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Hirschsprung's disease

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https://www.readbyqxmd.com/read/27903978/circular-rna-znf609-functions-as-a-competitive-endogenous-rna-to-regulate-akt3-expression-by-sponging-mir-150-5p-in-hirschsprung-s-disease
#1
Lei Peng, Guanglin Chen, Zhongxian Zhu, Ziyang Shen, Chunxia Du, Rujin Zang, Yang Su, Hua Xie, Hongxing Li, Xiaoqun Xu, Yankai Xia, Weibing Tang
Research over the past decade suggested critical roles for circular RNAs in the natural growth and disease progression. However, it remains poorly defined whether the circular RNAs participate in Hirschsprung disease (HSCR). Here, we reported that the cir-ZNF609 was down-regulated in HSCR compared with normal bowel tissues. Furthermore, suppression of cir-ZNF609 inhibited the proliferation and migration of cells. We screened out several putative cir-ZNF609 ceRNAs of which the AKT3 transcript was selected. Finally, RNA immunoprecipitation and luciferase reporter assays demonstrated that cir-ZNF609 may act as a sponge for miR-150-5p to modulate the expression of AKT3...
November 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27902697/a-novel-zebrafish-ret-heterozygous-model-of-hirschsprung-disease-identifies-a-functional-role-for-mapk10-as-a-modifier-of-enteric-nervous-system-phenotype-severity
#2
Tiffany A Heanue, Werend Boesmans, Donald M Bell, Koichi Kawakami, Pieter Vanden Berghe, Vassilis Pachnis
Hirschsprung disease (HSCR) is characterized by absence of enteric neurons from the distal colon and severe intestinal dysmotility. To understand the pathophysiology and genetics of HSCR we developed a unique zebrafish model that allows combined genetic, developmental and in vivo physiological studies. We show that ret mutant zebrafish exhibit cellular, physiological and genetic features of HSCR, including absence of intestinal neurons, reduced peristalsis, and varying phenotype expressivity in the heterozygous state...
November 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27898990/european-paediatric-surgeons-association-survey-on-the-management-of-hirschsprung-disease
#3
Augusto Zani, Simon Eaton, Francesco Morini, Prem Puri, Risto Rintala, Ernest van Heurn, Marija Lukac, Pietro Bagolan, Joachim F Kuebler, Florian Friedmacher, Rene Wijnen, Juan A Tovar, Michael E Hoellwarth, Agostino Pierro
: Aim This study aims to define patterns of Hirschsprung disease (HD) management. Methods An online questionnaire was sent to all European Paediatric Surgeons' Association (EUPSA) members. Results A total of 294 members (61 countries) answered (response rate: 61%). DIAGNOSIS: All respondents perform rectal biopsies (61% rectal suction [RSBs], 39% open full-thickness), 96% contrast enema, and 31% anorectal manometry. At RSB, 17% take the most distal biopsy 1 cm above the dentate line, 34% take 2 cm, 30% take 3 cm, and 19% take > 3 cm...
