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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
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
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
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
(no author information available yet)
No abstract text is available yet for this article.
September 28, 2016: Neuroreport
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
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
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
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
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
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
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
F Giancola, F Gentilini, N Romagnoli, A Spadari, M E Turba, M Giunta, J Sadeghinezhad, C Sorteni, R Chiocchetti
Equine ileocolonic aganglionosis, which is also called lethal white foal syndrome (LWFS), is a severe congenital condition characterized by the unsuccessful colonization of neural crest progenitors in the caudal part of the small intestine and the entire large intestine. LWFS, which is attributable to a mutation in the endothelin receptor B gene, is the horse equivalent of Hirschsprung's disease in humans. Affected foals suffer from aganglionosis or hypoganglionosis of the enteric ganglia resulting in intestinal akinesia and colic...
October 2016: Cell and Tissue Research
Kengo Akashi, Jun Saegusa, Sho Sendo, Keisuke Nishimura, Takuya Okano, Keiko Yagi, Masashi Yanagisawa, Noriaki Emoto, Akio Morinobu
BACKGROUND: Endothelin-1 (ET-1) is important in the pathogenesis of systemic sclerosis (SSc). ET-1 binds two receptors, endothelin type A (ETA) and endothelin type B (ETB). Dual ETA/ETB receptor antagonists and a selective ETA receptor antagonist are used clinically to treat SSc, and the effect of these antagonists on fibroblast activation has been described. However, the role of ETB receptor signaling in fibrogenesis is less clear. This study was conducted to evaluate the profibrotic function of ETB receptor signaling in a murine model of bleomycin (BLM)-induced scleroderma...
2016: Arthritis Research & Therapy
Qi Li, Zhen Zhang, Mei Diao, Liang Gan, Wei Cheng, Ping Xiao, Lin Su, Shaofang Shangguan, Qian Jiang, Long Li
OBJECTIVES: Hirschsprung disease (HSCR) is a congenital aganglionosis of myenteric and submucosal plexuses affecting a variable length of the intestine. The incidence of HSCR is ∼1/5,000 live births; however, the risk shows remarkable individual variation caused by single nucleotide polymorphisms (SNPs) at the RET, SEMA3, and NRG1 loci. This study investigated the effects of these variants on the disease development and phenotype in a Chinese population. METHODS: In total, 6 SNPs were genotyped in a cohort consisting of 115 HSCR patients and 117 unaffected controls using a TaqMan genotyping assay...
May 19, 2016: Journal of Pediatric Gastroenterology and Nutrition
Chaeyoun Oh, Sanghoon Lee, Suk-Koo Lee, Jeong-Meen Seo
Anorectal innervation that governs sensation, motor function, and rectal accommodation can be influenced by the type of surgical procedure used to treat children with Hirschsprung disease. At our institution, we began to perform single-stage, laparoscopy-assisted transanal endorectal pull-through (LATEP) with submucosal dissection and anastomosis of the ganglionated bowel at 2 different levels relative to the dentate line.This retrospective study describes postoperative stool frequency changes in response to this procedure...
April 2016: Medicine (Baltimore)
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
J-G Shin, D-Y Kim, J-M Seo, J-T Oh, K-W Park, H-Y Kim, B L Park, J-H Kim, H D Shin
BACKGROUND: Hirschsprung disease (HSCR) is a congenital bowel disease caused by the absence of nerve cells in portions of the intestine. Our recent genome-wide association study has identified a variant (rs1254900) of vesicle-associated membrane protein 5 (VAMP5) as a potential risk locus for total colonic aganglionosis (TCA) in HSCR. In addition, VAMP5 is a member of the VAMP/synaptobrevin protein complex, which participates in nerve signal transduction by regulating the vesicular fusion of the neurotransmitter in synaptic transmission...
July 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
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]...
April 12, 2016: Annals of Surgery
Jakov Mihanović, Ivo Jurić, Zenon Pogorelić, Ivana Mrklić, Miro Jukić, Dubravko Furlan
INTRODUCTION: Hirschsprung's disease is a congenital colonic aganglionosis, usually presented as inability or difficulty in passing of meconium, chronic and persistent obstipation, maleficent feeding, vomiting, distension and lethargy. CASE PRESENTATION: We presented a case of an in-vitro conceived quadruplet premature neonate who presented with pneumoperitoneum caused by transverse colon spontaneous perforation and microcolon appearance of distal bowel, treated by resection and temporary colostomy turns to be a rare manifestation of Hirschsprung's disease...
2015: Acta Medica (Hradec Králové)
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