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Keywords Ganglion cells in Hirschsprung...

Ganglion cells in Hirschsprungs disease

https://read.qxmd.com/read/38493096/aberrant-sox10-and-ret-expressions-in-patients-with-hirschsprung-disease
#1
JOURNAL ARTICLE
Gunadi, Verrell Christopher Amadeus, Fadila Dyah Trie Utami, Fiqih Vidiantoro Halim, Nabilah Anisa Novebri, Rahaditya Alrasyidi Hanggoro, Avinindita Nura Lestari, Kristy Iskandar, Andi Dwihantoro, Eko Purnomo
BACKGROUND: HSCR is a complex genetic disorder characterized by the absence of ganglion cells in the intestine, leading to a functional obstruction. It is due to a disruption of complex signaling pathways within the gene regulatory network (GRN) during the development of the enteric nervous system (ENS), including SRY-Box Transcription Factor 10 (SOX10) and REarranged during Transfection (RET). This study evaluated the expressions of SOX10 and RET in HSCR patients in Indonesia. METHODS: Total RNA of 19 HSCR ganglionic and aganglionic colons and 16 control colons were analyzed using quantitative real-time polymerase chain reaction for SOX10 and RET with GAPDH as the reference gene...
March 16, 2024: BMC Pediatrics
https://read.qxmd.com/read/38481896/a-rare-case-report-on-postoperative-rehabilitation-in-hirschsprung-disease
#2
Shifa S Sheikh, H V Sharath, Nikita H Seth
Hirschsprung disease (HD) is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the hindgut. Here, we report a case of an eight-year-old male child who had abdominal distension with a history of repetitive gas passage and a complaint of stool passage. In February 2023, the patient was diagnosed with Hirshsprung disease, for which a left-side colostomy was done. In November 2023, he underwent Hirshsprung stage 2 repair. He was operated on the 17th of December 2023 under general anaesthesia colostomy mobilization...
February 2024: Curēus
https://read.qxmd.com/read/38352265/delayed-presentation-of-congenital-sigmoid-colon-stenosis-a-rare-entity
#3
Prajwal Dahal, Kapil Dawadi, Sabina Parajuli
Congenital sigmoid colon stenosis is a rare entity that can mimic Hirschsprung disease. Presentation of congenital colon stenosis is usually within first few weeks of life. Our case presented with features of distal bowel obstruction at 2 years of age with the history of chronic constipation and progressive abdominal distention from first week of life and bilious vomiting for the last 1 week. Clinical diagnosis of Hirschsprung disease was made. Contrast enhanced CT abdomen showed bowel obstruction with transition point at the level of proximal sigmoid colon...
January 2024: BJR Case Reports
https://read.qxmd.com/read/38321431/algorithm-assisted-diagnosis-of-hirschsprung-s-disease-evaluation-of-robustness-and-comparative-image-analysis-on-data-from-various-labs-and-slide-scanners
#4
JOURNAL ARTICLE
Ariel Greenberg, Benzion Samueli, Shai Farkash, Yaniv Zohar, Shahar Ish-Shalom, Rami R Hagege, Dov Hershkovitz
BACKGROUND: Differences in the preparation, staining and scanning of digital pathology slides create significant pre-analytic variability. Algorithm-assisted tools must be able to contend with this variability in order to be applicable in clinical practice. In a previous study, a decision support algorithm was developed to assist in the diagnosis of Hirschsprung's disease. In the current study, we tested the robustness of this algorithm while assessing for pre-analytic factors which may affect its performance...
February 6, 2024: Diagnostic Pathology
https://read.qxmd.com/read/38305240/clinicopathologic-evaluation-of-congenital-idiopathic-megaesophagus-in-a-gordon-setter-puppy-a-case-report-and-development-and-application-of-peripherin-immunohistochemistry-for-detection-of-ganglion-cells
#5
JOURNAL ARTICLE
Cecilie B Becker, Henrik E Jensen
We examined a case of congenital idiopathic megaesophagus (CIM) in a 5-wk-old female Gordon Setter puppy by means of contrast radiography, autopsy, histopathology, and immunohistochemistry. Clinical and radiologic findings included weight stagnation and marked generalized esophageal dilation with ventral displacement of the heart and lungs. These findings were confirmed at autopsy, and segments of the thoracic esophagus were sampled for histopathology. On histopathology, diffuse esophageal muscular atrophy, mucosal erosions, mononuclear inflammation, and a marked reduction in the number of myenteric plexus structures and number of ganglion cells were present (aganglionosis)...
