Therapeutic Colonoscopy in Children: Endoscopic Snare Polypectomy and Juvenile Polyps

Safety and efficacy of colonoscopic polypectomy without using general anesthesia in young children with juvenile polyps were studied. Between July 1987 and June 1993, seventy six colorectal polyps of up to 4.5cm diameter were removed by diathermy snare during 43 colonoscopic polypectomy sessions on 38 children aged from 6 months to 13 years (mean, 4.4 years). Thirty four children had single polyps. The remaining four children had more than two polyps. One of them was juvenile polyposis. General anesthesia was not used in any infant or child. In 31 (82%) patients, colonoscopic polypectomy was performed on an ambulatory basis. Most juvenile polyps (89%) occurred as a solitary lesion. In 76% of patients, polyps were located in the rectosigmoid region. Seventy nine percent of the polypectomized juvenile polyps were between 1 em and 3 em diameter in size. No complications related to medication, colonoscopy. or snare polypectomy were observed in any of the children. The major clinical manifestations of children with juvenile polyps were hematochezia (89%), abdominal pain (19%), mucoid stools or diarrhea (45%), and anemia (29%). These clinical symptoms disappeared soon after removal of polyps. In 18 of 33 patients with juvenile polyps, barium enema did not demonstrate any colonic polyps. More than 6 months' delay of diagnosis was noted in 40% of patients. Only 32% of patients were diagnosed to have juvenile polyps within 3 months from the onset of hematochezia. Sixteen patients (42%) were referred with a clinical impression of colon polyp. However, the remaining 22 patients had been treated before referral under various tentative diagnoses including dysentery-like infectious diarrhea (34%), anal fissure (11%), hemorrhoid (5%) and ulcerative colitis (5%). From the experience in the present study, it is concluded that colonoscopic snare polypectomy can be safely and effectively used at pediatric age for the treatment of juvenile polyps without using general anesthesia on an ambulatory basis

Clinical Significance of Duodenal Bile Acids in Differential Diagnosis for Infantile Jaundice -Duodenal Intubation in Infants with Cholestatic Jaundice-

We evaluated the effectiveness of bile in duodenal fluid collected by intubation from neonates with severe cholestasis to differentiate biliary atresia. Eighty five infants with cholestatic jaundice and acholic stools were studied prospectively from November 1985 to July 1992. Forty nine patients had biliary atresia, 34 neonatal hepatitis, and 2 intrahepatic bile duct paucity. Almost all (47 of 49 infants) of the biliary atresia patients did not show bile in the duodenal fluid and most of the neonatal hepatitis cases (29 of 34 patients) revealed bile in the juice, whereas only 8 of 32 neonatal hepatitis patients demonstrated bowel radio-activity on DISIDA scan. Seventy six of 85 cholestatic jaundice patients could be diagnosed correctly by duodenal intubation bile study, and only 8 of 83 patients could be diagnosed by DISIDA scan only in this study. When DISIDA and duodenal intubation were carried out simultaneously, we could confirm the correct diagnosis in 77 of 83 patients before liver biopsy and operative cholangiogram. During the study, intubation did not cause any complication at all. These data suggest that duodenal intubation must be a superior method for the differentiation of cholestatic jaundice patients, and, moreover, it is simple, rapid and cheap

Juvenile Angiodysplasia of Gut

Angiodysplasia or arteriovenous malformation of the gastrointestinal tract in younger patients is different from "classic" angiodysplasia in older patients, by age of onset, clinical presentation, location of the lesion and diverse histologic features, We report two cases of juvenile angiodysplasia of the gut. The diagnosis was suspected by radionuclide blood pool scan and was confirmed by resection and pathological examination, Both cases were girls of 5 years and 12 years of age, and the lesions were in the jejunum and ileum, Grossly, one case showed multiple petechiae and another case showed a hemorrhagic polypoid mass, Microscopically, the lesions were composed of irregularly dilated vascular channels in mucosa and submucosa with abnormal proliferation of arteries and veins in submucosa, Both cases are free of recurrence after local resection

