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Ganglion cells in Hirschsprungs disease

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https://www.readbyqxmd.com/read/29764583/-syndromic-hirschsprung-prime-s-disease-and-its-mode-of-inheritance
#1
Jing-Ru Zhang, Zhi-Bo Zhang
Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. HSCR is considered a type of neurocristopathy caused by no colonization of ganglion cells on some parts of the bowel wall due to abnormal termination of the migration of vagal neural cells during embryonic development. This disease can be classified into different types according to the length of the affected intestinal canal. Most HSCR patients present with single deformity, but some HSCR patients are affected by other deformities, which constitutes syndromic HSCR, such as congenital central hypoventilation syndrome, Fryns syndrome, and cartilage-hair hypoplasia syndrome...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29681101/a-patient-with-peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-and-severe-hypoganglionosis-associated-with-a-novel-sox10-mutation
#2
Yuko Akutsu, Kentaro Shirai, Akira Takei, Yudai Goto, Tomohiro Aoyama, Akimitu Watanabe, Masatoshi Imamura, Takashi Enokizono, Tatsuyuki Ohto, Tetsuo Hori, Keiko Suzuki, Masaharu Hayashi, Kouji Masumoto, Ken Inoue
In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of SOX10. She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. The persistence of ganglion cells made both the diagnosis and treatment difficult in the neonatal period. She also showed hypopigmentation of the irises, hair and skin, bilateral sensorineural deafness with hypoplastic inner year, severe demyelinating neuropathy with hypotonia, and diffuse brain hypomyelination...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29605259/gene-expression-profiling-coupled-with-connectivity-map-database-mining-reveals-potential-therapeutic-drugs-for-hirschsprung-disease
#3
Shang-Jie Xiao, Xiao-Chun Zhu, Hua Deng, Wei-Ping Zhou, Wen-Yi Yang, Li-Ke Yuan, Jiang-Yu Zhang, Song Tian, Lu Xu, Liang Zhang, Hui-Min Xia
BACKGROUND: Hirschsprung disease (HD) is a congenital intestinal anomaly resulting from a failure to form enteric ganglia in the lower bowel. Surgery is the main therapeutic strategy, although neural stem cell transplantation has recently shown promise. However, HD remains a challenging disorder to treat. Our aim was to identify drugs that could counteract the dysregulated pathways in HD and could thus be potential novel therapies. METHODS: We used microarray analysis to identify genes differentially expressed in ganglionic and aganglionic bowel samples from eight children with HD...
March 4, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29532690/diagnostic-accuracy-of-combined-acetylcholinesterase-histochemistry-and-calretinin-immunohistochemistry-of-rectal-biopsy-specimens-in-hirschsprung-s-disease
#4
Hasong Jeong, Hye Ra Jung, Ilseon Hwang, Sun Young Kwon, Misun Choe, Yu Na Kang, Eunyoung Jung, Sang Pyo Kim
BACKGROUND: Acetylcholinesterase (AchE) histochemistry has been established as an accurate diagnostic tool for Hirschsprung's disease (HD). In addition, calretinin immunohistochemistry is also reported as a reliable and adjunctive method to diagnose HD. We investigated the diagnostic value of combined AchE histochemistry and calretinin immunohistochemistry in rectal suction biopsies from HD and non-HD patients. METHODS: We retrospectively reviewed 99 rectal suction biopsy specimens including 4 repeat biopsies from 95 patients (34 HD and 61 non-HD)...
March 1, 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29484400/gli-family-zinc-finger-1-is-associated-with-endothelin-receptor-type-b-in-hirschsprung-disease
#5
Weizhen Liu, Juan Pan, Jinbo Gao, Xiaoming Shuai, Shaotao Tang, Guobin Wang, Kaixiong Tao, Chuanqing Wu
Hirschsprung disease (HSCR) is a newborn colorectal disease characterized by an absence of ganglia in the distal gut. Hedgehog (Hh) and endothelin signaling serve important roles in gastrointestinal tract formation. Alterations in the signaling pathways disrupt the development of enteric neural crest cells (ENCCs). It is not known whether there is any coordination between these pathways in the pathogenesis of HSCR. In the present study, tissue samples from 35 patients with HSCR, including stenotic aganglionosis gut and normal ganglionic gut, were obtained...
