Both ALS and FTD can result from a GGGGCC repeat expansion in the C9orf72 gene. While normally present 2-8x, in ALS/FTD patients the repeat can be expanded 100x to 4000 times.
Assessment of central airways mechanics using Magnetic Resonance Imaging (MRI) and bronchoscopy: a comparison.
CHIP-Family for young children with congenital heart disease
We are researching the effect of the multidisciplinary, psychosocial CHIP-Family intervention on wellbeing of young children with congenital heart disease and their families.
Effects and health economic aspects of enzyme therapy with Pompe disease
Fragile X Syndrome
Fragile X syndrome is the leading monogenic cause of intellectual disability and autism.
Reducing symptoms of depression and anxiety in young patients with inflammatory bowel disease (IBD) in order to improve quality of life and the clinical course of disease.
Immune responses in neurodegenerative diseases: Protection or progression?
We investigate brain immune cells (microglia) in zebrafish genetic models to gain insight in the roles of these cells in human brain diseases.
Juvenile Lichen Sclerosus
Lichen sclerosus of the vulva (VLS) is a chronic skin condition affecting women of all ages. Major symptoms are pain, pruritus and permanent loss of the architecture of the labia.
Microbiome in atopic dermatitis (AD)
The skin microbiome is the collection of micro-organisms that reside on the skin. The Staphylococcus aureus bacterium is more abundant in atopic dermatitis.
MRI of respiratory muscle dysfunction in Pompe disease
With spirometer-controlled MRI scans we evaluate the function of respiratory muscles in various stages of Pompe disease as well as the effects of enzyme replacement therapy.
Neonatal erythroderma & collodion
We investigate the characteristics and causes of neonatal erythroderma and collodion babies using a multidisciplinary national protocol with Next Generation Sequencing.
Neuro-cognitive consequences of lysosomal storage disorders
Most lysosomal storage disorders affect the central or peripheral nervous system. In this study we assess the frequencies and courses of neurologic and neuro-cognitive symptoms.
Outcome of transition of care in patients with inflammatory bowel disease
The transition of adolescents with Crohn’s disease or ulcerative colitis from pediatric to adult care can be troublesome because these two health systems differ in many aspects.
Patching therapy vs. video gaming for amblyopia therapy
Amblyopia is the commonest childhood vision disorder, affecting 3% of children. Behavioural training may be a new treatment as opposed to glasses and patching of the better eye.
Children’s long-term neuropsychological outcome after caloric restriction during the first week of critical illness.
PERFORM - Personalised Risk assessment in Febrile illness to Optimise Real-life Management across the European Union
This study aims to improve the diagnosis and management of febrile children through the development of simple diagnostic tests to discriminate bacterial and viral infection.
Primary sclerosing cholangitis in inflammatory bowel disease (IBD)
Sclerosing cholangitis is a chronic inflammatory disease that may lead to fibrosis of the intra- and/or extrahepatic bile ducts in pediatric-onset inflammatory bowel disease.
Raman spectroscopy in atopic dermatitis
Changes in skin composition of patients with atopic dermatitis examined with Raman spectroscopy.
Safetynetting for febrile children and improving parental information on serious illness
To optimize information for parents on serious childhood illness and to improve parents’ ability to recognize alarming signs for serious illness in their child.
TheSHIVER group is part of the REPEM (Research European Pediatric Emergency Medicine) network and focuses on variability of care in children with fever.
Skin lesions in Primary Immunodeficiencies (PIDs)
We strive to raise awareness of PIDs by recognizing specific skin lesions as a possible clinical symptom of PIDs.
To reduce antibiotic prescription in children suspected of pneumonia (STRAP)
This is a study using a prediction rule for children with fever that estimates the risk of pneumonia and/or bacterial infections, to guide decisions upon antibiotic prescription.
Top-down Infliximab Study in Kids with Crohn’s disease
Crohn's disease is a chronic inflammatory disease of the gastrointestinal tract. The inflammation causes abdominal pain, diarrhoea, fatigue and weight loss, among other things.
Triage identifies the most urgent patients in emergency departments and ensures that patients who need immediate medical attention are timely treated.
Validation of bi- and three-dimensional Fourier Decomposition to assess lung ventilation and perfusion compared to CT, hyperpolarized gases and contrast-enhanced MRI.
Virtual reality before day care surgery in children (VR)
We have developed a virtual reality exposure tool and are researching its effectiveness on anxiety and pain reduction in children undergoing elective day care surgery.
YP Face IT
YP Face IT is an online psychotherapeutic intervention aimed at Dutch adolescents with a visible difference.
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