The Variable Response to Teduglutide in Pediatric Short Bowel Syndrome: A Single Country Real-Life Experience.

OBJECTIVES: The glucagon-like peptide-2 analog Teduglutide has been shown to enhance intestinal absorption and decrease parenteral nutrition (PN) requirements in short bowel syndrome (SBS). As data in children is limited, we evaluated nationwide real-life experience and treatment outcome in children with SBS. METHODS: Longitudinal data of children treated with Teduglutide for ≥3 months was collected. Data included demographic and medical background, anthropometrics, laboratory assessments and PN requirements. Treatment response was defined as >20% reduction in PN requirement. RESULTS: The study included 13 patients [54% males, median (interquartile range {IQR}) age of 6 (4.7-7) years]. The most common SBS etiology was necrotizing enterocolitis (38%), and median (IQR) small bowel length was 20 (15-40) cm. Teduglutide treatment ranged between 3 and 51 months [median (IQR) of 18 (12-30) months], with 10 patients (77%) treated >1 year. Response to treatment was observed in 8 patients (62%), with a mean [±standard deviation (SD)] treatment duration of 5.9 (±3.2) months. Among responders, 2 patients were weaned off PN and additional 4 decreased PN needs by >40%. There was a median (IQR) reduction in PN volume/kg of 36% (15%-55%) and in PN energy/kg of 27% (6%-58%). Response was not associated with patients' background, and no correlation was found with bowel length or PN dependency at baseline. CONCLUSIONS: Real-life response to Teduglutide is highly variable among children with SBS. While most patients did reach 20% reduction in PN, less achieved further significant reduction or enteral autonomy. No predictive factors of response to treatment were identified, and large multicenter studies are needed to elucidate predictive factors and long-term outcome.

Validation and impact of paediatric malnutrition screening tool in hospitalised children on awareness of medical staff and health-related outcomes.

AIMS: This study aimed to evaluate the use of the Screening Tool for the Assessment of Malnutrition in Paediatrics (STAMP) among children admitted in a paediatric hospital, and assess its impact on the nutritional status awareness among the medical staff and on health outcomes at discharge. METHODS: STAMP performed by nurses on admission was compared with full nutritional assessment performed by a dietitian. Area under the receiving operating characteristic (AUROC) curve was used to evaluate validity of the tool. To assess how the tool affected awareness among the staff, information on nutritional status was compared prior to and following the intervention period. Therewith, health outcomes at discharge were compared for the children who had been screened by STAMP and the children who had not. RESULTS: The analysis was performed for a total of 60 children (38 boys, 63%). The mean age was 7.8 ± 4.7 years. Malnutrition was found in 16% of patients, segregating equally between acute and chronic malnutrition. Sensitivity, specificity, positive predictive value and negative predictive value were 95.7% (95% confidence interval, CI = 85.75-98.83%), 76.9% (95% CI = 49.74-91.82%), 93.7 and 83.3, respectively. AUROC was 0.863 (95% CI = 0.72-1). There was no difference either in malnutrition awareness among the medical staff before and after the intervention period or in health outcomes at discharge. CONCLUSIONS: STAMP is a valid tool for malnutrition screening in hospitalised children; however, its use does not influence admitted patients' nutritional status awareness among the medical staff nor their outcomes at discharge.

Decreased Fecal Calprotectin Levels in Cystic Fibrosis Patients After Antibiotic Treatment for Respiratory Exacerbation.

