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Our aim was to evaluate the usefulness of the 13C-urea breath test (UBT) for the diagnosis of Helicobacter pylori infection, for assessment of the efficacy of eradication therapy, and for post-treatment follow-up in children. Methods. Seventy-two patients who underwent endoscopy for symptoms related to the upper gastrointestinal tract were examined by rapid urease test, histology, and culture. The patients were also studied with serology and UBT. Results. Forty-seven of the 72 patients were diagnosed with H. pylori infection, based on the results of biopsy-based tests and serology. As an initial diagnostic test to detect H. pylori infection, the sensitivity of the UBT was 95%, which was comparable with that of histology (94%), rapid urease test (96%), and serology (91%) and was greater than that of culture (79%). The specificity of the UBT was 100%, which was comparable with that of the other four tests. The efficacy of eradication therapy was assessed by biopsy-based tests and the UBT in 24 H. pylori-positive patients. For this purpose, the sensitivities of UBT and histology were 100%, while the sensitivities of culture and the rapid urease test were 88%. The specificity was 100% for all of these tests. Eleven patients were assessed by biopsy-based tests and UBT after more than 6 months of post-treatment follow-up. There were no discordances between the results of the UBT and those of the biopsy-based tests in any of the patients. Conclusions. The UBT may be useful for detecting H. pylori infection in children with upper gastrointestinal tract symptoms, for assessment of the efficacy of eradication therapy, and for the follow-up evaluation of patients after the therapy.

Background. Mother-to-infant transmission of hepatitis C virus (HCV) could become the main route of HCV infection in the future because there are no methods available to prevent vertical infection. The aim of this study was to determine the incidence of mother-to-infant transmission in infants born to mothers who tested positive for anti-HCV antibodies and to elucidate associated risk factors for transmission. Methods. Screening was conducted for 16 800 pregnant women with an anti-HCV antibodies test, and 154 mothers were positive. From the positive group 141 mothers were enrolled in the study and their 147 infants were followed from birth for serum alanine aminotransferase activity, anti-HCV antibodies and HCV RNA. HIV infection was tested in 73 of 141 mothers, all of whom were negative. Results. Thirty-three infants were dropped from the study because they were followed for

Near-total pancreatectomy has been recommended as the treatment for persistent hyperinsulinemic hypoglycemia (PHH) in infants. However, recently there has been a report described that one third of 95% pancreatectomy failed to prevent hypoglycemia and more than two thirds had diabetes ultimately. The authors experienced 2 cases of PHH, which raise a query about the extensive pancreatectomy. Case 1: A female patient who manifested PHH shortly after birth underwent less extensive pancreatectomy twice at age 2 months and 8 years. After each operation, her clinical symptoms regressed, and she became free from the disease eventually. Histologic findings showed nesidioblastosis in which the islets clearly matured. Case 2: A male infant with PHH had an absolute indication for pancreatectomy. However, after a meticulous control of the blood glucose level with parenteral nutrition followed by continuous enteral nutrition feeding combined with medication, he became free from the disease. The current cases show there exist cases of PHH in which the islets mature and symptoms regress spontaneously. Therefore, we conclude near-total pancreatectomy is not always the treatment of choice. As an alternate strategy, long-term controlled feeding and medication combined with or without less extensive pancreatectomy should be considered with the expectation of spontaneous regression.

Congenital plasminogen activator inhibitor-1 (PAI-1) deficiency is an extremely rare disorder characterized by a bleeding diathesis that begins in childhood due to hyperfibrinolysis as a result of decreased PAI-1 activity. We now present 4 unrelated pediatric cases of congenital PAI-1 deficiency. All 4 patients had a history of recurrent episodes of subcutaneous bleeding beginning in early childhood. These episodes were characterized by abnormal prolonged bleeding after trauma, tooth extraction, and surgical procedures, as well as by rebleeding following initial hemostasis. The 2 female patients both had symptoms compatible with hypermenorrhea. The family history was positive in 2 of the 4 patients. Hemostatic screening studies in all 4 patients revealed no abnormalities. Testing for factor XIII antigen, von Willebrand factor antigen, ristocetin cofactor activity, α2-plasmin inhibitor (α2PI) activity, and plasminogen activity was normal. The euglobulin lysis times were shortened in all cases as compared with those in normal control subjects. None of the patients had elevated tissue plasminogen activator (tPA) antigen levels, but PAI activity was markedly decreased in all cases. Three of the patients also had reduced levels of PAI-1 antigen. There tended to be a reduction in tPA-PAI-1 complex in all cases. In addition, 2 patients had elevated PIC (plasmin-α2PI complex). Tourniquet tests were performed in 2 patients, with no appreciable rise in PAI-1 activity or PAI-1 antigen levels. The administration of tranexamic acid clearly improved hemorrhagic symptoms in these patients. We considered PAI-1 deficiency to be the likely etiology of the congenital bleeding diatheses in these 4 cases.

