335 results
To evaluate the role of the epithelium in the effect of CXL for treatment of progressive KC and to determine whether the epithelium should be removed or can be left intact during treatment.
First, to demonstrate whether Lanreotide attenuates progression of the renal phenotype in ADPKD patients as measured by change in rate of renal function decline and change in renal volume. Second, to demonstrate whether Lanreotide modifies…
Main: To confirm the findings of our previous, explorative study that the overall FXI plasma levels in patients with menorrhagia are lower than in controls. Secondary: To establish the prevalence of FXI mutations/polymorfisms in patients with…
(i) To compare the DBF response to capsaicin between cystinosis patients, homozygous and heterozygous for the 57-kb deletion, and matched controls.(ii) To compare the skin sensitivity response after capsaicin application between cystinosis patients,…
To gain a better insight into the genetic factors that play a role in the etiology of the thoracic aortic aneurysm with the following specific aims:1. Study of specific geneitc factos that play a role in the pathogenesis of both syndromic and non-…
1. Validation - of an independent geneset - of TLA technology as a new DNA diagnostic test for complete sequencing of selected genes.2. The search for structural chromosome changes in patients with ROW disease who where tested negative for mutations…
To investigate the effect of cholic acid supplementation on the clinical and biochemical parameters of Zellweger spectrum disorder
The main object is to evaluate the validity of a diagnostic screening package for bleeding tendency consisting of point-of-care devices when compared with the gold standard for bleeding tendency diagnosis.Other objects which will be investigated are…
The primary objective is to determine if there is an association between the presence of vertebral and/or rib anomalies and congenital malformations, aneuploidy or adverse fetal outcome, in order to assess whether detailed evaluation of the…
Primary Objective: To define a top set of genes that most reliably (r >=0.95) distinguish psoriasis from normal skin. We will define this set from differential methylation genes to indicate potential biomarkers.Secondary Objective(s):…
To elucidate the molecular mechanisms underlying renal disease that lead to chronic kidney disease. To validate pathogenic variations in functional in vivo models.
A close correlation has been demonstrated between iron absorption and the capacity of gastric juice to release food iron. At high levels of gastric pH (>3,6), negligible amounts of non-haem iron would be released from dietary components and…
This study aims to gain more insight in the sexual development of adolescent boys with ASDs.The main research question is: How do high functioning boys with ASD develop sexually? The main research question is worked out in 2 parts/1. Which sexual…
Primary objective: to evaluate the image quality between the two protocols using Signal to Noise Ratio (SNR) measurements Secondary objectives: 1) test if measurements of lung volume and central airways dimensions using MRI are related to validated…
Aim of total study:Diagnosing all components of RS in an objective mannerAim of present substudy:Increasing the reliability and decreasing the burden of the method with which glossoptosis can be determined in newborns with RS
Assessment of the cutaneous and retinal microcirculation in SCD patients and matched controls:- Long- and short-term repeatability of LSCI and NiRFI ;- Comparison of cutaneous and retinal microcirculation between SCD patients and matched healthy…
The purpose of the current study is to evaluate the difference in TICE in FHBL-patients as compared to unaffected controls, according to the previously developed stable isotope method with minor modifications (METC 10/092). This way we can prove the…
1. To identify presymptomatic and symptomatic profiles including (early) disease stages and early biomarkers of disease progression and to elucidate pathophysiological mechanisms, we will investigate RVCL patients at different ages (both symptomatic…
1. We will recruit 6 probands who experience cerebellar movement disorders with spinocerebellar ataxia features such as uncoordinated movement (i.e. asthenia, asynergy, delayed reaction time and dyschronometria) in limbs and organs such as the eyes…
1) To investigate the underlying mechanisms of the variable ADH phenotypes in two extreme ADH populations. - Genetically homozygous patients with a phenotype resembling the phenotype encountered in heterozygous ADH patients. - Genetically…