M. Gambarara

Coeliac disease in Williams syndrome

BACKGROUND Coeliac disease (CD) has been reported in several patients affected by chromosomal disorders, including Down syndrome (DS) and Turner syndrome (TS). CD has also been found in sporadic Williams syndrome (WS) patients. In this study, CD was evaluated in a consecutive series of patients with WS, in order to estimate if the prevalence of CD in WS patients is higher than in the general population. METHODS AND RESULTS A consecutive series of 63 Italian patients with WS was studied by analysing the dosage of antigliadin antibodies (AGA) IgA and antiendomisium antibodies (AEA). In patients with positive AGA and AEA, small bowel biopsy was performed. The prevalence of CD in our WS population was compared with that estimated in a published series of 17 201 Italian students. Seven WS patients were found to be positive for AGA IgA and AEA. Six of them underwent small bowel biopsy, which invariably disclosed villous atrophy consistent with CD. The prevalence of CD in the present series of WS patients was 9.5% (6/63), compared to 0.54% (1/184) in the Italian students (p<0.001). CONCLUSION The present results suggest that the prevalence of CD in WS is higher than in the general population and is comparable to that reported in DS and TS. AGA and AEA screening is recommended in patients with WS.

Clinical efficacy and safety of parenteral nutrition in adolescent girls with anorexia nervosa.

PURPOSE Anorexia nervosa (AN) is a common chronic disorder characterized by severe malnutrition and psychological disturbances. Parenteral nutrition (PN) is not usually used in nutritional rehabilitation of AN. The aim of our study was to retrospectively evaluate the indications, clinical efficacy, and safety of PN as assessed by short- and long-term outcomes in AN inpatient girls. METHODS During the last 10 years a total of 198 inpatients were included in our study: 104 (53%) received oral and parenteral refeeding (group A) and 94 (47%) oral refeeding alone (group B). For each nutritional treatment, clinical efficacy was evaluated by short- and long-term outcomes, and safety was assessed by complication rate. RESULTS Short-term outcome assessment indicated weekly weight gain and maximum caloric intake to be higher in PN-treated patients. Long-term outcome evaluation showed rehospitalization and recovery rate to be similar in the two groups, but failure of first nutritional rehabilitation requiring PN significantly greater in group B (17.5%) than in group A (3%) (p = .01). The number of complications was significantly higher in group A than in group B (p = .004), although all complications resolved. CONCLUSION Among all nutritional rehabilitation strategies, PN offers an alternative and safe way to successfully treat AN patients. Presence of clinical complications and reduced compliance with individual, group, and family therapy seem to be the main indications for PN, as it promptly improves nutritional status. At pediatric and adolescent ages, psychological disturbances can also contraindicate the use of enteral nutrition, and therefore represent an additional indication for PN.

Irreversible Intestinal Failure : Prevalence and Prognostic Factors

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.

Oral Gancyclovir Therapy for Immunocompetent Infants With Cytomegalovirus-associated Hemorrhagic or Intractable Enterocolitis

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.

Gastric electric activity assessed by electrogastrography and gastric emptying scintigraphy in adolescents with eating disorders.

Background: Patients with eating disorders can refer to a variety of gastrointestinal symptoms, sometimes to justify reduced food intake and vomiting. The authors investigated whether adolescent patients with eating disorders and dyspeptic symptoms have altered gastric electric activity and abnormal gastric emptying as assessed respectively by electrogastrography and scintigraphy. Methods: Twenty‐eight patients (18 with anorexia and 10 with bulimia) and 16 healthy volunteers underwent electrogastrography; 20 of the 28 patients (14 with anorexia and 6 with bulimia) underwent gastric emptying scintigraphy. Electrogastrography with bipolar recording lasted 1 hour, 30 minutes before and after a standard meal. Before gastric emptying scintigraphy, patients fasted overnight; during testing, they ingested a solid meal labeled with technetium‐99m sulfur colloid. The ratio of fasting to postprandial electrogastrographic variables was evaluated using the Wilcoxon matched‐pair test. The Mann‐Whitney test was used to compare absolute values for electrogastrographic data in each group. The Student paired t test was used to compare scintigraphic results expressed as percentage of gastric emptying at 60 minutes and as the gastric emptying time (T½). Results: Patients with bulimia significantly differed from those with anorexia and control subjects regarding the amount of normal gastric electric activity and bradygastria, and from patients with anorexia only regarding tachygastria. These electrogastrographic variables did not differ significantly between patients with anorexia and control subjects. Gastric emptying time (T½) was significantly longer in patients with bulimia than in those with anorexia. Conclusions: Adolescent patients with bulimia who complain of dyspeptic symptoms have documentable abnormalities of gastric electric activity and emptying, whereas their counterparts with anorexia, probably owing to their shorter disease duration, do not.

