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https://www.readbyqxmd.com/read/28755898/comparison-of-hirschsprung-associated-enterocolitis-following-soave-and-duhamel-procedures
#1
Isidora Galuh Parahita, Akhmad Makhmudi, Gunadi
BACKGROUND: Hirschsprung-associated enterocolitis (HAEC) represents the primary cause of high morbidity and mortality in Hirschsprung disease (HSCR) patients. The most common surgical methods for HSCR are the Soave and Duhamel procedures. Therefore, we aimed to compare the HAEC frequency following the Soave and Duhamel procedures. METHODS: Medical records were retrospectively analyzed for patients who underwent the Soave and Duhamel pull-through at Dr. Sardjito Hospital, Indonesia from 2010 to 2015...
July 17, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28727975/appendicular-biopsy-in-total-colonic-aganglionosis-a-histologically-challenging-and-inadvisable-practice
#2
Suravi Mohanty, Usha Kini, Kanishka Das, Divya Puttegowda, Lokendra Yadav, Manjally Kunjipapu Babu, Kiran Mahadevappa, Prasanna Kumar, Shubha Attibele Mahadevaiah, Mainak Deb
Background The reliability of intraoperative evaluation of ganglion cells in the appendix as a guide to a diagnosis of total colonic aganglionosis is unclear. Objective To evaluate the diagnostic utility of appendicular innervation in colonic Hirschsprung disease (HD) and TCA. Methods Prospective, systematic study of ganglion cells and the neural plexii in appendices from cases (HD and TCA) and age matched controls with frozen and paraffin sections, rapid acetylcholinesterase (AChE) and immunohistochemistry...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28706618/isolated-ileal-perforation-in-infancy-a-lethal-initial-presentation-of-hirschsprung-s-disease
#3
Fadi Iskandarani, Chawki Hammoud, Sarah Srour, Gloria Pelizzo, Ghassan Nakib, Valeria Calcaterra, Amir Khanafer
Arare case of ileal perforation, as a fatal initial presentation of total colonic aganglionosis (TCA) in infancy is reported. A 10-week-old boy, was brought to the emergency department with symptoms of complicated intestinal obstruction. He looked ill, was lethargic, markedly dehydrated and had a severely distended abdomen. An abdominal X-ray revealed multiple air fluid levels seen in a distended small intestine. During exploratory laparotomy the ileum was massively dilated with distal segment perforation. Ileal perforation repair was performed...
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28705638/laparoscopic-assisted-duhamel-procedure-with-ex-anal-rectal-transection-for-total-colonic-aganglionosis
#4
Xi Zhang, Guo-Qing Cao, Shao-Tao Tang, Xiao-Pan Chang, Shuai Li, Li Yang, Kang Li, Ying Zhou, De-Hua Yang
PURPOSE: Laparoscopic-assisted Duhamel procedure has a larger anastomosis and a reservoir which allows early recovery of defecation frequency, but concerns have been raised regarding the long operative time, high incidence of pouchitis and Hirschsprung associated enterocolitis (HAEC). The purpose of this study was to evaluate the postoperative complications and functional outcomes for patients with TCA undergoing modified laparoscopic-assisted Duhamel procedure (MLDP) with ex-abdominal partial colectomy and ex-anal rectal transection...
June 27, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28681569/diagnostic-use-of-endoscopic-full-thickness-wall-resection-eftr-a-novel-minimally-invasive-technique-for-colonic-tissue-sampling-in-patients-with-severe-gastrointestinal-motility-disorders
#5
P V Valli, D Pohl, M Fried, R Caduff, P Bauerfeind
BACKGROUND: Complex gastrointestinal (GI) motility disorders such as chronic intestinal pseudo-obstruction (CIPO) or Hirschsprung's disease (HD) are challenging to diagnose and treat appropriately. Thorough assessment of patient history, radiographic exams, endoscopy, and motility measurements aid in diagnostic workup, yet underlying histology is the cornerstone to enable a more distinct diagnosis of neuromuscular GI disorders. Traditionally, surgical procedures have been performed to obtain specimen suitable for accurate histologic analysis...
