N‐terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N‐terminal acetylation complex NatA have been associated with diverse, syndromic X‐linked recessive disorders, whereas de novo missense mutations have been reported in one male and one female individual with severe intellectual disability but otherwise unspecific phenotypes. Thus, the full genetic and clinical spectrum of NAA10 deficiency is yet to be delineated. We identified three different novel and one known missense mutation in NAA10, de novo in 11 females, and due to maternal germ line mosaicism in another girl and her more severely affected and deceased brother. In vitro enzymatic assays for the novel, recurrent mutations p.(Arg83Cys) and p.(Phe128Leu) revealed reduced catalytic activity. X‐inactivation was random in five females. The core phenotype of X‐linked NAA10‐related N‐terminal‐acetyltransferase deficiency in both males and females includes developmental delay, severe intellectual disability, postnatal growth failure with severe microcephaly, and skeletal or cardiac anomalies. Genotype–phenotype correlations within and between both genders are complex and may include various factors such as location and nature of mutations, enzymatic stability and activity, and X‐inactivation in females.
Background and aims: Successful transfer of adolescent IBD patients to an adult gastroenterologist requires anticipation of a changing role for patients and their parents. Self-efficacy has been demonstrated to be important for transfer readiness. We therefore developed an IBD-specific questionnaire (the "IBD-yourself") to assess self-efficacy in adolescent IBD patients visiting a transition clinic. Our aim was to evaluate the reliability of this questionnaire, and to describe the self-efficacy level of adolescent IBD patients, and the perceived self-efficacy level according to their parents. Methods: In a cross-sectional design, 50 IBD patients (aged 14-18 years) and 40 parents completed the "IBD-yourself" questionnaire. Internal reliability was assessed by standardised Cronbach's α. Median self-efficacy scores per domain were calculated. Results: The domains of the questionnaire for adolescents showed good to excellent internal consistency, with Cronbach's α ranging from 0.64 to 0.93. The domains of the parental questionnaire had Cronbach's α ranging from 0.47 to 0.93. Median self-efficacy scores of adolescents varied from 70 to 100%. In comparison with patient's self-assessment, parents thought that their child was more A v a i l a b l e o n l i n e a t w w w . s c i e n c e d i r e c t . c o m
ScienceDirectJournal of Crohn's and Colitis (2013) 7, e375-e385 Downloaded from https://academic.oup.com/ecco-jcc/article-abstract/7/9/e375/427279 by guest on 07 June 2019 self-efficacious in knowledge of IBD and diagnostic tests, self-management of medication use, and transfer readiness. Length of time since first visit to the transition clinic was positively correlated with several domains of the questionnaire, such as independent behaviour at the outpatient clinic, and transfer readiness. Conclusion: The "IBD-yourself" questionnaire is a first step toward evaluating quality and efficacy of IBD transition programmes. Paediatric gastroenterologists should be aware that parents do not always accurately assess the self-efficacy of their child.
A six-week course of EEN is effective in newly diagnosed paediatric CD, with response rates that seem to be influenced by disease location and nutritional status, but not by type of formula. Non-adherence occurs frequently and limits the success of this treatment in everyday clinical practice.
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