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Keywords Ganglion cells in Hirschsprung...

Ganglion cells in Hirschsprungs disease

https://read.qxmd.com/read/37257402/histopathology-of-ganglion-cells-in-the-proximal-resected-bowel-correlates-with-the-clinical-outcome-in-hirschsprung-disease-a-pilot-study
#21
JOURNAL ARTICLE
Minzhong Zhang, Wenbin Guan, Yin Zhou, Jun Wang, Yeming Wu, Weihua Pan
INTRODUCTION: Intraoperative leveling biopsy by identifying ganglion cells is crucial to determine surgical margin during surgery for Hirschsprung disease (HSCR). The anastomosis should be performed at least 5 cm proximal to the ganglionic segment to prevent transition zone pull-through. However, the length of the transition zone could be much longer than expected and the histological evaluation of the entire circumference of the proximal margin is recommended, which is time-consuming and not applicable for leveling biopsy...
May 29, 2023: Journal of Surgical Research
https://read.qxmd.com/read/37235583/serum-metabolomic-signatures-of-hirschsprung-s-disease-based-on-gc-ms-and-lc-ms
#22
JOURNAL ARTICLE
Shaobo Yang, Hong Yang, Yanlei Huang, Gong Chen, Chun Shen, Shan Zheng
Hirschsprung's disease (HSCR) is a congenital digestive tract malformation characterized by the absence of intramural ganglion cells in the myenteric and submucosal plexuses along variable lengths of the gastrointestinal tract. Although the improvement of surgical methods has allowed great progress in the treatment of HSCR, its incidence and postoperative prognosis are still not ideal. The pathogenesis of HSCR remains unclear to date. In this study, metabolomic profiling of HSCR serum samples was performed by an integrated analysis of gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-high-resolution tandem mass spectrometry (LC-HRMS/MS) as well as multivariate statistical analyses...
May 26, 2023: Journal of Proteome Research
https://read.qxmd.com/read/37075514/a-new-systematization-of-histological-analysis-for-the-diagnosis-of-hirschsprung-s-disease
#23
JOURNAL ARTICLE
Suellen Serafini, Maria Mercês Santos, Ana Cristina Aoun Tannuri, Celso Di Loreto, Josiane de Oliveira Gonçalves, Uenis Tannuri
BACKGROUND: Hirschsprung's Disease (HD) is characterized by intestinal sub-occlusion and the absence of enteric ganglion cells. A rectal biopsy examination is performed to confirm the diagnosis. In a recent study, we demonstrated that the analysis of 60 sections of rectal mucosa and submucosa stained by H&E may ensure a 90% diagnostic accuracy. Although the need to analyze so many sections makes the process of reading the slides more time-consuming, this encouraged us to study their distribution in the healthy rectal submucosa, to simplify the diagnosis...
April 17, 2023: Clinics
https://read.qxmd.com/read/37039233/cxcr4-cxcl12-signaling-regulates-development-of-extrinsic-innervation-to-the-colorectum
#24
JOURNAL ARTICLE
Viktória Halasy, Emőke Szőcs, Ádám Soós, Tamás Kovács, Pecsenye-Fejszák Nóra, Ryo Hotta, Allan M Goldstein, Nándor Nagy
The gastrointestinal tract is innervated by an intrinsic neuronal network, known as the enteric nervous system (ENS), and by extrinsic axons arising from peripheral ganglia. The nerve of Remak (NoR) is an avian-specific sacral neural crest-derived ganglionated structure that extends from the cloaca to the proximal midgut and, similar to the pelvic plexus, provides extrinsic innervation to the distal intestine. The molecular mechanisms controlling extrinsic nerve fiber growth into the gut is unknown. In vertebrates, CXCR4, a cell surface receptor for the CXCL12 chemokine, regulates migration of neural crest cells and axon pathfinding...
April 11, 2023: Development
https://read.qxmd.com/read/36922279/a-pilot-study-transcriptional-profiling-functional-analysis-and-organoid-modeling-of-intestinal-mucosa-in-hirschsprung-disease
#25
JOURNAL ARTICLE
Dimitra M Lotakis, Rishu Dheer, Michael K Dame, Ashley J Cuttitta, Dominic J Tigani, Jason R Spence, Vincent B Young, Matthew W Ralls
BACKGROUND: Hirschsprung disease (HSCR) is a congenital colonic aganglionosis. Many HSCR patients develop enterocolitis despite surgical resection. The pathophysiology of this inflammatory process is poorly understood. We compared transcriptional profiles and function of ganglionic and aganglionic tissue in HSCR patients. METHODS: RNA sequencing was performed on mucosal tissues from HSCR patients (n = 6) and controls (n = 3). Function of matched ganglionic and aganglionic regions were investigated utilizing organoids generated from these tissues...
