Publications by authors named "Rutger Jan A J Nievelstein"

Article Synopsis
  • Overweight and obesity are prevalent issues among childhood cancer survivors, affecting nearly half of those studied, with higher rates among brain tumor survivors and older women.
  • The study assessed various measures of overweight, including body mass index (BMI), waist circumference, and fat percentage, revealing that traditional BMI metrics might underestimate the problem, particularly in survivors who underwent certain treatments.
  • Key factors linked to overweight included being overweight at diagnosis, receiving cranial radiotherapy, and having growth hormone deficiency, with dual-energy X-ray absorptiometry identifying an additional 30% at risk.
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Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder.

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We present a so far unrecognized X-linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed cerebellar vermis hypoplasia and ventriculomegaly.

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