The initial presentation varies widely in OAD and UCD patients. This is a challenge for rapid diagnosis and early start of treatment. Patients with a sepsis-like neonatal crisis and those with late-onset of symptoms are both at risk of delayed or missed diagnosis.

No abstract

Interactions between environmental factors and predisposing genes could be involved in the development of coeliac disease (CD). This study has assessed whether milk-feeding type and HLA-genotype influence the intestinal microbiota composition of infants with a family history of CD. The study included 164 healthy newborns, with at least one first-degree relative with CD, classified according to their HLA-DQ genotype by PCR-SSP DQB1 and DQA1 typing. Faecal microbiota was analysed by quantitative PCR at 7 days, and at 1 and 4 months of age. Significant interactions between milk-feeding type and HLA-DQ genotype on bacterial numbers were not detected by applying a linear mixed-model analysis for repeated measures. In the whole population, breast-feeding promoted colonization of C. leptum group, B. longum and B. breve, while formula-feeding promoted that of Bacteroides fragilis group, C. coccoides-E. rectale group, E. coli and B. lactis. Moreover, increased numbers of B. fragilis group and Staphylococcus spp., and reduced numbers of Bifidobacterium spp. and B. longum were detected in infants with increased genetic risk of developing CD. Analyses within subgroups of either breast-fed or formula-fed infants indicated that in both cases increased risk of CD was associated with lower numbers of B. longum and/or Bifidobacterium spp. In addition, in breast-fed infants the increased genetic risk of developing CD was associated with increased C. leptum group numbers, while in formula-fed infants it was associated with increased Staphylococcus and B. fragilis group numbers. Overall, milk-feeding type in conjunction with HLA-DQ genotype play a role in establishing infants' gut microbiota; moreover, breast-feeding reduced the genotype-related differences in microbiota composition, which could partly explain the protective role attributed to breast milk in this disorder.

These data indicate that the addition of GOS (5 g/L) to a follow-on formula positively influences the bifidobacteria flora and the stool consistency in infants during the supplementation period at weaning. No local or systemic side effects were recorded.

A systematic literature search identified studies validating the methodology used for measuring the usual dietary intake in infants, children and adolescents. The quality of each validation study selected was assessed using a European micronutrient Recommendations Aligned-developed scoring system. The validation studies were categorised according to whether the study used a reference method that reflected short-term intake (, 7 d), long-term intake ($7 d) or used biomarkers. A correlation coefficient for each nutrient was calculated from the mean of the correlation coefficients from each study weighted by the quality of the study. Thirty-two articles were included in the present review: validation studies from infants (1-23 months); child preschool (2-5 years); children (6-12 years); adolescents (13-18 years). Validation of FFQ studies in infants and preschool children using a reference method that reflected short-term intake showed good correlations for niacin, thiamin, vitamins B 6 , D, C, E, riboflavin, Ca, K, Mg, Fe and Zn (with correlations ranging from 0·55 for vitamin E to 0·69 for niacin).Regarding the reference method reflecting short-term intake in children and adolescents, good correlations were seen only for vitamin C (r 0·61) and Ca (r 0·51). Using serum levels of micronutrient demonstrated that the 3 d weighed dietary records was superior to the FFQ as a tool to validate micronutrient intakes. Including supplement users generally improved the correlations between micronutrient intakes estimated by any of the dietary intake methods and respective biochemical indices.