Colorectal Lymphoid Polyposis in a Child

Lymphoid polyposis is a lymphoid hyperplasia of the gastrointestinal tract that usually presents as multiple small polyps in the colon during childhood. This should be differentiated from other neoplastic or familial polyposis of the intestine. We report a case of benign lymphoid polyposis of the colon in a 17-month-old boy who presented with perianal fistula and mucosal ulceration. Colon study and rectal examinations showed multiple polyps in the sigmoid colon and rectum. Segmental resection of the sigmoid colon and rectum showed over 100 smallt 3 - 7 mrn) sessile or pedunculated polyps that were diffusely scattered through out the removed segment. The polyps consisted of mature lymphoid tissue with numerous germinal centers, that was located mostly in the lamina propria and submucosa

Visceral Myopathy of Intestinal Pseudoobstruction

Intestinal pseudoobstruction is a syndrome complex caused by a variety of disorders of various etiology. It can be classified pathologically as visceral myopathy and visceral neuropathy. The sporadic form of visceral myopathy is characterized histologically by vacuolar degeneration and fibrosis of smooth muscle but differs from the familial form only by the absence of other affected family members. We studied 6 cases with intestinal pseudoobstruction classified as sporadic visceral myopathy. They were four boys and two girls, and were two neonates, two infants and two children. The duration of symptoms ranged from two days to two years. Two babies were dead from pneumonia and sepsis. Others were alleviated after surgical resection of the bowel. Both small and large intestines were found affected in autopsy cases. Histopathologic features were vacuolar degeneration of muscularis propria, disproportionate hypoplasia of outer muscle layer, abnormal muscle direction of muscularis propria, submucosal and/or interstitial fibrosis and extra muscle layering. It is presumed that a variety of histopathologic features accounts for visceral myopathy of intestinal pseudoobstruction

QTL mapping and improvement of pre-harvest sprouting resistance using japonica weedy rice

The stability of cultivation and production in terms of crop yield has been threatened by climate change due to global warming. Pre-harvest sprouting (PHS) is a threat to crops, especially staple foods, including rice, because of reductions in yield and quality. To address the problem of precocious germination before harvest, we performed quantitative trait loci (QTL) analysis for PHS using F8 RILs populations derived from japonica weedy rice in Korea. QTL analysis revealed that two stable QTLs, qPH7 and qPH2, associated with PHS resistance were identified on chromosomes 7 and 2, respectively, explaining approximately 38% of the phenotypic variation. The QTL effect in the tested lines significantly decreased the degree of PHS, based on the number of QTLs included. Through fine mapping for main QTL qPH7, the region for the PHS was found to be anchored within 23.575–23.785 Mbp on chromosome 7 using 13 cleaved amplified sequence (CAPS) markers. Among 15 open reading frames (ORFs) within the detected region, one ORF, Os07g0584366, exhibited upregulated expression in the resistant donor, which was approximately nine times higher than that of susceptible japonica cultivars under PHS-inducing conditions. Japonica lines with QTLs related to PHS resistance were developed to improve the characteristics of PHS and design practical PCR-based DNA markers for marker-assisted backcrosses of many other PHS-susceptible japonica cultivars

