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Ganglion cells in Hirschsprungs disease

H Subramanian, B A Badhe, P C Toi, K Sambandan
OBJECTIVES: To derive objective values for the diagnosis of Hirschsprung disease (HSCR) from a comparison of the morphometric profile of large intestinal neuronal plexuses in normal perinatal autopsies and surgical specimens of HSCR. METHODS: A cross-sectional comparative study with 40 subjects each in (i) non-HSCR perinatal group encompassing neonates and stillborn babies beyond 30 weeks of gestation on whom autopsies were conducted and (ii) HSCR group comprising all patients clinicoradiologically diagnosed as HSCR...
September 12, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
Lin Su, Zhen Zhang, Liang Gan, Qian Jiang, Ping Xiao, Jizhen Zou, Qi Li, Hong Jiang
Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of intrinsic ganglion cells in the lower intestine. Genetic factors in the pathogenesis of this disease are under active investigation. As core genes in the planar cell polarity pathway, Celsr3 and Fzd3 are believed to play vital roles in the development of the murine enteric nervous system. The potential association of CELSR3 and FZD3 with the development of HSCR in humans, however, is still unknown. We determined the genotypes of eight CELSR3 and FZD3 polymorphisms in 113 patients...
September 13, 2016: Experimental and Molecular Pathology
Suravi Mohanty, Usha Kini, Kanishka Das, Divya Puttegowda, Lokendra Yadav, Manjally Kunjipapu Babu, Kiran Mahadevappa, Prasanna Kumar, Shubha Attibele Mahadevaiah, Mainak Deb
: 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) & age matched controls with frozen & paraffin sections, rapid acetylcholinesterase (AChE) & immunohistochemistry...
September 9, 2016: Pediatric and Developmental Pathology
Xuyong Chen, Hongyi Zhang, Ning Li, Jiexiong Feng
OBJECTIVES: This study was conducted to investigate the pathological changes which occur in interstitial cells of Cajal (ICCs) and ganglion cells found in segments of resected bowel obtained from patients with Hirschsprung's disease (HD), as well as to explore the benefits of using a contrast enema (CE) with 24-h delayed X-ray films to predict the length of resected bowel. METHODS: We performed a retrospective analysis of 58 children with HD who had undergone the pull-through procedure...
November 2016: Pediatric Surgery International
Anne Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: The retinoblastoma 1 (RB1) tumor suppressor is a critical regulator of cell cycle progression and development, and has been widely documented to be inactivated in human cancer. A recent study using RB1 knockout mice suggested a new role for RB1 in the normal regulation of the enteric nervous system (ENS), because of knockout mice showing ENS abnormalities and severe intestinal dysmotility. The aim of our study was to investigate the expression of RB1 in the normal human colon and in Hirschsprung's disease (HD)...
November 2016: Journal of Pediatric Surgery
Meng Jiang, Kang Li, Shuai Li, Li Yang, Dehua Yang, Xi Zhang, Mijing Fang, Guoqing Cao, Yong Wang, Weibin Chen, Shaotao Tang
Evaluation of rectal suction biopsies for the ganglion cells and neural hypertrophy is the basic modality for the diagnosis of Hirschsprung's disease (HD). However, the traditional hematoxylin and eosin staining coupled with acetylcholinesterase histochemistry remain challenging, especially in newborns. Thus we conducted a prospective study to evaluate the usefulness of calretinin combined with S100 and protein gene product 9.5 (PGP9.5) immunostaining of rectal suction biopsies for the diagnosis of HD. A total of 195 patients were enrolled in our study...
2016: American Journal of Translational Research
Christian Tomuschat, Anne Marie O'Donnell, David Coyle, Nickolas Dreher, Danielle Kelly, Prem Puri
BackgroundThe pathophysiology of Hirschsprung's Disease (HSCR) is not fully understood. A significant proportion of patients have persisting bowel symptoms such as constipation, soiling, and enterocolitis despite correctly performed operations. Animal data suggest that stretch-activated 2-pore domain K(+) channels play a critical role in the maintenance of intestinal barrier integrity.MethodsWe investigated TREK-1 protein expression in ganglionic and aganglionic regions of HSCR patients (n=10) versus normal control colon (n=10)...