July 6, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28601901/hirschsprung-s-disease-in-twins-a-systematic-review-and-meta-analysis
#6
D Henderson, J Zimmer, H Nakamura, Prem Puri
AIM OF THE STUDY: Hirschsprung's disease (HSCR) is known to occur in families. The reported overall incidence of familial cases is 7.6%, with a higher incidence of 15-21% in total colonic aganglionosis and 50% in the rare total intestinal aganglionosis. HSCR is extremely rare in twins. The aim of this study was to systematically analyse the patterns of HSCR in twins published in the literature. METHODS: Electronic databases Pubmed and Medline were screened for relevant articles using the keywords "Hirschsprung's disease", "aganglionosis", "twins", "monozygotic", and "dizygotic"...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28600660/hirschsprung-disease-current-diagnosis-and-management
#7
Kanishka Das, Suravi Mohanty
Hirschsprung disease is a common cause of neonatal and infantile large gut obstruction. It is characterised by varying extent of contiguous aganglionosis extending from the anorectum proximally. Since its recognition, the diagnosis and management has continuously evolved with advances in histological evaluation and surgical techniques. This article summarizes the current modalities of investigation and optimal surgical management of Hirschsprung disease and concludes with a reference to the Indian scenario.
August 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28600659/a-meta-analysis-of-clinical-outcome-of-intestinal-transplantation-in-patients-with-total-intestinal-aganglionosis
#8
Hiroki Nakamura, Davina Henderson, Prem Puri
AIM OF THE STUDY: Total intestinal aganglionosis (TIA) occurs in less than 1% of patients with Hirschsprung disease (HD), and TIA is the most severe form of HD. Survival has improved with the advent of parenteral nutrition and intestinal transplantation (ITx). The field of ITx has rapidly progressed in the last two decades and has now become an established treatment for patients with intestinal failure. The purpose of this meta-analysis was to determine the clinical outcome of ITx in patients with TIA...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28582312/development-of-nerve-fibre-diameter-in-young-infants-with-hirschsprung-disease
#9
Maarten Janssen Lok, Roxana Rassouli-Kirchmeier, Nils Köster, Benno Kusters, Ivo de Blaauw
OBJECTIVES: Finding thickened nerve fibres is one of the key elements in the diagnosis of Hirschsprung Disease (HD); however, its value at different ages remains uncertain. Nerve fibre diameters <40 μm can be observed in infants younger than 8 weeks, despite the presence of HD. The aim of this study was to identify a change in maximum nerve fibre diameter in HD patients, measured before and after 8 weeks of age. METHODS: Nerve fibre diameter was retrospectively evaluated in tissue of 20 infants treated for definite HD...
June 2, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28562483/investigation-of-the-expression-of-apoptosis-inducing-factor-mediated-apoptosis-in-hirschsprung-s-disease
#10
Xin Ge, Chunyan Hu, Qingqing Guo, Wei Li, Yuying Zhao, Weili Yang, Yudu Wang, Peng Li, Ya Gao, Qiang Huang
One of the widely accepted hypotheses of Hirschsprung's disease (HD) is that the absence of ganglion cells in the distal part of the intestine is caused by the death of enteric neural crest-derived cells following migration. Although a caspase-dependent pathway has not yet been detected in the HD bowel, it is unclear whether a caspase-independent pathway contributes toward aganglionosis. In the current study, we observed highly condensed marginal heterochromatin in nuclei only in the transitional segment using electron microscopy and a high proportion of TUNEL-positive cells were observed in the transitional segment...