February 2, 2024: Journal of Veterinary Diagnostic Investigation
https://read.qxmd.com/read/38196566/diagnostic-accuracy-of-barium-enema-versus-full-thickness-rectal-biopsy-in-children-with-clinically-suspected-hirschsprung-s-disease-a%C3%A2-comparative-cross-sectional-study
#6
JOURNAL ARTICLE
Tesfahunegn Hailemariam, Abenezer Kebede Bekele, Tsegahun Manyazewal, Daniel Zewdneh Solomon, Yocabel Gorfu, Zelalem Shiwarega, Tewodros Getinet, Meti Wole, Samrawit Solomon, Samuel Sisay Hailu
BACKGROUND AND AIMS: Hirschsprung's disease (HSD) remains a common cause of pediatric intestinal obstruction. Barium contrast enema (BE) is the primary imaging modality for the evaluation of clinically suspected cases. Here, we aimed to assess the diagnostic accuracy of BE in children with clinically suspected HSD when compared to a gold standard full-thickness rectal biopsy (FTRB). METHODS: We recruited and consecutively enrolled children with clinically suspected HSD at two tertiary teaching hospitals...
January 2024: Health Science Reports
https://read.qxmd.com/read/38193986/chronic-intestinal-pseudo-obstruction-due-to-adult-onset-acquired-isolated-hypoganglionosis-with-muscular-atrophy-in-the-small-intestine-a-case-report-and-review-of-literature
#7
JOURNAL ARTICLE
Sayoko Tayama, Yoki Furuta, Miyuki Morito, Hideaki Naoe, Daiki Yoshii, Yasuyuki Uchida, Koichiro Yoshimaru, Yuji Miyamoto, Tomoaki Taguchi, Yasuhito Tanaka
BACKGROUND: Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal disorder characterized by impaired propulsion of the digestive tract and associated with symptoms of intestinal obstruction, despite the absence of obstructive lesions. CIPO includes several diseases. However, definitive diagnosis of its etiology is difficult only with symptoms or imaging findings. CASE PRESENTATION: A 56-year-old man was referred to our hospital due to a 3-year history of continuous abdominal distention...
January 9, 2024: Clinical Journal of Gastroenterology
https://read.qxmd.com/read/38019366/enhancing-diagnosis-of-hirschsprung-s-disease-using-deep-learning-from-histological-sections-of-post-pull-through-specimens-preliminary-results
#8
JOURNAL ARTICLE
Miriam Duci, Alessia Magoni, Luisa Santoro, Angelo Paolo Dei Tos, Piergiorgio Gamba, Francesca Uccheddu, Francesco Fascetti-Leon
PURPOSE: Accurate histological diagnosis in Hirschsprung disease (HD) is challenging, due to its complexity and potential for errors. In this study, we present an artificial intelligence (AI)-based method designed to identify ganglionic cells and hypertrophic nerves in HD histology. METHODS: Formalin-fixed samples were used and an expert pathologist and a surgeon annotated these slides on a web-based platform, identifying ganglionic cells and nerves. Images were partitioned into square sections, augmented through data manipulation techniques and used to develop two distinct U-net models: one for detecting ganglionic cells and normal nerves; the other to recognise hypertrophic nerves...
November 29, 2023: Pediatric Surgery International
https://read.qxmd.com/read/37982909/the-impact-of-the-recipient-intestinal-site-on-the-differentiation-of-transplanted-enteric-neural-crest-cells
#9
JOURNAL ARTICLE
Nana Nakazawa-Tanaka, Naho Fujiwara, Katsumi Miyahara, Chihiro Akazawa, Masahiko Urao, Atsuyuki Yamataka
PURPOSE: It has long been established that the failure of enteric neural crest cells (ENCCs) to colonize the entire gut results in aganglionosis at the distal colon in Hirschsprung disease (HD). However, it is still unclear how the intestinal microenvironment of the distal aganglionic gut differs from that of the proximal ganglionic gut in HD versus normal gut. We have recently succeeded in transplanting ENCC into aganglionic gut in endothelin receptor B (Ednrb) knockout (KO) mice. to advance the development of cell therapy for HD, it is essential to determine if the transplanted ENCCs differentiate normally in aganglionic gut...
