349 results
The aim of the study is to understand the nutritional status of people with complex multiple disabilitiest through measurement of body composition and nutritients.The primary objective of the study is:What percentage of people with complex multiple…
The ultimate goal of this research is the clinical implementation of a non-invasive test for prenatal fetal genotyping, including fetal sex determination, using cff DNA in maternal plasma, to replace the current standard practice of invasive tests,…
Our primary aim is to develop en perfection the diagnostic accuracy of the non-invasive tests for chromosomal aberrations in maternal blood.
1. Developing novel approaches to determine the clinical significance of UVs. 2. Developing new clinical guidelines and implement them into clinical practice.
Primary Objective: Analyse the behavioural response of individuals with Down's syndrome directly after a painful dental stimulus and compare this with video-analysed behaviour.Secondary Objective(s): 1) Determine which observational scale can…
Primary, to determine whether staining of the gastric mucosa increases the number of detected (pre)malignant foci of diffuse type gastric cancer, in individuals from families with FDGC as well as dysplastic, adenomatous and early intestinal cancers…
The aim of the study is to generate a validated questionnaire to measure dysphagia in the three different stages of Huntington's disease.
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…
Cognitive testing in a structured and standardized way at a defined group of patients with cognitive dysfunction, with a shared molecular etiology .The intended objectives are:- Detailed human neurocognitive profile defining for each genetic defect…
We would like to report a case of an extra-oral manifestation of a White Sponge Nevus (WSN). The purpose of this study was to document a family spanning 6 generations with WSN. It is important to recognize to allow for appropriate genetic counseling…
To evaluate the effect of additional foot support during sitting and the effect of forward tilting of the seat surface on 1) postural adjustments during reaching and 2) the quality of reaching movement in school age children with CP.
Objectives:Medical: What is the effect of an exercise training program in children and young adults (up to 20 years of age) who have undergone treatment for ConHD (tetralogy of Fallot or Fontan procedure) on: a) aerobic fitness, b) ventricular size…
The main objective of this research is to contribute to the elimination of disparities in care between Dutch and non-Dutch kidney patients where living donation is concerned. The primary objective is evaluating the effectiveness of an intervention…
The main goal of this study is to examine the clinical applicability of the Monica AN24*, for the use of this device in the LUMC for prolonged CTG-registrations in high risk pregnancies and particularly in monitoring fetal cardiac arrhythmias. The…
The objective is to describe the nature and underlying (neuromuscular en biomechanical) factors of dysphagia in different neuromuscular diseases in relation to different consistencies of food. Identifying the contributing factors are starting points…
The primary objective of this study is to identify mutations associated with the development of a bicuspid aortic valve. To this end the study will focus on genes important for aortic valve formation. As an extension of the primary objective, a…
1) To demonstrate an elevated troponin concentration before exercise and a rise of troponin after exercise in both pre-clinical HCM mutation carriers and HCM patients with the hypertrophic phenotype, 2) To evaluate the troponin rise in relation to…
(1) Identification of novel loci and genes in which mutations are responsible for the development of inherited epileptic syndromes. (2) Establishing genotype-phenotype correlations; defining the yield of mutation screenings in specific patient…
zie bovenstaand
1. To include the patients* point of view in the characterization and description of the mucopolysaccharidoses; and to compare between the different types of mucopolysaccharidoses.2. To assess *health damage* at the moment of diagnosis, in order to…