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https://www.readbyqxmd.com/read/28601901/hirschsprung-s-disease-in-twins-a-systematic-review-and-meta-analysis
#1
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"...
June 10, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28600660/hirschsprung-disease-current-diagnosis-and-management
#2
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.
June 10, 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
#3
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...
June 9, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28582312/development-of-nerve-fibre-diameter-in-young-infants-with-hirschsprung-disease
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/28104121/liver-failure-from-ultra-short-bowel-syndrome-on-the-intestinal-transplant-waiting-list-a-retrospective-study
#16
Y Noguchi, T Ueno, R Matsuura, T Kodama, K Deguchi, S Umeda, T Yamamichi, K Nakahata, M Zenitani, Y Takama, H Yamanaka, Y Tazuke, H Okuyama
BACKGROUND: Patients with intestinal failure (IF) are candidates for intestinal transplantation (ITx). In Japan, these patients have few opportunities to undergo cadaveric ITx because of low rates of organ donation. The donor criteria and recipient priority for ITx are still unknown. We reviewed our cases of IF to investigate which patients should be prioritized for ITx. METHODS: Patients with IF who were registered as candidates for cadaveric ITx between January 2010 and November 2015 in our institute were included in this retrospective study...
January 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28099057/a-provisional-experience-with-robot-assisted-soave-procedure-for-older-children-with-hirschsprung-disease-back-to-the-future
#17
Girolamo Mattioli, Luca Pio, Lorenzo Leonelli, Barbara Razore, Nicola Disma, Giovanni Montobbio, Vincenzo Jasonni, Paolo Petralia, Alessio Pini Prato
Hirschsprung disease is a congenital disease characterized by intestinal aganglionosis of various extents. Most patients are younger than 1 year of age. Though, a minority of cases can be older or even adult. Older the patient the more difficult and prolonged is the endorectal dissection required for the pull-through procedure. Longer surgery leads to longer anal dilatation and trauma with subsequent higher likelihood of continence impairment. The article aims at describing the first case series of robot-assisted Soave procedure, which was adopted as an alternative minimally invasive approach to older patients with Hirschsprung disease...
May 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/28080215/laparoscopy-assisted-duhamel-z-anastomosis-for-total-colonic-aganglionosis-outcome-assessed-by-fecal-continence-evaluation
#18
Go Miyano, Hiroki Nakamura, Shogo Seo, Ryo Sueyoshi, Manabu Okawada, Takashi Doi, Hiroyuki Koga, Geoffrey J Lane, Tadaharu Okazaki, Atsuyuki Yamataka
BACKGROUND: A Z-shaped colorectal side-to-side anastomosis was introduced to improve the Duhamel procedure by eliminating the rectal blind pouch. We retrospectively reviewed all total colonic aganglionosis patients treated by laparoscopy-assisted Duhamel-Z (LapDZ) between 2009 and 2014 focusing on annual fecal continence evaluation scores (CES) as an indicator of outcome. METHODS: LapDZ was performed conventionally. Postoperatively, defecation was regulated with medications and enemas according to our standard protocol...
March 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/28058486/current-status-of-hirschsprung-s-disease-based-on-a-nationwide-survey-of-japan
#19
Tomoaki Taguchi, Satoshi Obata, Satoshi Ieiri
PURPOSE: The diagnosis and surgical treatments of Hirschsprung's disease (HD) have undergone various changes in the last few decades because of establishment of laparoscopic procedures. A retrospective nationwide survey for 4 decades was performed to study the changing profile of HD in Japan. METHODS: The patient data were collected in 4 phases: Group 1, between 1978 and 1982; Group 2, between 1988 and 1992; Group 3, between 1998 and 2002; and Group 4, between 2008 and 2012...
April 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28040830/redo-pullthrough-for-hirschsprung-disease
#20
REVIEW
Matthew W Ralls, Arnold G Coran, Daniel H Teitelbaum
Pullthrough procedures for Hirschsprung diseases typically have favorable results. However, some children experience long-term postoperative complications comprising stooling disorders, such as intermittent enterocolitis, severe stool retention, intestinal obstruction, as well as incontinence. Reoperative Hirschsprung Disease surgery is complex. This begins with the workup after the initial presentation following primary pullthrough, continues with the definitive surgical correction with redo pullthrough, and ends with long-term follow-up of individuals...
April 2017: Pediatric Surgery International
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