Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study.

Background: Glycogen storage disease (GSD) is an inherited disorder leading to abnormal glucose metabolism and glycogen accumulation, and is associated with various complications including hepatic adenoma and hepatocellular carcinoma. The aim of this study was to analyze the risk factors for hepatic adenoma and its malignant change, and the hepatocellular carcinoma-free survival rate in patients with GSD who developed adenoma.

Methods: A total of 72 patients with GSD who were enrolled from March 1982 to September 2013 at Seoul National University Children's Hospital were retrospectively analyzed, and the median follow-up period was 19.

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying Mutations and Phenotype Correlations in Children with Wilson Disease.

Background: Mutations in cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful in increasing the diagnostic yield in other genetic disorders with large deletions or insertions.

Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.

Aim: To investigate clinical profiles and mutations of ABCB11 in Koreans with progressive familial intrahepatic cholestasis 2 and review the differences between Koreans and others.

Methods: Of 47 patients with neonatal cholestasis, five infants had chronic intrahepatic cholestasis with normal γ-glutamyl transpeptidase. Direct sequencing analyses of ABCB11, including exons and introns, were performed from peripheral blood.

Genetic Polymorphisms in Autophagy-Associated Genes in Korean Children With Early-Onset Crohn Disease.

Objective: The aim of the present study was to investigate the genetic polymorphisms of the autophagy-associated genes autophagy-related 16-like 1 (ATG16L1), immunity-related GTPase M (IRGM), Unc-51-like kinase 1 (ULK1), and NOD2 with respect to early-onset Crohn disease (CD) among Korean children.

Methods: A total of 65 patients with CD from the Seoul National University Children's Hospital, from January 2000 to May 2012, and 72 unaffected controls were selected. Twelve different single nucleotide polymorphisms (SNPs) were analyzed (TaqMan assay: ATG16L1 rs2241880, IRGM SNPs [rs13361189, rs4958847, rs1000113, rs10065172, and rs72553867], ULK1 SNPs [rs12303764, rs10902469, and rs7488085], NOD2 SNPs [Arg702Trp and Gly908Arg]; direct sequencing: NOD2 leu1007fsinsC).

Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants.

Purpose: Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cases in order to define characteristic features of diencephalic syndrome.

Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations.

Infantile periods may have stronger genetic influences. Recently, studies on genetic defects in the interleukin-10 (IL-10) signaling pathway have provided new insights into inflammatory bowel disease (IBD). This study is to reveal whether mutations of IL-10 signaling pathway genes contribute to the phenotypes of IBD.

Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II.

Purpose: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum of UGT1A1 gene in Korean children with CN-2.

Methods: Five Korean CN-2 patients from five unrelated families and 50 healthy controls were enrolled.

Long term outcomes of pediatric liver transplantation according to age.

Liver transplantation (LT) has been the key therapy for end stage liver diseases. However, LT in infancy is still understudied. From 1992 to 2010, 152 children had undergone LT in Seoul National University Hospital.

Long-term outcomes of endoscopic variceal ligation to prevent rebleeding in children with esophageal varices.

After an episode of acute bleeding from esophageal varices, patients are at a high risk for recurrent bleeding and death. However, there are few reports regarding the long-term results of secondary prophylaxis using endoscopic variceal ligation (EVL) against variceal rebleeding in pediatrics. Thirty-seven, who were followed for over 3 yr post-eradication, were included in the study.

A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder that is characterized by the excessive accumulation of abnormal glycogen in the liver and muscles and is caused by a deficiency in glycogen debranching enzyme (amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL)) activity. To investigate the molecular characteristics of GSD III patients in Korea, we have sequenced the AGL gene in eight children with GSD III. All patients were compound heterozygotes.

Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism that results in accumulation of copper primarily in the liver, brain and cornea. Mutations in the WD gene, ATP7B, cause failure of copper excretion from hepatocyte into bile and a defective synthesis of ceruloplasmin. More than 500 mutations are now recognized, scattered throughout the ATP7B gene.

Interleukin-10 receptor mutations in children with neonatal-onset Crohn's disease and intractable ulcerating enterocolitis.

Neonatal-onset inflammatory bowel disease (IBD) accounts for only 0.25% of pediatric IBD cases. The molecular pathogenesis of IBD remains unclear.

Correlations of plasma citrulline levels with clinical and endoscopic score and blood markers according to small bowel involvement in pediatric Crohn disease.

Objective: Several studies have indicated that plasma citrulline levels reflect the extent of mucosal injury of the small intestine. This study was performed to determine whether plasma citrulline levels correlate with the disease activity in pediatric patients with Crohn disease (CD).

Methods: A total of 63 CD and 23 ulcerative colitis (UC) patients were included in this study.

Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases.

Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphosphatase 7B gene. It is rare to diagnose WD below the age of three years. Molecular genetic testing is one of the most important diagnostic methods and may confirm the diagnosis in equivocal cases.

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

Unlabelled: Congenital chloride diarrhea (CLD, OMIM#214700) is an autosomal recessive disorder caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal chloride/bicarbonate exchanger. While more than 50 mutations have been identified throughout the world, there have been no data on the genetic characteristics of the patients of East Asian ethnic origin. In this study, we performed genetic analysis by direct sequencing of the 20 exons and parts of exon-intron boundaries of the SLC26A3 gene in eight patients of Korean origin with non-consanguineous parents.

Nutritional zinc status in weaning infants: association with iron deficiency, age, and growth profile.

In the present study, we evaluated the correlation between iron deficiency (ID) and zinc deficiency (ZD) and explored the demographic, anthropometric, and feeding-related factors associated with hypozincemia and hair zinc content in weaning infants. Infants aged 6-24 months were recruited, their feeding history was recorded, and their heights and weights were measured. Hemoglobin content, serum iron/total iron-binding capacity, and ferritin and zinc concentrations of serum and hair (using inductively coupled plasma-mass spectroscopy) were assessed.

Impedance-pH monitoring and conventional pH monitoring are complementary methods to detect association between gastroesophageal reflux and apnea-related symptoms in preterm infants and neonates.

Objective: To investigate the usefulness of Multichannel intraluminal impedance-pH (MII-pH) monitoring as compared with conventional pH monitoring for detecting Gastroesophageal reflux (GER) episodes and apnea-related symptom association in preterm infants and neonates.

Methods: Twenty-three infants (16 preterm and 7 term infants) in hospital, who underwent 24-h MII-pH monitoring, were studied retrospectively. GER indices and apnea-related symptom association were measured by both MII-pH and conventional pH based analysis.

Noninvasive parameters and hepatic fibrosis scores in children with nonalcoholic fatty liver disease.

Aim: To evaluate the noninvasive parameters and hepatic fibrosis scores in obese children with nonalcoholic fatty liver disease (NAFLD).

Methods: A total of 77 children diagnosed with NAFLD via liver biopsy were included and divided into 2 subgroups according to the histopathologic staging of hepatic fibrosis: mild (stage 0-1) vs significant fibrosis (stage 2-4). Clinical and laboratory parameters were evaluated in each patient.

Pediatric liver transplantation for fibropolycystic liver disease.

Fibropolycystic liver disease includes CHF, Caroli's syndrome, and Caroli's disease. Patients with Caroli's disease and Caroli's syndrome have an increased risk of recurrent cholangitis, intrahepatic calculi, biliary cirrhosis, and cholangiocarcinoma. The aim of this study was to examine the post-transplantation outcomes of children with fibropolycystic liver disease.

Clinical features of congenital portosystemic shunt in children.

Unlabelled: Clinical features, images, complications, treatments, and prognosis of 10 children with congenital portosystemic shunt (CPSS) were reviewed. Nine children were diagnosed with intrahepatic shunts while one presented with extrahepatic shunt. CPSS was detected by prenatal ultrasonography in four infants.

Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

Background: Cystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians. The most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been well established among Caucasian populations. In Koreans, however, there are very few cases of genetically confirmed CF thus far, and the spectrum of mutations seems quite different from that observed in Caucasians.

Pyrosequencing-based molecular monitoring of the intestinal bacterial colonization in preterm infants.

Objectives: The aim of the study was to investigate the previously unexplored diversity of neonatal intestinal microbiota and monitor early intestinal colonization patterns in Korean preterm infants using high-throughput pyrosequencing technology combined with 16S rDNA-based molecular methods.

Subjects And Methods: A total of 46,369 partial 16S rDNA sequences obtained from 30 fecal samples serially taken from 10 very-low-birth weight preterm infants were analyzed.

Results: A significant proportion of the molecular species (21.

Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome.

Background: Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome (MIM♯208085) is a rare multisystem disorder, which involves the kidney, liver, skin, and central nervous and musculoskeletal systems. It is inherited as an autosomal-recessive trait, associated with germ-line mutations in the VPS33B gene. In this study, the authors reviewed the orthopaedic manifestations of ARC syndrome.

Clinical application of liver MR imaging in Wilson's disease.

Objective: To determine whether there is a correlation between liver MR findings and the clinical manifestations and severity of liver dysfunction in patients with Wilson's disease.

Materials And Methods: Two radiologists retrospectively evaluated MR images of the liver in 50 patients with Wilson's disease. The Institutional Review Board approved this retrospective study and informed consent was waived.