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Celiac disease is a systemic immune-mediated disorder caused by the ingestion of gluten in genetically susceptible persons. It is the result of the interplay between genetic and environmental factors in a model of a complex multifactorial disease. It has been hypothesized that early infant nutrition, intestinal infections, intestinal microbiota, use of antibiotics, and other drugs can all represent possible triggers of the switch to an abnormal immune response to gluten. Two recent randomized controlled trials have been performed to clarify the relationship between early infant nutrition and the risk of celiac disease. Both trials showed that timing of gluten introduction does not modify the risk of celiac disease, and that breastfeeding duration or gluten introduction during breastfeeding have no effect on the risk of celiac disease. Further studies are needed to explore other environmental factors for primary prevention of celiac disease.

Background and Aims:Inflammatory bowel disease (IBD) is a typical polygenic disorder and less frequently shows a monogenic origin. Furthermore, IBD can originate in the context of specific genetic syndromes associated with a risk of autoimmune disorders. We aimed to systematically evaluate the prevalence of IBD in specific genetic syndromes and to review the clinical characteristics of the published cases.Methods:According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, studies describing patients with IBD and a genetic syndrome and/or studies indicating the prevalence or incidence of IBD in subjects with a genetic syndrome were included.Results:Forty-six studies describing a total of 67 cases of IBD in six genetic syndromes and two personally assessed unpublished cases were included in the review. The majority of cases were associated with Turner syndrome (TS) (38 cases), Down syndrome (DS) (18 cases) and neurofibromatosis type 1 (NF1) (8 cases). Sporadic cases were described in DiGeorge syndrome (2), Kabuki syndrome (2), and Williams syndrome (1). The prevalence of IBD ranged from 0.67 to 4% in TS and from 0.2 to 1.57% in DS. The incidence of IBD was increased in TS and DS compared to the general population. Eight cases of IBD in TS had a severe/lethal course, many of which described before the year 2000. Two IBD cases in DS were particularly severe.Conclusion:Evidence of a greater prevalence of IBD is accumulating in TS, DS, and NF1. Management of IBD in patients with these genetic conditions should consider the presence of comorbidities and possible drug toxicities.Systematic Review Registration: PROSPERO, identifier: CRD42021249820

Background Oxidative stress takes part in the pathogenesis of inflammatory bowel disease (IBD). The OxIBDiet (NCT04513015) is a multicentre ongoing project designed to evaluate oxidative status of IBD children and adults and to estimate the effects of an antioxidant diet in a subgroup of IBD patients. Methods The total antioxidant capacity, measured through the ferric reducing ability of plasma (FRAP, µmol/equivalent FeSO4) and oxygen radical absorbance capacity (ORAC, plasma trolox equivalents), lipid peroxidation, as serum levels of the thiobarbituric acid reactive substances (TBARs, µmol MDA) and the degree of protein oxidation, as advanced Oxidation Protein Products (AOPP, µmol/g protein), were measured. Activities (nmol/min/mg of protein) of the main antioxidant enzymes, superoxide dismutase (SOD), glutathione peroxidase (GPX), glutathione reductase (GR), glutathione S-Transferase (GST) and catalases (CAT) were evaluated in PMNs cells and plasma. Oxidative biomarkers were correlated with clinical parameters. Results Twenty-three adults (mean age: 33,7, IQR 20,5 years, 42% male, 63% in remission) and 41 children with IBD (mean age: 12, IQR 4 years, 52% male, 61% in remission) were enrolled and compared respectively to 29 adults and 23 children controls. FRAP was significantly reduced in IBD children compared to adults (202 vs 277 mcmol/eq FeSO4, p Conclusion The antioxidant system and therefore the antioxidant capacity is significantly different in IBD compared to controls and evolve from paediatric to adult age, maybe as an effort to compensate the persistent redox imbalance and inflammation. Involvement of antioxidant cascade in IBD pathogenesis and role in therapeutic approach will be better outlined by the final results.