OBJECTIVES: In all patients with cystic fibrosis (CF), gastrointestinal (GI) tract CF transmembrane conductance regulator dysfunction occurs early in life. The identical pathophysiological triad of obstruction, infection, and inflammation causes disease of the airways and in the intestinal tract (CF enteropathy). Mucus accumulation within GI tract is a niche for abnormal microbial colonization, leading to dysbiosis. Fecal calprotectin (FC) is a neutrophil cytosolic protein released during apoptosis and necrosis and reflects inflammatory status. Systemic antibiotic treatment for pulmonary exacerbations has been shown to improve systemic inflammatory markers and serum and sputum calprotectin. Antibiotic treatment aimed at pulmonary complaints may improve GI tract inflammatory status. We hypothesized that high levels of FC present during pulmonary exacerbation are due, in part, to multiorgan dysbiosis and thus should diminish with systemic antibiotic treatment. METHODS: This prospective pilot study enrolled 14 patients with CF, with no current GI symptoms. FC levels and lung function were measured at the beginning and end of systemic antibiotic treatment. RESULTS: Compared to preantibiotic treatment baseline values, end of treatment FC levels declined significantly after antibiotic treatment, P = 0.004 and similarly, there was significant improvement in forced expiratory volume in 1 second, P = 0.002. CONCLUSIONS: High levels of FC during respiratory exacerbation may reflect a systemic exacerbation rather than solely pulmonary. Antibiotic treatment lowered the FC levels possibly by its impact on the intestinal microbiome.

Incidence of Bowel Surgery and Associated Risk Factors in Pediatric-Onset Crohn's Disease.

BACKGROUND: Data describing the incidence and the risk factors for surgical interventions in pediatric Crohn's disease (CD) is inconsistent. Our aim was to describe the rates of intestinal surgery and to identify associated risk factors in a large cohort of children with CD. METHODS: Medical charts of 482 children with CD from the Schneider Pediatric Inflammatory Bowel Disease cohort who were diagnosed between 1981 and 2013 were carefully reviewed retrospectively. RESULTS: Of 482 patients, 143 (29.7%) underwent intestinal surgery with a median follow-up time of 8.6 years (range, 1-30.5). Kaplan-Meier survival estimates of the cumulative probability of CD-related intestinal surgery were 14.2% at 5 years and 24.5% at 10 years from diagnosis. Of these, 14% needed more than one operation. Multivariate Cox models showed that isolated ileal disease (hazard ratio [HR] 2.39, P = 0.008), complicated behavior (penetrating or stricturing) (HR 2.44, P < 0.001) and higher severity indices, at diagnosis, including Harvey-Bradshaw (HR 1.06, P = 0.009) and short Pediatric Crohn's Disease Activity Index (HR 1.02, P = 0.001) were associated with increased risk for intestinal surgery. Age, gender, family history of CD, early introduction of immunomodulators, treatment with anti-tumor necrosis factor α, or diagnosis before the year 2000 did not affect the risk of bowel surgery. CONCLUSIONS: Ileal location, complicated behavior, and higher disease activity indices at diagnosis are independent risk factors for bowel surgery, whereas anti-tumor necrosis factor α treatment and diagnosis during the "biological era" are not associated with diminished long-term surgical risk.

Evolution of disease phenotype in pediatric-onset Crohn's disease after more than 10 years follow up-Cohort study.

BACKGROUND: Pediatric-onset Crohn's disease (CD) is a heterogeneous disorder which is subjected to progression and complications in a substantial proportion of patients. AIMS: We aimed to assess the progression in pediatric-onset CD phenotype on long term follow up. METHODS: Medical charts of pediatric onset CD patients with at least 10 years follow-up were analyzed retrospectively. Disease phenotype was determined at diagnosis and during follow up at different time points. Phenotype was determined according to the Paris classification. The impact of possible predictors on phenotype progression was assessed as well as the association between different therapeutic regimens during disease course and phenotype progression. RESULTS: Progression of disease location, behavior, and perianal involvement was observed in 20%, 38% and 20% of patients, respectively, after a median follow-up of 16.4 (±4.4) years. Microscopic ileocolonic disease at diagnosis was significant predictors for progression of disease extent. Treatment with anti tumor necrosis factor-ɑ agents and number of flares per years of follow-up were associated with progression of disease extent, behavior and perianal involvement. CONCLUSION: Disease extent, behavior and prevalence of perianal disease change significantly over time in pediatric-onset CD. In our cohort, most clinical, laboratory and endoscopic parameters do not serve as predictors for long-term disease progression.

Food Intake Adequacy in Children and Adolescents With Inflammatory Bowel Disease.