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. MR images were evaluated with a focus on hepatic contour abnormalities and the presence of intrahepatic nodules. By using Fisher`s exact test, MR findings were compared with clinical presentations (neurological and non-neurological) and hepatic dysfunction, which was categorized by the Child-Pugh classification system (A, B and C). Follow-up MR images were available for 17 patients. Results: Contour abnormalities of the liver and intrahepatic nodules were observed in 31 patients (62%) and 25 patients (50%), respectively. Each MR finding showed a statistically significant difference (p < 0.05) among the three groups of Child-Pugh classifications (A, n = 36; B, n = 5; C, n = 9), except for splenomegaly (p = 0.243). The mean age of the patients with positive MR findings was higher than that of patients with negative MR findings. For patients with Child-Pugh class A (n = 36) with neurological presentation, intrahepatic nodules, surface nodularity, and gallbladder fossa widening were more common. Intrahepatic nodules were improved (n = 8, 47%), stationary (n = 5, 29%), or aggravated (n = 4, 24%) on follow-up MR images. Conclusion: MR imaging demonstrates the contour abnormalities and parenchymal nodules of the liver in more than half of the patients with Wilson`s disease, which correlates with the severity of hepatic dysfunction and clinical manifestations.Cope-Yokoyama S, 2010, WORLD J GASTROENTERO, V16, P1487, DOI 10.3748/wjg.v16.i12.1487Akhan O, 2009, EUR J RADIOL, V69, P147, DOI 10.1016/j.ejrad.2007.09.029Taly AB, 2007, MEDICINE, V86, P112, DOI 10.1097/MD.0b013e318045a00eMerle U, 2007, GUT, V56, P115, DOI 10.1136/gut.2005.087262Akpinar E, 2007, EUR J RADIOL, V61, P25, DOI 10.1016/j.ejrad.2006.11.006Kozic D, 2006, ACTA RADIOL, V47, P624, DOI 10.1080/02841850600702176Kim TJ, 2006, AM J NEURORADIOL, V27, P1373SEO JK, 2006, KOREAN J HEPATOL, V12, P333Panagiotakaki E, 2004, AM J MED GENET A, V131A, P168, DOI 10.1002/ajmg.a.30345Chu WCW, 2004, AM J ROENTGENOL, V183, P1339ALA A, 2004, CLIN LIVER DIS, V8, P787Gitlin JD, 2003, GASTROENTEROLOGY, V125, P1868, DOI 10.1053/S0016-5085(03)01512-9Ferenci P, 2003, LIVER INT, V23, P139Akhan O, 2002, EUR RADIOL, V12, pS66, DOI 10.1007/s00330-002-1589-6Awaya H, 2002, RADIOLOGY, V224, P769, DOI 10.1148/radiol.2243011495Ito K, 1999, RADIOLOGY, V211, P723Ko SF, 1998, ABDOM IMAGING, V23, P56MERGO PJ, 1994, RADIOGRAPHICS, V14, P1291BULL PC, 1993, NAT GENET, V5, P327TANZI RE, 1993, NAT GENET, V5, P344DAVIES SE, 1989, HISTOPATHOLOGY, V15, P385CANCADO EL, 1987, ARQ NEURO-PSIQUIAT, V45, P131CHILD CG, 1964, LIVER PORTAL HYPERTE, P50

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants

Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal cholestasis, three infants had multiple aminoacidemia (involving citrulline, methionine, and arginine) and galactosemia, and thus were diagnosed as having NICCD. Two of these three showed failure to thrive. The laboratory findings showed hypoproteinemia and hyperammonemia, and liver biopsies revealed micro-macrovesicular fatty liver and cholestasis. The three patients each harbored compound heterozygous 1,638-1,660 dup/ S225X mutation, compound heterozygous 851del4/S225X mutation, and heterozygous 1,638-1,660 dup mutation, respectively. With nutritional manipulation, liver functions were normalized and catch-up growth was achieved. NICCD should be considered in the differential diagnosis of cholestatic jaundice in Korean infants

Exploring evidence of positive selection reveals genetic basis of meat quality traits in Berkshire pigs through whole genome sequencing

This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.Abstract Background Natural and artificial selection following domestication has led to the existence of more than a hundred pig breeds, as well as incredible variation in phenotypic traits. Berkshire pigs are regarded as having superior meat quality compared to other breeds. As the meat production industry seeks selective breeding approaches to improve profitable traits such as meat quality, information about genetic determinants of these traits is in high demand. However, most of the studies have been performed using trained sensory panel analysis without investigating the underlying genetic factors. Here we investigate the relationship between genomic composition and this phenotypic trait by scanning for signatures of positive selection in whole-genome sequencing data. Results We generated genomes of 10 Berkshire pigs at a total of 100.6 coverage depth, using the Illumina Hiseq2000 platform. Along with the genomes of 11 Landrace and 13 Yorkshire pigs, we identified genomic variants of 18.9 million SNVs and 3.4 million Indels in the mapped regions. We identified several associated genes related to lipid metabolism, intramuscular fatty acid deposition, and muscle fiber type which attribute to pork quality (TG, FABP1, AKIRIN2, GLP2R, TGFBR3, JPH3, ICAM2, and ERN1) by applying between population statistical tests (XP-EHH and XP-CLR). A statistical enrichment test was also conducted to detect breed specific genetic variation. In addition, de novo short sequence read assembly strategy identified several candidate genes (SLC25A14, IGF1, PI4KA, CACNA1A) as also contributing to lipid metabolism. Conclusions Results revealed several candidate genes involved in Berkshire meat quality; most of these genes are involved in lipid metabolism and intramuscular fat deposition. These results can provide a basis for future research on the genomic characteristics of Berkshire pigs