Background: The European Society for Paediatric Gastroenterology, Hepatology and Nutrition recommended in 2008, based on observational data, to avoid both early (

s / Digestive and Liver Disease 47S (2015) e237–e276 e265 neous rash, night sweating and systemic lymphadenitis. Hodgkin lymphomawas diagnosed at pediatric hematology and chemotherapy and radiotherapy were administered. She was admitted to our GI surgery practice because of refractory to iron therapy anaemia (haemoglobin 11.4 g/dl nv.12.1–15.2; serum iron 7.8 mol/L nv.9–21.5; ferritin1107 g/L nv.15–150; transferrin 2.28g/L nv.2.5–3.8). Workup: • EmA-IgA positive (nv.negative); Ab-anti-tTg-IgA>100UA/ml (nv. 100UA/ml (nv.

A "quick" prevalence study of intractable diarrhoea (defined as diarrhoea lasting more than 3 weeks and dependent on parenteral nutrition [PN] for more than 50% of daily caloric intake) was conducted by FAX. All 35 paediatric gastroenterology services which had been contacted answered questionnaire sent by FAX. 20 cases of intractable diarrhoea were identified in 9 centres. In 12 cases PN was administered at home, the other 8 cases being treated as inpatients for an average duration of 9.5 months. A diagnosis had been established in 11 out of 20 cases. Auto-immune enteropathy was the most frequent diagnosis (5 cases); congenital microvillous atrophy (3 cases); chronic pseudo-obstruction (2 cases) and multiple food intolerance (1 case). Undefined 9/20 cases presented atrophy of intestinal mucosa. The age of the beginning of diarrhoea varied from 2 days to 12 years, but was more than 16 months only in some cases with auto-immune enteropathy. CONCLUSION: Intractable diarrhoea has a low prevalence in Italy and remains a rare but very intricating problem. Long-term PN is recommended in most cases: autoimmune enteropathy is the most frequent cause but in about half of the cases the aetiopathogenetic diagnosis is still not defined.

BACKGROUND: Biliopancreatic Diversion (BPD), excluding the jejunum and part of the ileum from the transit of the food, reduces the absorptive intestinal area available to 250 cm of the distal ileum. The Intestinal Permeability Test (IPT) with Lactulose/Mannitol is performed to assess the intestinal mucosa function. The aim of this study was to investigate the effect of intestinal anatomical modifications induced by BPD on IPT in a group of severely obese patients. METHODS: Group A: 18 severely obese subjects who underwent BPD; the IPT was performed before (T0) and 8.2 +/- 0.9 days after BPD (T1). Group B: nine subjects of Group A; IPT was repeated 96.1 +/- 12.7 days (T2) and 180.4 +/- 19.7 days (T3) after BPD, respectively. IPT was expressed as the %Lactulose/%Mannitol ratio in the urine collected during 5 h after oral administration (normal %L/%M < 0.04). RESULTS: Data from Group A (paired Student's t-test) exhibited significantly higher values in T, with respect to T0 for %L/%M (p < 0.05) and for %L (p < 0.05), and significantly lower values in T, with respect to T0 (p < 0.001) for %M. In the Group B analysis of Variance from T0-T1-T2-T3 resulted statistically significant (p < 0.05) for % L/ % M and % M. CONCLUSIONS: The reduction of intestinal absorption surface induced by BPD causes a significant increase of the Lactulose/Mannitol IPT values, showing an intestinal mucosa function impairment. The IPT values improve progressively at 3 and 6 months after this surgical procedure.

Celiac disease (CD) or gluten-sensitive enteropathy is an autoimmune disorder triggered by gluten ingestion in genetically predisposed subjects. The presence of gluten in these patients leads to a self-perpetuating mucosal damage, while the elimination of gluten results in a full mucosal recovery. The prevalence of CD in the general population is between 0.3% and 1%. The clinical manifestation of CD is variable; in addition to the classical gastrointestinal form a variety of other clinical manifestation of the disease have been described, including atypical and asymptomatic form. The diagnosis of CD is still based on the small intestinal biopsy findings, but can be suspected using serological testing, e.g. the antigliadin antibody (AGA), the antiendomysial antibody (EMA) and the anti-tissue transglutaminase antibody (tTG). The keystone treatment of CD patients is a life-long gluten-free diet.

