Objectives: The aim of this cross-sectional study was to assess the vitamin D status and muscle function in children with NF1 compared with their unaffected siblings. Methods: NF1 children between 5 and 18 years of age and who had at least one unaffected sibling were identified. Serum concentrations of 25-hydroxyvitamin D (25(OH) D), calcium, inorganic phosphate, alkaline phosphate, parathyroid hormone and 1,25-dihydroxyvitamin D were measured. The Leonardo Mechanography Ground Reaction Force Platform (GRFP) was used to measure EFI, jump power, force and height. Results: There was no significant difference in 25(OH) D between NF1 subjects and unaffected siblings. Relative jump power and force were found to be significantly different. The adjusted means (95% confidence limits) of non-NF1 and NF1 children for relative jump power (W/kg), controlling for body mass and age, were 37.31 (34.14, 40.49) and 32.51 (29.34, 35.68), respectively (P=0.054); and force (N/kg), controlling for body mass, age and gender, were 25.79 (24.28, 27.30) and 21.12 (19.61, 22.63), respectively (P<0.0001). Jumping parameters were not related to serum 25(OH) D. Conclusions: There was no significant relationship between vitamin D status and NF1 status in children. NF1 children had significantly impaired jumping power and force, when compared to their unaffected siblings.

SummaryBackgroundAllergic disease has been associated with altered intestinal microbiota. Therefore, probiotics have been suggested as a potential treatment for eczema.ObjectiveWe investigated whether dietary supplementation of infants with eczema at age 3–6 months with Lactobacillus paracasei CNCM I‐2116 or Bifidobacterium lactis CNCM I‐3446 had a treatment effect or altered allergic disease progression.MethodsPrimary outcome included eczema severity (SCORing Atopic Dermatitis, SCORAD) 3 months post‐randomization. Secondary: SCORAD (other visits); infant dermatitis quality of life (IDQoL); gastrointestinal permeability; urinary eosinophilic protein X; allergen‐sensitization; allergic symptoms (age 12, 18, 36 months). A total of 208 infants aged 3–6 months with physician‐diagnosed eczema were recruited; 137/208 (SCORAD≥10, consuming ≥200 mL standard formula/day) were randomized to daily supplements containing L. paracasei or B. lactis or placebo for a 3‐month period, while receiving extensively hydrolysed whey‐formula (dairy‐free diet). There were two open observational groups, one group exclusively breastfed (n = 22) and the other, standard formula‐fed (n = 49). Trial number: ISRCTN41490500.ResultsEczema severity decreased significantly over time in all groups. No significant difference was observed between randomized groups after 12‐week treatment‐period (SCORAD‐score pre‐/post‐intervention: B. lactis 25.9 [95% CI: 22.8–29.2] to 12.8 [9.4–16.6]; L. paracasei 25.4 [22.1–29] to 12.5 [9.2–16.4]; placebo 26.9 [23.4–30.6] to 11.8 [9.6–14.3]; P = 0.7). Results were similar when analysis was controlled for allergen‐sensitization, or when only sensitized infants were analysed. No differences were found for secondary outcomes. No difference was observed in SCORAD‐score between randomized and observational groups.Conclusion and Clinical RelevanceWe found no benefit from supplementation with B. lactis or L. paracasei in the treatment of eczema, when given as an adjunct to basic topical treatment, and no effect on the progression of allergic disease from age 1 to 3 years.

RATIONALE: Gastrointestinal (GI) dysfunction has been implicated as a contributing factor in atopic dermatitis (AD) and has been reported in children with AD and food allergies. We investigated if infants with AD have different GI-permeability compared to healthy infants and if there are contributing factors associated with abnormal permeability. METHODS: Small intestinal permeability to Lactulose (L) and Mannitol (M) was investigated in 190 infants (n=160 AD, n=30 healthy) aged 3-6 months. Test protocol: 3-hour-fast, 50ml L/M test-drink (5g L, 1g M), urine collected after at ≥75 min. Urinary Lactulose and Mannitol excretion were analysed by high performance liquid chromatography; the L/M excretion ratio calculated. Serum specific IgE was measured, eczema severity scored by SCORAD Index. RESULTS: 112/190 (59%; 93 AD, 19 healthy) infants completed as per test-protocol. Infants with AD had significantly higher L/M-ratios than healthy infants (GM 0.15 [95%CI 0.13-0.17] vs. GM 0.08 [0.06-0.10]; p<0.001). No association of L/M-ratio and family history of allergic disease, parental history of eczema or with gastrointestinal symptoms (vomiting or colic) was found. Eczema severity (SCORAD Index) and L/M ratio did not correlate. Amongst children with AD no association of L/M-ratio with sensitisation to food or inhalant allergens was found. 6/112 infants had a history of food allergy, their permeability was not significantly different. CONCLUSIONS: Infants with AD aged 3-6 months have significantly higher GI permeability than healthy infants. The abnormal permeability is independent of sensitisation or gastrointestinal symptoms. This is in contrast to previous studies and deserves further exploration

RATIONALE: Gastrointestinal (GI) inflammation has been implicated as a contributing factor in atopic dermatitis (AD) and has been reported in children with food allergies and AD. The role of faecal EPX in investigating and monitoring gastrointestinal inflammation associated with AD was studied. METHODS: Infants aged 3-6 months enrolled: AD-severity scored (SCORAD-Index), serum specific IgE, gastrointestinal permeability (Lactulose/Mannitol test) measured. Stool samples were collected from 239 infants (n=203 AD, n=36 healthy); extracts for f-EPX analysis were prepared as previously described (Peterson et al. 2002). Faecal-EPX was measured by UniCAP® (Pharmacia Diagnostics AB, Sweden). Data were log-transformed, results presented as geometric mean (GM) with 95% confidence intervals (95%CI). RESULTS: F-EPX levels significantly higher in infants with AD compared to healthy controls (GM 2506 ng/g [2146-2926] vs. 1635 ng/g [1193-2241]; p=0.032). F-EPX did not correlate with AD-severity (SCORAD-score). Sensitisation to food allergens was significantly associated with higher f-EPX levels (Sensitised 3200ng/g [1960-6463] vs. not sensitised 2050 ng/g [914-4725], p=0.021) and specific IgE levels to egg allergen correlated with f-EPX levels (R=0.26; p=0.005). Infants (AD or healthy) with normal gastrointestinal permeability had significantly lower f-EPX levels compared to those with increased permeability (normal permeability: 1252 ng/g [775-2034] vs. increased permeability 2409 ng/g [1305-5570]; p=0.012). CONCLUSIONS: Faecal EPX is high in infants with AD, sensitised infants and in infants with increased gastrointestinal permeability. This suggests increased eosinophilic inflammation in the gastrointestinal tract. F-EPX may be useful in monitoring the progression of gastrointestinal inflammation in these infants and further our understanding of underlying pathophysiological processes