Barriers to and requirements for a successful transition in inflammatory bowel disease from pediatric to adult care in Greece.

Background: The incidence of pediatric-onset inflammatory bowel disease (IBD) is rising, while the relapsing and often severe nature of IBD, and its impact on emotional and pubertal development and social maturation underline the need for a successful transition from pediatric to adult care. Methods: A web-based survey was distributed via the Hellenic Group for the Study of IBD, the Hellenic Society of Gastroenterology Department of North Greece, and the Hellenic Society of Pediatric Gastroenterology, Hepatology, and Nutrition. Results: The questionnaire was answered by 98 individuals (78 adult and 20 pediatric gastroenterologists, out of 357 and 30, respectively). The response rate was 25.3%. A higher response rate was found among pediatric (66.6%) vs. adult gastroenterologists 21.8% (P<0.001). Pediatric gastroenterologists believed that the appropriate age for transition was either 16-17 or 17-18 years, whereas 59% of the adult gastroenterologists chose the age group of 16-17 years. Both adult and pediatric gastroenterologists stated that the most significant initiators for a successful transition process were cognitive maturity and patients' ability to manage their disease independently. The lack of communication and collaboration between pediatric and adult gastroenterologists was the main barrier to the transition process, as identified by adult gastroenterologists (27.7%). In contrast, 43.5% of pediatric gastroenterologists suggested that differences in the follow up of patients with IBD between pediatric and adult clinics were the main restrictions. Conclusion: These results highlight the need for a transitional education program for pediatric IBD patients, and the importance of improving collaboration among adult and pediatric gastroenterologists.

De novo HBV Hepatitis in a Child with Liver Transplantation.

Background: Omental torsion (OT) presents as a rare, infrequent pathology with often non-specific symptoms. This condition occurs when the greater omentum is twisted around its axis, producing perfusion defects and vascular impairment of the organ. This case report describes an overweight 26-year-old Caucasian man presenting with acute abdomen in previous appendectomy, whose definitive surgical diagnosis was omental torsion. Omental torsion is a rare pathology regarding the causes of acute abdomen associated with a challenging diagnosis. Case report: We report about a female toddler with liver transplantation due to extrahepatic biliary atresia, who was detected to have positive HBsAg, 27 months after transplantation. Before liver transplantation, routine serologic assessments were negative for HBV infection, the child was vaccinated with three doses of HBV vaccine and developed seroprotective Abs titers. Organ donor was the father, who was negative for HBV infection had negative anti-HBc and had seroprotective titers of anti HBs. A PCR assay in our patient revealed the presence of serum HBV DNA with an increased viral load. The patient started antiviral treatment with Entecavir and had serological response within three months, showing elimination of serum HBV DNA and HBsAg values. Serological investigation of all family members and information from the transplantation unit did not reveal the infection source. Conclusion:de novo Hepatitis B in liver recipients is a rare phenomenon. In donor positive anti-HBc cases, it appears as reactivation of HBV infection. There are very few published cases in which recipients developed de novo HBV hepatitis, despite seronegative HBcAb donors. Caregivers should always be alert for de novo hepatitis B in liver transplanted children as loss of immunity could be an unexpected phenomenon, despite pre-transplant negative serology of the donor and recipient as so as despite seroprotective Abs titers after immunisation of the recipient.

Inflammatory Bowel Disease in Children and Adolescents - a Retrospective Study of 13 Years of Records Investigating Potential Prognostic Factors.

Purpose: To assess the landscape of management of pediatric inflammatory bowel disease (IBD) patients in Greece and investigate possible prognostic factors for the disease outcome. Method: The medical records of all IBD patients who visited the gastroenterology divisions of two university pediatric clinics as in- or outpatients over 13 years were examined. Results: Twenty-seven females and 25 males were included in the study. Ulcerative colitis (UC) was diagnosed in 46% of cases, Crohn's Disease (CD) in 33% and unclassified IBD (IBD-U) remained the diagnosis in 21%. The CRP level was elevated in 68% of cases at diagnosis, whereas only 27.4% of patients had ESR levels and platelet counts within the age-adjusted normal range. No parameter derived from patient history, physical examination or laboratory and imaging was found to influence the time to diagnosis. Abdominal pain and lack of diarrhea at the time of diagnosis were significantly associated with the need for biologic therapy during the disease course in CD. Consistent with the "step-up" approach the treating physicians practiced, an increased number of relapses correlated with the addition of biologics in the treatment of both CD and UC patients (P=.03 and P=.002, respectively). Conclusion: It is the first time that clinical data regarding IBD pediatric patients in Greece were reviewed. Some clinical and imaging factors were associated with more aggressive disease, an increased need for biological treatment and frequent hospitalizations for IBD flares. Moreover, it was observed that the clinical features of IBD in Greek children were similar to those in other countries.

