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https://www.readbyqxmd.com/read/28983688/inflammatory-bowel-disease-in-patients-with-hirschsprung-s-disease-a-systematic-review-and-meta-analysis
#1
H Nakamura, T Lim, P Puri
AIM AND OBJECTIVES: Hirschsprung-associated enterocolitis (HAEC) continues to be an important cause of morbidity in patients with Hirschsprung's disease (HSCR). HAEC can occur at any time during the course of the disease. The reported incidence of HAEC before surgery ranges from 6 to 50%, and after surgery, it ranges from 2 to 35%. HAEC and inflammatory bowel disease (IBD) have similar clinical presentation including diarrhea, hematochezia, and abdominal pain. In recent years, isolated cases of IBD have been reported in patients who had surgical treatment for HSCR...
October 5, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28930629/large-scale-replication-study-identified-multiple-independent-snps-in-ret-synergistically-associated-with-hirschsprung-disease-in-southern-chinese-population
#2
Yan Zhang, Qiuming He, Ruizhong Zhang, Hong Zhang, Wei Zhong, Huimin Xia
Hischsprung disease (HSCR) is an intestinal disorder with strong genetic components. RET was considered as the strongest contributor. Multiple single nucleotide polymorphisms (SNP) were demonstrated as associated with HSCR in different populations. However, whether the associations of reported SNPs derived from one causal variants or congregations of multiple variants were still not clear. In this study, we successfully genotyped 16 SNPs in RET with a largest case-control study to date, totaling 1470 HSCR and 1473 control subjects in South Chinese population...
September 20, 2017: Aging
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#3
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28920022/familial-near-total-intestinal-aganglionosis
#4
Hidouri Saida, Zitouni Hayet, Chahed Jamila, Mosbahi Sana, Belhassen Samia, Ksiaa Amine, Hmida Badii, Krichene Imed, Sahnoun Lassad, Mekki Mongi, Belguith Mohsen, Nouri Abdellatif
Near total aganglionosis represents the most extreme and rare form of Hirschsprung's disease. It can affect more than one member of family. We report three cases of near total intestinal aganglionosis in a family presenting with intestinal obstruction at birth. All of them were operated and a jejunostomy was performed. Outcome was dismal.
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28910873/-differential-expression-and-clinical-significance-of-calretinin-in-total-colonic-aganglionosis
#5
L Q Ke, J Huang, L L Liu, M J Huang, Q Zhang, J C Wang, W Zhang
Objective: To evaluate the differential calretinin immunostaining in different segments of total colonic aganglionosis and its utility in the diagnosis. Methods: Nine specimens including ileum and colon segments were obtained from 9 patients with total colonic aganglionosis (TCA), from 2010 to 2016 year, in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology. Another 9 ganglionic specimens including the same segments from patients with non-Hirschsprung disease (non-HD) patients were collected as control...
September 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28857374/histology-with-immunohistochemistry-of-the-fistula-region-in-female-anorectal-malformation-can-it-be-used-for-neo-anus-reconstruction
#6
Anand Pandey, Pinky Pandey, Shailendra P Singh, Savita Agarwal, Vipin Gupta, Rajesh Verma
AIM: Female anorectal malformation is characterised by communication to the exterior by a fistula. There are conflicting reports of the presence of normal anus in the fistula region. This study was undertaken to assess the histopathology and immunohistochemical correlation of the terminal portion of the fistula in female patients and suitability of fistula incorporation in the reconstruction of the neo-anus. METHODS: This prospective study included 13 patients of female anorectal malformation...
August 30, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28855726/effects-of-nrg1-polymorphisms-on-hirschsprung-s-disease-susceptibility-a-meta-analysis
#7
Meng Jiang, Changli Li, Guoqing Cao, Dehua Yang, Xi Zhang, Li Yang, Shuai Li, Shao-Tao Tang
Substantial resources have been devoted to evaluate the relationship between NRG1 variants rs7835688 and rs16879552 and Hirschsprung's Disease (HSCR) but no consistency exists. This meta-analysis aimed to assess the association between the two SNPs and HSCR. PubMed, EMBASE, and Chinese Biological Medicine databases were searched for studies potentially eligible up to March, 2017. The summary odds ratios (ORs) with 95% CIs were calculated from different genetic models. Nine case-control studies (8 for both and 1 for rs16879552 only) involving 1984 HSCR patients and 4220 controls were identified...