Alagille syndrome (AGS) is a congenital anomaly syndrome that affects liver, heart, pulmonary artery, eyes, face, and skeleton. Recently, mutations of the JAG1 gene, which encodes a ligand for the Notch receptor, have been identified in AGS patients. We investigated the JAG1 gene for genetic alterations in eight Japanese AGS patients, using fluorescence in situ hybridization (FISH), single strand conformation polymorphism (SSCP) analysis, and direct sequencing. Subtle genetic alterations were identified in six of the eight patients, including three frameshift mutations, two splice donor mutations, and one nonsense mutation. All alleles with identified mutations can be expected to produce non-functional truncated proteins without a transmembrane domain. There was no apparent correlation between the genotypes of the patients and their affected organs, although the phenotypes of the patients with mutations at the splice donor site were found to be less severe.

Background: The life expectancy of the population is rising. The number of octogenarian (80 years or older) undergoing endoscopy evaluation is rising. The utility of double balloon enteroscopy (DBE) procedure in Octogenarians have not been previously reported. Aim: To determine the safety and diagnostic yield of DBE procedure in the octogenarians. Methods: We reviewed our large prospectively collected DBE database from 2006 to 2011. The octogenarian patients aged 80 years or older were included in our study analysis. Patients' demographics along with DBE procedure indication, findings, and complications were recorded. The safety and diagnostic yield of DBE procedure was calculated by the frequency statistics. Results: A total of 1218 DBE procedure were performed from 2006 to 2011 at our tertiary referral center. Out of these DBE procedures, 108 DBE (60 antegrade and 48 retrograde approaches) performed in 86 different patient encounters among 68 octogenarian (54.4% Male) were included in our study analysis. The average age of these patients was 84 (80-95) years and BMI was 26.2 (18.6-45.13) kg/m2. The most common indication for DBE was overt bleeding 29.6% (See table below). The most common finding during these DBE was bleeding AVM (arterio-venous malformation) among 38% (n=33) encounters. The overall diagnostic (pertinent positive findings) or therapeutic yield of DBE was found to be 91.86% (79/86 encounters). The diagnostic and therapeutic yield was found to be 91% (71/ 78 encounters) for evaluation of gastrointestinal bleeding and 100% (5/5 encounters) for evaluation of suspected mass or bowel stricture among octogenarian. There was no immediate (

Background and Aims: The epidemiology of gastrointestinal disorder is poorly described among Japanese children. Our aim is to clarify the trend of GI diseases' prevalence at Pediatric GI practice in Japan over the last decade. Methods: Children and adolescents with GI symptoms from 2001 to 2011 were identified by endoscopic databases at Shinshu University Hospital and Showa Inan General Hospital. Procedures were performed by pediatric GIs and routine biopsies were taken from every landmark. The prevalence of newly diagnosed GI disorders, especially Helicobacter pylori related disorders, eosinophilic gastrointestinal diseases (EGIDs) and inflammatory bowel disorder (IBD), are evaluated. Results: In total, 772 procedures (534 esophagogastroduodenoscopy[EGD] and 237 colonoscopy[CS]) were performed for 552 Japanese children and adolescents (54% female, average 11.47±4.57 year). Of 552 patients, 93 (18%) had H. pylori infection, and 27 (29%) of H. pylori positive subjects had peptic ulcer (22 duodenal ulcer and 5 gastric ulcer). Twenty-two patients (4%) were diagnosed as EGIDs (11 eosinophilic gastroenteritis, 11 eosinophilic colitis and no patient of eosinophilic esophagitis despite routine biopsies from esophagus). Twelve patients were diagnosed as IBD (10 Ulcerative colitis and 2 Crohn's disease). The trend of each disorder was shown in Figure 1. Conclusion: EGIDs have increased dramatically in a few years. On the other hand, H. pyori infection decreased almost one-fifth over 10 years in Japanese children.

