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https://www.readbyqxmd.com/read/29695640/association-of-vamp5-and-mcc-genetic-polymorphisms-with-increased-risk-of-hirschsprung-disease-susceptibility-in-southern-chinese-children
#1
Jinglu Zhao, Xiaoli Xie, Yuxiao Yao, Qiuming He, Ruizhong Zhang, Huimin Xia, Yan Zhang
Hirschsprung disease (HSCR) is a genetic disorder characterized by the absence of neural crest cells in parts of the intestine. This study aims to investigate the association of vesicle-associated membrane protein 5 ( VAMP5 ) and mutated in colorectal cancer ( MCC ) genetic polymorphisms and their correlated risks with HSCR. We examined the association in four polymorphisms (rs10206961, rs1254900 and rs14242 in VAMP5 , rs11241200 in MCC ) and HSCR susceptibility in a Southern Chinese population composed of 1473 cases and 1469 controls...
April 25, 2018: Aging
https://www.readbyqxmd.com/read/29681101/a-patient-with-peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-and-severe-hypoganglionosis-associated-with-a-novel-sox10-mutation
#2
Yuko Akutsu, Kentaro Shirai, Akira Takei, Yudai Goto, Tomohiro Aoyama, Akimitu Watanabe, Masatoshi Imamura, Takashi Enokizono, Tatsuyuki Ohto, Tetsuo Hori, Keiko Suzuki, Masaharu Hayashi, Kouji Masumoto, Ken Inoue
In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of SOX10. She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. The persistence of ganglion cells made both the diagnosis and treatment difficult in the neonatal period. She also showed hypopigmentation of the irises, hair and skin, bilateral sensorineural deafness with hypoplastic inner year, severe demyelinating neuropathy with hypotonia, and diffuse brain hypomyelination...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29680278/colonic-diverticulosis-in-an-infant-a-clue-to-total-colonic-hirschsprung-disease
#3
Scott S Short, Liese C C Pruitt, Michael D Rollins
Total colonic aganglionosis is a rare phenotype of Hirschsprung disease (HD). While the diagnosis is generally established within the neonatal period there are reports of delayed presentation. In this case, we describe a 9-month old girl with no previous medical or surgical history who presented with a small bowel obstruction. A contrast enema performed as part of the work up demonstrated right sided colonic diverticula with no other anatomical abnormalities. Surgical intervention was required to manage the obstruction and colonic biopsies were consistent with HD...
March 23, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29543374/long-term-outcome-and-quality-of-life-in-patients-with-total-colonic-aganglionosis-in-the-netherlands
#4
D Roorda, M J Witvliet, L M Wellens, D V Schulten, C E J Sloots, I de Blaauw, P M A Broens, J Oosterlaan, L W E van Heurn, A F W van der Steeg
AIM: Total colonic aganglionosis (TCA) is a severe form of Hirschsprung's Disease (HD) associated with a high morbidity. This study assesses long-term functional outcome and Quality of Life (QoL) of TCA patients in a national consecutive cohort. METHODS: Medical records of all patients (n=53) diagnosed between 1995 and 2015 were reviewed on surgical and demographic characteristics. Functional outcome of all non-syndromal patients, aged ≥ four years (n=35) was assessed in medical records and with a questionnaire...
March 15, 2018: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/29484400/gli-family-zinc-finger-1-is-associated-with-endothelin-receptor-type-b-in-hirschsprung-disease
#5
Weizhen Liu, Juan Pan, Jinbo Gao, Xiaoming Shuai, Shaotao Tang, Guobin Wang, Kaixiong Tao, Chuanqing Wu
Hirschsprung disease (HSCR) is a newborn colorectal disease characterized by an absence of ganglia in the distal gut. Hedgehog (Hh) and endothelin signaling serve important roles in gastrointestinal tract formation. Alterations in the signaling pathways disrupt the development of enteric neural crest cells (ENCCs). It is not known whether there is any coordination between these pathways in the pathogenesis of HSCR. In the present study, tissue samples from 35 patients with HSCR, including stenotic aganglionosis gut and normal ganglionic gut, were obtained...
April 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29426767/full-thickness-rectal-biopsy-in-children-suspicious-for-hirschsprung-s-disease-is-safe-and-yields-a-low-number-of-insufficient-biopsies
#6
Niels Bjørn, Lars Rasmussen, Niels Qvist, Sönke Detlefsen, Mark Bremholm Ellebæk
INTRODUCTION: The diagnosis of Hirschsprung's disease (HD) relies on the histological demonstration of aganglionosis in the bowel wall. Biopsies may be obtained by rectal suction biopsy (RSB) or by transanal full-thickness excision biopsy (FTB). The objective of the present study was to evaluate the frequency of complications and inconclusive biopsies after FTB in children referred with suspicion of HD. The secondary objective was to calculate the frequency of proven aganglionosis. METHODS: A retrospective chart review was performed of all patients under the age of 16years who underwent transanal FTB during the time period of 2008-2014...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29419957/-risk-factors-associated-with-the-development-of-enterocolitis-in-hirschsprung-s-disease
#7
M I Romo Muñoz, A Martínez de Aragón, V Núñez Cerezo, C Udaondo, M Sellers, S Barrena, M De Ceano, M López Santamaría, L Martínez Martínez
OBJECTIVES: Hirschsprung's-associated enterocolitis (HAEC) is a live-threatening complication that remains badly understood. Our objective is to identify the risk factors related to the development of HAEC in the cohort of patients with Hirschsprung's disease (HD) treated in our center. METHODS: We reviewed the patients treated for HD between 2000 and 2016. Ninety four patients were included, and the clinical details related to the disease were evaluated. Our primary outcome measure was the development of HAEC...