April 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29483666/uncovering-the-genetic-lesions-underlying-the-most-severe-form-of-hirschsprung-disease-by-whole-genome-sequencing
#6
Clara Sm Tang, Xuehan Zhuang, Wai-Yee Lam, Elly Sau-Wai Ngan, Jacob Shujui Hsu, Y U Michelle, S O Man-Ting, Stacey S Cherny, Ngoc Diem Ngo, Pak C Sham, Paul Kh Tam, Maria-Mercè Garcia-Barcelo
Hirschsprung disease (HSCR) is a complex birth defect characterized by the lack of ganglion cells along a variable length of the distal intestine. A large proportion of HSCR patients remain genetically unexplained. We applied whole-genome sequencing (WGS) on 9 trios where the probands are sporadically affected with the most severe form of the disorder and harbor no coding sequence variants affecting the function of known HSCR genes. We found de novo protein-altering variants in three intolerant to change genes-CCT2, VASH1, and CYP26A1-for which a plausible link with the enteric nervous system (ENS) exists...
February 26, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29383490/altered-goblet-cell-function-in-hirschsprung-s-disease
#7
Hiroki Nakamura, Christian Tomuschat, David Coyle, Anne-Marie O'Donnel, Tristan Lim, Prem Puri
AIMS AND OBJECTIVES: Hirschsprung's disease-associated enterocolitis (HAEC) is the most serious complication of Hirschsprung's disease (HSCR). HAEC occurs in 17-50% of patients with HSCR and may occur before or after a properly performed pull-through operation. The pathogenesis of HAEC is poorly understood. It is well recognized that a complex mucosal barrier protects, as the first line of defense, the surface of healthy intestinal tract from adhesion and invasion by luminal micro-organisms...
February 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29212517/is-hematoxylin-eosin-staining-in-rectal-mucosal-and-submucosal-biopsies-still-useful-for-the-diagnosis-of-hirschsprung-disease
#8
Suellen Serafini, Maria Mercês Santos, Ana Cristina Aoun Tannuri, Maria Claudia Nogueira Zerbini, Maria Cecília de Mendonça Coelho, Josiane de Oliveira Gonçalves, Uenis Tannuri
BACKGROUND: Hematoxylin-eosin (HE) staining of a full-thickness rectal wall fragment is classically used for the diagnosis of Hirschsprung disease (HD). However, this technique requires large fragments for a better diagnosis. Additionally, the histochemical and immunohistochemical methods of staining small fragments of rectal mucosal and submucosal biopsies are not available in all centers. Therefore, the possibility of diagnosing HD through HE staining in these biopsies could be a valuable alternative for centers that do not have more specific techniques...
December 6, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/29162749/role-of-synaptophysin-in-the-intraoperative-assessment-of-quadrantic-innervation-of-the-proximal-doughnut-in-hirschsprung-disease
#9
Lokendra Yadav, M K Babu, Kanishka Das, Suravi Mohanty, P Divya, Gowri Shankar, Usha Kini
BACKGROUND: Symptoms may persist in a retained aganglionic segment of the colon after corrective (pull-through) surgery in Hirschsprung disease (HD). Thus, it is important to assess the proximal doughnut for innervation abnormalities intraoperatively by frozen sections stained with conventional haematoxylin and eosin stain and supported by rapid acetylcholinesterase (AChE) histochemistry. When the doughnut is proximal to the sigmoid colon, AChE is not useful and requires ratification by yet another rapid technique and hence this study...
July 2017: National Medical Journal of India
https://www.readbyqxmd.com/read/29108502/colonic-adventitial-fibromuscular-dysplasia-a-nonspecific-arteriopathy-associated-with-hirschsprung-disease-and-other-obstructive-disorders
#10
Ameet I Thaker, Raj P Kapur
Background Smooth muscle differentiation ("adventitial fibromuscular dysplasia," AFD) was purported as specific to arteries in the transition zone of Hirschsprung disease (HSCR) patients. We investigated AFD in an HSCR population and controls and consider the pathogenesis and significance of the vascular pathology. Design Vascular histology in sections from colonic HSCR resections (n = 55) was compared with age- and site-matched controls with (n = 19) and without (n = 28) non-HSCR obstructive conditions...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28985842/increased-population-of-immature-enteric-glial-cells-in-the-resected-proximal-ganglionic-bowel-of-hirschsprung-s-disease-patients
#11
Gakuto Tani, Christian Tomuschat, Anne Marie O'Donnell, David Coyle, Prem Puri
BACKGROUND: Enteric glial cells are essential for normal gastrointestinal function. Abnormalities in glial structure, development, or function lead to disturbances in gastrointestinal physiology. Fatty acid-binding protein 7 (FABP7) is a marker of immature enteric glial cells, whereas S100 is expressed only by mature glial cells. Patients with Hirschsprung's disease (HSCR) often suffer from dysmotility and enterocolitis despite proper surgery. We designed this study to determine the distribution and expression of glial cells in patients with HSCR compared to normal controls...
