Publications by authors named "Stuart Skelton"

Single missense mutations in the gene encoding the coagulation protein factor VIII give rise predominantly to non-severe hemophilia A. Despite only a single amino acid sequence difference between the replacement, therapeutic factor VIII and the patient's endogenous factor VIII, therapeutic factor VIII may still be perceived as foreign by the recipient's immune system and trigger an immune response (inhibitor). Inhibitor formation is a life-long risk for patients with non-severe hemophilia A treated with therapeutic factor VIII, but remains difficult to predict.

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Article Synopsis
  • Over 500 mutations in the F8 gene are linked to non-severe haemophilia A, with some genotypes posing a higher risk of inhibitor formation.
  • The study uses a computational tool, NetMHCII, to analyze how mutations affect antigen presentation and to identify HLA peptide binding patterns that could indicate future inhibitor risk.
  • Researchers found that many F8 genotypes (65%) are likely to have a low risk of generating the immune response needed for inhibitor production, highlighting the need to consider both F8 genotypes and individual HLA profiles for more accurate risk predictions.
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Sampling of the lower airways of the adult cystic fibrosis (CF) lung has received insufficient detailed consideration, with the importance of sampling strategies for bacteriological outcome not known. Although spontaneously expectorated sputum (SES) samples are often used for diagnostic bacteriological analysis, induced sputum (IS) methods have advantages. This study examined whether significant differences in bacterial content were detected when using a culture-independent, molecular profiling technique to analyze SES or IS samples.

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