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https://www.readbyqxmd.com/read/27902697/a-novel-zebrafish-ret-heterozygous-model-of-hirschsprung-disease-identifies-a-functional-role-for-mapk10-as-a-modifier-of-enteric-nervous-system-phenotype-severity
#1
Tiffany A Heanue, Werend Boesmans, Donald M Bell, Koichi Kawakami, Pieter Vanden Berghe, Vassilis Pachnis
Hirschsprung disease (HSCR) is characterized by absence of enteric neurons from the distal colon and severe intestinal dysmotility. To understand the pathophysiology and genetics of HSCR we developed a unique zebrafish model that allows combined genetic, developmental and in vivo physiological studies. We show that ret mutant zebrafish exhibit cellular, physiological and genetic features of HSCR, including absence of intestinal neurons, reduced peristalsis, and varying phenotype expressivity in the heterozygous state...
November 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27898990/european-paediatric-surgeons-association-survey-on-the-management-of-hirschsprung-disease
#2
Augusto Zani, Simon Eaton, Francesco Morini, Prem Puri, Risto Rintala, Ernest van Heurn, Marija Lukac, Pietro Bagolan, Joachim F Kuebler, Florian Friedmacher, Rene Wijnen, Juan A Tovar, Michael E Hoellwarth, Agostino Pierro
: Aim This study aims to define patterns of Hirschsprung disease (HD) management. Methods An online questionnaire was sent to all European Paediatric Surgeons' Association (EUPSA) members. Results A total of 294 members (61 countries) answered (response rate: 61%). DIAGNOSIS: All respondents perform rectal biopsies (61% rectal suction [RSBs], 39% open full-thickness), 96% contrast enema, and 31% anorectal manometry. At RSB, 17% take the most distal biopsy 1 cm above the dentate line, 34% take 2 cm, 30% take 3 cm, and 19% take > 3 cm...
November 29, 2016: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27896169/rare-association-of-extended-total-colonic-aganglionosis-and-intestinal-malrotation
#3
Iulia Stratulat-Chiriac, Danielle Mc Laughlin, Brice Antao
Total colonic aganglionosis occurring together with malrotation is a rare occurrence and may pose diagnostic and management dilemmas for the paediatric surgeon. We report a case of a neonate that presented with extended total colonic aganglionosis and malrotation, along with a spectrum of central nervous system and renal abnormalities. The clinical and radiological features and potential diagnostic and management pitfalls are discussed along with a literature review of this exceptionally infrequent association...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896152/a-retrospective-cohort-study-of-total-colonic-aganglionosis-is-the-appendix-a-reliable-diagnostic-tool
#4
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/27858582/long-term-outcome-of-laparoscopic-duhamel-procedure-for-extended-hirschsprung-s-disease
#5
Cécile O Muller, Guillaume Rossignol, Louise Montalva, Jerome Viala, Christine Martinez-Vinson, Alexis Mosca, Dominique Berrebi, Arnaud Bonnard
BACKGROUND: The aim of our study was to report our experience in extended Hirschsprung's disease (HD) in children operated on by laparoscopy. PATIENTS AND METHODS: Retrospective data collection from a single center from 1991 to 2013 concerned extended forms of HD operated on by laparoscopic Duhamel procedure and included extension of aganglionosis, comorbidities, short and late postoperative outcome, and results of endoscopy when performed. RESULTS: Thirty patients presented an extended form of aganglionosis: 5 involving the transverse colon, 10 the right colon, and 15 the ileum (median length = 15 cm, range 1-60)...
November 18, 2016: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/27784831/spectrum-of-clinicopathological-deviations-in-long-segment-hirschsprung-disease-compared-with-short-segment-hirschsprung-disease-a-single-institution-study
#6
Hussein Alnajar, Diana Murro, Alaa Alsadi, Shriram Jakate
Hirschsprung disease (HSCR) is a congenital disorder characterized by intestinal aganglionosis leading to pseudoobstruction. The majority of cases are limited to the rectum or rectosigmoid (S-HSCR). A variably longer segment can be affected (L-HSCR), which may show many deviations from S-HSCR. We retrospectively reviewed 48 clinicopathologically confirmed total cases of HSCR at a single institution in a 21-year period to identify L-HSCR cases and determine their deviations from known features of S-HSCR. Eight L-HSCR cases were found where aganglionosis extended to the terminal ileum (7/8) or to the splenic flexure (1/8)...