In the last years the prevalence of childhood obesity has notably increased. The treatment of this condition is very difficult, because of the frequent relapses. The aim of our study was to examine the long-term outcomes of different dietary treatments (1200 or 1400 calories or chetogenic diet, derived from the protein sparing modified fast) in children and adolescents with primary obesity, in order to show factors predictive of the long-term success.A group of 130 obese children previously undergoing a dietary treatment have been re-evaluated after a 3, 5 and 7 years period from the beginning of the diet.Ninety-seven out of 130 contacted patients (52 males and 45 females; mean age: 16+/-3 years) participated in this study. An overall improvement of the weight indexes has been observed (relative DBMI mean value: -10.5%). About 1/5 of the whole study-group is not overweight anymore. The statistical analysis (ANOVA and multiple regression analysis) showed that the factors positively affecting the long-term outcome were the following: use of chetogenic diet, initial success of the treatment, older age and strong motivation at the beginning of the diet, gender (male) and lack of familiarity for obesity.It is important, in the clinical practice, to consider the above factors that can predict the long-term success of the dietary treatment, in order to individualize the therapy.

and 6 months (6mo). PCDAI was calculated at the beginning and at 6 months. Statistical analysis was performed using Student’s t test and the value of p< 0.05 was considered statistically significant. Calprotectin mean value was 1296.4±1203.8mcg/ml at the onset, 645.9±623.8 at 1 month (p< 0.05); 633.6±722.5 (p< 0.05) at 3 months; 642.89±532.00 (p< 0.05) at 6 months. PCDAI of all patients was 20.00±4.5 at the beginning of NT, 14.8±5.5 at 6mo (p< 0.05), that indicates reduction of values, but not complete clinical remission (PCDAI

Celiac disease (CD) is a multifactorial disorder of the small intestine caused by a permanent dietary intolerance to gluten. The combined presence of the HLA class II DQA1*0501 and DQB1*0201 alleles represents the major genetic component for disease predisposition. It has been shown that the Saharawi refugees living in northern Africa have a very high frequency of CD. In the present study we analysed this population to evaluate the degree of association with CD of the haplotypes and genotypes at the main HLA-DQB1 and DQA1 disease loci. We found a strong association of the DR3, DQB1*0201-DQA1*0501-positive haplotypes and genotypes. A very high frequency of DR3, DQB1*0201-DQA1*0501 was also observed in the general Saharawi population. These results indicate that there is a good correlation between disease prevalence and frequency of the main predisposing haplotype in the background population. However, the correlation is incomplete because similar frequencies of DR3 are also observed in populations such as the Sardinians showing a much lower prevalence of CD. We can conclude that the distribution of DQ genes in the Saharawi population only provides a partial explanation for the high prevalence of CD. Other factors, such as rapidly changing dietary habits and/or non-DQ genes, may also play some role.

Recent data suggest that celiac disease, or gluten-sensitive enteropathy, is a common disorder not only in populations of European ancestry, but also in developing areas, such as North Africa, Middle East and India. The world distribution of celiac disease apparently relates to the consumption of gluten-containing cereals. In the Arab people of Saharawi, the prevalence of celiac disease in children is so high (more than 5%) that this condition represents a primary health problem. In developing countries the clinical picture of celiac disease is often typical, characterized by chronic diarrhea, malnutrition, stunting and increased mortality, especially in younger children. The high prevalence of celiac disease in areas showing a poor sanitary condition could be explained by a protective role of the celiac enteropathy (against intestinal infections) in the context of a low gluten consumption. The problem of celiac disease in developing countries should by approached by a multifaceted strategy, based on (1) increasing disease awareness and diagnostic facilities and (2) a "flexible" dietary intervention that takes into account the nutritional habits and local food availability.

OBJECTIVE: To characterize the clinical and nutritional impact of coeliac disease (gluten-sensitive enteropathy) among Saharawi children living as refugees in Algeria. METHODS: A total of 65 Saharawi children with coeliac disease were compared with 71 age-matched non-coeliac controls. For each participant, the clinical history was taken and a clinical examination, non-quantitative 24-hour dietary recall, anthropometric and skinfold measurements, bioelectric impedance analysis (BIA) of body composition, and venous blood sampling for haemoglobin determination were performed. RESULTS: Gluten-containing food, especially bread, was the staple diet of Saharawi children. Abdominal pain and distension were significantly commoner among children with coeliac disease than in controls (P < 0.05). The mean height-for-age was significantly lower in such children than in controls (-2.5 +/- 1.4 units vs -1.8 +/- 1.3 units, respectively, P < 0.01). No significant differences were found for either skinfold or BIA measurements. Haemoglobin values tended to be lower in children with coeliac disease than in controls. CONCLUSIONS: Coeliac disease has a negative effect on the health status of Saharawi refugee children. Because of the high prevalence of the condition in the Saharawi, a specific programme for treating all affected individuals should be established. Further studies are required to quantify the impact of coeliac disease in other areas of the developing world.

