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Hirschsprung's

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https://www.readbyqxmd.com/read/28727975/appendicular-biopsy-in-total-colonic-aganglionosis-a-histologically-challenging-and-inadvisable-practice
#1
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/28709660/effect-of-gastrointestinal-malformations-on-the-outcomes-of-patients-with-congenital-heart-disease
#2
Carlos M Mery, Luis E De León, J Rubén Rodriguez, R Michael Nieto, Wei Zhang, Iki Adachi, Jeffrey S Heinle, Lauren C Kane, E Dean McKenzie, Charles D Fraser
BACKGROUND: The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. METHODS: Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group...
July 11, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28706618/isolated-ileal-perforation-in-infancy-a-lethal-initial-presentation-of-hirschsprung-s-disease
#3
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
#4
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/28689885/reduction-of-hydrogen-sulfide-synthesis-enzymes-cystathionine-%C3%AE-synthase-and-cystathionine-%C3%AE-lyase-in-the-colon-of-patients-with-hirschsprungs-s-disease
#5
Christian Tomuschat, Anne Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: Hirschsprung's associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in Hirschsprung's 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...
June 23, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28687876/chromosome-21-encoded-micrornas-mrnas-impact-on-down-s-syndrome-and-trisomy-21-linked-disease
#6
P N Alexandrov, M E Percy, Walter J Lukiw
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and socioeconomic costs, and there are as yet no effective treatments for this incapacitating human neurogenetic disorder. There is a remarkably wide variability in the 'phenotypic spectrum' associated with DS; the progression of symptoms and the age of DS onset fluctuate, and there is further variability in the biophysical nature of the chr21 duplication...
July 7, 2017: Cellular and Molecular Neurobiology
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
#7
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/28674948/transitional-health-care-for-patients-with-hirschsprung-disease-and-anorectal-malformations
#8
M J Witvliet, N Petersen, E Ekkerman, C Sleeboom, E van Heurn, A F W van der Steeg
BACKGROUND: Hirschsprung disease (HD) and anorectal malformations (ARM) are congenital disorders with potentially lifelong consequences. Although follow-up is performed in most pediatric patients, transfer to adult health care is often problematic. This study assesses transitional care with the help of questionnaires in consultation with adult patients. METHODS: This study was conducted in an outpatient clinic of a pediatric surgical center in the Netherlands. All patients born and treated for ARM or HD before 1992 were invited to visit our clinic...
July 3, 2017: Techniques in Coloproctology
https://www.readbyqxmd.com/read/28664405/potential-association-between-itpkc-genetic-variations-and-hirschsprung-disease
#9
Jeong-Hyun Kim, Soo-Min Jung, Joong-Gon Shin, Hyun Sub Cheong, Jeong-Meen Seo, Dae-Yeon Kim, Jung-Tak Oh, Hyun-Young Kim, Kyuwhan Jung, Hyoung Doo Shin
Hirschsprung disease (HSCR) is a congenital and complex disorder characterized by intestinal obstruction due to the absence of enteric neurons along variable lengths of the hindgut. Our recent genome-wide association study (GWAS) has revealed regional associations with HSCR at several loci of inositol-trisphosphate 3-kinase C (ITPKC). For fine mapping, we additionally selected and genotyped a total of 12 single nucleotide polymorphisms (SNPs) of ITPKC in 187 HSCR patients and 283 unaffected controls, and performed a further combined imputation analysis based on genotype data from this second stage of fine mapping and our previous GWAS stage, totaling 902 subjects (187 HSCR cases and 715 controls)...
July 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28660833/novel-technique-of-mapping-biopsies-during-laparoscopic-assisted-transanal-soave-endorectal-pull-through-surgery-for-hirschsprung-s-disease-s
#10
A D Ram, D W Scholfield, A Pimpalwar
No abstract text is available yet for this article.
July 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28657908/idiopathic-megacolon-report-of-2-deaths-with-review-of-the-literature
#11
Leigh Hlavaty, LokMan Sung
Abnormal dilation of the colon and rectum can develop from a range of disease processes. When encountered at autopsy, its contribution to death requires assessment and a thorough investigation of its origins. Elimination of known causes elicits a diagnosis of idiopathic megacolon. This entity is uncommonly encountered and presents with similar gross anatomic findings as Hirschsprung disease. Although death is infrequent, it most commonly results from disruption of the bowel wall and subsequent peritonitis. The authors report 2 rare deaths from idiopathic megacolon with retained integrity of the bowel wall...
June 27, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28656720/down-regulation-of-fibronectin-and-the-correlated-expression-of-neuroligin-in-hirschsprung-disease
#12
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...