July 5, 2017: Neuroreport
https://www.readbyqxmd.com/read/28528714/the-use-of-stomas-in-the-early-management-of-hirschsprung-s-disease-findings-of-a-national-prospective-cohort-study
#11
T J Bradnock, M Knight, S Kenny, M Nair, G M Walker
BACKGROUND/PURPOSE: Primary pull-through without a stoma has become preferred practice in managing Hirschsprung's disease (HD). The aims of this study were to establish stoma rate and identify factors associated with stoma formation in a population-based cohort in the UK and Ireland. METHODS: Live-born infants with HD were prospectively identified in all 28 specialist pediatric surgical units in the UK and Ireland between October 2010 to September 2012. Method of colonic decompression was recorded and multivariable logistic regression was used to identify factors associated with stoma formation...
May 11, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28342760/correction-of-hirschsprung-associated-mutations-in-human-induced-pluripotent-stem-cells-via-clustered-regularly-interspaced-short-palindromic-repeats-cas9-restores-neural%C3%A2-crest-cell-function
#12
Frank Pui-Ling Lai, Sin-Ting Lau, John Kwong-Leong Wong, Hongsheng Gui, Reeson Xu Wang, Tingwen Zhou, Wing Hon Lai, Hung-Fat Tse, Paul Kwong-Hang Tam, Maria-Mercedes Garcia-Barcelo, Elly Sau-Wai Ngan
BACKGROUND & AIMS: Hirschsprung disease is caused by failure of enteric neural crest cells (ENCCs) to fully colonize the bowel, leading to bowel obstruction and megacolon. Heterozygous mutations in the coding region of the RET gene cause a severe form of Hirschsprung disease (total colonic aganglionosis). However, 80% of HSCR patients have short-segment Hirschsprung disease (S-HSCR), which has not been associated with genetic factors. We sought to identify mutations associated with S-HSCR, and used the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 gene editing system to determine how mutations affect ENCC function...
March 23, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28341231/rectal-suction-biopsy-with-calretinin-immunohistochemistry-in-patients-suspected-with-residual-aganglionosis-after-operation-for-hirschsprung-disease
#13
Viet Quoc Tran, Dinh Quang Truong, Philippe Goyens, Henri Steyaert
INTRODUCTION: This study investigates the use of rectal suction biopsy (RSB) with calretinin immunohistochemical staining (CIS) in patients suspected of having abnormally innervated bowel after pull through operation for Hirschsprung disease (HD). METHOD: This study was conducted in Children's Hospital 2, Ho Chi Minh City from January 2015 through June 2016. Patients suspected with abnormally innervated bowel after pull through operation for HD were submitted for a RSB with CIS...
March 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28319561/pediatric-enteric-neuropathies-diagnosis-and-current-management
#14
Maggie L Westfal, Allan M Goldstein
PURPOSE OF REVIEW: Neurointestinal diseases are increasingly recognized as causes of significant gastrointestinal morbidity in children. This review highlights the most common pediatric enteric neuropathies and their diagnosis and management, emphasizing insights and discoveries from the most recent literature available. RECENT FINDINGS: The embryologic and histopathologic causes of enteric neuropathies are varied. They range from congenital aganglionosis in Hirschsprung disease, to autoimmune-mediated loss of neuronal subtypes in esophageal achalasia and Chagas disease, to degenerative neuropathies in some cases of chronic intestinal pseudo-obstruction and gastroparesis...
June 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28256032/localization-of-the-5-hydroxytryptamine-4-receptor-in-equine-enteric-neurons-and-extrinsic-sensory-fibers
#15
F Giancola, A M Rambaldi, F Bianco, S Iusco, N Romagnoli, C Tagliavia, C Bombardi, P Clavenzani, R De Giorgio, R Chiocchetti
BACKGROUND: Serotonin plays a pivotal role in regulating gut motility, visceral sensitivity, and fluid secretion via specific receptors. Among these receptors, 5-HT4 exerts a prominent control on gut motor function. Although the prokinetic effect exerted by 5-HT4 agonists is well known, the cellular sites of 5-HT4 expression remain poorly understood in large mammals, e.g., horses. In this study, we evaluated the distribution of 5-HT4 in the horse intestine and in foals with enteric aganglionosis, reminiscent of human Hirschsprung's disease...
