and severity of disease.
The overall aim of this observational prospective study is to evaluate the association between a) the trajectory of cerebral oxygenation, activity and perfusion as evaluated by NIRS, aEEG, Zonare Doppler Ultrasound and Cytocam-IDF during and 24…
The primary objective of the CATCA-study is to develop a cfDNA based screening/surveillance tool for colorectal adenoma and cancer, both in the setting of the national CRC screening program and in the surveillance of LS carriers. Additionally, we…