February 1, 2018: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29393463/bmp4-knockdown-of-ncscs-leads-to-aganglionosis-in-the-middle-embryonic-stage
#8
Hong-Bo Li, Xian-Qing Jin, Xin Jin, Zheng-Hua Guo, Xiong-Hui Ding, Quan Wang, Rui-Zhuo Liu
Transplacental bone morphogenetic protein (BMP)4 RNA interference (RNAi) is a technique used to knockdown genes in embryos. BMP4 are essential for the development of nervous system in the differentiation of neural crest stem cells (NCSCs). The failure of differentiation and migration of NCSCs may lead to aganglionosis. In the present study, pregnant mice were divided into three groups: Ringer's group, pSES group and RNAi‑BMP4 group. In order to silence the BMP4 gene in the first generation (F1), 11.5 day pregnant mice were injected with the small interfering RNA BMP4 plasmid, pSES or Ringer's solution via the tail vein...
April 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29377512/association-of-nrg1-and-auts2-genetic-polymorphisms-with-hirschsprung-disease-in-a-south-chinese-population
#9
Yan Zhang, Xiaoli Xie, Jixiao Zeng, Qiang Wu, Ruizhong Zhang, Deli Zhu, Huimin Xia
Hirschsprung disease (HSCR) is a genetic disorder characterized by the absence of enteric ganglia. There are more than 15 genes identified as contributed to HSCR by family-based or population-based approaches. However, these findings were not fulfilled to explain the heritability of most sporadic cases. In this study, using 1470 HSCR and 1473 control subjects in South Chinese population, we replicated two variants in NRG1 (rs16879552, P = 1.05E-04 and rs7835688, P = 1.19E-07), and further clarified the two replicated SNPs were more essential for patients with short-segment aganglionosis (SHSCR) (P = 2...
April 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29290961/-dnmt3b-knock-down-in-enteric-precursors-reveals-a-possible-mechanism-by-which-this-de-novo-methyltransferase-is-involved-in-the-enteric-nervous-system-development-and-the-onset-of-hirschsprung-disease
#10
Ana Torroglosa, Leticia Villalba-Benito, Raquel María Fernández, María José Moya-Jiménez, Guillermo Antiñolo, Salud Borrego
Hirschsprung disease (HSCR, OMIM 142623) is a pathology that shows a lack of enteric ganglia along of the distal gastrointestinal tract. This aganglionosis is attributed to an abnormal proliferation, migration, differentiation and/or survival of enteric precursor cells (EPCs) derived from neural crest cells (NCCs) during the enteric nervous system (ENS) embryogenesis. DNMT3b de novo methyltransferase is associated with NCCs development and has been shown to be implicated in ENS formation as well as in HSCR...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29170900/the-challenges-of-closing-an-ileostomy-in-patients-with-total-intestinal-aganglionosis-after-small-bowel-transplant
#11
Fereshteh Salimi Jazi, Tiffany J Sinclair, Chad M Thorson, Ricardo Castillo, Andrew C Bonham, Carlos O Esquivel, Matias Bruzoni
We present the case of a 14-year-old male with a history of small bowel transplantation for long segment Hirschsprung's disease who underwent Duhamel ileorectal pull-through procedure. In post-transplant, the patient had no restrictions and was not TPN-dependent. To improve his quality of life, he and his family were interested in closing the ileostomy and undergoing pull-through surgery. The complexity of the case includes the presence of an aganglionic rectal segment-a short root of the mesentery due to the small bowel transplant-and significant immunosuppression...
January 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29165757/clinical-effects-of-ascending-colon-patching-ileorectal-heart-shaped-anastomosis-on-total-colonic-aganglionosis
#12
S-X Li, H-W Zhang, H Cao, H-X Zou, Y-Y Yin, F Sui, X Zhang
OBJECTIVE: We studied the clinical effects of ascending colon patching ileorectal heart-shaped anastomosis in treating total colonic aganglionosis. PATIENTS AND METHODS: From June 2006 to June 2013, 15 children with severe abdominal distension, low small intestine obstruction and intestinal perforation in the neonatal period, were enrolled in this study. In phase I, patients received emergency terminal ileum stoma plus multi-site colonic biopsy and 6 to 12 months later, ascending colon patching ileorectal heart-shaped anastomosis was conducted in phase II...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29093530/sporadic-hirschsprung-disease-mutational-spectrum-and-novel-candidate-genes-revealed-by-next-generation-sequencing
#13
Zhen Zhang, Qi Li, Mei Diao, Na Liu, Wei Cheng, Ping Xiao, Jizhen Zou, Lin Su, Kaihui Yu, Jian Wu, Long Li, Qian Jiang
Hirschsprung disease (HSCR) is a common cause of functional colonic obstruction in children. The currently available genetic testing is often inadequate as it mainly focuses on RET and several other genes, accounting for only 15-20% of cases. To identify novel, potentially pathogenic variants, we isolated a panel of genes from a whole-exome sequencing study and from the published mouse aganglionosis phenotypes, enteric nervous system development, and a literature review. The coding exons of 172 genes were analyzed in 83 sporadic patients using next-generation sequencing...