Thiamine Deficiency in a Child with Short Bowel Syndrome and Review.

Thiamine (vitamin B1) is a water-soluble vitamin that is not endogenously synthesized in humans. It is absorbed by the small intestine, where it is activated. Its active form acts as a coenzyme in many energy pathways. We report a rare case of thiamine deficiency in a 3.5-year old boy with short bowel syndrome secondary to extensive bowel resection due to necrotizing enterocolitis during his neonatal age. The patient was parenteral nutrition-dependent since birth and had suffered from recurrent central catheter-related bloodstream infections. He developed confusion with disorientation and unsteady gait as well as profound strabismus due to bilateral paresis of the abductor muscle. Based on these and a very low thiamine level he was diagnosed and treated for Wernicke encephalopathy due to incomplete thiamine acquisition despite adequate administration. He fully recovered after thiamine administration. After 1999 eight more cases have been reported in the PubMed mostly of iatrogenic origin.

Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case.

Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and failure to thrive. It has been associated with mutations in TTC37 and SKIV2L genes, which encode proteins of the SKI complex that contributes to the cytosolic degradation of the messenger RNA by the cell's exosome. We report a case of a male infant who suffered from typical symptoms and signs of trichohepatoenteric syndrome without immunodeficiency. The patient's genetic testing showed a very rare mutation in SKIV2L gene's 25 exons (p.Glu1038 fs*7 (c.3112_3140del)). Even though our patient was provided with total parenteral nutrition from birth, the child's death in the third year of age highlights the severity of the disease and the poor prognosis of this particular type of genetic predisposition.

Clinical applications of creatine supplementation on paediatrics.

Creatine plays a central role in energy metabolism and is synthesized in the liver, kidney and pancreas. In healthy patients, it is transported via the blood stream to the muscles, heart and brain with high and fluctuating energy demands by the molecule creatine transporter. Creatine, although naturally synthesized in the human body, can be ingested in the form of supplements and is commonly used by athletes. The purpose of this review was to assess the clinical applications of creatine supplementation on paediatrics. Creatine metabolism disorders have so far been described at the level of two synthetic steps, guanidinoacetate N-methyltransferase (GAMT) and arginine: glycine amidinotransferase (AGAT), and at the level of the creatine transporter 1(CrT1). GAMT and AGAT deficiency respond positively to substitutive treatment with creatine monohydrate whereas in CrT1 defect, it is not able to replenish creatine in the brain with oral creatine supplementation. There are also data concerning the short and long-term therapeutic benefit of creatine supplementation in children and adults with gyrate atrophy (a result of the inborn error of metabolism with ornithine delta- aminotransferase activity), muscular dystrophy (facioscapulohumeral dystrophy, Becker dystrophy, Duchenne dystrophy and sarcoglycan deficient limb girdle muscular dystrophy), McArdle's disease, Huntington's disease and mitochondria-related diseases. Hypoxia and energy related brain pathologies (brain trauma, cerebral ischemia, prematurity) might benefit from Cr supplementation. This review covers also the basics of creatine metabolism and proposed mechanisms of action.

Branched chain amino acids as adjunctive therapy to ketogenic diet in epilepsy: pilot study and hypothesis.

A pilot prospective follow-up study of the role of the branched chain amino acids as additional therapy to the ketogenic diet was carried out in 17 children, aged between 2 and 7 years, with refractory epilepsy. All of these patients were on the ketogenic diet; none of them was seizure free, while only 13 had more or less benefited from the diet. The addition of branched chain amino acids induced a 100% seizure reduction in 3 patients, while a 50% to 90% reduction was noticed in 5. Moreover, in all of the patients, no reduction in ketosis was recorded despite the change in the fat-to-protein ratio from 4:1 to 2.5:1. Although our data are preliminary, we suggest that branched chain amino acids may increase the effectiveness of the ketogenic diet and the diet could be more easily tolerated by the patients because of the change in the ratio of fat to protein.