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Human nutrition encompasses an extremely broad range of medical, social, commercial, and ethical domains and thus represents a wide, interdisciplinary scientific and cultural discipline. The high prevalence of both disease-related malnutrition and overweight/obesity represents an important risk factor for disease burden and mortality worldwide. It is the opinion of Federation of the Italian Nutrition Societies (FeSIN) that these two sides of the same coin, with their sociocultural background, are related to a low "nutritional culture" secondary, at least in part, to an insufficient academic training for health-care professionals (HCPs). Therefore, FeSIN created a study group, composed of delegates of all the federated societies and representing the different HCPs involved in human nutrition, with the aim of identifying and defining the domains of human nutrition in the attempt to more clearly define the cultural identity of human nutrition in an academically and professionally oriented perspective and to report the conclusions in a position paper. Three main domains of human nutrition, namely, basic nutrition, applied nutrition, and clinical nutrition, were identified. FeSIN has examined the areas of knowledge pertinent to human nutrition. Thirty-two items were identified, attributed to one or more of the three domains and ranked considering their diverse importance for academic training in the different domains of human nutrition. Finally, the study group proposed the attribution of the different areas of knowledge to the degree courses where training in human nutrition is deemed necessary (e.g., schools of medicine, biology, nursing, etc.). It is conceivable that, in the near future, a better integration of the professionals involved in the field of human nutrition will eventually occur based on the progressive consolidation of knowledge, competence, and skills in the different areas and domains of this discipline.

Purpose: Several researchers have found that plasma citrulline could be a marker of reduced enterocyte mass. The aim of this study was to assess the relationship between plasma citrulline and bowel inflammation and/or disease location in pediatric and adolescent Crohn's disease (CD) patients., Methods: Between January 2008 and January 2010, 31 CD patients and 44 controls were included in our study, and 15 out of the 31 CD patients continued a prospective survey. We evaluated the differences between groups, at baseline, in plasma citrulline and glutamine and between their baseline and final values during the prospective survey, and correlation between baseline values of citrulline and duration of disease, C-reactive protein, and fecal calprotectin., Results: Mean citrulline value was 33.0 ± 7.5 μmol/L in controls and 23.5 ± 8.4 μmol/L in CD patients (P < 0.0001). Plasma citrulline was significantly lower in patients with small bowel (SB) location than in patient with only ileo-colon disease (14.2 ± 5.5 and 24.7 ± 8.0, respectively; P = 0.0037). Citrulline ≤22 μmol/L reached sensitivity of 100% (95% confidence interval (CI) 54-100) and specificity of 98% (CI 89-99) in differentiating control subjects from CD with SB location., Conclusions: CD patients have reduced concentration of plasma citrulline than controls. Intestinal damage rather than inflammation seems to be responsible for the reduced biosynthesis of citrulline, which decreases particularly in CD patients with SB location. This finding suggests the potential role of citrulline as marker of disease location, but future works will be needed to confirm this suggestion.

Purpose: The aim of this study is to determine if prospective determinations of citrulline could be predictive of the bowel adaptation in children with short bowel syndrome (SBS)., Methods: Between March 2005 and March 2010, we prospectively included 28 SBS patients on parenteral nutrition. The citrulline and the enteral intake determinations were scheduled at the inclusion and at 6-month intervals. We assessed the correlation between citrulline and bowel length as well as enteral caloric intake, longitudinal trend of citrulline and association between patients characteristics according to the course of bowel adaptation., Results: Citrulline significantly correlated with the residual duodenum-jejunum length (r (2) = 0.22, P = 0.0113) and with enteral intake (r (2) = 0.20, P = 0.016 and r (2) = 0.48, P = 0.0001). Baseline citrulline at the cutoff >10 μmol/L and a longitudinal increase >25% provided a weak association with bowel adaptation (likelihood ratio (LR), 2.6 and 2.4, respectively), unlike residual small bowel length ≥20 cm and the presence of >50% of the colon (LR, 10 and 6, respectively)., Conclusions: Citrulline seems to be a powerful biomarker of the intestinal function, showed by the correlation with the residual duodenum-jejunum length and the enteral absorption, but not of its prospective changes during the bowel adaptation process. Future studies may be necessary to confirm this finding.

