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Hirschsprung's

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https://www.readbyqxmd.com/read/28433712/common-phox2b-poly-alanine-contractions-impair-ret-gene-transcription-predisposing-to-hirschsprung-disease
#1
Eleonora Di Zanni, Annalisa Adamo, Elga Belligni, Margherita Lerone, Giuseppe Martucciello, Girolamo Mattioli, Alessio Pini Prato, Roberto Ravazzolo, Margherita Silengo, Tiziana Bachetti, Isabella Ceccherini
HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28424865/immunostaining-for-hu-c-d-and-cd56-is-useful-for-a-definitive-histopathological-diagnosis-of-congenital-and-acquired-isolated-hypoganglionosis
#2
Koichiro Yoshimaru, Tomoaki Taguchi, Satoshi Obata, Junkichi Takemoto, Yoshiaki Takahashi, Tsuyoshi Iwanaka, Yusuke Yanagi, Masaaki Kuda, Kina Miyoshi, Toshiharu Matsuura, Yoshiaki Kinoshita, Takako Yoshioka, Atsuko Nakazawa, Yoshinao Oda
Isolated hypoganglionosis (IHG) has been proposed as a distinct entity with two subtypes: congenital IHG (CIHG) and acquired IHG (AIHG). However, due to the rarity of the disease and the lack of defining histological criteria, the concept of IHG is not widely accepted. We studied paraffin-embedded intestinal specimens from 79 patients diagnosed with Hirschsprung's disease (HD) (n = 49), CIHG (n = 25), and AIHG (n = 5) collected between January 1996 and December 2015. Histopathological diagnosis of HD, CIHG, and AIHG was confirmed by hematoxylin and eosin staining and immunohistochemical staining using Hu C/D and CD56...
April 19, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28422456/variable-phenotype-in-a-novel-mutation-in-phox2b
#3
Rachel C Lombardo, Elizabeth Kramer, James F Cnota, Hemant Sawnani, Robert J Hopkin
We evaluated a family with three siblings, two of whom ages 2 years and 19 months, had long segment colonic agangliosis and anisocoria. The mother also had anisocoria. All three affected family members were mildly dysmorphic with a flat facial profile, square appearance to the face, depressed nasal bridge, and anteverted nares. Genetic testing identified a novel heterozygous mutation, c.234C>G, resulting in a premature stop codon in exon 1 of the PHOX2B gene. Screening for neural crest tumors was performed in the siblings and to date has been negative...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28422173/critical-involvement-of-zeb2-in-collagen-fibrillogenesis-the-molecular-similarity-between-mowat-wilson-syndrome-and-ehlers-danlos-syndrome
#4
Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano
Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28412032/upregulation-of-mir-369-3p-suppresses-cell-migration-and-proliferation-by-targeting-sox4-in-hirschsprung-s-disease
#5
Weikang Pan, Hui Yu, Baijun Zheng, Ya Gao, Peng Li, Qiang Huang, Chong Xie, Xin Ge
BACKGROUND: Hirschsprung disease (HSCR) is a congenital digestive disease in the new born. miR-369-3p has been reported to be involved in many human diseases. However, the relationship between miR-369-3p and HSCR remains largely unknown. METHODS: In this study, qRT-PCR was used to detect the relative expression of miR-369-3p in 60 HSCR bowel tissue samples and 47 matched controls. Bioinformatic analysis and dual-luciferase reporter assay were performed to evaluate the target for miR-369-3p...
April 8, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28399120/sotos-syndrome-associated-with-hirschsprung-s-disease-a-new-case-and-exome-sequencing-analysis
#6
Cherry Ann Sio, Kyuwhan Jung, Jeong-Hyun Kim, Hyun Sub Cheong, Eun Shin, Hyejin Jang, Miok Yoon, Huijeong Jang, Hyoung Doo Shin
BACKGROUND: Sotos syndrome (SoS) is an overgrowth disorder with various congenital anomalies and is usually accompanied by other clinical problems. However, anorectal malformations have not been documented as part of the SoS entity. Our objective is to report on a case of SoS associated with Hirschsprung's disease (HSCR) and subsequent genetic analysis. METHODS: A 2 year old male with SoS experienced constipation since infancy and ultimately showed an aganglionic segment in the histopathologic examination and was followed by exome sequencing analysis...
