A5102720015- Child Abuse and Trauma
- Neonatal and fetal brain pathology
- Neonatal Respiratory Health Research
- Lysosomal Storage Disorders Research
- Health Systems, Economic Evaluations, Quality of Life
- Neurogenetic and Muscular Disorders Research
- Hemoglobinopathies and Related Disorders
- Appendicitis Diagnosis and Management
- Metabolism and Genetic Disorders
- Emergency and Acute Care Studies
- Pharmaceutical studies and practices
- Intestinal Malrotation and Obstruction Disorders
- Childhood Cancer Survivors' Quality of Life
- Dialysis and Renal Disease Management
- Intraperitoneal and Appendiceal Malignancies
- Sarcoma Diagnosis and Treatment
- Inflammatory Bowel Disease
- Cerebral Palsy and Movement Disorders
- Mitochondrial Function and Pathology
- Infant Development and Preterm Care
- Adolescent and Pediatric Healthcare
- Cardiovascular Function and Risk Factors
- Meta-analysis and systematic reviews
- Homicide, Infanticide, and Child Abuse
- Statistical Methods in Clinical Trials
Amsterdam UMC Location University of Amsterdam
2011-2021
Emma Kinderziekenhuis
2011-2021
University of Amsterdam
2012-2021
Amsterdam University Medical Centers
2019-2021
Federatie Medisch Specialisten
2021
University Medical Center Utrecht
2019
Public Health Service of Amsterdam
2014
Boston Children's Hospital
2010-2013
Amsterdam Public Health
2010
Abstract Background Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of glycosaminoglycans causing progressive multi-organ dysfunction. Its clinical spectrum very broad and varies from severe Hurler phenotype I-H) which characterized by early central nervous system (CNS) involvement to attenuated Scheie I-S) with no CNS involvement. Indication, optimal timing, safety efficacy two available treatment options for MPS I, enzyme replacement...
Low prevalence, lack of knowledge about the disease course, and phenotype heterogeneity hamper development drugs for rare diseases. Rare registries (RDRs) can be helpful by playing a role in understanding course disease, providing information necessary clinical trial design, if designed maintained properly. We describe potential applications RDR what type should incorporated to support design trials process drug development, based on broad inventory registry experience. evaluated two...
To predict early nasal continuous positive airway pressure failure within the first 2 h after birth in preterm infants.Patient and respiratory support variables significantly associated with 72 were identified a cohort of infants <30 weeks gestation. Using multivariable logistic regression analysis, risk estimates for calculated.From 182 included, 62(34%) failed pressure. Birth weight ≤800 g, male gender fraction inspired oxygen >0.25 at 1 age failure. Combining these model provided minimal...
Background: The Action Research Arm (ARA) test is a performance of upper extremity motor function which consists 19 items divided into four hierarchical subtests. This multidimensionality has not yet been tested empirically. Objective: To investigate the dimensionality ARA test. Design: Cross-sectional study involving sample 63 chronic stroke patients. Methods: A Mokken scale analysis was performed. Results: revealed one strong unidimensional containing all items, scalability coefficient H...
In the Netherlands, perinatal asphyxia (severe oxygen shortage) necessitating newborn resuscitation occurs in at least 200 of 180-185.000 newly born infants per year. International randomized controlled trials have demonstrated an improved neurological outcome with therapeutic hypothermia. During hypothermia neonates receive sedative, analgesic, anti-epileptic and antibiotic drugs. So far little information is available how pharmacokinetics (PK) pharmacodynamics (PD) these drugs are...
The Respiratory Distress Assessment Instrument (RDAI) and Change Score (RACS) are frequently used in bronchiolitis clinical trials, but evidence is limited on their measurement properties. We investigated validity, reliability, responsiveness.We included data from up to 1765 infants with enrolled 2 studies conducted pediatric emergency departments. assessed RDAI construct validity by testing hypotheses of associations physiologic measures (respiratory rate, oxygen saturation) constructs...
Abstract Early diagnosis and dietary treatment do not prevent long-term complications, which mostly affect the central nervous system in classical galactosemia patients. The clinical outcome of patients is highly variable, there an urgent need for prognostic biomarkers. aim this study was first to increase knowledge on natural history by studying a cohort with varying geno- phenotypes second association between outcomes two possible In addition, abnormalities brain MRI investigated....
Abstract There is an increasing need for suitable tools to evaluate body composition in paediatrics. The Body Composition Monitor (BCM) shows promise as a method, but reference values children are lacking. Twenty were included and measured twice by 4 different raters asses inter- intra-rater reproducibility of the BCM. Reliability was assessed using Bland-Altman method calculating intraclass correlation coefficients (ICCs). ICCs high (≥ 0.97) all parameters BCM inter-rater 0.98) except...
The carotid-femoral pulse wave velocity (PWVcf) is used as an indicator of arterial stiffness. It often measured using applanation tonometry, for instance with the SphygmoCor. In young children, this method difficult to perform. Therefore, techniques are needed that less dependent on patient compliance. Vicorder device uses oscillometric technique measure PWVcf and thought be time consuming operator skills.To compare by extensively (SphygmoCor) in adults initially.Thirty-eight healthy...
The design and conduct of clinical studies to evaluate the effects novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing rarity these disorders, multinational are often needed recruit enough patients provide meaningful data statistical power. This can make consistent collection reliable across study sites difficult. To address challenges, an International MPS Consensus Conference for Cognitive Endpoints was...
<b><i>Introduction:</i></b> In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the intake and blood concentrations of micronutrients essential fatty acids (FA), bone mineral density (BMD) fracture history in patients on long-term treatment. <b><i>Methods:</i></b> Sixty early diagnosed Dutch (aged 1-39...
Background: Phenobarbital and midazolam are commonly used drugs in (near-)term neonates treated with therapeutic hypothermia for hypoxic-ischaemic encephalopathy, sedation, and/or as anti-epileptic drug. is an inducer of cytochrome P450 (CYP) 3A, while a CYP3A substrate. Therefore, co-treatment phenobarbital might impact clearance. Objectives: To assess pharmacokinetics clinical effectiveness asphyxiated to develop dosing guidelines. Methods: Data were collected the prospective multicentre...
Neurological dysfunction represents a significant clinical component of many the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment neuropsychological function is essential to gain greater understanding precise natural history these conditions design effective trials evaluate impact therapies on brain. In 2017, an International Consensus Panel published recommendations for best practice in conduct studies investigating effects cognitive adaptive...