[Show abstract][Hide abstract] ABSTRACT: Background:
Ghrelin and obestatin are peptides of the gut-brain axis affecting appetite and gastrointestinal motility.
We conducted a cross-sectional, case-control study to determine pre- and postprandial serum levels of total ghrelin and obestatin along with gastric emptying scintigraphy in children with symptoms suggestive of delayed gastric emptying time (GET), not attributable to any identifiable cause.
Twenty children with symptoms suggestive of delayed GET, of whom 9 had delayed GET, and 20 age-matched healthy children were enrolled. Preprandial ghrelin and obestatin were higher compared to controls (GHR mean level in patients and controls: 1162 pg/mL and 401 pg/mL respectively; P<0.05; OB mean level in patients and controls: 417 pg/mL and 325 pg/mL respectively; not statistically significant). Postprandial ghrelin was significantly decreased in the subgroup of patients with delayed GET (GHR mean level in children with normal and prolonged GET: 1237 pg/mL and 584 pg/mL respectively; P<0.05).
Obestatin and ghrelin were deranged in children with symptoms indicative of delayed GET of unexplained etiology. Gastric emptying was prolonged in almost half of the patients thus gastric emptying scintigraphy should be considered in the investigation of children with such symptomatology.
[Show abstract][Hide abstract] ABSTRACT: Evaluation of the prevalence of coeliac disease (CD) in Greek paediatric population.
The project consists of two parts: (i) a pilot study of preschool children aged 2–6 years to test the feasibility and diagnostic accuracy of community-based screening and (ii) a CD prevalence study, by random clustered sampling and proportionate stratification of various geographical areas in Greece. Trained nonmedical staff performed a rapid immunochromatographic test to detect IgA antibodies to tTG-IgA and IgA deficiency. Toddlers with positive results were referred to a paediatric gastroenterologist for further assessment with serum anti-tTG IgA and EMA-IgA. Children with positive serum anti-tTG and anti-EMA underwent upper gastrointestinal tract endoscopy and small bowel biopsy and were subsequently in gluten-free diet.
In this project participated 1136 toddlers, who were tested at school. The prevalence of positive rapid anti-tTG screening was 1:154, of IgA deficiency 1:120 and of biopsy-proven CD 1:154. The prevalence of CD from this pilot study served as expected prevalence value for sample size calculation for the main prevalence study.
This protocol using rapid immunochromatographic test for the detection of both IgA deficiency and CD is easy to be performed by nonmedical staff in a community setting, enabling the accurate identification of new CD cases among asymptomatic population.
[Show abstract][Hide abstract] ABSTRACT: Primary intestinal lymphangiectasia (PIL) or Waldmann's disease is a rare protein-losing gastroenteropathy of unknown etiology. Less than 200 cases have been reported globally. Patients may be asymptomatic or present edema, lymphedema, diarrhea, ascites and other manifestations. We report two pediatric cases with PIL with extremely different outcome in a 3-year follow-up period. The first patient presented with persistent diarrhea, hypoalbuminemia and failure to thrive, while the second patient presented with an abrupt eyelid edema. Hypoproteinemia was the common laboratory finding for the two patients and upper gastrointestinal endoscopy established the diagnosis. The first patient relapsed five times during the follow-up period after the diagnosis had been made and required intravenous albumin administration and micronutrient supplementation. The second patient revealed normal gastrointestinal endoscopy 4 months after the diagnosis had been established; he followed an unrestricted diet and remained asymptomatic throughout the follow-up period. PIL can be either severe, affecting the entire small bowel, leading to lifetime disease, or sometimes affects part of the small bowel, leading to transient disorder.
