42 research outputs found
Birth weight, feeding practices and pancreatic enzyme replacement therapy (PERT) in infants diagnosed with cystic fibrosis by newborn screening – 10 years experience
Get PDF373* Respiratory exacerbations in childhood associated with compound heterozygote CFTR genotype ΔF508/R117H on a background of 7T polythymidine tract at intron 8
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Cystic fibrosis co-existing with trisomy 21
Get PDFAbstractPrevious reports of children with co-existence of cystic fibrosis and full trisomy 21 suggest a very poor prognosis, with the majority of cases dying in infancy and the oldest reported survivor being 6years of age. We report the case of a young man with genetically confirmed trisomy 21 and homozygous for the F508del cystic fibrosis mutation. Despite the diagnosis of cystic fibrosis being delayed until the age of 2years he has transitioned to adult services and is now 25years of age. Currently he has poor lung function and a continuous ambulatory oxygen requirement
Adherence to nebulised therapies does not improve during school holidays for children with CF
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Birth weight, feeding practices and pancreatic enzyme replacement therapy (PERT) in infants diagnosed with cystic fibrosis by newborn screening – 10 years experience
No full text373* Respiratory exacerbations in childhood associated with compound heterozygote CFTR genotype ΔF508/R117H on a background of 7T polythymidine tract at intron 8
No full text
