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Ganglion cells in Hirschsprungs disease

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https://www.readbyqxmd.com/read/28087137/nos-interacting-protein-nosip-is-increased-in-the-colon-of-patients-with-hirschsprung-s-disease
#1
Anne-Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: Voltage-dependent K(+) channels (Kv channels) participate in electrical rhythmicity and smooth muscle responses and are regulated by excitatory and inhibitory neurotransmitters. Kv channels also participate in the interstitial cell of Cajal (ICC) and smooth muscle cell (SMC) responses to neural inputs. The Kv family consists of 12 subfamilies, Kv1-Kv12, with five members of the Kv7 family identified to date: Kv7.1-Kv7.5. A recent study identified the potassium channel Kv7.5 as having a role in the excitability of ICC-IM in the mouse colon...
January 3, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28003043/genetic-impact-on-the-treatment-management-of-hirschsprung-disease
#2
REVIEW
Sam W Moore
BACKGROUND: The identification of Hirschsprung's disease (HD) as a genetic condition has been a major step forward in understanding the development of the enteric nervous system and conditions arising from ganglion cell maldevelopment. METHOD: A study of the role of genetics in HD was carried out based on previously published findings from more than 400 cases of HD. RESULTS: There are at least 7 pertinent clinical questions related to HD which were further investigated...
November 13, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27988850/advances-in-understanding-functional-variations-in-the-hirschsprung-disease-spectrum-variant-hirschsprung-disease
#3
REVIEW
S W Moore
Hirschsprung disease (HSCR) is a fairly well understood congenital, genetically based functional obstruction due to the congenital absence of ganglion cells in the distal bowel. However, although over 90% of Hirschsprung cases conform to the normally accepted histological diagnostic criteria, it has become increasingly clear that in addition to HSCR, there is a group of functional disturbances relating to a number of other congenital neurodysplastic conditions causing some degree of gastrointestinal tract malfunction...
December 17, 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27916369/expression-of-connexin-26-and-connexin-43-is-reduced-in-hirschsprung-s-disease
#4
David Coyle, Brian Doyle, Justin M Murphy, Anne Marie O'Donnell, John Gillick, Prem Puri
BACKGROUND: Despite having an optimal pull-through operation, some children with Hirschsprung's disease (HSCR) continue to experience persistent bowel symptoms. Coordinated colonic electrical activity depends on intercellular communication between the enteric nerves, interstitial cells of Cajal (ICCs), smooth muscle cells, and fibroblast-like (platelet-derived growth factor receptor-alpha-positive) cells. Gap junctions are low-resistance channels composed of connexin (Cx) proteins which couple cells electrically and chemically...
November 2016: Journal of Surgical Research
https://www.readbyqxmd.com/read/27896152/a-retrospective-cohort-study-of-total-colonic-aganglionosis-is-the-appendix-a-reliable-diagnostic-tool
#5
T O'Hare, M McDermott, M O'Sullivan, P Dicker, B Antao
BACKGROUND: Hirschsprung's disease (HD) is characterized by a lack of ganglion cells in the myenteric and submucosal plexus, associated with increased numbers of acetyl cholinesterase (AChE) positive nerve fibres. In approximately 10% of patients with HD the entire colon will be affected; a condition known as Total Colonic Aganglionosis (TCA). Aganglionosis of the appendix has long been considered to be an important finding in a patient in whom TCA is suspected, but its reliability for diagnosis has seldom been discussed...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27895411/reoperation-in-an-adult-female-with-right-sided-hirschsprung-s-disease-complicated-by-refractory-hypertension-and-cough
#6
Zhi-Jian Wei, Lei Huang, A-Man Xu
Hirschsprung's disease (HD) is an intestinal malformation caused by the innate absence of ganglion cells in the neural plexus of the colorectal wall, and is most common in male infants. It is rare in adult, and is usually left-sided. Herein we reported based on the CARE guidelines a case of a 47-year-old adult female suffering from "right-sided" HD complicated by refractory hypertension and cough. The patient with a history of cesarean section and with digestive unfitness (abdominal pain, distention, and constipation) only since 20 years old had recurrence of HD after initial surgery due to the incomplete removal of the HD-affected bowel based on a diagnosis of "chronic ileus", leading to the relapse of the digestive symptoms and the emergence of some intractable circulatory and respiratory complications which could be hardly controlled by conservative treatment...