July 6, 2016: Pediatric Research
Joon Seol Bae, InSong Koh, Hyun Sub Cheong, Jeong-Meen Seo, Dae-Yeon Kim, Jung-Tak Oh, Hyun-Young Kim, Kyuwhan Jung, Jae Hoon Sul, Woong-Yang Park, Jeong-Hyun Kim, Hyoung Doo Shin
Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. Although the RET proto-oncogene is considered to be the main risk factor for HSCR, only about 30% of the HSCR cases can be explained by variations in previously known genes including RET. Recently, copy number variation (CNV) and loss of heterozygosity (LOH) have emerged as new ways to understand human genomic variation. The goal of this present study is to identify new HSCR genetic factors related to CNV in Korean patients...
June 14, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
Florian Friedmacher, Prem Puri
PURPOSE: The diagnosis of Hirschsprung's disease (HD) was revolutionized by the introduction of rectal suction biopsy (RSB), allowing specimens to be taken without general anesthesia on the ward or as an out-patient procedure. However, insufficient tissue samples are not uncommon, and subsequently histopathologists often remain reluctant to confirm the presence or absence of enteric ganglion cells merely on the basis of submucosal RSBs. The aim of this study was to evaluate the current usage of RSB in the diagnostic work-up of HD based on an international survey...
August 2016: Pediatric Surgery International
Viraj J Mehta, Joseph J Ling, Elizabeth G Martinez, Anvesh C Reddy, Sean P Donahue
Autonomic dysfunction can be associated with pupillary abnormalities. We describe a rare association of tonic pupils, congenital central hypoventilation syndrome, and Hirschsprung disease in a newborn with a mutation in the PHOX2B gene, a key regulator of neural crest cells. Hirschsprung disease is characterized by the congenital absence of neural crest-derived intrinsic ganglion cells. Tonic pupils may result from an abnormality of the ciliary ganglion, another structure of neural crest origin. The close association of these conditions in this child suggests a common abnormality in neural crest migration and differentiation...
June 21, 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
Amol Bapaye, Gajanan Wagholikar, Sameer Jog, Aditi Kothurkar, Shefali Purandare, Nachiket Dubale, Rajendra Pujari, Mahesh Mahadik, Viral Vyas, Jay Bapaye
Hirschsprung's disease (HD) is a congenital disorder characterized by the absence of intrinsic ganglion cells in submucosal and myenteric plexuses of the hindgut; and presents with constipation, intestinal obstruction and/or megacolon. HD commonly involves the rectosigmoid region (short segment HD), although shorter and longer variants of the disease are described. Standard treatment involves pull-through surgery for short segment HD or posterior anorectal myotomy in selected ultrashort segment candidates. Third space endoscopy has evolved during the past few years...
September 2016: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
Anna Löf Granström, Anna Svenningsson, Eva Hagel, Jenny Oddsberg, Agneta Nordenskjöld, Tomas Wester
BACKGROUND AND OBJECTIVES: Hirschsprung disease (HSCR) is a congenital defect of the enteric nervous system characterized by a lack of ganglion cells in the distal hindgut. The aim of this study was to assess the birth prevalence, perinatal characteristics, and maternal risk factors in HSCR patients in Sweden. METHODS: This was a nationwide, population-based, case-control study of all children born in Sweden between 1982 and 2012 and registered in the Swedish Medical Birth Register...
July 2016: Pediatrics
A M Touré, B Charrier, N Pilon
BACKGROUND: In Hirschsprung disease (HSCR), the absence of myenteric neural ganglia in the distal bowel prevents motility and thereby causes functional intestinal obstruction. Although surgical resection of the aganglionic segment allows HSCR children to survive this condition, a number of patients still suffer from impaired motility despite having myenteric ganglia in their postoperative distal bowel. Such phenomenon is also observed in patients suffering from other enteric neuropathies and, in both cases, colonic dysmotility is believed to result from abnormalities of myenteric ganglia and/or associated interstitial cells of Cajal (ICC)...
October 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
David Coyle, Justin M Murphy, Brian Doyle, Anne Marie O'Donnell, John Gillick, Prem Puri
AIM: To determine if expression of colonic tryptophan hydroxylase-2 (TPH2), a surrogate marker of neuronal 5-hydroxytryptamine, is altered in Hirschsprung's-associated enterocolitis. METHODS: Entire resected colonic specimens were collected at the time of pull-through operation in children with Hirschsprung's disease (HSCR, n = 12). Five of these patients had a history of pre-operative Hirschsprung's-associated enterocolitis (HAEC). Controls were collected at colostomy closure in children with anorectal malformation (n = 10)...