October 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28893560/emr-is-superior-to-rectal-suction-biopsy-for-analysis-of-enteric-ganglia-in-constipation-and-dysmotility
#12
Kenneth Barshop, Field F Willingham, William R Brugge, Lawrence R Zukerberg, Braden Kuo
BACKGROUND AND AIMS: Patients with chronic constipation or motility disorders may be referred for rectal suction biopsy (RSB) to rule out Hirschsprung's disease (HD). RSB may not be successful beyond infancy because of the increased thickness of the rectal mucosa. EMR could improve the diagnostic yield for HD when compared with traditional RSB because larger and deeper samples are acquired for analysis. METHODS: In this prospective, single-center study, patients referred for RSB were offered enrollment for concurrent EMR...
March 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28799054/identification-of-a-novel-variant-of-the-ret-proto-oncogene-in-a-novel-family-with-hirschsprung-s-disease
#13
Takafumi Kawano, Kazuyoshi Hosomichi, Ituro Inoue, Ryuichi Shimono, Shun Onishi, Kazuhiko Nakame, Tatsuru Kaji, Hiroshi Matsufuji, Satoshi Ieiri
PURPOSE: Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of ganglion cells in the Auerbach's and Meissner's plexuses. Although about 7% of cases are hereditary, the causal mutations have not been completely characterized. We encountered a novel family with inherited HSCR and screened them for causal mutations. METHODS: A Japanese family of five female patients and six unaffected individuals was subjected to a whole-exome analysis with a next-generation sequencer...
October 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28727975/appendicular-biopsy-in-total-colonic-aganglionosis-a-histologically-challenging-and-inadvisable-practice
#14
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
#15
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/28689885/reduction-of-hydrogen-sulfide-synthesis-enzymes-cystathionine-%C3%AE-synthase-and-cystathionine-%C3%AE-lyase-in-the-colon-of-patients-with-hirschsprungs-disease
#16
Christian Tomuschat, Anne Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: Hirschsprung associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in Hirschsprung Disease (HSCR). The pathogenesis of HAEC is poorly understood. In recent years, there is increasing evidence that a compromised intestinal barrier function plays a major role in the pathogenesis of HAEC. Hydrogen sulfide, synthesized from L-cysteine by two key enzymes, cystathionine-β-synthase (CBS) and cystathionine-γ-lysase (CSE) is reported to play a key role in regulating gastrointestinal motility and promoting resolution of inflammation...
March 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28656720/down-regulation-of-fibronectin-and-the-correlated-expression-of-neuroligin-in-hirschsprung-disease
#17
Y Zheng, X Lv, D Wang, N Gao, Q Zhang, A Li
AIM: The goal of this study was to investigate the expression of fibronectin (FN) and the correlated abundance of neuroligins (NLs) in the enteric nervous system (ENS) and to find a novel diagnostic marker in the serum of Hirschsprung disease (HSCR) patients. METHODS: The expression levels of FN, neuroligin-1 and neuroligin-2 were detected in 114 children with or without HSCR. The expression and localization of the NLs and FN were assessed morphologically by immunohistochemical staining...
December 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28629350/the-utility-of-the-hematoxylin-and-eosin-staining-in-patients-with-suspected-hirschsprung-disease
#18
Josephine Amanda Setiadi, Andi Dwihantoro, Kristy Iskandar, Didik Setyo Heriyanto, Gunadi
BACKGROUND: While immunohistochemistry (IHC) methods have been widely conducted for the diagnosis of Hirschsprung disease (HSCR) in developed countries, there are very few studies on their use in developing countries where hematoxylin and eosin (HE) staining is a key element of the diagnosis of HSCR. We aimed to determine the accuracy of HE staining in the diagnosis of HSCR using S100 IHC as the reference standard in Indonesia. METHODS: All histopathology performed for the suspicion of HSCR patients from January 2013 to August 2015 in Dr...
June 19, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28562483/investigation-of-the-expression-of-apoptosis-inducing-factor-mediated-apoptosis-in-hirschsprung-s-disease
#19
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/28543993/genetic-background-of-hirschsprung-disease-a-bridge-between-basic-science-and-clinical-application
#20
Afsane Bahrami, Marjan Joodi, Mehrdad Moetamani-Ahmadi, Mina Maftouh, Seyed Mahdi Hassanian, Gordon A Ferns, Amir Avan
Hirschsprung's disease (HSCR) is a congenital disorder, defined by partial or complete loss of the neuronal ganglion cells in the intestinal tract, which is caused by the failure of neural crest cells to migrate completely during intestinal development during fetal life. HSCR has a multifactorial etiology, and genetic factors play a key role in its pathogenesis; these include mutations within several gene loci. These have been identified by screening candidate genes, or by conducting genome wide association (GWAS) studies...
January 2018: Journal of Cellular Biochemistry
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