February 18, 2023: Journal of Pediatric Surgery
https://read.qxmd.com/read/36788844/a-case-report-of-hirschsprung-s-disease-in-a-neonate-early-detection-and-review-of-management
#26
Fatimah Rajabally, Rama Alkhaldi, Helen Huang, Mohammad Said, Farah Elnakoury, Chaithanya Avanthika, Fouad Abdool
Hirschsprung's disease is a rare disease characterized by the complete absence of ganglionic cells in the colon, thereby causing loss of peristalsis movement of the bowel. Most cases are diagnosed before the age of one. Here, we present a case of a newborn baby boy who was not feeding well and then developed a distended abdomen and began bilious vomiting. Blood mucoid stools were also observed. The diagnosis of Hirschsprung's disease was confirmed through a full-thickness rectal biopsy, and the Duhamel surgical procedure was performed as a course of treatment all within the first few days of birth...
January 2023: Curēus
https://read.qxmd.com/read/36788160/a-case-of-hirschsprung-s-disease-with-segmental-dilatation-of-the-colon
#27
JOURNAL ARTICLE
Hideyuki Yokokawa, Mariko Yoshida, Shinya Takazawa, Mai Kutsukake, Kanako Omata, Shoko Ogawa, Jun Fujishiro
BACKGROUND: Segmental dilatation of the colon (SDC) is a rare disease that is characterized by an abrupt segment of dilated colon between regions of normal-sized colon. We herein report a case of SDC associated with Hirschsprung's disease (HD). CASE PRESENTATION: The patient developed abdominal distension soon after birth, and enema examination showed localized intestinal dilatation from the descending colon to the sigmoid colon with significant caliber changes on both the oral and anal sides of the dilated colon...
February 15, 2023: Surgical Case Reports
https://read.qxmd.com/read/36606638/the-transition-zone-in-hirschsprung-s-bowel-contains-abnormal-hybrid-ganglia-with-characteristics-of-extrinsic-nerves
#28
JOURNAL ARTICLE
Megan Smith, Sumita Chhabra, Rajeev Shukla, Simon Kenny, Sarah Almond, David Edgar, Bettina Wilm
The aganglionic bowel in short-segment Hirschsprung's disease is characterized both by the absence of enteric ganglia and the presence of extrinsic thickened nerve bundles (TNBs). The relationship between the TNBs and the loss of enteric ganglia is unknown. Previous studies have described decreasing numbers of ganglia with increasing density of TNBs within the transition zone (TZ) between ganglionic and aganglionic gut, and there is some evidence of spatial contact between them in this region. To determine the cellular interactions involved, we have analysed the expression of perineurial markers of TNBs and enteric ganglionic markers for both neural cells and their ensheathing telocytes across four cranio-caudal segments consisting of most proximal ganglionic to most distal aganglionic from pull-through resected colon...
January 2023: Journal of Cellular and Molecular Medicine
https://read.qxmd.com/read/36586783/exome-sequencing-identifies-novel-genes-and-variants-in-patients-with-hirschsprung-disease
#29
JOURNAL ARTICLE
Gunadi, Alvin Santoso Kalim, Kristy Iskandar, Marcellus, Dyah Ayu Puspitarani, Rizki Diposarosa, Akhmad Makhmudi, Galuh Dyah Nur Astuti
BACKGROUND: Hirschsprung disease (HSCR) is a complex genetic disease characterized by the absence of ganglion cells in the intestines, leading to a functional obstruction in infants. At least 24 genes have been identified for the pathogenesis of HSCR. They contributed to approximately 72% of HSCR cases. We aimed to elucidate further the genetic basis of HSCR in Indonesia using the whole-exome sequencing (WES) approach. METHODS: WES was performed in 39 sporadic non-syndromic HSCR patients and 16 non-HSCR subjects as controls...
November 25, 2022: Journal of Pediatric Surgery
https://read.qxmd.com/read/36565211/hirschsprung-disease-for-the-practicing-surgical-pathologist
#30
REVIEW
Karen Matsukuma, Dorina Gui, Payam Saadai
OBJECTIVES: Hirschsprung disease (HD) is a congenital condition defined by the absence of ganglion cells in the distal-most portion of the gastrointestinal tract. Biopsies and resections for HD can be adrenaline inducing for the general surgical pathologist because specimens are infrequent; HD is 1 of only a few neuroanatomic diseases that general surgical pathologists diagnose; numerous preanalytic factors (eg, biopsy adequacy, surgeon sampling protocol, processing artifacts) can affect histologic interpretation; and most importantly, the diagnosis has high stakes...