So far the reliability of the anti-tissue transglutaminase (anti-tTG) test for the diagnosis of coeliac disease has mostly been evaluated using slightly different enzyme-linked immunosorbent assays (ELISAs) in selected and usually small groups of patients. The aims of this study were: (1) to evaluate the reliability of the IgA anti-tTG antibodies for the diagnosis of coeliac disease; and (2) to define the sensitivity and specificity of a commercially available kit for the anti-tTG antibodies' quantitative determination.Each centre in this international multi-centre study collected sera from three groups of subjects: coeliac disease patients at the onset of (1) or on a gluten-free diet for at least 12 months (2); disease and healthy controls (3).The anti-tTG antibodies were determined in duplicate using an ELISA-based commercially available kit (Eu-tTG Eurospital, Trieste, Italy).The following overall cases and controls have been enrolled: (1) 399 subjects with active coeliac disease; (2) 351 treated coeliac disease cases; (3) 432 controls. The centralized re-testing was performed on: (1) group a: 176 patients with active coeliac disease (mean anti-tTG, 21 arbitrary units [AU]); (2) group b: 172 treated coeliac disease cases (mean anti-tTG, 5 AU); (3) group c: 206 controls (mean anti-tTG, 3 AU). In active coeliacs, the anti-tTG antibodies showed a significant progressive decrease with age, while in controls an opposite trend was found. In active coeliac disease patients, the anti-tTG antibodies were significantly higher in coeliacs with a grade III enteropathy than in those showing a grade II lesion. In treated coeliacs, the mean anti-tTG values were significantly lower in patients strictly adhering to a gluten-free diet than in those reporting dietary transgressions. The sensitivity and the specificity of the Eu-tTG assay were 90% and 96%, respectively.The results of this study show that the commercially available test for the anti-tTG antibodies' determination is a reproducible and valuable tool for the diagnosis and follow up of coeliac disease.

Tissue transglutaminase (tTG) has recently been identified as the autoantigen recognized by endomysial antibodies in celiac disease (CD) patients and this has permitted the use of an ELISA test to detect the presence in the serum of autoantibodies specific for the diagnosis of CD.We report two cases of anti-tTG positivity in patients with non-Hodgkin's lymphoma (NHL) without evidence of CD.Both patients were males aged 67 and 69 years respectively; both were hospitalized for fever and peripheral adenopathy. Lymph node histology showed an immunoblastic high-grade T-cell NHL at the IVth the stage of disease in both cases. They were included in a multicenter study on the association between CD and NHL. Serological screening for CD showed the presence of serum anti-tTG antibodies, with values within the range of those recorded in untreated CD patients in our laboratory; however, both patients had negative anti-endomysial antibodies and in both cases intestinal histology showed normal mucosa with villi and crypts of normal height and depth (villi/crypts ratioor = 2.5, within the range of normal subjects for our laboratory), and no increase in intraepithelial lymphocytes. The HLA phenotype was obtained giving the following antigens: Case 1: A 3, A 24(9), B 22, B 35, BW 6, DR 1, DR 11(5), DQ 3, DR 52. Case 2: A 2, A 3, B 51(5), B 8, BW 4, BW 6, DR B1*02, DR B1*03, DR B3*01. Both subjects were also positive for serum anti-smooth muscle antibodies and one for antinuclear antibodies.(1) Serum anti-tTG positivity can be found in subjects with NHL without CD and the real frequency of these 'false positives' must be investigated both in subjects with lymphoproliferative disorders and in patients with autoimmune diseases. (2) In patients with NHL, without CD, anti-tTG positivity may be unassociated with EmA positivity and the biological significance of this finding must be clarified.