October 26, 2016: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27776507/geminin-prevents-dna-damage-in-vagal-neural-crest-cells-to-ensure-normal-enteric-neurogenesis
#7
Chrysoula Konstantinidou, Stavros Taraviras, Vassilis Pachnis
BACKGROUND: In vertebrate organisms, the neural crest (NC) gives rise to multipotential and highly migratory progenitors which are distributed throughout the embryo and generate, among other structures, the peripheral nervous system, including the intrinsic neuroglial networks of the gut, i.e. the enteric nervous system (ENS). The majority of enteric neurons and glia originate from vagal NC-derived progenitors which invade the foregut mesenchyme and migrate rostro-caudally to colonise the entire length of the gut...
October 24, 2016: BMC Biology
https://www.readbyqxmd.com/read/27773089/audit-of-diagnoses-of-neonatal-rectal-aganglionosis-demonstrates-little-role-for-acetylcholinesterase-histochemical-staining
#8
C Chambers, R Lourie
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27755344/rectal-suction-biopsy-in-patients-with-previous-anorectal-surgery-for-hirschsprung-disease
#9
Zareen Vadva, Samuel Nurko, Rebecca Hehn, Sara O Vargas
OBJECTIVES: 1. To determine rates of histologically positive, negative and inconclusive rectal suction biopsies in post-pull-through patients with Hirschsprung disease evaluated for potential residual aganglionosis at our institution. 2. To determine how patients were managed after a post-pull-through rectal suction biopsy. METHODS: Thirty-nine post-pull-through suction biopsies from our institution were reviewed. Samples, stained with H&E and often acetylcholinesterase and/or calretinin, were categorized as "histologically" positive, negative or inconclusive for aganglionosis...
October 13, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27717313/heterozygous-p-s811f-ret-gene-mutation-associated-with-renal-agenesis-oligomeganephronia-and-total-colonic-aganglionosis-a-case-report
#10
Keisuke Sugimoto, Tomoki Miyazawa, Hitomi Nishi, Kohei Miyazaki, Takuji Enya, Mitsuru Okada, Tsukasa Takemura
BACKGROUND: Several shared common gene networks participate in development of interstinal ganglia and also nephron formation; the glial cell line-derived neurotrophic factor/Ret/glial cell line-derived neurotrophic factor receptor gene network is particularly important. CASE PRESENTATION: We encountered a patient with total colonic aganglionosis as well as right renal agenesis and oligomeganephronia. Gene analysis in this patient disclosed a heterozygous p.S811F mutation was in Ret gene exon 14, resulting in a substitution of phenylalanine for serine...
October 7, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27712891/usefulness-of-posterior-sagittal-anorectoplasty-for-redo-pull-through-in-complicated-and-recurrent-hirschsprung-disease-experience-with-a-single-surgical-group
#11
Song Sun, Gong Chen, Shan Zheng, Kuiran Dong, Xianmin Xiao
AIM: To retrospectively examine 12 patients with Hirschsprung disease (HD) who underwent posterior sagittal anorectoplasty (PSARP) for various complications. METHODS: This study included patients with HD who underwent redo pull-through (PT) via PSARP at our institute between 2005 and 2014. The type of initial procedure, clinical presentations, indications, and functional results were analyzed. Postoperative excretory function was assessed using the Krickenbeck classification...
August 31, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27611823/appendicular-biopsy-in-total-colonic-aganglionosis-a-histologically-challenging-and-inadvisable-practice
#12
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/27580402/letter-to-the-editor-corrigendum-to-detection-of-autophagy-in-hirschsprung-s-disease-implication-for-its-role-in-aganglionosis-erratum
#13
(no author information available yet)
No abstract text is available yet for this article.
September 28, 2016: Neuroreport
https://www.readbyqxmd.com/read/27526297/histology-of-the-transition-zone-in-hirschsprung-disease
#14
Raj P Kapur
Surgical management of Hirschsprung disease requires resection of the aganglionic bowel and transition zone, a length of ganglionic bowel, immediately proximal to the aganglionic segment, with neuropathologic features that seem to correlate with dysmotility. Pathologists must be able to recognize histopathologic features of the transition zone in hematoxylin and eosin-stained sections in order to interpret intraoperative frozen sections and ensure adequate resection. The proximal ganglionic portions of colonic resection specimens from 59 patients with distal aganglionosis were analyzed with closely spaced transverse sections to map the distribution of the 3 most commonly referenced features of transition zone (partial circumferential aganglionosis, myenteric hypoganglionosis, and submucosal nerve hypertrophy)...
