Genetic analysis of Italian patients with congenital tufting enteropathy

BACKGROUND: Congenital tufting enteropathy (CTE), an inherited autosomal recessive rare disease, is a severe diarrhea of infancy which is clinically characterized by absence of infl ammation and presence of intestinal villous atrophy. Mutations in the EpCAM gene were identified to cause CTE. Recent cases of syndromic tufting enteropathy harboring the SPINT2 (19q13.2) mutation were described. METHODS: Four CTE Italian patients were clinically and immunohistochemically characterized. Direct DNA sequencing of EpCAM and SPINT2 genes was performed. RESULTS: All patients were of Italian origin. Three different mutations were detected (p.Asp219Metfs*15, Tyr186Phefs*6 and p.Ile146Asn) in the EpCAM gene; one of them is novel (p.Ile146Asn). Two patients (P1 and P2) showed compound heterozygosity revealing two mutations in separate alleles. A third patient (P3) was heterozygous for only one novel EpCAM missense mutation (p.Ile146Asn). In a syndromic patient (P4), no deleterious EpCAM mutation was found. Additional SPINT2 mutational analysis was performed. P4 showed a homozygous SPINT2 mutation (p.Y163C). No SPINT2 mutation was found in P3. CLDN7 was also evaluated as a candidate gene by mutational screening in P3 but no mutation was identifi ed. CONCLUSIONS: This study presented a molecular characterization of CTE Italian patients, and identified three mutations in the EpCAM gene and one in the SPINT2 gene. One of EpCAM mutations was novel, therefore increasing the mutational spectrum of allelic variants of the EpCAM gene. Molecular analysis of the SPINT2 gene also allowed us to identify a SPINT2 substitution mutation (c.488A>G) recentl

Increased concentrations of eosinophilic cationic protein in the whole gut lavage fluid from children with inflammatory bowel disease.

Background: Eosinophils may be involved in the pathogenesis of inflammation in inflammatory bowel disease. The purpose of this study was to verify whether concentrations of eosinophilic cationic protein in gut lavage fluid from children with inflammatory bowel disease correlate with clinical and laboratory indexes of disease activity. Methods: Twenty-three children with Crohn's disease, 14 with ulcerative colitis, and 22 age-matched control subjects entered the study. Radioimmunoassay and sandwich enzyme-linked immunosorbent assay techniques were used to measure eosinophilic cationic protein, total immunoglobulin G and interleukin-1β, respectively. Results: Gut lavage eosinophilic cationic protein levels were significantly (p < 0.005) higher in patients with Crohn's disease and ulcerative colitis than in control subjects. Intestinal eosinophilic cationic protein levels decreased in three of four children with Crohn's disease who were fed an elemental diet. There was a significant (p < 0.001) correlation between eosinophilic cationic protein concentrations and immunoglobulin G and interleukin-1 β levels in gut lavage fluid. Conclusions: Elevated intestinal eosinophilic cationic protein levels in inflammatory bowel disease suggest that eosinophils are involved in the gastrointestinal inflammation in this disease. Intestinal eosinophilic cationic protein concentration is another marker with which to discriminate between active and inactive inflammatory bowel disease

Levels of inflammatory cytokines from peripheral blood mononuclear cells of children with cow’s milk protein allergy

Aim: The aim of the study was to investigate the level of cytokines in cultures of cow’s milk protein- stimulated peripheral blood mononuclear cells of patients with cow’s milk protein allergy. Material and Methods: Eleven children with cow’s milk protein allergy and 11 non-allergic controls were studied. Their peripheral blood mononuclear cells were cultured alone and in the presence of cow’s milk α-lactalbumin; β-lactoglobulin; αS 1, αS 2, β, and κ-casein fraction mixtures; and a cow’s protein mixture from whole milk. Production of cytokines, tumor necrosis factor-α, interleukin-10, and interleukin-12 were determined in culture supernatants. Results: In cow’s milk protein-stimulated peripheral blood mononuclear cell cultures of children with cow’s milk protein allergy, tumor necrosis factor-α, interleukin-10, and interleukin-12 production was significantly higher than in non-allergic controls (p<0.05). No difference in cytokine production was found between cultures obtained from unstimulated peripheral blood mononuclear cell cultures of both cow’s milk protein allergy and non-allergic controls. Conclusions: The findings of this preliminary study align with data from the literature suggesting that the investigation of tumor necrosis factor-α, interleukin-10, and interleukin-12 in cow’s milk protein-stimulated peripheral blood mononuclear cell cultures of children may be taken in further consideration to explore whether they might have a predictive role for cow’s milk protein allergy. Further studies are therefore needed to extensively investigate this issue

Caffeine consumption in adolescents: from coffee to energy drinks and back again

In recent years the interest of pediatricians, parents and legislators on caffeine consumption in children has increased. As caffeine has several negative effects on the pediatric population, caffeine intake should be always discouraged in all children. Particularly, caffeine consumption should not exceed 45-85 mg/day in children 6-12 years old and 2.5 mg/kg/day (up to a maximum of 100 mg/day) in subjects older than 12 years. Of course, the daily intake of caffeine should consider all sources of this substance, mainly coffee, Soft Drinks (SD) and Energy Drinks (ED). Since no data are currently available on caffeine intake among Italian children and adolescents this study aimed at: 1) investigating the prevalence of pediatric subjects consuming caffeine on a daily basis; 2) estimating the amount of caffeine ingested; 3) identifying which beverage is the main source of caffeine