August 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28854959/hemophagocytic-lymphohistiocytosis-presenting-in-a-pediatric-patient-with-near-total-colonic-and-small-bowel-aganglionosis-a-case-report
#8
Brittany Badal, Michael J Wilsey, Sara Karjoo
BACKGROUND: Total colonic and small bowel aganglionosis is a rare condition typically requiring intestinal transplant for long-term survival. There have not been any previously reported cases of near total intestinal aganglionosis complicated by concerns for hemophagocytic lymphohistiocytosis and need for both multivisceral organ transplant and hematopoietic stem cell transplant. CASE PRESENTATION: Our patient is a 35-month-old Egyptian boy who presented with bilious emesis and failure to pass meconium shortly after birth...
August 31, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28755898/comparison-of-hirschsprung-associated-enterocolitis-following-soave-and-duhamel-procedures
#9
Isidora Galuh Parahita, Akhmad Makhmudi, Gunadi
BACKGROUND: Hirschsprung-associated enterocolitis (HAEC) represents the primary cause of high morbidity and mortality in Hirschsprung disease (HSCR) patients. The most common surgical methods for HSCR are the Soave and Duhamel procedures. Therefore, we aimed to compare the HAEC frequency following the Soave and Duhamel procedures. METHODS: Medical records were retrospectively analyzed for patients who underwent the Soave and Duhamel pull-through at Dr. Sardjito Hospital, Indonesia from 2010 to 2015...
July 17, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28727975/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
Background 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) and age matched controls with frozen and paraffin sections, rapid acetylcholinesterase (AChE) and immunohistochemistry...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28706618/isolated-ileal-perforation-in-infancy-a-lethal-initial-presentation-of-hirschsprung-s-disease
#11
Fadi Iskandarani, Chawki Hammoud, Sarah Srour, Gloria Pelizzo, Ghassan Nakib, Valeria Calcaterra, Amir Khanafer
Arare case of ileal perforation, as a fatal initial presentation of total colonic aganglionosis (TCA) in infancy is reported. A 10-week-old boy, was brought to the emergency department with symptoms of complicated intestinal obstruction. He looked ill, was lethargic, markedly dehydrated and had a severely distended abdomen. An abdominal X-ray revealed multiple air fluid levels seen in a distended small intestine. During exploratory laparotomy the ileum was massively dilated with distal segment perforation. Ileal perforation repair was performed...
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28705638/laparoscopic-assisted-duhamel-procedure-with-ex-anal-rectal-transection-for-total-colonic-aganglionosis
#12
Xi Zhang, Guo-Qing Cao, Shao-Tao Tang, Xiao-Pan Chang, Shuai Li, Li Yang, Kang Li, Ying Zhou, De-Hua Yang
PURPOSE: Laparoscopic-assisted Duhamel procedure has a larger anastomosis and a reservoir which allows early recovery of defecation frequency, but concerns have been raised regarding the long operative time, high incidence of pouchitis and Hirschsprung associated enterocolitis (HAEC). The purpose of this study was to evaluate the postoperative complications and functional outcomes for patients with TCA undergoing modified laparoscopic-assisted Duhamel procedure (MLDP) with ex-abdominal partial colectomy and ex-anal rectal transection...
June 27, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28681569/diagnostic-use-of-endoscopic-full-thickness-wall-resection-eftr-a-novel-minimally-invasive-technique-for-colonic-tissue-sampling-in-patients-with-severe-gastrointestinal-motility-disorders
#13
P V Valli, D Pohl, M Fried, R Caduff, P Bauerfeind
BACKGROUND: Complex gastrointestinal (GI) motility disorders such as chronic intestinal pseudo-obstruction (CIPO) or Hirschsprung's disease (HD) are challenging to diagnose and treat appropriately. Thorough assessment of patient history, radiographic exams, endoscopy, and motility measurements aid in diagnostic workup, yet underlying histology is the cornerstone to enable a more distinct diagnosis of neuromuscular GI disorders. Traditionally, surgical procedures have been performed to obtain specimen suitable for accurate histologic analysis...
July 6, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28601901/hirschsprung-s-disease-in-twins-a-systematic-review-and-meta-analysis
#14
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"...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28600660/hirschsprung-disease-current-diagnosis-and-management
#15
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.
August 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
#16
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...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28582312/development-of-nerve-fibre-diameter-in-young-infants-with-hirschsprung-disease
#17
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
#18
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
#19
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
#20
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...
July 2017: Gastroenterology
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