The combined deficiency of thyrotropin, growth hormone and prolactin, caused by PIT1 abnormality manifests in the homozygous or heterozygous state. We studied a patient having an allele with Arg271 Trp mutation, which produces clinical symptoms in heterozygotes by a dominant-negative effect. However, in the family, her father, grandmother and aunts had the same mutation without clinical symptoms, although the proband had typical phenotypic expression. We analyzed the PIT1 transcript in peripheral lymphocytes by reverse transcription- polymerase chain reaction and found monoallelic expression of normal allele in the father and grandmother and skewed pattern of biallelic expression in the proband. The phenotypic expression of PIT1 abnormality may depend on different transcription of the PIT1 gene

the potential involvement of histamine receptors was also examined in current studies. Both cimetidine (1 raM) and diphenhydramine (0.1raM), H2 and H1 histamine receptor antagonists respectively, had no effect on inhibition of 36C1 uptake by TDC. In conclusion, our studies, provide direct evidence for inhibition of human intestinal luminal CI'/OH (HCO~) exchange activity by bile acids. The results of our studies demonstrate that bile acid effects on the apical CI/OH exchange in Caco2 cells are not mediated via histamine receptors and involve a cAMP-independent but Ca + +, PKC and PI3 kinase-dependent pathways.

Our aim was to evaluate the usefulness of the 13C-urea breath test (UBT) for the diagnosis of Helicobacter pylori infection, for assessment of the efficacy of eradication therapy, and for post-treatment follow-up in children. Methods. Seventy-two patients who underwent endoscopy for symptoms related to the upper gastrointestinal tract were examined by rapid urease test, histology, and culture. The patients were also studied with serology and UBT. Results. Forty-seven of the 72 patients were diagnosed with H. pylori infection, based on the results of biopsy-based tests and serology. As an initial diagnostic test to detect H. pylori infection, the sensitivity of the UBT was 95%, which was comparable with that of histology (94%), rapid urease test (96%), and serology (91%) and was greater than that of culture (79%). The specificity of the UBT was 100%, which was comparable with that of the other four tests. The efficacy of eradication therapy was assessed by biopsy-based tests and the UBT in 24 H. pylori-positive patients. For this purpose, the sensitivities of UBT and histology were 100%, while the sensitivities of culture and the rapid urease test were 88%. The specificity was 100% for all of these tests. Eleven patients were assessed by biopsy-based tests and UBT after more than 6 months of post-treatment follow-up. There were no discordances between the results of the UBT and those of the biopsy-based tests in any of the patients. Conclusions. The UBT may be useful for detecting H. pylori infection in children with upper gastrointestinal tract symptoms, for assessment of the efficacy of eradication therapy, and for the follow-up evaluation of patients after the therapy.

Seventy-three infants born to HBeAg positive HBV carrier mothers were protected from neonatal HBV infection with our standard prevention schedule consisting of two doses of HBIG (0,2 mo) and three doses of HBV vaccine (2, 3, 5 mo). In 62 infants who successfully responded to HBV vaccine with a titer of anti-HBs greater than 2(3), anti-HBs titer was monitored for as long as 48 months (25.6 +/- 11.0 mo) and found to decrease as follows: 5.1 +/- 1.7 at 12 mo., 4.5 +/- 1.8 at 18 mo., 4.2 +/- 1.8 at 24 mo., 4.0 +/- 1.6 at 30 mo., 3.7 +/- 1.7 at 36 mo., 3.2 +/- 2.0 at 48 mo. During the follow-up period, eight HBV events (11.9%) were demonstrated: one case showed an increase of anti-HBs, three showed a reappearance of anti-HBc alone, three showed a reappearance of anti-HBc with increase of anti-HBs, and one became a chronic HBV carrier. All infants were further divided into three groups by their maximal response of anti-HBs to HBV vaccine: Group I (greater than or equal to 2(6)), Group II (2(3)-2(5)), and Group III (2(2) greater than or equal to). Group I sustained a higher titer from 12 to 30 months of age and had less HBV events than G-II and G-III. Our study suggests that acquisition of a high titer of anti-HBs is important in long-term prevention of HBV infection as well as in the neonatal period in infants born to HBeAg positive HBV carrier mothers.