November 20, 2023: Pediatric Surgery International
https://read.qxmd.com/read/37973423/duhamel-versus-swenson-pull-through-for-total-colonic-aganglionosis-a-multi-institutional-study
#10
JOURNAL ARTICLE
Ihab Halaweish, Shruthi Srinivas, Zishaan Farooqui, Pattamon Sutthatarn, Drayson Campbell, Jason Frischer, Richard J Wood, Jacob C Langer
BACKGROUND: Total colonic aganglionosis (TCA) is a rare variant of Hirschsprung disease (HD) where the colon and portion of distal ileum lack ganglion cells. Most pediatric use either a straight ileoanal (Swenson or Yancey-Soave) or a short Duhamel pull-through for TCA. There are no large studies comparing these techniques. We aimed to compare short-and medium-term outcomes between these approaches. METHOD: A retrospective review was performed among children with TCA from 2001 to 2019 undergoing a primary Duhamel or Swenson pull-through across three large children's hospitals...
October 18, 2023: Journal of Pediatric Surgery
https://read.qxmd.com/read/37965402/post-surgical-outcomes-of-different-surgical-techniques-in-hirschsprung-s-disease-a-literature-review
#11
REVIEW
Pragathi Munnangi, Anam Sayed Mushir Ali, Sheryl Deva, Varsha Kushwaha, Shivangi Srivastava, Aishwarya Boini, Ritu S Agarwal, Prateek Kumar Dinkar, Esha Chaudhary
Hirschsprung's disease (HD) is a rare condition that affects newborns and is characterized by the lack of ganglion cells in the colon. Typical symptoms include difficulty passing stool, vomiting, and trouble feeding. Various surgical methods are available to manage the condition. The aim of the study is to investigate and compare the post-surgical outcomes of different surgical techniques used in the treatment of HD. A thorough literature search was conducted using various electronic databases to identify relevant studies to be referred to...
October 2023: Curēus
https://read.qxmd.com/read/37958648/essential-role-of-bmp4-signaling-in-the-avian-ceca-in-colorectal-enteric-nervous-system-development
#12
JOURNAL ARTICLE
Tamás Kovács, Viktória Halasy, Csongor Pethő, Emőke Szőcs, Ádám Soós, Dávid Dóra, Pascal de Santa Barbara, Sandrine Faure, Rhian Stavely, Allan M Goldstein, Nándor Nagy
The enteric nervous system (ENS) is principally derived from vagal neural crest cells that migrate caudally along the entire length of the gastrointestinal tract, giving rise to neurons and glial cells in two ganglionated plexuses. Incomplete migration of enteric neural crest-derived cells (ENCDC) leads to Hirschsprung disease, a congenital disorder characterized by the absence of enteric ganglia along variable lengths of the colorectum. Our previous work strongly supported the essential role of the avian ceca, present at the junction of the midgut and hindgut, in hindgut ENS development, since ablation of the cecal buds led to incomplete ENCDC colonization of the hindgut...
October 27, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37927710/a-rare-case-of-left-hemicolectomy-masking-the-signs-and-symptoms-of-underlying-hirschsprung-s-disease-in-an-adult
#13
Creighton Kellogg, Lori A Robbins
Hirschsprung's disease (HD) is a congenital gastrointestinal condition characterized by the lack of ganglion cells within the submucosal and myenteric nervous plexuses in the large intestine. This results in a dysfunctional segment of the large colon, resulting in symptoms such as failure to pass meconium, constipation, and dilated loops of the bowel. The vast majority of patients are diagnosed during the neonatal period, but a handful can be diagnosed later into childhood and adolescence. A rare subset is diagnosed during adulthood, in which the section of the aganglionic colon is minimal yet symptomatic...
October 2023: Curēus
https://read.qxmd.com/read/37865574/does-length-of-extended-resection-beyond-transition-zone-change-clinical-outcome-for-hirschsprung-pull-through
#14
JOURNAL ARTICLE
Sarah Ullrich, Naomi-Liza Denning, Monica Holder, Randi Wittenberg, Kevin Krebs, Ava Schwan, Abigail Verderber, Aaron P Garrison, Beth Rymeski, Nelson Rosen, Jason S Frischer
INTRODUCTION: A proximal resection margin greater than 5 cm from the intra-operative histologically determined transition zone has been deemed necessary to minimize the risk of transition zone pull-through. This extended resection may require the sacrifice of vascular supply and even further bowel resection. The impact of extended proximal resection margin on post-operative complications and functional outcomes is unclear. METHODS: A retrospective chart review of patients who underwent primary pull-through for Hirschsprung disease at a single institution between January 2008 and December 2022 was performed...
September 22, 2023: Journal of Pediatric Surgery
https://read.qxmd.com/read/37828049/hirschsprung-disease
#15
REVIEW
Louise Montalva, Lily S Cheng, Raj Kapur, Jacob C Langer, Dominique Berrebi, Kristiina Kyrklund, Mikko Pakarinen, Ivo de Blaauw, Arnaud Bonnard, Ankush Gosain
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia...