Background: The indications for intestinal transplantation (ITx) are still debated. Knowing survival rates and causes of death on home parenteral nutrition (HPN) will improve decisions., Methods: A prospective 5-year study compared 389 non-candidates (no indication, no contraindication) and 156 candidates (indication, no contraindication) for ITx. Indications were: HPN failure (liver failure; multiple episodes of catheter-related venous thrombosis or sepsis; severe dehydration), high-risk underlying disease (intra-abdominal desmoids; congenital mucosal disorders; ultra-short bowel), high morbidity intestinal failure. Causes of death were defined as: HPN-related, underlying disease, or other cause., Results: The survival rate was 87% in non-candidates, 73% in candidates with HPN failure, 84% in those with high-risk underlying disease, 100% in those with high morbidity intestinal failure and 54%, in ITx recipients (one non-candidate and 21 candidates) (p<0.001). The primary cause of death on HPN was underlying disease-related in patients with HPN duration ≤2 years, and HPN-related in those on HPN duration >2 years (p=0.006). In candidates, the death HRs were increased in those with desmoids (7.1; 95% CI 2.5 to 20.5; p=0.003) or liver failure (3.4; 95% CI 1.6 to 7.3; p=0.002) compared to non-candidates. In deceased candidates, the indications for ITx were the causes of death in 92% of those with desmoids or liver failure, and in 38% of those with other indications (p=0.041). In candidates with catheter-related complications or ultra-short bowel, the survival rate was 83% in those who remained on HPN and 78% after ITx (p=0.767)., Conclusions: HPN is confirmed as the primary treatment for intestinal failure. Desmoids and HPN-related liver failure constitute indications for life-saving ITx. Catheter-related complications and ultra-short bowel might be indications for pre-emptive/rehabilitative ITx. In the early years after commencing HPN a life-saving ITx could be required for some patients at higher risk of death from their underlying disease.

Patients on long-term parenteral nutrition (PN) are at significantly increased risk for the development of metabolic bone disease (MBD); this condition is characterized by incomplete mineralization of osteoid with consequent disturbances ranging from osteopenia to severe bone disease with fractures. The aim of the study was: (1) to evaluate the prevalence of MBD, (2) to identify the PN- or intestinal failure (IF)-related factors and (3) to assess annual changes of bone mineral status. Since September 2005 all patients affected by IF and treated with PN started a BMD evaluation program using dual-energy X-ray absorptiometry (DXA). Twenty-four IF patients were included [15 with short bowel syndrome (SBS), 5 with severe protracted diarrhea and 4 with chronic intestinal pseudostruction]. The bone mineral density (BMD) Z-score was significantly lower in patients than in the control group. In our series SBS patients showed a BMD Z-score significantly higher in comparison with the medical causes of IF. No significant correlations were found between bone mineral status and PN duration and nutrient intake. Nine IF patients were submitted to a second DXA evaluation after 1 year from the baseline. All bone mineral variables were significantly increased at the second DXA evaluation. The high prevalence of MBD in IF patients undergoing long-term treatment with PN requires that these patients undergo careful and periodic monitoring of their bone mineral status; patients with congenital gut dysfunctions, such as epithelium defects and motility anomalies, are at major risk of developing this complication, probably due to the association with extra-intestinal causes of bone loss.