May 21, 2016: World Journal of Gastroenterology: WJG
N N Zhang, J Tian, Y Lin, W Zhang, C K Hu, L C Zeng, J Yang, B X Wang, Z Shu, X Jiang
OBJECTIVE: To investigate the role of T-type α1H Ca(2+) channels(Cav 3.2) in the pathogenesis of Hirschsprung disease(HD). METHOD: Eighty neonatal SD rats 6 to 8 days of age were randomly divided into 2 groups, 40 in each. Microinjector catheters were carefully placed into the bowl of one group, and 0.2% benzalkonium chloride (BAC) solution was injected to establish HD rat model. Control group was treated with saline instead of benzalkonium chloride. At postoperative 4, 6 and 8 weeks, ten rats were sacrificed randomly and examined through general observation, histopathological observation and immunofluorescent staining of PGP 9...
May 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Anne-Marie O'Donnell, David Coyle, Prem Puri
AIM: To investigate whether the expression of platelet-derived growth factor receptor-α-positive (PDGFRα(+))-cells is altered in Hirschsprung's disease (HD). METHODS: HD tissue specimens (n = 10) were collected at the time of pull-through surgery, while colonic control samples were obtained at the time of colostomy closure in patients with imperforate anus (n = 10). Immunolabelling of PDGFRα(+)-cells was visualized using confocal microscopy to assess the distribution of these cells, while Western blot analysis was undertaken to quantify PDGFRα protein expression...
March 28, 2016: World Journal of Gastroenterology: WJG
Mariana Tresoldi das Neves Romaneli, Antonio Fernando Ribeiro, Joaquim Murray Bustorff-Silva, Rita Barbosa de Carvalho, Elizete Aparecida Lomazi
OBJECTIVE: To describe the case of an infant with Hirschsprung's disease presenting as total colonic aganglionosis, which, after surgical resection of the aganglionic segment persisted with irreversible functional intestinal obstruction; discuss the difficulties in managing this form of congenital aganglionosis and discuss a plausible pathogenetic mechanism for this case. CASE DESCRIPTION: The diagnosis of Hirschsprung's disease presenting as total colonic aganglionosis was established in a two-month-old infant, after an episode of enterocolitis, hypovolemic shock and severe malnutrition...
September 2016: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
Bing Chen, Hui-Ling Ouyang, Wen-Hua Wang, Yi-Heng Yin, Lin-Na Yan, Bin Yang, Zheng-Feng Xue
Hirschsprung disease (HSCR), or colonic aganglionosis, is a congenital disorder characterized by the absence of intramural ganglia along variable lengths of the colon, resulting in intestinal obstruction. It is the most common cause of congenital intestinal obstruction, with an incidence of 1 in 5,000 live births. N-ethyl-N-nitrosourea (ENU)-induced mutagenesis is a powerful tool for the study of gene function and the generation of human disease models. In the current study, a novel mutant mouse with aganglionic megacolon and coat color spotting was generated by ENU-induced mutagenesis...
July 29, 2016: Experimental Animals
José Antonio López Ruiz, Luis Tallón Aguilar, Laura Sánchez Moreno, José López Pérez, Felipe Pareja Ciuró, Fernando Oliva Mompeán, Francisco Javier Padillo Ruiz
Hirschsprung's disease is characterized by absence of ganglion cells in submucosal and myenteric plexus of distal bowel. Most cases become manifest during the neonatal period, but in rare instances, this disease is initially diagnosed in adult age. It usually presents as severe constipation with colonic dilatation proximal to the aganglionic segment. The treatment is surgical, removing the aganglionic segment and restoring continuity of digestive tract. The disease rarely presents as an acute intestinal obstruction...
February 11, 2016: Revista Española de Enfermedades Digestivas
Masashi Kato, Hiromasa Ninomiya, Masao Maeda, Natsuko Tanaka, Cimi Ilmiawati, Masafumi Yoshinaga
Gorelenkova Miller and Mieyal (Arch Toxicol 89(9): 1439-1467, 2015) recently published a review paper suggesting that reversible cysteine plays a key role in redox-linked signal transduction via alteration of protein function, resulting in an association with many diseases including neurodegenerative disorders. Following their suggestions, we considered the correlation between sulfhydryl-mediated redox signaling and neurodegenerative diseases by focusing on RET proteins, a protein tyrosine kinases (PTKs) potentially sited upstream of the signal transduction cascade...
April 2016: Archives of Toxicology
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