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Hirschsprung's disease

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https://www.readbyqxmd.com/read/28649946/choline-transporter-immunohistochemistry
#1
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...
January 1, 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
#2
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-syndromeand-novel-phox2b-gene-non-polyalanine-repeat-mutation
#3
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 beassociated with full-time ventilator dependence and severe autonomic nervous system dysfunction. We report a three-generation family with four individualspossessing a novel PHOX2B NPARM (c.245C > T) with variable phenotypes. This mutation was inherited in an autosomal dominant pattern with variablepenetrance. The affected family members with CCHS have a milder phenotype than is typically expected with a NPARM...
June 16, 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
#4
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
#5
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
#6
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...
June 14, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28601901/hirschsprung-s-disease-in-twins-a-systematic-review-and-meta-analysis
#7
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"...
June 10, 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
#8
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...
June 10, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28600660/hirschsprung-disease-current-diagnosis-and-management
#9
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.
June 10, 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
#10
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...
June 9, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28586260/laparoscopic-ventral-rectopexy-versus-laparoscopic-wells-rectopexy-for-complete-rectal-prolapse-long-term-results
#11
Khaled M Madbouly, Mohamed Youssef
BACKGROUND: There is no agreement about which laparoscopic rectopexy technique is best for treating complete rectal prolapse. Purpose was to compare functional outcome, the recurrence rate, and quality of life in patients treated with laparoscopic ventral rectopexy (LVR) versus the laparoscopic Wells rectopexy (LWR) for complete rectal prolapse. MATERIALS AND METHODS: A retrospective review of a prospectively maintained database of consecutive patients who presented with complete rectal prolapse...
June 6, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/28585787/-home-training-as-a-treatment-of-faecal-incontinence-and-sphincter-dyssynergia
#12
G V Vivas Colmenares, M J Moya Jiménez, S Roldán Pérez, R Granero Cendón, J Vinuesa Salgueiro, M López Alonso
OBJECTIVE: The defecation disorders represents the 3% of consultations in pediatrics patients. Our goal was to demonstrate the effectiveness and efficiency of the reeducation of the defecation maneuver through home training in patients with encopresis and sphincter dyssynergia. MATERIAL AND METHODS: Study of patients with fecal incontinence treated with home training at our center between 2014-2015. Anorectal manometry was performed and was valued defecation maneuver by expulsion of rectal probe with or without the ball...
January 25, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28582312/development-of-nerve-fibre-diameter-in-young-infants-with-hirschsprung-disease
#13
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/28580775/persistent-distention-of-colon-damages-interstitial-cells-of-cajal-through-ca-2-erk-ap-1-mir-34c-scf-deregulation
#14
Shu Yang, Fang Dong, Dandan Li, Haimei Sun, Bo Wu, Tingyi Sun, Yaxi Wang, Ping Shen, Fengqing Ji, Deshan Zhou
Gastrointestinal motility disorders (GMDs) are attributed to loss of interstitial cells of Cajal (ICC), whose survival and function are deeply dependent on the activation of KIT/SCF signalling. Based on the facts that gastrointestinal distention is common in GMD patients and SCF produced by smooth muscle cells (SMCs) is usually decreased before ICC loss, we considered a possible contribution of persistent gastrointestinal distention/stretch to SCF deficiency. In this study, chronic colonic distention mouse model, diabetic gastrointestinal paresis mouse model, cultured mouse colonic SMCs and colon specimens from Hirschsprung's disease patients were used...
June 4, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28562483/investigation-of-the-expression-of-apoptosis-inducing-factor-mediated-apoptosis-in-hirschsprung-s-disease
#15
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/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#16
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28543993/genetic-background-of-hirschsprung-disease-a-bridge-between-basic-science-and-clinical-application
#17
Afsane Bahrami, Marjan Joodi, Mehrdad 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...
May 19, 2017: Journal of Cellular Biochemistry
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
#18
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/28528713/sociodemographics-and-the-impact-of-a-colostomy-to-indigent-families-and-children-with-colorectal-disorders-in-honduras
#19
W Krois, A J M Dingemans, P X Hernández, M L Metzelder, J Craniotis Rios, C A Reck-Burneo
INTRODUCTION: To describe the social impact of a colostomy on indigent families and affected children with anorectal malformations (ARM) or Hirschsprung's disease (HD) in San Pedro Sula, Honduras, we specifically targeted very low-income households that attended an international medical brigade for ARM and HD in 2016. METHODS: The impact of a colostomy on the families and children's daily life was analyzed by personal interviews with a questionnaire. RESULTS: Twenty families with children were included in the study...
May 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28508695/ganglion-cells-are-frequently-present-in-pediatric-mucosal-colorectal-biopsies
#20
Alexandra E Kovach, M Cristina Pacheco
Hirschsprung disease (HD) rarely presents as chronic constipation after the newborn period. At our institution, calretinin immunohistochemistry (CAL) is frequently requested by clinicians on rectal mucosal biopsies (RMBs) taken during colonoscopy in older children in whom suspicion for HD is low. We hypothesized that review of these biopsies would frequently reveal ganglion cells (GCs). We reviewed features of mucosal biopsies (November 2013 to September 2015) from children ≥1 year of age on which clinicians had requested CAL on at least one specimen...
January 1, 2017: Pediatric and Developmental Pathology
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