25 results
To establish whether or not DPD deficient patients suffer from an altered white blood cell homeostasis or function, in particular of B or T lymphocytes.
To identify novel childhood osteosarcoma predisposing genes.
Investigating the molecular and phenotypic differences of iPSCs established from skin fibroblasts of discordant MZ BWS twin pairs.
The purpose of this study is to find out which common problems occur in the HME patient population. Furthermore the study will investigate which factors are associated with the observed problems. This is barely investigated in the current literature…
In this study we use a unique paradigm which can be used to examine both high-level (serial dependence) effects as low-level (adaptation) effects. By doing so we hope to resolve the discrepancy in the previous findings. We expect that low-level…
Study I aims to explore dysregulation of biological stress systems among traumatized youths with and without ID in residential care, and compare them with a healthy control group. Study II aims to conduct a randomized controlled trial (RCT) to test…
Here we will generate iPS cells from patients with genetic neurodevelopmental disorders and (related) healthy control individuals, that can be used to generate in vitro disease models to further study the mechanisms behind these disorders.
Hypothesis: Early life stress is associated with increased caloric intake and subsequent obesity in later life, which may be mediated by (a combination of) decreased neural cognitive control over food intake, decreased neural food reward…
The aim of the FLOW project is to unravel immunological mechanisms driving inhibitor development in NSHA patients and HA carriers. We will focus on the association between (1) surgery , (2) intensive treatment, and (3) immunological biomarkers and…
Primary Objective: - To determine the rate of functional vestibular abnormalities in 22q11DSSecondary Objective: - To determine the rate of anatomical malformations of the inner ear in 22q11DS- To study the relation between vestibular functioning…
To validate a questionnaire assessing music-listening behavior among children and adolescents aged 12 to 18 years.
1. To further unravel biochemical abnormalities in SLS patients2. To study neuro-retinal changes over time to learn more about involved neurons and pathomechanism of ophthalmologic abnormalities in SLS patients 3. To study quality of life and daily…
First, to compare MLP children with FT and with EP peers regarding intelligence at age 14 to 15 years. Second, to compare MLP children with FT and with EP peers regarding health, health-related behaviors, growth measures, blood pressure, pubertal…
The objective of this study is to investigate the association of the residual galactose oxidation capacity (measured in vivo and in vitro) and of galactosylation abnormalities with outcome in patients with galactosemia.
Primary objective is to design a non-invasive, bedside monitoring strategy for early detection of renal graft hypoperfusion after pediatric kidney transplantation, using transabdominal ultrasonography and biomarker surveillance in serum and urine.…
1. Detection of the gene causing Parry-Romberg syndrome. 2. Study of molecular and cellular mechanisms leading to the various manifestations of Parry-Romberg syndrome.
Achieving more detailed information about the possible auto-immune process that underlies narcolepsy by:(1) Assessing differences in immune composition between peripheral blood samples of healthy controls (n=30) and type 1 narcolepsy patients (n=30…
1. to describe NVC findings in patients with pediatric (systemic) auto-immune/-inflammatory diseases:- Juvenile systemic/localized sclerosis (jSSc/lSc)- Childhood-onset systemic lupus erythematosus (cSLE)- Juvenile dermatomyositis (JDM)- Juvenile…
In this study, the genetic risk factors and time dependent risk factors for alloimmunization will be analyzed. Furthermore, the role of the innate and adaptive immune system on allo-antibody formation in SCD patients will be elucidated.
Two main research questions:- improving the knowledge of the pathofysiologic mechanisms of immune tolerance induction (ITI)- determining what type of factor VIII product (based on pathophysiology and an in-vitro model of ITI) is the most effective…