64 results
the aim of the current research project is to investigate the effect of the mirror box illusion on movement performance, neuromuscular activation and proprioception in children with SHCP. The following objectives are: to determine the effect of the…
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…
the objective of the current study is to evaluate the safety and efficacy of enzyme therapy in the Dutch population of patients with MPS I, II and VI; to compare this to the natural course of these diseases; to make an inventory of the direct and…
1. The effect of Losartan on the joint excursions and the Hardening of the skin in a patient with SSS.2. Gain insight in the pathogenesis of SSS3. Gain insight in the functional effect of Losartan in SSS.
2.1 Primary Objectives: 1) To test the feasibility of the six minute assisted leg and arm cycling test in patients aged 6-18 years with Duchenne muscular dystrophy (DMD), Beckers muscular dystrophy (BMD), Limb Girdle muscular dystrophy (LGMD),…
The aim of this study is to determine the feasibility and energy expenditure of adults with a spastic bilateral CP playing Wii-Sports.
- To gather long-term data on the safety and tolerability of idebenone inFriedreich*s Ataxia- To explore the effect of idebenone after longer term administration onneurological symptoms and signs as assessed by the InternationalCooperative Ataxia…
The purpose of this study is to compare two different braces in idiopatic scoliosis, by means of body brace interface pressure measurements and conventional spinal x-rays (anterior-posterior).
This study will consist of two parts. In the primary observational part we will assess kinematic and kinetic walking patterns in Duchenne Muscular Dystrophy. Goal is to asses the correlation between progressive contractures and gait patterns. This…
•To characterize the natural history and progression of DMD to help inform the design of future studies•To capture biomarkers of safety and disease progression•To provide comparative data for the development of rare exons for which formal controlled…
1. Detection of the gene causing Primrose syndrome. 2. Study of molecular and cellular mechanisms leading to the various manifestations of Primrose syndrome.3. Increase our understanding of regulation of heterotopic human calcium depositions
In one FOA family we have detected a deleterious mutation in a compelling gene which co-segregates with the FOA phenotype in the family. This mutation is, therefore, is likely to be causal to the early onset OA. The objective of the study is:a) To…
The goal of this study is to answer the following questions:1. Is the chance of detecting mtDNA mutations in blood or urine sediment as high as in a (much more invasive) skeletal muscle biopsy sample?2. What is the prevalence of renal failure in…
The objectives of this study are to gain more insight in the efficacy of splinting therapy for correction of the anatomy and answering the followig questions:1.What are the effects of conservative splinting therapy in children with congenital hand…
Objective of the study is to evaluate the long term results of the interventions of the above mentioned deformities.
To investigate the effect of different spinal mechanical loading conditions on (pre-existent) rotation in the normal nonscoliotic human spine in vivo.
To evaluate the two procedures for lengthening of the mandible.
a. analysis of the usefulness of new molecular biological techniques in the diagnostic process of short stature, especially the detection of small chromosomal anomalies.b. identification of genetic factors causing short stature or influencing the…
Primary Objective: To determine the prevalence of endo- and extranasal deformities, problems with nasal functioning and satisfaction with nasal appearance in patients with TCS.Secondary Objective: To adjust and improve the treatment of patients with…
- To determine the long-term results of Salter pelvic osteotomies.- To determine the differences in outcome between an open reduction at a relatively young age and an open reduction at the time of the pelvic osteotomy.