June 28, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28649946/choline-transporter-immunohistochemistry-an-effective-substitute-for-acetylcholinesterase-histochemistry-to-diagnose-hirschsprung-disease-with-formalin-fixed-paraffin-embedded-rectal-biopsies
#13
Raj P Kapur, Philipp W Raess, Samuel Hwang, Conrad Winter
Acetylcholinesterase enzymatic histochemistry (AChE EHC), which highlights abnormal cholinergic nerves in the mucosa of aganglionic bowel, has been used for decades to evaluate rectal biopsies for Hirschsprung disease (HSCR). While useful diagnostically, AChE EHC is not compatible with conventional formalin-fixed and paraffin-embedded (FFPE) tissues and is not widely available. The choline transporter (ChT) is a putative alternative marker of cholinergic nerves. ChT immunohistochemistry (IHC) was investigated using FFPE biopsies and resections from patients with confirmed HSCR, as well as appropriate non-HSCR controls...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28646130/congenital-chloride-diarrhea-ccd-a-case-report-of-ccd-suspected-by-prenatal-ultrasonography-and-magnetic-resonance-imaging-mri
#14
Takakazu Kawamura, Tomizou Nishiguchi
BACKGROUND Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder that is difficult to distinguish from fetal lower intestinal obstruction. A prenatal diagnosis will make a contribution to the prognosis of the newborn. CASE REPORT We report a rare case of congenital chloride diarrhea (CCD) prenatally suspected by ultrasound and MRI. The prenatal ultrasound revealed signs of intestinal dilatation suggesting lower intestinal obstruction. MRI findings also revealed intestinal dilatation that continued from the rectum...
June 24, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28633714/three-generation-family-with-congenital-central-hypoventilation-syndrome-and-novel-phox2b-gene-non-polyalanine-repeat-mutation
#15
Ajay S Kasi, Taryn J Jurgensen, Stephanie Yen, Sheila S Kun, Thomas G Keens, Iris A Perez
PHOX2B non-polyalanine repeat mutation (NPARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally considered to be associated with full-time ventilator dependence and severe autonomic nervous system dysfunction. We report a three-generation family with four individuals possessing a novel PHOX2B NPARM (c.245C > T) with variable phenotypes. This mutation was inherited in an autosomal dominant pattern with variable penetrance. The affected family members with CCHS have a milder phenotype than is typically expected with a NPARM...
July 15, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28633635/maternal-use-of-selective-serotonin-reuptake-inhibitors-during-pregnancy-is-associated-with-hirschsprung-s-disease-in-newborns-a-nationwide-cohort-study
#16
Sebastian Werngreen Nielsen, Perniller Møller Ljungdalh, Jan Nielsen, Bente Mertz Nørgård, Niels Qvist
BACKGROUND: Hirschsprung's disease is a rare condition caused by congenital malformation of the gastrointestinal tract affecting 1:5000 children. Not much is known about risk factors for development of Hirschsprung's disease. Two clinical cases of hirschsprung's disease led to an investigation of the association between maternal use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy and development of Hirschsprung's Disease in the newborn child. The study examined a nationwide, unselected cohort of children born in Denmark from 1 January 1996 until 12 March 2016 (n = 1,256,317)...
June 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28629350/the-utility-of-the-hematoxylin-and-eosin-staining-in-patients-with-suspected-hirschsprung-disease
#17
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/28616722/duhamel-operation-for-children-with-distal-colonic-dysmotility
#18
Yew-Wei Tan, Osvaldo Borrelli, Keith Lindley, Nikhil Thapar, Joe Curry
PURPOSE: To report outcomes of children with constipation refractory to medical management and manometrically proven distal colonic dysmotility, managed with rectosigmoidectomy followed by Duhamel operation (Duhamel). METHODS: Children who underwent a Duhamel from 2009 onwards for intractable constipation and left colonic dysmotility were retrospectively reviewed. The primary end point was resolution of constipation, and secondary end point was postoperative complications...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28601901/hirschsprung-s-disease-in-twins-a-systematic-review-and-meta-analysis
#19
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/28601899/sensory-innervation-of-the-anal-canal-and-anorectal-line-in-hirschsprung-s-disease-histological-evidence-from-mouse-models
#20
Masahiro Takeda, Katsumi Miyahara, Chihiro Akazawa, Geoffrey J Lane, Atsuyuki Yamataka
AIM: We used non-Hirschsprung's disease (HD) Sox10-Venus Transgenic mice (non-HDSV-mice), an endothelin receptor-B knockout mouse model of HD (HD-mice), and C57B6C3 wild controls (C-mice) to identify the correlation between the anorectal line (ARL) and successful transanal pull-through (TAPT). METHODS: In non-HDSV-mice, intestinal neural crest-derived cells can be visualized with Venus,-a green fluorescent protein-without histochemical staining. We exposed the anal canal in each non-HDSV-mouse and marked the ARL directly with red ink...
August 2017: Pediatric Surgery International
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