Case Reports in Gastroenterology 03/2013; 7(1):153-63. DOI:10.1159/000348763
[Show abstract][Hide abstract] ABSTRACT: Historically, gastroparesis is characterized by delayed gastric emptying of fluids and/or solids without evidence of a mechanical gastric outlet obstruction. To provide a thorough, evidence-based overview of the diagnosis, treatment, outcome and future advances for gastroparesis in children, a web search (PubMed, Cochrane Database of Systematic Reviews, EMBASE, Clinical Evidence) was performed. Original articles and reviews were identified, examined and included as appropriate. The prevalence of gastroparesis is vague in adults and unknown in children. It is suspected on the presence of symptoms indicating gastric dysmotility (nausea, vomiting, early satiety, postprandial fullness, failure to thrive, weight loss) and is confirmed on the demonstration of delayed gastric emptying. It can be assessed with various methods from which gastric emptying scintigraphy of a radiolabeled solid meal is considered as the golden standard. Therapeutic approaches include: dietary modifications, medical treatment (prokinetics, antiemetics, intrapyloric injection of botulinum toxin, enteral feeds via jejunostomy, total parenteral nutrition) and surgical interventions (laparoscopic placement of gastric pacemaker) aiming at alleviating symptoms and maintaining optimal nutritional status. Gastroparesis in children can be challenging to diagnose and treat. Specific protocols for the evaluation of gastric emptying and for a stepwise management are required to optimise future outcomes.
Annals of Gastroenterology 03/2013; 26(3):204-211.
[Show abstract][Hide abstract] ABSTRACT: Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal (GI) tract, affecting about 2% of the population. Most cases of Meckel's diverticula are asymptomatic. The diagnosis of symptomatic MD is often difficult to make. We report the case of an 8-year-old boy who presented with GI bleeding due to MD. The diagnostic difficulties after an initial negative endoscopic evaluation and the diagnostic value of the various endoscopic procedures are discussed. The patient had suffered from bright red stools for 20 h before hospital admission. GI scintigraphy with (99m)Tc-Na-pertechnetate was negative for heterotopic gastric tissue in the small bowel area. Colonoscopy performed in order to exclude Crohn's disease was also negative. He was placed on ranitidine at a dose of 6 mg/kg body weight twice daily. The patient remained asymptomatic over a period of 6 months before he was readmitted due to macroscopic rectal bleeding. Upper endoscopy and colonoscopy used to investigate the source of bleeding showed normal macroscopic findings. Radiolabeling of blood constituents with (99m)Tc on delayed imaging showed radionucleotide concentration in the ascending and transverse colon suggestive of a lesion in the ileocecal area. Further investigation with the use of wireless capsule endoscopy revealed a MD. Wireless capsule endoscopy may thus be indicated for patients with GI blood loss when other diagnostic methods, such as upper and lower endoscopy and colonoscopy, have failed to identify the source of bleeding.
Case Reports in Gastroenterology 09/2012; 6(3):650-9. DOI:10.1159/000343593
[Show abstract][Hide abstract] ABSTRACT: Background. Pulmonary hypertension (PH) is an often complication of severe cystic fibrosis (CF); however, data on the presence and impact of pulmonary vasculopathy in adult CF patients with milder disease, is very limited. Aim. To investigate, for the first time, the impact of systolic pulmonary arterial pressure (PASP) on maximal exercise capacity in adults with mild-to-moderate cystic fibrosis, without PH at rest. Methods. This is a Case Control study. Seventeen adults with mild-to-moderate CF, without PH at rest (cases) and 10 healthy, nonsmoking, age, and height matched controls were studied. All subjects underwent maximal cardiopulmonary exercise testing and echocardiography before and within 1 minute after stopping exercise. Results. Exercise ventilation parameters were similar in the two groups; however, cases, compared to controls, had higher postexercise PASP and decreased exercise capacity, established with lower peak work rate, peak O(2) uptake, anaerobic threshold, and peak O(2) pulse. Furthermore, the change in PASP values before and after exercise was strongly correlated to the parameters of exercise capacity among cases but not among controls. Conclusions. CF adults with mild-to-moderate disease should be screened for the presence of pulmonary vasculopathy, since the elevation of PASP during exercise might contribute to impaired exercise capacity.