August 11, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27385111/long-term-results-of-transanal-pull-through-for-hirschsprung-s-disease-a-meta-analysis
#15
J Zimmer, C Tomuschat, P Puri
INTRODUCTION: Several operative techniques have been developed for the treatment of Hirschsprung's disease (HD) in the past decades. Since one-stage transanal pull-through (TAPT) was first performed in 1998, multiple studies have shown favourable short-and midterm results compared to other techniques with shorter operation length, shorter hospital stay and lower complication rates. The aim of this meta-analysis was to determine the longterm results following TAPT for HD. METHODS: A systematic literature search for relevant articles was performed in four databases using the following terms "Hirschsprung/Hirschsprung's disease", "aganglionosis", "transanal", "pullthrough/pull-through", "longterm/long-term" "results", "follow-up" and "outcome"...
August 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27370713/mouse-models-of-hirschsprung-disease-and-other-developmental-disorders-of-the-enteric-nervous-system-old-and-new-players
#16
REVIEW
Nadege Bondurand, E Michelle Southard-Smith
Hirschsprung disease (HSCR, intestinal aganglionosis) is a multigenic disorder with variable penetrance and severity that has a general population incidence of 1/5000 live births. Studies using animal models have contributed to our understanding of the developmental origins of HSCR and the genetic complexity of this disease. This review summarizes recent progress in understanding control of enteric nervous system (ENS) development through analyses in mouse models. An overview of signaling pathways that have long been known to control the migration, proliferation and differentiation of enteric neural progenitors into and along the developing gut is provided as a framework for the latest information on factors that influence enteric ganglia formation and maintenance...
September 15, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27321561/epigenetics-in-ens-development-and-hirschsprung-disease
#17
REVIEW
A Torroglosa, M M Alves, R M Fernández, G Antiñolo, R M Hofstra, S Borrego
Hirschsprung disease (HSCR, OMIM 142623) is a neurocristopathy caused by a failure of the enteric nervous system (ENS) progenitors derived from neural crest cells (NCCs), to migrate, proliferate, differentiate or survive to and within the gastrointestinal tract, resulting in aganglionosis in the distal colon. The formation of the ENS is a complex process, which is regulated by a large range of molecules and signalling pathways involving both the NCCs and the intestinal environment. This tightly regulated process needs correct regulation of the expression of ENS specific genes...
September 15, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27278627/male-specific-colon-motility-dysfunction-in-the-tasht-mouse-line
#18
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
https://www.readbyqxmd.com/read/27273837/chronic-intestinal-pseudo-obstruction-in-a-child-harboring-a-founder-hirschsprung-ret-mutation
#19
Valentina Rossi, Manuela Mosconi, Paolo Nozza, Daniele Murgia, Girolamo Mattioli, Isabella Ceccherini, Alessio Pini Prato
Chronic intestinal pseudo obstruction (CIPO) is a rare clinical entity characterized by symptoms and signs of intestinal obstruction without either recognizable anatomical abnormalities or intestinal aganglionosis. A Chinese female infant presented to our institution with a clinical diagnosis of CIPO. Aganglionosis was ruled out by full thickness colonic and ileal biopsies and by rectal suction biopsies. Unexpectedly, direct sequencing and PCR amplification of RET proto-oncogene from peripheral blood extracted DNA identified a RET R114H mutation...
September 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27251658/how-to-manage-a-late-diagnosed-hirschsprung-s-disease
#20
Mohamed Ouladsaiad
BACKGROUND: How to manage a late diagnosed Hirschsprung's disease (HD) and how to avoid calibre discrepancy? SUBJECTS AND METHODS: A retrospective study of all patients diagnosed with HD over 2 years in our hospital from January 2009 to December 2012. Data were analysed for clinical presentations, investigations, surgical procedures and post-operative outcome. RESULTS: Fifteen patients, operated by one single surgeon, were included in this study...
April 2016: African Journal of Paediatric Surgery: AJPS
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