Keisuke Jimbo

Microarray analysis of mucosal biopsy specimens in neonates with rectal bleeding: is it really an allergic disease?

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Outcome of infants presenting rectal bleeding: a retrospective study in a single institution.

Although rectal bleeding in infancy (RBI) is not a rare phenomenon, the clinical course of RBI is not fully understood.

Comparison of Gene Expression Between Pediatric and Adult Gastric Mucosa with Helicobacter pylori Infection

Although Helicobacter pylori infection among adults is a major risk factor for the development of gastric cancer and initial infection with H. pylori may occur before 5 years of age, the direct effects of H. pylori infection since childhood on gastric mucosa are unknown. The aim of this study was to evaluate gene expression in the H. pylori‐infected gastric mucosa of children.

Microarray analysis of gastric mucosa among children with Helicobacter pylori infection.

Background:  Although initial infection with Helicobacter pylori may occur before 5 years of age, the pediatric mucosal immune response against H. pylori is not clear. The aim of the present study was to evaluate immune responses in the H. pylori‐infected gastric mucosa of children using microarray and real‐time polymerase chain reaction (PCR) analysis of pediatric gastric samples.

Collagenous sprue in a 3-month-old infant.

Collagenous sprue (CS) is a severe malabsorption disorder, the etiology of which has not been well defined. Herein, we report the case of a 3‐month‐old infant with CS who responded to steroid and immunomodulator treatment and presented a thick subepithelial collagen band. A 3‐month‐old Japanese girl presented with severe watery diarrhea that lasted for 2 weeks. She was admitted to the referring hospital, but symptomatic improvement was not achieved with fasting and rehydration. Gastroduodenal endoscopy showed an edematous duodenal mucosal surface. Duodenal biopsy indicated severe villous atrophy with infiltration of mostly CD8‐positive T cells; and deposition of subepithelial collagen was confirmed. The subepithelial collagen deposits, however, had disappeared after treatment. Historically, child‐onset CS is extremely rare and this case is likely to be the youngest case of infantile CS. The present case suggests that CS should be considered as a differential diagnosis for intractable diarrhea, even in infants.

Usefulness of magnetic resonance angiography for the evaluation of varices at hepaticojejunostomy after liver transplantation.

A 7-year-old Japanese girl who had undergone living-donor liver transplantation (LT) at the age of 10 months for decompensated liver cirrhosis caused by biliary atresia presented with recurrent episodes of obscure gastrointestinal bleeding (GIB) with anemia. Over the following 6 years, she experienced five episodes of GIB requiring hospitalization. Subsequent evaluations including repeat esophagogastroduodenoscopy (EGD), colonoscopy (CS), contrast-enhanced computed tomography (CT), and Meckel’s scan all failed to reveal a bleeding source. However, varices at the site of hepaticojejunostomy were detected on abdominal ultrasonography and magnetic resonance angiography (MRA) at the age of 7 years. MRA might be more helpful than contrast-enhanced CT for identifying such bleeding.

Japanese clinical practice guidelines for allied disorders of Hirschsprung's disease, 2017

Despite the presence of ganglion cells in the rectum, some patients have symptoms similar to those of Hirschsprungs disease. A consensus has yet to be established regarding the terminology for these diseases. We defined this group of diseases as “allied disorders of Hirschsprungs disease” and compiled these guidelines to facilitate accurate clinician diagnosis and provide appropriate treatment strategies for each disease.

Host response genes associated with nodular gastritis in Helicobacter pylori infection

Chronic Helicobacter pylori infection in children induces lymphoid hyperplasia called nodular gastritis (NG) at the antral gastric mucosa. The aim of this study was to evaluate genes in gastric biopsy on microarray analysis, to identify molecules associated with NG on comparison with NG‐negative pediatric corpus tissue and with H. pylori‐infected adult tissue with atrophic gastritis (AG).

Assessment of the Family History of Patients With Ulcerative Colitis at a Single Center in Japan

Objectives: The prevalence of ulcerative colitis (UC) differs by country, which is likely due to differences in genetic factors among ethnicities. Moreover, the prevalence of pediatric UC with a family history (FH) is 4.1% in Japanese patients; its clinical course begins at an early age and is more severe. Recently, a genome-wide association study identified 3 new susceptibility loci for adult Japanese patients with UC. Methods: To assess the effects of FH in patients with UC, 60 children were enrolled. Age at diagnosis, clinical features of the initial symptoms, and family structure were assessed in patients with and without an FH. The 3 new loci were examined in patients who provided informed consent. Results: Of the patients with UC, 10 (16.7%) had an FH involving first-degree relatives, including 7 mothers, 1 father, and 2 sisters. There was a trend toward a younger age at onset in the positive FH group. There were, however, no significant differences in the clinical characteristics of the patients regardless of FH. From the genomic analyses, there were significant differences in the polymorphisms of the solute carrier family 26, member 3 (SLC26A3) between those with and without an FH. Conclusions: Although the etiology of UC remains unknown, there were no observed relation between clinical symptoms and FH. SLC26A3 may, however, contribute to the pathogenesis of UC in Japanese individuals with an FH.

Isolated autoimmune enteropathy associated with autoantibodies to a novel 28-kDa duodenal antigen.

A utoimmune enteropathy (AIE) is a rare gastrointestinal disorder characterized by protracted diarrhea with severe enteropathy and villous atrophy; no response to exclusion diets; presence of circulating anti-enterocyte antibodies, anti-goblet cell antibodies, or evidence of other autoimmune disease; and no severe immunodeficiency (1,2). Most patients with early-onset AIE carry mutation of foxp3 gene, a causative gene of immunedysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome (3,4). Although autoantibodies to enterocytes are hallmark of AIE, only 2 autoantigens, autoimmune enteropathyrelated 75 kDa antigen (AIE-75) and villin, have been identified (5,6). Herein, we report a 2-month-old boy with protracted diarrhea associated with severely disrupted intestinal mucosa and presence of autoantibodies to a novel 28-kDa antigen in the duodenum. The patient was born to non-consanguineous parents at 40 weeks’ gestation with birth weight of 2870 g. At 1 month of age, he was presented with severe diarrhea with sepsis, and was admitted to the referring hospital. He recovered from sepsis but still required total parenteral nutrition because of diarrhea unresponsive to antibiotics or fasting. At 2 month of age, he was transferred to National Center for Child Health and Development, for his second episode of sepsis. His body height and weight were 52 cm ( 3.1 standard deviation), and 4670 g (body mass index 17.2 percentile), respectively. Laboratory examination demonstrated hypoproteinemia (2.8 g/dL) and hypoalbuminemia (1.8 g/dL). Elevated fecal sodium (132 mEq/L) and chloride (123 mEq/L) levels, as well as decreased fecal osmotic gap (0.96 mOsm/L), were observed. Workups for enteric infection, immunodeficiency, mitochondrial dysfunction, and endocrinologi-