OBJECTIVES: Diet assessment is essential in the care of patients with inflammatory bowel disease (IBD). We aimed to study food intake in children with IBD and evaluated the relation of dietary intake with disease activity and nutritional status in these children. METHODS: This cross-sectional study investigated 68 children and adolescents with IBD (57 Crohn disease, 11 ulcerative colitis). Evaluation included clinical, laboratory, and nutritional assessment including 3 days diet record. RESULTS: Compared with recommended daily allowance, the intake of patients with IBD was significantly poor for carbohydrates (75%, P = 0.016), calcium (49%, P < 0.05), magnesium (76%, P < 0.05), vitamin A (72%, P < 0.05), vitamin E (57%, P < 0.05), and fiber (44%, P < 0.05) and higher for protein (175%, P < 0.05), iron (112%, P < 0.05), and water-soluble vitamins (118%-189% P < 0.05). Compared with the intakes of healthy children from National Nutritional Survey, the intake of IBD group was lower for calories (78%, P = 0.012), carbohydrates (61% P < 0.05), magnesium (67% P < 0.05), vitamin C (34%, P < 0.05), and fiber (54%, P < 0.05) and high for B12 (141%, P < 0.05). Fifty subjects ate ordinary diets, 7 of 68 children were on exclusive enteral nutrition and 11 of 68 consumed regular food with different polymeric formulas supplements. Compared with children without supplements, children on exclusive enteral nutrition and nutritional supplements (18/68) had significantly better intakes of energy (1870 ±â€Š755 vs 2267 ±â€Š432, P < 0.05), carbohydrates (223 ±â€Š97 vs 292 ±â€Š99, P < 0.05), and all minerals (P < 0.05) and micronutrients (P < 0.05). Dietary intake was not different by disease status (remission or relapse). CONCLUSIONS: In the absence of nutritional supplements, food intake is inadequate for many nutrients in many children with IBD.

Randomized feeding intervention in infants at high risk for celiac disease.

BACKGROUND: A window of opportunity has been suggested for reducing the risk of celiac disease by introducing gluten to infants at 4 to 6 months of age. METHODS: We performed a multicenter, randomized, double-blind, placebo-controlled dietary-intervention study involving 944 children who were positive for HLA-DQ2 or HLA-DQ8 and had at least one first-degree relative with celiac disease. From 16 to 24 weeks of age, 475 participants received 100 mg of immunologically active gluten daily, and 469 received placebo. Anti-transglutaminase type 2 and antigliadin antibodies were periodically measured. The primary outcome was the frequency of biopsy-confirmed celiac disease at 3 years of age. RESULTS: Celiac disease was confirmed by means of biopsies in 77 children. To avoid underestimation of the frequency of celiac disease, 3 additional children who received a diagnosis of celiac disease according to the 2012 European Society for Pediatric Gastroenterology, Hepatology, and Nutrition diagnostic criteria (without having undergone biopsies) were included in the analyses (80 children; median age, 2.8 years; 59% were girls). The cumulative incidence of celiac disease among patients 3 years of age was 5.2% (95% confidence interval [CI], 3.6 to 6.8), with similar rates in the gluten group and the placebo group (5.9% [95% CI, 3.7 to 8.1] and 4.5% [95% CI, 2.5 to 6.5], respectively; hazard ratio in the gluten group, 1.23; 95% CI, 0.79 to 1.91). Rates of elevated levels of anti-transglutaminase type 2 and antigliadin antibodies were also similar in the two study groups (7.0% [95% CI, 4.7 to 9.4] in the gluten group and 5.7% [95% CI, 3.5 to 7.9] in the placebo group; hazard ratio, 1.14; 95% CI, 0.76 to 1.73). Breast-feeding, regardless of whether it was exclusive or whether it was ongoing during gluten introduction, did not significantly influence the development of celiac disease or the effect of the intervention. CONCLUSIONS: As compared with placebo, the introduction of small quantities of gluten at 16 to 24 weeks of age did not reduce the risk of celiac disease by 3 years of age in this group of high-risk children. (Funded by the European Commission and others; PreventCD Current Controlled Trials number, ISRCTN74582487.).