November 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29075908/are-all-patients-with-short-segment-hirschsprung-s-disease-equal-a-retrospective-multicenter-study
#14
Patrick Ho Yu Chung, Kenneth Kak Yuen Wong, Paul Kwong Hang Tam, Michael Wai Yip Leung, Nicholas Sih Yin Chao, Kelvin Kam Wing Liu, Edwin Kin Wai Chan, Yuk Him Tam, Kim Hung Lee
BACKGROUND/PURPOSE: Short segment Hirschsprung's disease (HSCR) carries a better prognosis than long segment disease, but the definition of short is controversial. The objective of this study is to determine anatomically the extent of disease involvement that would be associated with a better functional outcome. METHODS: This is a retrospective multicenter (n = 3) study with patients (≥ 3 years) who had transanal pullthrough operation done for aganglionosis limited to the recto-sigmoid colon were reviewed...
January 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29073546/jejunal-perforation-as-an-unusual-presentation-of-total-colonic-aganglionosis-in-a-neonate-a-case-report
#15
Sang Beom Han, Jiha Kim, Suk-Bae Moon
INTRODUCTION: Neonatal intestinal perforation usually occurs at distal small bowel secondary to distal bowel obstruction. The aim of this report is to describe an unusual case of total colonic aganglionosis with an initial presentation of proximal jejunal perforation. PRESENTATION OF CASE: A male newborn presented with jejunal perforation on the fifth day of life and was treated by laparoscopic primary repair. Abdominal distention persisted postoperatively, and radiological examination revealed an obstruction near the terminal ileum...
October 18, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28983688/inflammatory-bowel-disease-in-patients-with-hirschsprung-s-disease-a-systematic-review-and-meta-analysis
#16
H Nakamura, T Lim, P Puri
AIM AND OBJECTIVES: Hirschsprung-associated enterocolitis (HAEC) continues to be an important cause of morbidity in patients with Hirschsprung's disease (HSCR). HAEC can occur at any time during the course of the disease. The reported incidence of HAEC before surgery ranges from 6 to 50%, and after surgery, it ranges from 2 to 35%. HAEC and inflammatory bowel disease (IBD) have similar clinical presentation including diarrhea, hematochezia, and abdominal pain. In recent years, isolated cases of IBD have been reported in patients who had surgical treatment for HSCR...
February 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/28930629/large-scale-replication-study-identified-multiple-independent-snps-in-ret-synergistically-associated-with-hirschsprung-disease-in-southern-chinese-population
#17
Yan Zhang, Qiuming He, Ruizhong Zhang, Hong Zhang, Wei Zhong, Huimin Xia
Hischsprung disease (HSCR) is an intestinal disorder with strong genetic components. RET was considered as the strongest contributor. Multiple single nucleotide polymorphisms (SNP) were demonstrated as associated with HSCR in different populations. However, whether the associations of reported SNPs derived from one causal variants or congregations of multiple variants were still not clear. In this study, we successfully genotyped 16 SNPs in RET with a largest case-control study to date, totaling 1470 HSCR and 1473 control subjects in South Chinese population...
September 20, 2017: Aging
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#18
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28920022/familial-near-total-intestinal-aganglionosis
#19
Hidouri Saida, Zitouni Hayet, Chahed Jamila, Mosbahi Sana, Belhassen Samia, Ksiaa Amine, Hmida Badii, Krichene Imed, Sahnoun Lassad, Mekki Mongi, Belguith Mohsen, Nouri Abdellatif
Near total aganglionosis represents the most extreme and rare form of Hirschsprung's disease. It can affect more than one member of family. We report three cases of near total intestinal aganglionosis in a family presenting with intestinal obstruction at birth. All of them were operated and a jejunostomy was performed. Outcome was dismal.
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28910873/-differential-expression-and-clinical-significance-of-calretinin-in-total-colonic-aganglionosis
#20
L Q Ke, J Huang, L L Liu, M J Huang, Q Zhang, J C Wang, W Zhang
Objective: To evaluate the differential calretinin immunostaining in different segments of total colonic aganglionosis and its utility in the diagnosis. Methods: Nine specimens including ileum and colon segments were obtained from 9 patients with total colonic aganglionosis (TCA), from 2010 to 2016 year, in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology. Another 9 ganglionic specimens including the same segments from patients with non-Hirschsprung disease (non-HD) patients were collected as control...
September 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
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