Three infants, who had prenatal or immediately postnatal cytomegalovirus (CMV) infection associated with persistently severe enterocolitis requiring total parenteral or nasal gastric feeding, were treated with gancyclovir. The intestinal CMV involvement was shown by the detection of CMV-DNA in the stools of all 3 infants and in the enteral sample from 1 of 2 biopsied infants. Gancyclovir, when given intravenously to the infants, was not followed by CMV clearance or stable clinical improvement. On the contrary, oral gancyclovir that was given for 1- to 2-month courses at the dosage of 70 mg/kg, was associated with clinical improvement or recovery and reintroduction of oral feeding. Cytomegalovirus-DNA detection became persistently negative in the stools of the infants within 17 months after starting oral gancyclovir. Each child showed normal growth and sensorial, mental, and motor development at the age of 4.7 to 6 years. Oral gancyclovir may be suggested for treatment of CMV-associated chronic hemorrhagic or intractable enterocolitis.

Background and Aim: Parenteral nutrition (PN) is the primary treatment for intestinal failure, which is considered irreversible in patients who remain partially or fully dependent on PN. Causes of irreversible intestinal failure are short bowel syndrome (SBS), motility disorders (MD), and severe protracted diarrhea (SPD). The aim of this study was to report the clinical outcome in these patients in relation to the underlying disease., Patients and Methods: From January 1, 1989 to December 31, 2006, 218 intestinal failure patients were observed in our center, but only 96 (48 SBS, 39 SPD, and 9 MD) were included because they required at least 50% of their total calories as PN for not less than 3 months. In these patients, survival and complication rates were evaluated., Results: The survival rate was significantly higher in SBS patients than in the other groups (P < 0.01). SBS patients showed a higher rate of major complications, although only intestinal failure-associated liver disease was significantly higher (P < 0.001). In our series, MD was the main cause of irreversible intestinal failure., Conclusions: The potential for bowel adaptation is higher in surgical than in medical causes of intestinal failure and does not seem to be influenced by complications of intestinal failure. SBS, although worsened by the major number of complications, was not the main category contributing to intestinal failure.

Background & Aims: The US Medicare indications for intestinal transplantation are based on failure of home parenteral nutrition. The American Society of Transplantation also includes patients at high risk of death from their primary disease or with high morbidity intestinal failure. A 3-year prospective study evaluated the appropriateness of these indications., Methods: Survival on home parenteral nutrition or after transplantation was analyzed in 153 (97 adult, 56 pediatric) candidates for transplantation and 320 (262 adult, 58 pediatric) noncandidates, enrolled through a European multicenter cross-sectional survey performed in 2004. Kaplan-Meier and chi-square test statistics were used., Results: The 3-year survival was 94% (95% CI, 92%-97%) in noncandidates and 87% (95% CI, 81%-93%) in candidates not receiving transplants (P = .007). Survival was 80% (95% CI, 70%-89%), 93% (95% CI, 86%-100%), and 100% in parenteral nutrition failure, high-risk primary disease, and high-morbidity intestinal failure, respectively (P = .034). Fifteen candidates underwent transplantation. Six died, including all 3 of those who were in hospital, and 25% of those who were at home at time of transplantation (P = .086). Survival in the 10 patients receiving a first isolated small bowel transplant was 89% (95% CI, 70%-100%), compared with 85% (95% CI, 74%-96%) in the candidates with parenteral nutrition failure not receiving transplants because of central venous catheter complications, or 70% (95% CI, 53%-88%) in those with parenteral nutrition-related liver failure (P = .364)., Conclusions: The results confirm home parenteral nutrition as the primary therapeutic option for intestinal failure and support the appropriateness and potential life-saving role of timely intestinal transplantation for patients with parenteral nutrition failure.

Background & Aims: To assess prevalence of bone mineral density (BMD) reduction and relationship between bone mineral status and anthropometric assessment, nutritional intake and physical activity in adolescents with early anorexia nervosa (AN)., Methods: Fifty-seven consecutive AN patients and 57 healthy controls underwent anthropometric status, bone density, body composition and physical activity evaluations. In AN patients clinical features and nutritional intake were also assessed., Results: Thirty-five patients with AN (62%) and 44 healthy subjects (77%) (pNS) showed normal BMD. Mean value of BMD Z-score was -0.6+/-0.9 in AN patients and -0.2+/-1.4 in controls (pNS). Weight at diagnosis and lean mass resulted the main predictor of bone loss but also height, best weight before diagnosis and BMI resulted correlated with bone mineral status in AN patients. Additionally, AN patients maintained good levels of protein intake and sport activity, Conclusions: Early diagnosis may prevent bone loss in AN patients. Protein intake and moderate physical activity seem to be useful to maintain an adequate bone mineral status.