Long-term outcome of tumor necrosis factor alpha antagonist's treatment in pediatric Crohn's disease.

BACKGROUND: Anti tumor necrosis factor alpha (TNFα) agents have become widely used in pediatric inflammatory bowel disease (IBD). So far, only few studies examined the long-term results of anti-TNFα treatment in children with IBD. METHODS: The long-term outcome of pediatric patients with IBD was assessed retrospectively in a multicenter cohort of children treated with anti-TNFα beyond induction treatment. Short- and long-term response rates, predictors for loss of response, data on growth and laboratory parameters were assessed. RESULTS: 120 patients [101 crohn's disease (CD), 19 ulcerative colitis (UC) or indeterminate colitis (IC)] received either infliximab or adalimumab. The mean age at initiation of anti-TNFα was 13.4 ± 3.9 years and the median duration of anti-TNFα treatment was 15 months (range: 2-90). Overall, 89% of the cohort experienced short-term response following induction. Response was associated with improvement in weight and BMI Z-scores (p<0.001) but not with linear growth. Responders experienced a significant decrease in erythrocyte sedimentation rate (ESR) and C reactive protein (CRP) during treatment (p<0.001). Albumin and hemoglobin both improved but only albumin increased significantly (p<0.001). The cumulative probability of losing response to anti-TNFα treatment was 17%, 38%, and 49% after 1, 3, and 5 years, respectively. Responders had a significantly lower weight and BMI Z-scores at initiation of anti-TNFα treatment in compared to non-responders (p=0.04 and 0.02 respectively). CONCLUSIONS: Our long term cohort supports the current evidence on the effectiveness and safety of anti-TNFα treatment in children with IBD. Response to treatment was interestingly associated with lower weight and BMI.

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

The molecular basis for primary hereditary hypertriglyceridemia has been identified in fewer than 5% of cases. Investigation of monogenic dyslipidemias has the potential to expose key metabolic pathways. We describe a hitherto unreported disease in ten individuals manifesting as moderate to severe transient childhood hypertriglyceridemia and fatty liver followed by hepatic fibrosis and the identification of the mutated gene responsible for this condition. We performed SNP array-based homozygosity mapping and found a single large continuous segment of homozygosity on chromosomal region 12q13.12. The candidate region contained 35 genes that are listed in Online Mendelian Inheritance in Man (OMIM) and 27 other genes. We performed candidate gene sequencing and screened both clinically affected individuals (children and adults with hypertriglyceridemia) and also a healthy cohort for mutations in GPD1, which encodes glycerol-3-phosphate dehydrogenase 1. Mutation analysis revealed a homozygous splicing mutation, c.361-1G>C, which resulted in an aberrantly spliced mRNA in the ten affected individuals. This mutation is predicted to result in a truncated protein lacking essential conserved residues, including a functional site responsible for initial substrate recognition. Functional consequences of the mutation were evaluated by measuring intracellular concentrations of cholesterol and triglyceride as well as triglyceride secretion in HepG2 (hepatocellular carcinoma) human cells lines overexpressing normal and mutant GPD1 cDNA. Overexpression of mutant GPD1 in HepG2 cells, in comparison to overexpression of wild-type GPD1, resulted in increased secretion of triglycerides (p = 0.01). This finding supports the pathogenicity of the identified mutation.

Celiac disease screening assays for children younger than 3 years of age: the performance of three serological tests.