November 7, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27775297/-outcome-of-posterior-anorectal-myectomy-for-the-treatment-of-idiopathic-chronic-constipation
#7
M Ortega Escudero, J M Gutiérrez Dueñas, C Hernández Díaz, C Ruiz Hierro, R Chamorro Juárez, E Ardela Díaz
OBJECIVES: The aim of this study is to assess the outcome of surgery (Lynn's myectomy) in patients with chronic persistent constipation and failure of medical treatment. MATERIAL AND METHODS: Descriptive study of patients with severe chronic constipation treated by posterior anorectal myectomy (Lynn's technique). We report data from the last 15 years, with a minimum postoperative follow-up of one year. Patients included in the study suffered from a long-term constipation refractory to medical management...
October 10, 2015: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27620161/morphometric-profile-of-large-intestinal-neuronal-plexuses-in-normal-perinatal-autopsies-and-hirschsprung-disease
#8
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
https://www.readbyqxmd.com/read/27619161/deregulation-of-the-planar-cell-polarity-genes-celsr3-and-fzd3-in-hirschsprung-disease
#9
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
https://www.readbyqxmd.com/read/27611823/appendicular-biopsy-in-total-colonic-aganglionosis-a-histologically-challenging-and-inadvisable-practice
#10
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
https://www.readbyqxmd.com/read/27586151/pathological-changes-of-interstitial-cells-of-cajal-and-ganglion-cells-in-the-segment-of-resected-bowel-in-hirschsprung-s-disease
#11
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
https://www.readbyqxmd.com/read/27567306/altered-expression-of-retinoblastoma-1-in-hirschsprung-s-disease
#12
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
https://www.readbyqxmd.com/read/27508037/calretinin-s100-and-protein-gene-product-9-5-immunostaining-of-rectal-suction-biopsies-in-the-diagnosis-of-hirschsprung-disease
#13
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
https://www.readbyqxmd.com/read/27384506/altered-expression-of-a-two-pore-domain-k2p-mechano-gated-potassium-channel-trek-1-in-hirschsprung-s-disease
#14
Christian Tomuschat, Anne Marie O'Donnell, David Coyle, Nickolas Dreher, Danielle Kelly, Prem Puri
BACKGROUND: The 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. METHODS: We investigated TREK-1 protein expression in ganglionic and aganglionic regions of HSCR patients (n = 10) vs...
November 2016: Pediatric Research
https://www.readbyqxmd.com/read/27370899/a-genome-wide-association-analysis-of-chromosomal-aberrations-and-hirschsprung-disease
#15
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
https://www.readbyqxmd.com/read/27350541/current-practice-patterns-of-rectal-suction-biopsy-in-the-diagnostic-work-up-of-hirschsprung-s-disease-results-from-an-international-survey
#16
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
https://www.readbyqxmd.com/read/27340804/congenital-tonic-pupils-associated-with-congenital-central-hypoventilation-syndrome-and-hirschsprung-disease
#17
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...
December 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/27307403/per-rectal-endoscopic-myotomy-for-the-treatment-of-adult-hirschsprung-s-disease-first-human-case-with-video
#18
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
https://www.readbyqxmd.com/read/27307146/maternal-risk-factors-and-perinatal-characteristics-for-hirschsprung-disease
#19
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
https://www.readbyqxmd.com/read/27278627/male-specific-colon-motility-dysfunction-in-the-tasht-mouse-line
#20
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
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