October 12, 2023: Nature Reviews. Disease Primers
https://read.qxmd.com/read/37761449/rectal-biopsy-for-hirschsprung-s-disease-a-multicentre-study-involving-biopsy-technique-pathology-and-complications
#16
JOURNAL ARTICLE
Gil Vervloet, Antoine De Backer, Stijn Heyman, Paul Leyman, Sebastiaan Van Cauwenberge, Kim Vanderlinden, Charlotte Vercauteren, Dirk Vervloessem, Marc Miserez
BACKGROUND: The heterogeneity of rectal biopsy techniques has encouraged us to search for a surgical and pathological standardisation of this diagnostic technique to exclude Hirschsprung's disease. The different amounts of information on the anatomopathology report prompted us to compile a template for the anatomopathology report for diagnostic rectal biopsies for surgical colleagues and pathologists working on Hirschsprung's disease. METHODS: We gathered the anonymous biopsy information and its pathology information from five hospitals for all patients in which rectal biopsies were taken to diagnose Hirschsprung's disease over two years (2020-2021)...
August 31, 2023: Children
https://read.qxmd.com/read/37427059/diagnostic-challenges-of-hypoganglionosis-based-on-immunohistochemical-method
#17
JOURNAL ARTICLE
Fatima Safira Alatas, Kouji Masumoto, Kouji Nagata, Antonius Hocky Pudjiadi, Muzal Kadim, Tomoaki Taguchi, Tatsuro Tajiri
BACKGROUND: Hypoganglionosis resembles Hirschsprung's disease as in both diseases, patients may present with severe constipation or pseudo-obstruction. To date, diagnosis of hypoganglionosis is still difficult to be established due to lack of international consensus regarding diagnostic criteria. This study aims to evaluate the use of immunohistochemistry to provide objective support for our initial subjective impression of hypoganglionosis as well as to describe the morphological features of this study...
June 30, 2023: Translational Pediatrics
https://read.qxmd.com/read/37403154/adult-hirschsprung-s-disease-presenting-as-chronic-constipation-a-case-report
#18
JOURNAL ARTICLE
Theresia Monica Rahardjo, Yeppy Arief Nurzaman, Janice Natalia, Indra Hapdijaya, Livia Devina, Hendrik Andrianto, Jeffrey Christian Mahardhika
BACKGROUND: Hirschsprung's disease is a congenital disorder identified by the absence of ganglion cells at the Meissner's plexus of the submucosa and Auerbach's plexus of the muscularis. This disease can be found in approximately 1 in 5000 live births. It is a congenital disorder that is rarely diagnosed in adults, where 95% of cases are diagnosed in infants aged under 1 year old. Here we present a rare case of adult Hirschsprung's disease to enrich the body of knowledge  in diagnosing adult patients with chronic refractory constipation symptoms...
July 5, 2023: Journal of Medical Case Reports
https://read.qxmd.com/read/37384399/expression-of-cad-and-sox2-in-postoperative-intestinal-tissues-of-children-with-hirschsprung-s-disease-and-their-interrelationship
#19
JOURNAL ARTICLE
Zheng Zhao, Hongwei Xi
OBJECTIVE: To investigate the expression and significance of intestinal Cathepsin D (CAD) and sex-determining region Y-frame protein 2 (SOX2) in children with Hirschsprung's disease (HD) after surgery. METHODS: Immunohistochemistry and Western blot techniques were employed to examine the expression of CAD and SOX2 in colonic tissues obtained from 56 children with HD (HD group) and 23 colonic tissues obtained from fistulas for intestinal obstruction or perforation (control group)...
June 30, 2023: Alternative Therapies in Health and Medicine
https://read.qxmd.com/read/37342453/hirschsprung-s-disease-associated-enterocolitis-a-comprehensive-review
#20
REVIEW
Eric M Gershon, Leonel Rodriguez, Ricardo A Arbizu
Hirschsprung's disease (HSCR) is a congenital disorder characterized by failure of the neural crest cells to migrate and populate the distal bowel during gestation affecting different lengths of intestine leading to a distal functional obstruction. Surgical treatment is needed to correct HSCR once the diagnosis is confirmed by demonstrating the absence of ganglion cells or aganglionosis of the affected bowel segment. Hirschsprung's disease associated enterocolitis (HAEC) is an inflammatory complication associated with HSCR that can present either in the pre- or postoperative period and associated with increased morbidity and mortality...
June 9, 2023: World Journal of Clinical Pediatrics
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