April 11, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28390600/sox10-mutation-causes-waardenburg-syndrome-associated-with-distinctive-phenotypic-features-in-an-iranian-family-a-clue-for-phenotype-directed-genetic-analysis
#7
Nazanin Jalilian, Mohammad Amin Tabatabaiefar, Hossein Alimadadi, Mohammad Reza Noori-Daloii
BACKGROUND: Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or Shah-Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung disease (HD). Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4. This study was aimed to determine the pathogenic variant in an Iranian pedigree affected with WS4...
May 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28385428/pathologically-assessed-grade-of-hirschsprung-associated-enterocolitis-in-resected-colon-in-children-with-hirschsprung-s-disease-predicts-postoperative-bowel-function
#8
Siyang Cheng, Jun Wang, Weihua Pan, Wenbo Yan, Jia Shi, Wenbin Guan, Yang Wang, Wei Cai
PURPOSE: The aim of this study was to investigate the relationship between the grade of enterocolitis on pathological assessment of resected colon and postoperative bowel function in children with Hirschsprung's disease (HD). METHODS: Children with HD who were seen at a large tertiary center from January 2012 to December 2013 were enrolled into this study. Resected colon was assessed using the histopathologic grade scoring system for Hirschsprung-associated enterocolitis (HAEC), and the relationship of these scores to postoperative bowel function was assessed...
March 28, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28373976/treatment-and-patient-reported-outcome-in-children-with-hirschsprung-disease-and-concomitant-congenital-heart-disease
#9
Johan Hasserius, Josefine Hedbys, Christina Graneli, Kristine Hagelsteen, Pernilla Stenström
Purpose. Congenital heart disease (CHD) is reported to be associated with Hirschsprung disease (HD). The aim was to evaluate any differences between children with HD with and without CHD, respectively, with regard to patient characteristics, medical care, and patient reported bowel function. Method. This is a retrospective chart study and a cross-sectional long-term follow-up of patients older than 4 years old, including all children with HD operated on with transanal endorectal pull-through (TERPT) at a tertiary center of pediatric surgery...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28371199/nonsense-pathogenic-variants-in-exon-1-of-phox2b-lead-to-translational-reinitiation-in-congenital-central-hypoventilation-syndrome
#10
Jacob T Cain, Dae I Kim, Megan Quast, Winnie G Shivega, Ryan J Patrick, Chuanpit Moser, Suzanne Reuter, Myrza Perez, Angela Myers, Jill M Weimer, Kyle J Roux, Megan Landsverk
Pathogenic variants in PHOX2B lead to congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by autonomic dysregulation and hypoventilation typically presenting in the neonatal period, although a milder late-onset (LO) presentation has been reported. More than 90% of cases are caused by polyalanine repeat mutations (PARMs) in the C-terminus of the protein; however non-polyalanine repeat mutations (NPARMs) have been reported. Most NPARMs are located in exon 3 of PHOX2B and result in a more severe clinical presentation including Hirschsprung disease (HSCR) and/or peripheral neuroblastic tumors (PNTs)...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28367493/diagnosis-symptoms-and-outcomes-of-hirschsprung-s-disease-from-the-perspective-of-gender
#11
Christina Granéli, Eero Dahlin, Anna Börjesson, Einar Arnbjörnsson, Pernilla Stenström
Background/Aim. Hirschsprung's disease (HD) has a skewed gender distribution, with a female to male ratio of 1 : 4. This study aims to examine differences between boys and girls with HD regarding preoperative features and postoperative treatment and outcome. Method. The first part of the study was conducted as a retrospective review of all HD patients who underwent transanal endorectal pull-through (TERPT). Pre-, peri-, immediate post-, and first-year postoperative data were collected. The second part was conducted as an observational cross-sectional study by comparing bowel function scores (BFS) determined by structured interviews of patients 4 years old and older...
