Publications by authors named "S Rubak"

Article Synopsis
  • - The growth and development of bones are controlled by bone morphogenetic proteins (BMPs), which are linked to various skeletal disorders, but BMP5 has not previously been connected to human skeletal malformations.
  • - A patient with two loss-of-function variants of BMP5 was identified, presenting a syndromic phenotype that includes skeletal dysostosis, physical abnormalities, and heart issues.
  • - The study suggests a novel association between BMP5 variants and various developmental anomalies affecting the ears, heart, and skeleton, enhancing our understanding of BMP5's role in human development.
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Background: Immune-based therapy targeting immunoglobulin E (IgE), anti-IgE treatment, has emerged as an adjunct treatment for children with severe allergic asthma. After start of anti-IgE treatment, an effect of the treatment cannot be monitored by Total-IgE, because current methods measure both bound and free IgE molecules. Basophil activation test may be very useful for monitoring anti-IgE treatment efficacy.

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Severe asthma in children carries an unacceptable treatment burden, yet its rarity means clinical experience in treating it is limited, even among specialists. Practical guidance is needed to support clinical decision-making to optimize treatment for children with this condition.This modified Delphi convened 16 paediatric pulmonologists and allergologists from northern Europe, all experienced in treating children with severe asthma.

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Background: Cystic fibrosis (CF) lung disease starts in infancy and can be assessed for structural lung abnormalities using computed tomography or magnetic resonance scans, or for lung function impairment using multiple breath washout (MBW). However, in infancy these two methods are not well correlated. Trajectories of CF lung disease assessed by MBW in infants and toddlers remain poorly described, which is why we aimed to 1) describe the trajectory of lung function, 2) explore risk factors for progression and 3) explore the real-life effect of lumacaftor/ivacaftor.

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