After 5 years of treatment, 22 patients with celiac disease, diagnosed by means of serologic mass screening (mean age, 17.9 years), showed a lower compliance with a gluten-free diet and frequent positivity of serum anti-endomysium antibodies (32%) in comparison with a group of 22 age-matched patients diagnosed because of "typical" symptoms during childhood.

The determination of class G and A serum antigliadin antibodies remains one of the most widely used screening tests for coeliac disease. The results from different laboratories are not always comparable, on account of changes in the technique and the different ways of expressing the results.To: a) evaluate the physiological variation of serum antigliadin antibodies expressed in ng/ml, and b) establish the cut-off of quantitative antigliadin antibodies.Patients were 127 individuals with active coeliac disease. Controls were 395 non-coeliac subjects (198 females and 197 males) aged 6 months to 45 years (median age: 4.9 years).Antigliadin antibody enriched samples were obtained by affinity chromatography. The concentration of the eluted antigliadin antibodies was evaluated by nephelometry and enzyme-linked immunosorbent assay to establish a primary standard. An enzyme-linked immunosorbent assay for antigliadin antibody determination was run according to standard procedures.In controls, IgG-antigliadin antibody showed high variability in the 50th-90th centile range that peaked during the second year of life while IgA-antigliadin antibodies showed a lower variability and a less pronounced trend to decreasing values with age. A certain degree of overlapping between controls and coeliac patients was seen for both IgA- and IgG-antigliadin antibodies. The receiver operating characteristic analysis showed that the best discrimination was achieved by a cut-off of 8-10 ng/ml for IgA-antigliadin antibodies and 150-200 ng/ml for IgG-antigliadin antibodies.Antigliadin antibody concentration is not normally distributed and changes with age in non-coeliac subjects. The receiver operating characteristic analysis is a valuable tool for fixing the antigliadin antibody cut-offs between control and diseased individuals. The diagnosis of coeliac disease should always be confirmed by intestinal biopsy.

The spectrum of severe and protracted diarrhea (SPD), previously defined as intractable diarrhea, has changed during the past several decades. Despite recent advances in determining the cause of SPD and in treatment, this syndrome still represents a challenge and is becoming a major problem affecting health care resources. This study was conducted to characterize the epidemiology, spectrum of causes, and the outcome of SPD in Italy in recent years.All the SPD cases seen at the major centers of pediatric gastroenterology in Italy during a 3-year period (1993-1996) were recruited in this multicenter, prospective survey.Thirty-two children (26 boys and 6 girls; median age at the onset of SPD, 40 days) were enrolled in this study by 9 of 26 participating centers. Twelve were newly diagnosed cases, with an estimated SPD incidence rate in Italy of 0.64 to 0.92 x 10(-5) infants per year. The most common causes were autoimmune enteropathy (n = 8) and ultrastructural abnormalities of the enterocyte (n = 7), whereas food intolerance and postenteritis syndrome were less frequent (3 and 2 cases, respectively). Two children with autoimmune enteropathy fulfilled the criteria for the X-linked variant of this condition. At the end of the study period, 9 of 31 patients had recovered, 15 still had diarrhea, and 7 had died.Severe and protracted diarrhea is a rare but challenging problem in Italy. Because parenteral nutrition or intestinal transplantation are the only options in a subset of cases (e.g., ultrastructural abnormalities of the enterocyte), infants with SPD should be referred to specialized centers where advanced diagnostic and therapeutic facilities are available.

The Probiotics (Lactic acid bacteria) represent a nutritional live microbial supplement that positively affects host by enhancing the microbial balance. A survey is made of the most relevant studies concerning the use of probiotics in the prevention and treatment of infantile acute diarrhoea (by rotavirus or other agents), pseudomembranous colitis, hospital-acquired and antibiotic-associated diarrhoeas. Although the probiotics mechanism of action is not yet completely understood, it has been hypothesized that they exert an inhibitory effect on the intestinal inflammation by immune response modulation. Due to this property, the use of probiotics has therefore been suggested in other severe diseases such as chronic inflammatory bowel diseases, rheumatoid arthritis, food allergy, atopic dermatitis and as immunoadjuvant for oral vaccines.