March 13, 2023: American Journal of Clinical Pathology
https://read.qxmd.com/read/36457257/reoperation-for-hirschsprung-disease-two-cases-of-vanishing-ganglion-cells-and-review-of-the-literature
#31
JOURNAL ARTICLE
Jasmine M Vickery, Bahig M Shehata, Eric P Chang, Aliya N Husain
Hirschsprung disease (HD) is characterized by circumferential aganglionosis of the rectum with variable proximal bowel involvement. The underlying pathogenesis is due to failure of caudal migration of neural crest cells during pre-natal development, causing functional bowel obstruction. Definitive therapy is surgical resection; however, a subset of patients will require reoperation. An important cause of reoperation is the rare but distinct entity described as the ganglion cell "vanishing" phenomenon. In this phenomenon, affected patients have normal circumferential ganglion cells present at the proximal margin during primary resection...
December 1, 2022: Pediatric and Developmental Pathology
https://read.qxmd.com/read/36419794/plasma-single-stranded-dna-autoantibodies-in-the-diagnosis-of-hirschsprung-s-disease
#32
JOURNAL ARTICLE
Bingtong Wang, Yongxuan Yao, Wenlin Fang, Yanqing Liu, Wei Zhong, Ye He, Yulu Lai, Qiuming He, Yun Zhu, Chaoting Lan
BACKGROUND: Hirschsprung's disease (HSCR) is a neonatal enteric nervous system (ENS) disease characterized by congenital enteric ganglion cell loss. The only treatment is aganglionic bowel segment resection and innervated bowel segment reconstruction. Delayed diagnosis and treatment cause postoperative complications such as intractable constipation and enterocolitis. Existing preoperative HSCR diagnostic methods have shortcomings such as false positives, radiation and invasiveness. METHODS: We used the robust linear model (RLM) for normalization and the M statistic for screening plasma human autoimmune antigen microarrays and quantitatively assessed single-stranded DNA (ssDNA) antibody levels with enzyme-linked immunosorbent assay (ELISA)...
2022: Frontiers in Medicine
https://read.qxmd.com/read/36408569/calretinin-staining-in-anorectal-line-biopsies-accurately-distinguished-hirschsprung-disease-in-a-retrospective-study
#33
JOURNAL ARTICLE
Suzanna J Logan, Hong Yin, Beverly Rogers, Nicoleta Arva, Miriam R Conces, Sandy Cope-Yokoyama, Louis P Dehner, Carlos Galliani, Shipra Garg, Mai He, Aliya N Husain, Matthew Keisling, Chandra Krishnan, Elena Puscasiu, Christopher Rossi, Faiza Siddiqui, Lisa Sutton, Jefferson Terry, Ameet I Thaker, Yuan Huang, Jie Zhang, Courtney McCracken, Heather Rytting
INTRODUCTION: The absence of submucosal ganglion cells does not reliably distinguish Hirschsprung disease from non Hirschsprung disease in anorectal line biopsies. Calretinin staining might be helpful in these biopsies. To determine its value, we analyzed calretinin positive mucosal neurites in anorectal line biopsies. METHODS: Two pediatric pathologists, without access to patient data, evaluated calretinin positive mucosal neurites in anorectal line junctional mucosa in archival rectal biopsies contributed by 17 institutions...
November 21, 2022: Pediatric and Developmental Pathology
https://read.qxmd.com/read/36401255/outcome-of-santulli-enterostomy-in-patients-with-immaturity-of-ganglia-single-institutional-experience-from-a-case-series
#34
JOURNAL ARTICLE
Zhixiong Lin, Mingkun Liu, Lei Yan, Lijuan Wu, Jianxi Bai, Dianming Wu, Yifan Fang, Yu Lin
BACKGROUND: Immaturity of ganglia (IG) is an extremely rare disease and always requires surgical intervention in the neonatal period, but without guidelines to choose the ideal enterostomy procedure, the timing of stoma closure remains controversial. The aim of this study was to report our experience using Santulli enterostomy for the treatment of nine infants diagnosed with IG. METHODS: Patients who underwent Santulli enterostomy and were diagnosed with IG in our center between 2016 and 2021 were retrospectively studied...
November 18, 2022: BMC Surgery
https://read.qxmd.com/read/36171348/rectal-suction-biopsy-versus-incisional-rectal-biopsy-in-the-diagnosis-of-hirschsprung-disease
#35
JOURNAL ARTICLE
Nicole Green, Caitlin A Smith, Miranda C Bradford, Lusine Ambartsumyan, Raj P Kapur
BACKGROUND: Hirschsprung disease is one of the most common congenital anomalies that affect colorectal function. Rectal biopsy demonstrating the absence of ganglion cells in the affected bowel is the gold standard for diagnosis. Suction and incisional rectal biopsies are appropriate methods for obtaining diagnostic tissue. The goal of this study is to determine if any differences in adequacy exist between suction and incisional rectal biopsies at our institution. METHODS: We conducted a retrospective review of suction and incisional rectal biopsies for inadequacy per procedure at a tertiary pediatric hospital...