Congenital rubella syndrome (CRS) continues to represent a public healthcare problem although an effective vaccination program. Gastrointestinal involvement is rather infrequent and the association of CRS with duodenal stenosis has been never reported. In this study a case of CRS with duodenal diaphragm is reported and the gastrointestinal diseases described in association with CRS are reviewed. A 10-month-old child affected by CRS with congenital hearth disease, perceptive deafness and microcephaly, was admitted because of vomiting and failure to thrive. An upper endoscopy demonstrated dilated proximal duodenum and a perforated diaphragm in the second segment of the duodenum. Endoscopic membranectomy was therefore performed. Two months later the patient was submitted to a further endoscopic evaluation that showed a partial diaphragm persistence and a second excision was performed. Follow-up one year after the first treatment showed good clinical conditions, reasonable physical growth and disappearance of vomiting. In conclusion we report the first case of CRS in association with duodenal stenosis. Duodenal stenosis in the absence of other intestinal localizations may be due to rubella capacity of infecting only small numbers of fetal cells but we cannot exclude that the duodenal stenosis in our patient be only a casual association.

Intestinal failure (IF) is a rare condition resulting from short gut and other heterogeneous intestinal diseases. Major centers in Italy merged in a national network to build common diagnostic and management approaches and to investigate the natural history of IF. Gastroenterological reference centers with specific expertise in intestinal morphology, diagnosis of autoimmune conditions, intestinal microbiology and parenteral nutrition were identified to act as consultants to the network. These centers of expertise provided specific diagnostic approaches while ensuring high technical standards. The approach allowed each center to learn from a larger cohort of patient samples. A database was set up to investigate etiology, epidemiology and natural history of IF. A common diagnostic algorithm for intractable diarrhea was designed. This process was largely based on electronic communication among centers and specimen shipping. Etiologic diagnosis was obtained in almost all cases of IF secondary to severe protracted diarrhea. The study of the natural history of IF showed a close association between etiology of IF and its outcome. The natural history of IF also provided the starting point for specific therapeutic approaches to its complications such as parenteral nutrition-associated cholestasis and catheter-related sepsis. The network approach to IF provides an effective model to optimize resources and prospectively investigate the natural history of IF, essential steps to design interventions, including intestinal transplantation and improve the outcome of IF.

Background & Aims: The syndrome of immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is a rare disorder resulting in the expression of multiple autoimmune and allergic features. Early onset enteropathy and type 1 diabetes (T1D) are the most common clinical features. The IPEX syndrome is caused by mutations of the FOXP3 gene, which is essential for the development of regulatory T cells (Treg). We describe 2 unrelated patients with IPEX syndrome with a mild clinical phenotype and with novel FOXP3 mutations and the phenotypic and functional characterization of their Treg cells., Methods: The FOXP3 gene was analyzed by sequencing amplimers from genomic DNA. Treg cells were characterized by evaluating the number of CD4+CD25+ T cells and their functional ability to suppress the proliferation of autologous CD4+CD25- effector T cells stimulated with anti-CD3 and anti-CD28 antibodies., Results: A 7-year-old boy and a 24-year-old man presented with autoimmune enteropathy characterized by early onset persistent diarrhea not associated with T1D or other endocrinopathies. These 2 patients carry novel FOXP3 mutations that do not abrogate the function of the forkhead domain. They have normal numbers of CD4+CD25+ T lymphocytes, however, these show severely defective suppressive function in vitro., Conclusions: Our 2 patients show that IPEX patients may present with early onset enteropathy and long-term survival without T1D or other endocrinopathies. This milder phenotype may be associated with FOXP3 mutations that do not abrogate the function of the forkhead domain.