BACKGROUND AND AIMS: The optimum serological test for celiac disease (CD) in young children is not known. The objective of our study was to compare the performance of three serological tests (IgA + IgG DGP, IgA TTG, and IgA + IgG EMA) for children younger than 3 years of age. METHODS: We identified all subjects younger than 3 years of age (n = 6,074) that were tested for CD serology and included those with biopsy data. Patients were classified as group 1 (n = 47): patients with confirmed CD or group 2 (n = 12): patients with normal biopsy findings. RESULTS: There was statistically significant difference between group 1 and group 2 with regard to number of patients with positive IgA TTG (97.87% vs. 50%, P < 0.001), IgA + IgG DGP (100% vs. 77.78%, P = 0.007), and IgA + IgG EMA (95.65% vs. 9.09%, P < 0.001). There was a significantly positive correlation between Marsh-Oberhuber score on the small duodenal biopsies and all tests. Analysis of sensitivity and specificity showed that manufacturer's levels had high sensitivity for all tests (IgA TTG 97%, IgA + IgG DGP 100%, IgA + IgG EMA 96%), however specificity was low for IgA + IgG DGP (44%) and IgA TTG (50%) but not for IgA + IgG EMA (91%). CONCLUSIONS: For children younger than 3 years of age, IgA + IgG EMA is highly sensitive and specific. Use of IgA + IgG DGP or IgA TTG as a single serological marker is insufficient for definite diagnosis of CD in this age group. Based on our results, it might be reasonable to postpone the biopsy for asymptomatic children with negative EMA.

The role of duodenal bulb biopsy in the diagnosis of celiac disease in children.

BACKGROUND AND STUDY AIMS: It is suggested that for celiac disease (CD) diagnosis, biopsies should also be taken from the duodenal bulb. Whether bulb biopsies suggestive of CD can be found on upper gastrointestinal endoscopy (EGD) done for reasons other than CD diagnosis is not clear. The aim of our study was to evaluate the contribution of routine bulb biopsies to the diagnosis of CD, when taken regardless of prior suspicion of CD. METHODS: The study included 96 children who underwent EGD for suspected CD and a control group of 69 children who underwent EGD for reasons other than CD. The mucosal changes were evaluated using the Marsh-Oberhuber classification. RESULTS: Among the 87 children diagnosed with CD, we identified 6 patients (7%) with typical histologic findings only in the bulb (Marsh 3), but also 1 patient (1.1%) with findings only in the distal duodenum (Marsh 2). In 20 patients (23%) the histological changes were more severe in the bulb. One patient had more prominent findings in the second part of the duodenum. None of the control patients had histological changes compatible with CD in the bulb or the second part of the duodenum. CONCLUSIONS: Our findings suggest that when CD is suspected, biopsies should be taken from both locations (bulb and second part) as mucosal changes may emerge only at one site. Nevertheless, the presence of characteristic histology on duodenal bulb biopsies might be sufficient for the diagnosis of CD.

Adalimumab treatment in children with refractory Crohn's disease.

Information on safety and efficacy of adalimumab in children with Crohn's disease (CD) is limited. We present a case-series of 14 children with severe CD treated with adalimumab during a 3.5-year period. Fourteen children (nine boys, five girls), aged 13.9 years (range 1.9-19.1) were treated with adalimumab during 12.5 months (range 7-42). All had steroid or immunosuppression-drugs refractory disease. Ten patients (71%) had been previously treated with infliximab, 13/14 were treated with different immunosuppressive drugs and all were steroid-dependent or resistant. Seven children (50%) showed full clinical response and 5/14 (35%) improved partially. Two children (15%) had loss of response after a period of transient improvement. Adalimumab treatment enabled complete steroids withdrawal in 8/14 (57%) of steroid-dependent children. Currently, five children are in complete remission with adalimumab monotherapy for a median 14 months (range 9-24). Adalimumab may induce and maintain remission in children with severe, refractory CD. Prospective safety and efficacy confirmation of this data in children is necessary.

Olive oil-based intravenous lipid emulsion in pediatric patients undergoing bone marrow transplantation: a short-term prospective controlled trial.