December 2022: Pediatric Surgery International
https://read.qxmd.com/read/36142117/down-regulation-of-double-c2-domain-alpha-promotes-the-formation-of-hyperplastic-nerve-fibers-in-aganglionic-segments-of-hirschsprung-s-disease
#36
JOURNAL ARTICLE
Jun Xiao, Xinyao Meng, Ke Chen, Jing Wang, Luyao Wu, Yingjian Chen, Xiaosi Yu, Jiexiong Feng, Zhi Li
Hirschsprung's disease (HSCR) is a common developmental anomaly of the gastrointestinal tract in children. The most significant characteristics of aganglionic segments in HSCR are hyperplastic extrinsic nerve fibers and the absence of endogenous ganglion plexus. Double C2 domain alpha (DOC2A) is mainly located in the nucleus and is involved in Ca2+ -dependent neurotransmitter release. The loss function of DOC2A influences postsynaptic protein synthesis, dendrite morphology, postsynaptic receptor density and synaptic plasticity...
September 6, 2022: International Journal of Molecular Sciences
https://read.qxmd.com/read/36008996/a-novel-method-for-identifying-the-transition-zone-in-long-segment-hirschsprung-disease-investigating-the-muscle-unit-to-ganglion-ratio
#37
JOURNAL ARTICLE
Wendy Yang, Jenny Pham, Sebastian K King, Donald F Newgreen, Heather M Young, Lincon A Stamp, Marlene M Hao
Hirschsprung disease (HSCR) is characterised by the absence of enteric ganglia along variable lengths of the distal bowel. Current gold standard treatment involves the surgical resection of the defective, aganglionic bowel. Clear and reliable distinction of the normoganglionated bowel from the transition zone is key for successful resection of the entire defective bowel, and the avoidance of subsequent postoperative complications. However, the intraoperative nature of the tissue analysis and the variability of patient samples, sample preparation, and operator objectivity, make reproducible identification of the transition zone difficult...
August 10, 2022: Biomolecules
https://read.qxmd.com/read/35959491/-ednrb-mice-with-hirschsprung-disease-are-missing-gad2-expressing-enteric-neurons-in-the-ganglionated-small-intestine
#38
JOURNAL ARTICLE
Sukhada Bhave, Richard A Guyer, Nicole Picard, Meredith Omer, Ryo Hotta, Allan M Goldstein
Hirschsprung disease is most often characterized by aganglionosis limited to the distal colon and rectum, and mice lacking the Endothelin receptor type B (Ednrb) faithfully recapitulate this phenotype. However, despite the presence of enteric ganglia in the small intestine, both human patients and Ednrb-/- mice suffer from dysmotility and altered gastrointestinal function, thus raising the possibility of enteric nervous system (ENS) abnormalities proximal to the aganglionic region. We undertook the present study to determine whether abnormalities with the ENS in ganglionated regions may account for abnormal gastrointestinal function...
2022: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/35900499/isolated-intestinal-neuronal-dysplasia-type-b-of-ileum-a-rare-occurrence
#39
Ram Nawal Rao, Riti Yadav, Pratishtha Sengar
Intestinal neuronal dysplasia type B in the gastrointestinal tract is a rare occurrence and may occur alone or in combination with Hirschsprung disease. Distal colon seems to be a frequent site for isolated IND-B cases; however, small bowel involvement is scarcely reported. We report a case of 9 years old boy presenting with features of intestinal pseudo-obstruction for 5 years. Exploratory laparotomy revealed narrowed distal ileum with huge proximal dilatation. Histopathology of the resected terminal ileum revealed giant submucosal ganglion, hyperplastic submucosal nerves, and ectopic ganglion cells in the lamina propria suggestive of IND-B...
July 2022: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/35777734/associations-of-mucosal-nerve-fiber-innervation-density-with-hirschsprung-associated-enterocolitis-a-retrospective-three-center-cohort-study
#40
JOURNAL ARTICLE
Michele Moesch, Jakob Usemann, Elisabeth Bruder, Philipp Romero, Constantin Schwab, Beate Niesler, Maria Angeles Tapia-Laliena, Rasul Khasanov, Tauseef Nisar, Study Group Nig Retro, Stefan Holland-Cunz, Simone Keck
Hirschsprung disease (HSCR) is a congenital intestinal neurodevelopmental disorder characterized by the absence of enteric ganglion cells in the distal colon. Although Hirschsprung-associated enterocolitis (HAEC) is the most frequent life-threatening complication in HSCR, to date reliable biomarkers predicting the likelihood of HAEC are yet to be established. We established a three-center retrospective study including 104 HSCR patients surgically treated between 1998-2019. Patient-derived cryo- or paraffin-preserved colonic tissue at surgery was analyzed via beta III tubulin immunohistochemistry...
July 1, 2022: European Journal of Pediatric Surgery
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