March 3, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28190554/neuregulin-1-is-involved-in-enteric-nervous-system-development-in-zebrafish
#16
Jiarui Pu, Shaotao Tang, Qiangsong Tong, Guobin Wang, Haibo Jia, Qiong Jia, Kang Li, Dan Li, Dehua Yang, Jun Yang, Hang Li, Shuai Li, Hong Mei
BACKGROUND: Hirschsprung's disease (HD, also known as congenital colon aganglionosis) is a congenital disorder characterized by the absence of intramural ganglion cells in the distal gastrointestinal tract, which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. Recent studies have indicated neuregulin 1 (NRG1) as a new candidate gene involved in the development of the enteric nervous system (ENS) in humans. METHODS: In our study, we investigated the role of NRG1 in zebrafish ENS development by assessing NRG1 expression patterns during ENS development...
July 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28180937/guidelines-for-the-management-of-postoperative-obstructive-symptoms-in-children-with-hirschsprung-disease
#17
REVIEW
J C Langer, M D Rollins, M Levitt, A Gosain, L de la Torre, R P Kapur, R A Cowles, J Horton, D H Rothstein, A M Goldstein
Although most children with Hirschsprung disease ultimately do well, many experience a variety of ongoing problems after pull-through surgery. The most common include obstructive symptoms, soiling, enterocolitis and failure to thrive. The purpose of this guideline is to present a rational approach to the management of postoperative obstructive symptoms in children with Hirschsprung disease. The American Pediatric Surgical Association Board of Governors established a Hirschsprung Disease Interest Group. Group discussions, literature review and expert consensus were then used to summarize the current state of knowledge regarding causes, methods of diagnosis, and treatment approaches to children with obstructive symptoms following pull-through for Hirschsprung disease...
May 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28169931/bowel-function-and-quality-of-life-after-transanal-endorectal-pull-through-for-hirschsprung-disease-controlled-outcomes-up-to-adulthood
#18
Malla I Neuvonen, Kristiina Kyrklund, Risto J Rintala, Mikko P Pakarinen
OBJECTIVE: The aim of this study was to define controlled outcomes up to adulthood for bowel function and quality of life (QoL) after transanal endorectal pull-through (TEPT) for Hirschsprung disease (HD). SUMMARY OF BACKGROUND DATA: Although TEPT is the surgical standard for HD, controlled long-term follow-up studies evaluating bowel function and QoL are lacking. METHODS: Patients aged ≥4 years operated for HD with TEPT between 1987 and 2011 answered detailed questionnaires on bowel function and QoL [Pediatric Quality of Life Inventory (PedsQL, age <18 yrs) or Gastrointestinal Quality of Life Index (GIQLI) and SF-36]...
March 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28131074/noncompaction-cardiomyopathy-in-hirschsprung-s-disease-a-case-report
#19
Silvia D Visonà, Gaetano Thiene, Savina Mannarino, Giulia Corana, Antonio Osculati, Annalisa Angelini, Stefania Rizzo
Noncompaction cardiomyopathy is a rare disorder, often associated with cardiac and noncardiac malformations. Hirschsprung's disease, a well-known aganglionosis, is associated with congenital heart diseases and has been reported to be due to impairment migration and differentiation of neural crest cells. Here, we present an 8-month-old male infant who died for cardiogenic shock after surgical resection of the involved bowel segment. The child was affected by both noncompaction cardiomyopathy and Hirschsprung's disease, two entities which can share a common neural crest-derived etiology...
March 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28128317/a-de-novo-deletion-mutation-in-sox10-in-a-chinese-family-with-waardenburg-syndrome-type-4
#20
Xiong Wang, Yaowu Zhu, Na Shen, Jing Peng, Chunyu Wang, Haiyi Liu, Yanjun Lu
Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling...
January 27, 2017: Scientific Reports
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