BACKGROUND & AIMS: Parenteral nutrition (PN) is an important component of the supportive care of children undergoing bone marrow transplantation (BMT). The study aimed to assess short-term safety and metabolic effects of an olive oil-based (OO) lipid emulsion compared with a MCT/LCT (M/L) emulsion in the clinical setting of pediatric BMT. METHODS: Twenty-eight pediatric BMT patients (age 1-18 years) expected to need PN support for at least 2 weeks, were prospectively enrolled and randomly assigned to receive either OO or M/L lipid emulsions within PN. Clinical and routine laboratory parameters, plasma fatty acids profile, vitamin E and peroxidation status were recorded at baseline and after 14 days of PN. RESULTS: No significant differences were found for hematological parameters, liver enzymes, vitamins, plasma peroxidation status, percentage and time to engraftment. Taking into consideration the baseline fatty acids levels, the OO group showed higher oleic acid (p=0.012), linoleic (p=0.012) and arachidonic acid (p=0.002) enrichment but similar eicosapentanoic and docosahexanoic acids levels compared to the M/L group at day 14. Cholesterol levels decreased significantly in the OO group after 14 days on PN (p=0.017). CONCLUSIONS: OO lipid emulsion was well tolerated, maintained essential fatty acids and peroxidation status, and generated a favorable plasma lipid profile. In this study short-term use of OO intravenous lipid emulsions was safe in children who needed PN support during BMT.

Nutritional supplementation with polymeric diet enriched with transforming growth factor-beta 2 for children with Crohn's disease.

BACKGROUND: A polymeric diet rich in transforming growth factor-beta 2 used as a single nutrient has been shown to induce remission in 79% of children with Crohn's disease. OBJECTIVES: To summarize the experience of several pediatric gastroenterology units in Israel using a TGFbeta2-enriched polymeric diet (Modulen IBD) supplementation in children and adolescents with Crohn's disease. METHODS: In a retrospective study we reviewed the charts of 28 children with Crohn's disease (10 girls, 18 boys) who received, in addition to conventional treatment, Modulen IBD as a supplement to their regular nutrition. These children were compared with 18 children supplemented with standard polymeric formula (Ensure Plus) and 18 children without formula supplementation. We recorded clinical manifestations, growth, and the Pediatric Crohn's Disease Activity Index before and after initiation of the polymeric diet. RESULTS: The Modulen-treated children showed a significant decrease in PCDAI from 34.3 to 15.7 (P< 0.0001). A significant decrease in PCDAI was recorded also in the Ensure Plus group, from 35 to 22 (P= 0.02) but not in the non-supplemented group. Significant improvements in body mass index (P = 0.01) and erythrocyte sedimentation rate (P= 0.03) were recorded at follow-up (median 3.4 months) only in the Modulen IBD group. CONCLUSIONS: In this cohort of children with Crohn's disease, supplementation of the diet with Modulen IBD as well as supplementation with Ensure Plus was associated with a decrease in PCDAI. The children supplemented with Modulen IBD also showed improvement in BMI, suggesting an additional advantage of nutritional therapy in children with this disease.

Paraoxonases are associated with intestinal inflammatory diseases and intracellularly localized to the endoplasmic reticulum.

We demonstrated previously that the paraoxonase (PON1/2/3) genes and proteins are expressed in human intestinal biopsies and in Caco-2 cells. The current study aims were to explore whether PON1/2/3 expression is different in inflammatory bowel diseases (IBD) or celiac disease compared to healthy controls, and to explore the intracellular localization of PON1/2/3. Our results showed that significantly fewer biopsies expressed PON1 and PON3 in the duodenum of celiac patients (PON1, P<0.0001; PON3, P=0.03), in the terminal ileum of Crohn's patients (PON1, P=0.001; PON3, P=0.008), and in the colon of UC patients (PON1, P=0.02; PON3, P=0.06) compared to controls. Since all three disorders share markedly elevated inflammatory mediators we explored the PON1/2/3 mRNA expression on cytokine stimulation. No changes were observed in Caco-2 and HT29 cells. Immunofluorescence experiments localized PON1/2/3 exclusively to the endoplasmic reticulum (ER) in both CaCo-2 and HT29 cells. These results demonstrate for the first time a novel relationship between PON1 and PON3 expression and several inflammatory gastrointestinal disorders. Together with the localization of PON1/2/3 enzymes to the ER, it may be suggested that PON1/2/3 may have extracellular functions as part of the host response in IBD and celiac disease.

Tissue transglutaminase antibodies are a useful serological marker for the diagnosis of celiac disease in patients with Down syndrome.