Intestinal adaptation in short bowel syndrome

Abstract Short bowel syndrome (SBS) either in adults or in children is considered as an indication of small bowel transplantation (SBT).1,2 Severity and prognosis depend on various factors such as small bowel resection length, patients age, and intestinal length at the time of resection. In pediatrics, most patients, affected by SBS undergo resection when neonates or anyway in the first months of life (necrotizing enterocolitis, congenital anomalies of gastrointestinal troct, abdominal wall defects); only in few patients pathology begins later on, usually for tumoral, vascular or Crohns diseases. Intestinal adaptation process, characterized by epithelial hyperplasia, has an early onset, within the first days after resection, with a progressive increase of intestinal absorptive surface; such adapting capacity is greater for ileum rather than for jejunum.2–5 This intestinal adaptation process with mucosal hyperplasia requires an enteral nutrition which acts both directly by nutrients contact on intestinal epithelium and by stimulating the secretion of trophic factors such as enteroglucagon, epidermal growth factor and insulin-like growth factor-1. From the clinical point of view, the term “adaptation” means the total nutritional autonomy with a satisfying height and weight growth. In patients who initially need parenteral nutrition (PN), total intestinal adaptation is considered as attained when they can stop PN. The aim of the present study is to evaluate retrospectively our series of severe SBS patients, with residual intestine shorter than 100 cm, who consequently required a prolonged PN, verifying the possibility and the time of intestinal adaptation and therefore the existence or not of an indication to intestinal transplantation.

Home enteral nutrition in children: a 14-year multicenter survey.

Background/Objectives:The practice of home enteral nutrition (HEN) represents a relevant aspect of the clinical management of both malnourished children and well-nourished children unable to be fed using an oral diet. The aim of this study was to estimate in an Italian paediatric population over a 14-year period (1996–2009), the clinical relevance and results over time of HEN activity.Subjects/methods:HEN-computerized database and medical/dietetic charts were evaluated for patients aged at start of HEN <18 years and HEN duration >1 month.Results:During the study period, we recorded 757 HEN programs. HEN began at a median age of 2 years for a median duration of 8.1 months. The complication rate was 14.8%. In the second period of the survey (2003–2009), the main changes concerned the underlying diseases requiring HEN, choice of formula feeding and access route. In 2009, the estimated overall prevalence of HEN was 3.47 and the incidence 2.45 per 100 000 inhabitants from 0 to 18 years of age.Conclusions:The epidemiological data of this study demonstrate that HEN concerns a growing number of Italian children and families. Some aspects of HEN clinical management should be modified to reach the recommended standards.

Network approach to the child with primary intestinal failure

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.

Clinical outcome and safety of periodic infliximab therapy in children and adolescents with Crohn's disease

To the Editor: We have read with great interest the recent paper by Lien et al. (1) on growth and safety in term infants fed reduced-protein formula with added bovine alpha-lactalbumin. At the end of the Discussion section the authors state the following: “this current study is the first to reduce total protein concentration in infant formula by the use of a new whey fractionation method.” However, in September 2002 (2) we published a study in which reduced protein formulas were studied in term infants and compared with infants fed conventional formula or breast milk. In this study the bovine alphalactalbumin proportion in the reduced protein formula was also increased by a protein fractionation process involving bovine whey proteins. Surprisingly, the authors of the current study (1) have not made any reference to our study although it was published in the same Journal. The two formulas (EF experimental formula and CF control formula) used in the present study (1) had a total protein concentration of 14.4 g/L and 15.1 g/L, respectively. The difference of 0.7 g/L is very small and it would be interesting to know the batch-to-batch variation in protein concentration in the two formulas. The protein/energy ratio of the formulas is not reported, but assuming an energy density of 67 kcal/100 ml the difference in protein content per 100 kcal would be only 0.1 g (2.15 and 2.25 g/100 kcal). It would also be nice to know the non-protein nitrogen content of the formulas used. Did reduced protein formula really decrease true protein intake in the EF feeding group? Mean protein intakes in the infants were not presented.

Complications of infliximab therapy in children and adolescents affected by Crohn's disease

Complications of infliximab therapy in children and adolescents affected by Crohns disease