November 29, 2016: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27896157/congenital-neonatal-intestinal-obstruction-retrospective-analysis-at-tertiary-care-hospital
#4
Vijay Singh, Manish Pathak
BACKGROUND: The purpose of this study is to analyze the etiology, clinical presentation and outcome of neonatal intestinal obstruction at our institute. MATERIALS AND METHODS: The medical record of all the patients, presented with intestinal obstruction in neonatal period during 2014 and 2015 was reviewed retrospectively for etiology, clinical features, investigations, management, and outcome. RESULTS: Out of total 53 cases of neonatal intestinal obstruction, 27 were of intestinal atresia (9 cases (17%) were of duodenal atresia, 7 (13%) were of jejunal atresia and 8 (13%) were ileal atresias and 3 cases were found with colonic atresia); 7 were malrotation, 17 were Hirschsprung's disease (HD)...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896155/colonic-atresia-association-with-other-anomalies
#5
Khaled M El-Asmar, Mohammed Abdel-Latif, Abdel-Hamid A El-Kassaby, Mohamed H Soliman, Mosad M El-Behery
BACKGROUND: Colonic atresia (CA) is a rare form of congenital intestinal atresia. Although CA may be isolated, it is more commonly reported in literature in association with other congenital anomalies. MATERIALS AND METHODS: This study is a review of prospectively collected data of all the patients with colonic atresia presented to our center (Ain Shams University) during 2008 to 2016. RESULTS: Twelve patients were enrolled in this study. The atresia was of type I in one case, type II in four cases, type IIIa in six cases, type IV in one case...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896152/a-retrospective-cohort-study-of-total-colonic-aganglionosis-is-the-appendix-a-reliable-diagnostic-tool
#6
T O'Hare, M McDermott, M O'Sullivan, P Dicker, B Antao
BACKGROUND: Hirschsprung's disease (HD) is characterized by a lack of ganglion cells in the myenteric and submucosal plexus, associated with increased numbers of acetyl cholinesterase (AChE) positive nerve fibres. In approximately 10% of patients with HD the entire colon will be affected; a condition known as Total Colonic Aganglionosis (TCA). Aganglionosis of the appendix has long been considered to be an important finding in a patient in whom TCA is suspected, but its reliability for diagnosis has seldom been discussed...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27895411/reoperation-in-an-adult-female-with-right-sided-hirschsprung-s-disease-complicated-by-refractory-hypertension-and-cough
#7
Zhi-Jian Wei, Lei Huang, A-Man Xu
Hirschsprung's disease (HD) is an intestinal malformation caused by the innate absence of ganglion cells in the neural plexus of the colorectal wall, and is most common in male infants. It is rare in adult, and is usually left-sided. Herein we reported based on the CARE guidelines a case of a 47-year-old adult female suffering from "right-sided" HD complicated by refractory hypertension and cough. The patient with a history of cesarean section and with digestive unfitness (abdominal pain, distention, and constipation) only since 20 years old had recurrence of HD after initial surgery due to the incomplete removal of the HD-affected bowel based on a diagnosis of "chronic ileus", leading to the relapse of the digestive symptoms and the emergence of some intractable circulatory and respiratory complications which could be hardly controlled by conservative treatment...
November 7, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27890312/variables-associated-with-loss-of-ileoanal-pouches-constructed-in-childhood
#8
Khaled Abdelaal, Bruce Jaffray
AIMS: To quantify the incidence of loss of an ileoanal pouch in children and to identify variables associated this event. METHODS: Logistic regression of possible explanatory variables: age, sex, indication for procto-colectomy, pre-operative continence status, use of immunosuppressive drugs, open or laparoscopic surgery, number of stages, anastomotic leak, operative complication excluding anastomotic leak, performance of revisional surgery, albumin concentration and platelet count at time of surgery, rank order in series...
November 13, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27889765/contribution-of-common-variants-in-gabrg2-reln-and-nrg3-and-interaction-networks-to-the-risk-of-hirschsprung-disease
#9
Yang Wang, Jun Wang, Ying Zhou, Zhiyun Wei, Yongtao Xiao, Kejun Zhou, Jie Wen, Junkai Yan, Wei Cai
BACKGROUND: Hirschsprung disease (HSCR) is a complex and heterogeneous disorder, characterized by a deficit in enteric nervous system. Genome-wide studies implied GABRG2, RELN and NRG3 might be involved in HSCR etiology. Here, we aimed to assess genetic variants in GABRG2, RELN and NRG3 that may confer susceptibility to HSCR and explore genetic interaction networks in HSCR. METHODS: Using a strategy that combined case-control study and gene-gene interaction analysis with the MassArray system, we evaluated 24 polymorphisms within GABRG2, RELN and NRG3 in 104 HSCR cases and 151 normal controls of Han Chinese origin...