BACKGROUND: Celiac disease (CD) is overrepresented among patients with Down syndrome (DS), who frequently lack any typical symptoms. Therefore, screening for CD is recommended in this high-risk group. The aim of the study was to determine the prevalence of CD in Arab children with DS and evaluate the contribution of immunoglobulin (Ig) A and IgG anti-gliadin antibodies (AGA), IgA and IgG tissue transglutaminase (TTG) antibodies, and IgA anti-endomysial antibodies (EMA) to screen for CD in children with DS. PATIENTS AND METHODS: A total of 52 Arab patients with DS and 52 healthy Arab control subjects were studied for CD using various serological markers. Data on age, sex, weight, height, gastrointestinal symptoms, and endocrine abnormalities were recorded. Human leukocyte antigen (HLA) was studied in patients undergoing small intestinal biopsy. RESULTS: Five patients with DS were IgA TTG-positive and only 1 patient with DS was IgG TTG-positive. EMA was negative in all patients with DS. TTG (IgA and IgG) and EMA were negative in all control children. IgA AGA was positive in 12 patients with DS and 3 control subjects (P = 0.02), whereas IgG AGA was positive in 41 patients with DS and 26 control subjects (P = 0.004). Only children testing positive for TTG underwent upper endoscopy with duodenal biopsy. Two children with DS were diagnosed with CD. Both patients were IgA TTG-positive. One was HLA DQ2-positive and another was negative for HLA DQ2 and DQ8. CONCLUSIONS: CD is prevalent (3.8%) in Arab patients with DS. Based on our cohort, IgA TTG is useful in diagnosing patients with CD and DS.

Population screening for celiac disease: follow up of patients identified by positive serology.

BACKGROUND AND AIM: A previous study that evaluated the prevalence of celiac disease (CD) in a cohort of healthy blood donors, found that 3.8% of subjects had positive serology for CD. The aim of the present study was to examine how the screening results and the diagnosis of CD affected these patients' lifestyle and attitude toward CD. METHODS: All subjects with positive serology for CD (n = 59) found in the previous study of healthy blood donors (n = 1571) were contacted and interviewed. Data collected included current and previous symptoms compatible with CD, medical follow up since being informed of positive serology for CD and adherence to gluten-free diet (GFD). Information was obtained regarding attitude towards the screening for CD, the results of the screening, and the effect of screening on subjects' lifestyle. RESULTS: Of the 59 subjects, 51 were available for telephone interview, including all 10 subjects diagnosed with CD (positive serology and biopsy), 17/20 with positive serology and normal intestinal mucosa, and 24/29 with positive serology who refused to undergo intestinal biopsy. Of the 10 patients diagnosed with CD, four adhere to GFD. Only 1/17 subjects with normal intestinal mucosa repeated serology. Two of the 24 who initially refused a biopsy, underwent an intestinal biopsy, and one of them was currently diagnosed with CD. Only one patient diagnosed with CD had all his family members screened for CD. CONCLUSIONS: The data suggest that many of the patients identified in this screened population do not ultimately benefit from the purpose of the screening, which was early identification and treatment of a common disease with potential serious consequences.

Impaired gastric myolectrical activity in patients with cystic fibrosis.

BACKGROUND: Cystic fibrosis (CF) is frequently associated with gastrointestinal complaints that can be due to gastrointestinal dysmotility. Electrogastrography (EGG) is an attractive, non-invasive procedure to assess gastric electric activity. The aims of our study were to investigate EGG abnormalities in pancreatic sufficient and pancreatic insufficient CF patients, and to examine whether EGG correlates with gastric emptying as assessed by scintigraphy. METHODS: EGG was performed in 23 CF patients (12 pancreatic sufficient patients, 11 pancreatic insuffficient) by using cutaneous recording pre- and postprandialy. Pre- and postpostprandial EGG indexes were compared to 19 healthy control patients. Gastric emptying was assessed simultaneously by gastric scintigraphy in 11 of the 23 CF patients. Six patients underwent a repeated scintigraphy recording following a month of treatment with cisapride. RESULTS: Abnormal patterns of EGG were found in 78.3% of CF patients compared to 31.3% of controls during fasting (p