Monosaccharide, lactose and oligosaccharide content of milk from mothers delivering prematurely (PT milk) was studied to evaluate whether changes occur during lactation, as observed in milk from mothers delivering at term (T milk).To study a homogeneous population, women having the most common phenotype (secretory both Lewis and A, B, or H phenotype) were selected. Milk samples from 26 mothers who delivered between the 27th and 35th week of gestation were collected at the 4th, 10th, and 30th post-partum days. Monosaccharides, lactose and oligosaccharides were measured by high-pressure liquid chromatography.Lactose concentration increased significantly (p0.05) from 52.81 +/- 8.2 g/L on day 4 to 69.24 +/- 9.36 g/L on day 30. During the same period of time oligosaccharide content decreased significantly (p0.05) from 25.61 +/- 5.19 g/L to 15.83 +/- 6.05 g/L. Monosaccharides did not show statistically significant variations.Our results indicate that PT milk contains in addition to lactose, a substantial amount of oligosaccharides and a lower percentage of monosaccharides. Compared to T milk, in the colostral phase PT milk presents significantly lower lactose concentration (p0.0001); on the contrary its oligosaccharide content is significantly higher (p0.0001). The physiological role of human milk carbohydrates in view of the peculiar needs of the preterm newborn is also discussed.

So far, Ménétrier's disease has been thought to be an uncommon disorder in children. It is characterized by hypertrophic gastritis, protein-losing enteropathy, hypoproteinemia and edema. During childhood, the main features of this condition include an abrupt onset and a spontaneous recovery. In this paper we describe three children, aging between 3 months and 3 years, who presented with protracted vomiting, generalized edema, colitis (one case) and elevated serum aminotransferases (one case). The diagnosis of Ménétrier's disease was made by finding the typical endoscopic and histological picture of the gastric mucosa (two cases) or by the radiological findings (one case). The fecal alpha-1-antitrypsin excretion, which is a marker of the protein-losing enteropathy, was high in all patients. Two cases showed evidences for a primary CMV infection as the possible cause of Ménétrier's disease, due to the presence of cytomegalic inclusions in the gastric mucosa and the IgM class anti-CMV antibodies positivity. All 3 cases, who received only a support treatment (plasma and albumin intravenous infusions), completely recovered in a 2-3 weeks time. In conclusion, it is confirmed that in children a protein-losing gastroenteropathy may be caused by a primary infection with CMV.

and 6 months (6mo). PCDAI was calculated at the beginning and at 6 months. Statistical analysis was performed using Student’s t test and the value of p< 0.05 was considered statistically significant. Calprotectin mean value was 1296.4±1203.8mcg/ml at the onset, 645.9±623.8 at 1 month (p< 0.05); 633.6±722.5 (p< 0.05) at 3 months; 642.89±532.00 (p< 0.05) at 6 months. PCDAI of all patients was 20.00±4.5 at the beginning of NT, 14.8±5.5 at 6mo (p< 0.05), that indicates reduction of values, but not complete clinical remission (PCDAI

Irritable bowel syndrome (IBS) is recognized to be a common cause of chronic diarrhea without failure to thrive in childhood. Several studies stressed the role of food intolerance as a major factor in the pathogenesis of IBS. The aim of this multicenter study was to investigate the offending role of food in IBS and to compare the therapeutic role of oral sodium cromoglycate versus elimination diet. 153 patients (mean age 4 years) with diarrhea (3 stools per day for four days in a week) and abdominal pain for about 10 months were enrolled in this trial. About half of the patients had a family history positive for atopy and 70% of the cases complained of intestinal symptoms after food ingestion. In 17% of the patients Skin Prick test (SPT) resulted positive to at least one food allergen and 87% of positive reactions to SPT was provoked by common foodstuffs. 87% of patients treated with elimination diet (rice, lamb, turkey, lettuce, carrots, sweet potatoes, pears, oil, tea, salt, mineral water, brown sugar) and 97% of patients treated with SCG (mean 63 mg/kg/day) for one month showed a significant improvement of intestinal symptoms. An elimination diet for several weeks can produce, beside a bad compliance (23% of patients admitted to our study didn't strictly follow diet regimen) also a nutritional deprivation. The results of this trial suggest that it's correct to investigate the role of food in children with diarrhea not due to organic diseases and diagnosed such as IBS and to use oral SCG to obtain the improvement of these symptoms.