November 25, 2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27884342/optimizing-neurogenic-potential-of-enteric-neurospheres-for-treatment-of-neurointestinal-diseases
#10
Lily S Cheng, Hannah K Graham, Wei Hua Pan, Nandor Nagy, Alfonso Carreon-Rodriguez, Allan M Goldstein, Ryo Hotta
BACKGROUND: Enteric neurospheres derived from postnatal intestine represent a promising avenue for cell replacement therapy to treat Hirschsprung disease and other neurointestinal diseases. We describe a simple method to improve the neuronal yield of spontaneously formed gut-derived neurospheres. MATERIALS AND METHODS: Enteric neurospheres were formed from the small and large intestines of mouse and human subjects. Neurosphere size, neural crest cell content, cell migration, neuronal differentiation, and neuronal proliferation in culture were analyzed...
December 2016: Journal of Surgical Research
https://www.readbyqxmd.com/read/27869805/engineered-human-pluripotent-stem-cell-derived-intestinal-tissues-with-a-functional-enteric-nervous-system
#11
Michael J Workman, Maxime M Mahe, Stephen Trisno, Holly M Poling, Carey L Watson, Nambirajan Sundaram, Ching-Fang Chang, Jacqueline Schiesser, Philippe Aubert, Edouard G Stanley, Andrew G Elefanty, Yuichiro Miyaoka, Mohammad A Mandegar, Bruce R Conklin, Michel Neunlist, Samantha A Brugmann, Michael A Helmrath, James M Wells
The enteric nervous system (ENS) of the gastrointestinal tract controls many diverse functions, including motility and epithelial permeability. Perturbations in ENS development or function are common, yet there is no human model for studying ENS-intestinal biology and disease. We used a tissue-engineering approach with embryonic and induced pluripotent stem cells (PSCs) to generate human intestinal tissue containing a functional ENS. We recapitulated normal intestinal ENS development by combining human-PSC-derived neural crest cells (NCCs) and developing human intestinal organoids (HIOs)...
November 21, 2016: Nature Medicine
https://www.readbyqxmd.com/read/27863645/identification-of-a-de-novo-mutation-of-sox10-in-a-chinese-patient-with-waardenburg-syndrome-type-iv
#12
Fenghe Liang, Min Zhao, Lynn Fan, Hongyan Zhang, Yang Shi, Rui Han, Chunyan Qu
OBJECTIVES: Waardenburg syndrome is a rare genetic disorder, characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Four subtypes have been classified. The present study aimed to analyze the clinical feature and investigate the genetic cause for a Chinese case of Waardenburg type IV (WS4). METHODS: The patient and his family members were subjected to mutation detection in the candidate gene SOX10 by Sanger sequencing. RESULTS: The patient has the clinical features of WS4, including sensorineural hearing loss, bright blue irides, premature graying of the hair and Hirschsprung disease...
December 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27862957/clinical-and-molecular-diagnosis-of-a-cartilage-hair-hypoplasia-with-igf-1-deficiency
#13
Inma Castilla-Cortázar, Julieta Rodríguez De Ita, Irene Martín-Estal, Fabiola Castorena, Gabriel A Aguirre, Rocío García de la Garza, Martha I Elizondo
Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27860230/cover-image-volume-170a-number-12-december-2016
#14
Toshiki Takenouchi, Hiroshi Yoshihashi, Yuri Sakaguchi, Tomoko Uehara, Masataka Honda, Takao Takahashi, Kenjiro Kosaki, Sahoko Miyama
The cover image, by Toshiki Takenouchi et al., is based on the Clinical Report Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation, DOI: 10.1002/ajmg.a.37861.
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27858582/long-term-outcome-of-laparoscopic-duhamel-procedure-for-extended-hirschsprung-s-disease
#15
Cécile O Muller, Guillaume Rossignol, Louise Montalva, Jerome Viala, Christine Martinez-Vinson, Alexis Mosca, Dominique Berrebi, Arnaud Bonnard
BACKGROUND: The aim of our study was to report our experience in extended Hirschsprung's disease (HD) in children operated on by laparoscopy. PATIENTS AND METHODS: Retrospective data collection from a single center from 1991 to 2013 concerned extended forms of HD operated on by laparoscopic Duhamel procedure and included extension of aganglionosis, comorbidities, short and late postoperative outcome, and results of endoscopy when performed. RESULTS: Thirty patients presented an extended form of aganglionosis: 5 involving the transverse colon, 10 the right colon, and 15 the ileum (median length = 15 cm, range 1-60)...