2017: Surgery Research and Practice
https://www.readbyqxmd.com/read/28367019/immunohistochemistry-based-comparative-study-in-detection-of-hirschsprung-s-disease-in-infants-in-a-tertiary-care-center
#12
Bedabrata Mukhopadhyay, Moumita Sengupta, Chhanda Das, Madhumita Mukhopadhyay, Shibsankar Barman, Biswanath Mukhopadhyay
BACKGROUND: Hirschsprung's disease (HD) is the major cause of pediatric intestinal obstruction with a complex pattern of inheritance. The absence of ganglion cells along with an analysis of hypertrophy and hyperplasia of nerves in the nerve plexus of submucosa and muscularis mucosae is regarded as a potential hallmark for its diagnosis. AIMS AND OBJECTIVES: This study was undertaken to ascertain the (1) clinical profile, (2) mode of presentation, and (3) to compare the role of calretinin immunostaining with acetylcholinesterase in the diagnosis of HD...
April 2017: Journal of Laboratory Physicians
https://www.readbyqxmd.com/read/28362695/anxiety-associated-with-high-resolution-anorectal-manometry-in-pediatric-patients-and-parents
#13
Katherine Lamparyk, Lori Mahajan, Ashley Debeljak, Rita Steffen
High resolution anorectal manometry (HRM) is an increasingly common procedure performed in pediatric patients to rule out Hirschsprungs as well as assess anorectal function and sensation. The purpose of this study was to evaluate anxiety of patients and their parents associated with HRM. Pre-procedural anxiety was assessed by standardized questionnaire in all parents and children over the age of 8 and observed behavioral distress was recorded by the attending pediatric gastroenterologist. Thirty-five children (mean age = 7...
March 30, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28349968/neural-crest-cells-contribute-an-astrocyte-like-glial-population-to-the-spleen
#14
Amanda J Barlow-Anacker, Ming Fu, Christopher S Erickson, Federica Bertocchini, Ankush Gosain
Neural crest cells (NCC) are multi-potent cells of ectodermal origin that colonize diverse organs, including the gastrointestinal tract to form the enteric nervous system (ENS) and hematopoietic organs (bone marrow, thymus) where they participate in lymphocyte trafficking. Recent studies have implicated the spleen as an anatomic site for integration of inflammatory signals from the intestine with efferent neural inputs. We have previously observed alterations in splenic lymphocyte subsets in animals with defective migration of NCC that model Hirschsprung's disease, leading us to hypothesize that there may be a direct cellular contribution of NCC to the spleen...
March 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28342760/correction-of-hirschsprung-associated-mutations-in-human-induced-pluripotent-stem-cells-via-crispr-cas9-restores-neural-crest-cell-function
#15
Frank Pui-Ling Lai, Sin-Ting Lau, John Kwong-Leong Wong, Hongsheng Gui, Reeson Xu Wang, Tingwen Zhou, Wing Hon Lai, Hung-Fat Tse, Paul Kwong-Hang Tam, Maria-Mercedes Garcia-Barcelo, Elly Sau-Wai Ngan
BACKGROUND & AIM: Hirschsprung disease is caused by failure of enteric neural crest cells (ENCCs) to fully colonize the bowel, leading to bowel obstruction and megacolon. Heterozygous mutations in the coding region of the RET gene cause a severe form of Hirschsprung disease (total colonic aganglionosis). However, 80% of HSCR patients have short-segment Hirschsprung disease (S-HSCR), which has not been associated with genetic factors. We sought to identify mutations associated S-HSCR, and used the CRISPR/Cas9 gene editing system to determine how mutations affect ENCC function...