Pulmonary Medicine 07/2012; 2012:252345. DOI:10.1155/2012/252345
[Show abstract][Hide abstract] ABSTRACT: The Cystic Fibrosis database includes amongst the 1893 gene mutations and polymorphisms a lot of missense mutations, the disease status of which still remains unproven. In populations with high rates of CFTR mutation heterogeneity, molecular diagnosis is difficult often causing counseling difficulties especially in cases of rare and/or novel mutations.
Approaches to counseling in cases of novel variants.
Thirty-seven novel variants (4 synonymous, 24 missense, 2 frameshift and 10 intronic substitutions) were identified and evaluated with the help of in silico tools.
In a diagnostic environment the answers have to be given within a specific timeframe, the in silico tools in combination with the phenotype offer some help but their diagnostic value is limited and cannot be used in isolation for the determination of the severity of the mutation.
Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society 02/2012; 11(4):344-8. DOI:10.1016/j.jcf.2012.01.004 · 3.48 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Citrulline is a nonprotein amino acid synthesized in the small intestine. The aim of this study is to explore plasma citrulline levels in children with celiac disease (CD) and monitor the time-related changes of these levels after initiation of a gluten-free diet (GFD).
Fasting-plasma citrulline levels were determined by high-performance liquid chromatography in (i) 23 patients with CD before the institution of GFD, (ii) 20 patients with CD under treatment for more than 2 years responsive to a GFD, (iii) 10 children with gastrointestinal symptoms and normal small bowel biopsy, and (iv) 20 healthy controls. In group A, citrulline levels were also measured after 1, 3, 6, and 12 months on a GFD.
Mean plasma citrulline levels were lower in untreated patients with CD (24.5±4.9) than in patients on a GFD (31.2±6.7 μmol/l, P<0.001), patients with gastrointestinal symptoms and normal intestinal mucosa (30.3±4.7 μmol/l, P<0.01), and healthy controls (32.4±7.5 μmol/l, P<0.001). In untreated patients with CD,an inverse correlation was observed between citrulline concentrations and the severity of villous atrophy (r=-0.67, P<0.01). After 1 month on a GFD, patients had significantly higher levels than before diet (P<0.05) and after 3 months on diet, levels were similar to those observed in the healthy controls.
Plasma citrulline levels are lower in celiacs reflecting small bowel involvement in this disease. After a short period on GFD, citrulline levels increased rapidly, indicating that citrulline is a sensitive marker of the positive effect of GFD on intestinal repair.
European journal of gastroenterology & hepatology 03/2011; 23(3):245-9. DOI:10.1097/MEG.0b013e3283438ad7 · 2.25 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The aim of the study was to evaluate adiponectin (AD) serum concentrations in 43 stable CF patients and 27 healthy subjects and to correlate them with their nutritional status. Body Composition (Bioelectrical Impedance), visceral/subcutaneous adipose tissue (VAT-SAT) in CF patients (CT-scan at L4), insulin resistance (HOMA-IR) and AD serum concentrations (ELISA) were studied. CF patients and controls had comparable weight, height, %BF, %FFM, fasting glucose, insulin and insulin resistance. CF patients had significantly lower BMI-SDS. CF males had higher %FFM and total FFM and lower %BF and total BF than females (p<0.001). Serum AD was higher in CF patients than controls (11.53+/-5.37 vs. 9.07+/-4.41 microg/ml) and comparable between females and males. AD was lowest among young malnourished patients (8.06+/-1.85 microg/ml) and highest among young patients with normal nutrition (14.56+/-7.69 microg/ml). Patients with biliary cirrhosis had higher levels than patients with normal liver (10.52+/-5.49 vs. 14.04+/-4.52 mug/ml, p<0.05). AD correlated with %BF, %FFM, FFM (kg) (p<0.05).VAT was significantly increased in malnourished patients. AD was not affected by VAT. CONCLUSIONS: Adiponectin is higher in CF patients than healthy individuals. It is decreased in malnourished young patients and increased in patients with normal nutrition and in patients with liver disease. This may be attributed to the reduced BF and to the energy deficit inherent to the disease.