November 18, 2016: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/27853811/altered-expression-of-il36%C3%AE-and-il36-receptor-il1rl2-in-the-colon-of-patients-with-hirschsprung-s-disease
#16
Christian Tomuschat, Anne Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: Hirschsprung's disease associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in Hirschsprung's disease (HSCR). Altered intestinal epithelial barrier function and abnormal microbiota are implicated in the pathogenesis of HAEC. IL-36γ, a member of the IL-1 superfamily, is involved in host defense and contributes to proinflammatory responses and development of inflammatory diseases. The IL36 receptor (IL1RL2) is an important mediator molecule in the inflammatory response...
November 16, 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27853370/apoptotic-neuron-secreted-hn12-inhibits-cell-apoptosis-in-hirschsprung-s-disease
#17
Chunxia Du, Hua Xie, Rujin Zang, Ziyang Shen, Hongxing Li, Pingfa Chen, Xiaoqun Xu, Yankai Xia, Weibing Tang
Perturbation in apoptosis can lead to Hirschsprung's disease (HSCR), which is a genetic disorder of neural crest development. It is believed that long noncoding RNAs (lncRNAs) play a role in the progression of HSCR. This study shows that apoptotic neurons can suppress apoptosis of nonapoptotic cells by secreting exosomes that contain high levels of HN12 lncRNA. Elevated exogenous HN12 in nonapoptotic cells effectively inhibited cell apoptosis by maintaining the function of mitochondria, including the production of ATP and the release of cytochrome C...
2016: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/27853024/extraskeletal-osteosarcoma-of-the-orbit-a-clinicopathologic-case-report-and-review-of-literature
#18
V M D S de Maeyer, P A F A Kestelyn, Akash D Shah, C M Van Den Broecke, H G N Denys, C E Decock
Primary extraskeletal osteosarcoma (EOS) is an extremely rare malignancy. In this report, the clinical course of a 32-year-old man presenting with proptoses is described. Medical history included Hirschsprung disease (HD), horseshoe kidney, azoospermia, and vertebral anomalies. Imaging of the orbit showed an oval, well-defined heterogeneous mass adjacent to the lateral wall of the orbit. The patient underwent a lateral orbitotomy and complete excision of the mass. The mass was not attached to the bone. Histopathologic and immunohistochemical examination confirmed the diagnosis of an EOS...
September 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27836370/long-term-results-of-the-duhamel-technique-are-superior-to-those-of-the-transanal-pullthrough-a-study-of-fecal-continence-and-quality-of-life
#19
Ana Cristina Aoun Tannuri, Mariana Aparecida Elisei Ferreira, Arthur Loguetti Mathias, Uenis Tannuri
BACKGROUND/PURPOSE: The Duhamel and transanal pull-through (TAPT) techniques have been commonly used for the treatment of children with Hirschsprung disease (HD). However, despite adequate treatment, some patients present with fecal incontinence that severely affects the quality of life (QoL) and lead to psychiatric disorders. The objectives of the present study were to evaluate, through previously adapted questionnaires, the incidence of fecal incontinence and the quality of life (QoL) of children with HD who underwent Duhamel or TAPT techniques...
October 19, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27836361/ultrasound-guided-intrasphincteric-botulinum-toxin-injection-relieves-obstructive-defecation-due-to-hirschsprung-s-disease-and-internal-anal-sphincter-achalasia
#20
Joseph T Church, Samir K Gadepalli, Toghrul Talishinsky, Daniel H Teitelbaum, Marcus D Jarboe
PURPOSE: Chronic obstructive defecation can occur in patients with Hirschsprung Disease (HD) and internal anal sphincter (IAS) achalasia. Injection of Botulinum Toxin (BoTox) into the IAS can temporarily relieve obstructive defecation, but can be challenging when performed by tactile sense alone. We compared results of BoTox injections with and without ultrasound (US) guidance. METHODS: We retrospectively reviewed BoTox injections into the IAS for obstructive defecation over 5years...
October 27, 2016: Journal of Pediatric Surgery
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