March 22, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28341232/lower-urinary-tract-symptoms-and-sexual-functions-after-endorectal-pull-through-for-hirschsprung-disease-controlled-long-term-outcomes
#16
Malla Neuvonen, Kristiina Kyrklund, Seppo Taskinen, Antti Koivusalo, Risto J Rintala, Mikko P Pakarinen
BACKGROUND/PURPOSE: To define the prevalence of lower urinary tract symptoms (LUTS) and outcomes for sexual function after endorectal pull-through (EPT) for Hirschsprung disease (HD) compared to controls. To date, similar controlled studies are lacking. METHODS: Patients aged ≥4years (n=123) operated on for HD at our center between 1987 and 2011 were invited to answer questionnaires on LUTS and sexual function (aged ≥16years). Patients with an intellectual disability and patients with a definitive endostomy were excluded...
March 6, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28341231/rectal-suction-biopsy-with-calretinin-immunohistochemistry-in-patients-suspected-with-residual-aganglionosis-after-operation-for-hirschsprung-disease
#17
Viet Quoc Tran, Dinh Quang Truong, Philippe Goyens, Henri Steyaert
INTRODUCTION: This study investigates the use of rectal suction biopsy (RSB) with calretinin immunohistochemical staining (CIS) in patients suspected of having abnormally innervated bowel after pull through operation for Hirschsprung disease (HD). METHOD: This study was conducted in Children's Hospital 2, Ho Chi Minh City from January 2015 through June 2016. Patients suspected with abnormally innervated bowel after pull through operation for HD were submitted for a RSB with CIS...
March 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28337824/phenotype-genotype-correlations-of-pigo-deficiency-with-variable-phenotypes-from-infantile-lethality-to-mild-learning-difficulties
#18
Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, Nobuhiko Okamoto, Daisuke Fukushi, Koji Tominaga, Hiroyuki Kidokoro, Yukako Muramatsu, Eriko Nishi, Shota Nakamura, Daisuke Motooka, Noriko Nomura, Kiyoshi Hayasaka, Tetsuya Niihori, Yoko Aoki, Shin Nabatame, Masahiro Hayakawa, Jun Natsume, Keiichi Ozono, Taroh Kinoshita, Nobuaki Wakamatsu, Yoshiko Murakami
Inherited GPI (glycosylphosphatidylinositol) deficiencies (IGDs), a recently defined group of diseases, show a broad spectrum of symptoms. Hyperphosphatasia mental retardation syndrome, also known as Mabry syndrome, is a type of IGDs. There are at least 26 genes involved in the biosynthesis and transport of GPI-anchored proteins; however, IGDs constitute a rare group of diseases, and correlations between the spectrum of symptoms and affected genes or the type of mutations have not been shown. Here, we report four newly identified and five previously described Japanese families with PIGO (phosphatidylinositol glycan anchor biosynthesis class O) deficiency...
March 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28334784/testing-the-ret-and-sema3d-genetic-interaction-in-mouse-enteric-nervous-system-development
#19
Ashish Kapoor, Dallas R Auer, Dongwon Lee, Sumantra Chatterjee, Aravinda Chakravarti
For most multigenic disorders, clinical manifestation (penetrance) and presentation (expressivity) are likely to be an outcome of genetic interaction between multiple susceptibility genes. Here, using gene knockouts in mice we evaluated genetic interaction between loss of Ret and loss of Sema3d, two Hirschsprung disease susceptibility genes. We intercrossed Ret and Sema3d double null heterozygotes to generate mice with the nine possible genotypes and assessed survival by counting various genotypes, myenteric plexus presence by acetylcholinesterase staining and embryonic day 12...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28328696/enterocolitis-in-a-child-with-hirschsprung-disease
#20
Alexander W D Guillaume, Andrew C Miller, Michael C Nguyen
Hirschsprung disease is a congenital abnormality that can be surgically corrected. However, Hirschsprung-associated enterocolitis can be a life-threatening sequela. Very little has been published in the emergency medicine literature about the risk of enterocolitis and shock in patients with a history of Hirschsprung disease. We describe the case of a 6-month-old male infant with a history of multiple surgeries for Hirschsprung disease who presented to the emergency department with a seemingly benign viral gastrointestinal illness...
March 21, 2017: Pediatric Emergency Care
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