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Hirschsprungs

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28328136/22q11-2q13-duplication-including-sox10-causes-sex-reversal-and-peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-and-hirschsprung-disease
#7
Nadia Falah, Jennifer E Posey, Willa Thorson, Paul Benke, Mustafa Tekin, Brocha Tarshish, James R Lupski, Tamar Harel
Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including SOX10. Sequencing of the coding region of SOX10 did not reveal any mutations...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28319561/pediatric-enteric-neuropathies-diagnosis-and-current-management
#8
Maggie L Westfal, Allan M Goldstein
PURPOSE OF REVIEW: Neurointestinal diseases are increasingly recognized as causes of significant gastrointestinal morbidity in children. This review highlights the most common pediatric enteric neuropathies and their diagnosis and management, emphasizing insights and discoveries from the most recent literature available. RECENT FINDINGS: The embryologic and histopathologic causes of enteric neuropathies are varied. They range from congenital aganglionosis in Hirschsprung disease, to autoimmune-mediated loss of neuronal subtypes in esophageal achalasia and Chagas disease, to degenerative neuropathies in some cases of chronic intestinal pseudo-obstruction and gastroparesis...
March 17, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28285706/radiologist-performance-in-the-interpretation-of-contrast-enemas-performed-for-hirschsprung-s-disease-in-children-1-year-of-age
#9
T J Hwang, S Servaes, P Mattei, S A Anupindi
AIM: To evaluate the diagnostic performance of contrast enemas (CEs) for the diagnosis of Hirschsprung's disease (HD). METHODS AND MATERIALS: CE studies performed as part of an HD workup in patients 1-18 years of age over a 10-year period were identified. All abnormal CE studies and an equal number of age-matched controls were included in the final study group. Two radiologists independently and blindly reviewed all CE studies for quality (scale of 0-3) and the presence of large colon calibre, colon redundancy, transition zone, rectosigmoid ratio, and abnormal contractions...
March 9, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28283986/continuous-transanal-decompression-for-infants-with-long-and-total-type-hirschsprung-s-diseases-as-a-bridge-to-curative-surgery-a-single-center-experience
#10
Kyoko Mochizuki, Masato Shinkai, Norihiko Kitagawa, Hiroshi Take, Hidehito Usui, Takashi Hosokawa, Kaori Yamoto
BACKGROUND: The purpose of this study is to assess the usefulness of continuous bowel decompression using an indwelling transanal tube (ITT) for preoperative management in infants with long-segment (L)- or total (T)-type Hirschsprung's disease (HD). CASE PRESENTATION: Between 2012 and 2015, seven patients with L- or T-type HD underwent preoperative bowel management by continuous bowel decompression using an ITT during waiting period for curative surgery. Continuous bowel decompression was done using an ITT, a 10-12F flexible dual lumen tube placed through the rectum up to the dilated colon under fluoroscopic guidance and secured to the bilateral buttocks...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28280094/hirschsprung-s-disease-in-the-uk-and-ireland-incidence-and-anomalies
#11
T J Bradnock, M Knight, S Kenny, M Nair, G M Walker
OBJECTIVES: To describe clinical characteristics and preoperative management of a national cohort of infants with Hirschsprung's disease (HD). DESIGN: Population-based cohort study of all live-born infants with HD born in the UK and Ireland from October 2010 to September 2012. SETTING: All 28 paediatric surgical centres in the UK and Ireland. PARTICIPANTS: 305 infants presenting before 6 months of age with histologically proven HD...
March 9, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28277559/association-of-a-novel-nonsense-mutation-in-kiaa1279-with-goldberg-shprintzen-syndrome
#12
Shadab Salehpour, Feyzollah Hashemi-Gorji, Ziba Soltani, Soudeh Ghafouri-Fard, Mohammad Miryounesi
Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the brain. This syndrome has been associated with KIAA1279 gene mutations at 10q22.1. Here we report a 16 yr old male patient referred to Center for Comprehensive Genetic Services, Tehran, Iran in 2015 with cardinal features of GOSHS in addition to refractory seizures...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28276298/a-scoring-system-to-predict-the-severity-of-hirschsprung-disease-at-diagnosis-and-its-correlation-with-molecular-genetics
#13
Raquel Núñez-Ramos, Raquel M Fernández, Miguel González-Velasco, Jesús Ruiz-Contreras, Enrique Galán-Gómez, Ramón Núñez-Núñez, Salud Borrego
Objectives Hirschsprung disease (HSCR) has a wide range of severity. There are nonsevere forms treated conservatively until surgery and severe forms that require an early stoma and prolonged hospitalization. Our objective was to establish a clinical scoring system to predict the severity of HSCR and to evaluate the possible existence of a clinical-genetic correlation. Methods We carried out a retrospective observational study including all HSCR cases treated in our hospital. The sample was divided into severe and nonsevere disease according to the number of surgical procedures, hospitalization time, and episodes of enterocolitis...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28274275/whole-exome-sequencing-coupled-with-unbiased-functional-analysis-reveals-new-hirschsprung-disease-genes
#14
Hongsheng Gui, Duco Schriemer, William W Cheng, Rajendra K Chauhan, Guillermo Antiňolo, Courtney Berrios, Marta Bleda, Alice S Brooks, Rutger W W Brouwer, Alan J Burns, Stacey S Cherny, Joaquin Dopazo, Bart J L Eggen, Paola Griseri, Binta Jalloh, Thuy-Linh Le, Vincent C H Lui, Berta Luzón-Toro, Ivana Matera, Elly S W Ngan, Anna Pelet, Macarena Ruiz-Ferrer, Pak C Sham, Iain T Shepherd, Man-Ting So, Yunia Sribudiani, Clara S M Tang, Mirjam C G N van den Hout, Herma C van der Linde, Tjakko J van Ham, Wilfred F J van IJcken, Joke B G M Verheij, Jeanne Amiel, Salud Borrego, Isabella Ceccherini, Aravinda Chakravarti, Stanislas Lyonnet, Paul K H Tam, Maria-Mercè Garcia-Barceló, Robert M W Hofstra
BACKGROUND: Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies that have searched for genes underlying HSCR have focused on ENS-related pathways and genes not fitting the current knowledge have thus often been ignored. We identify and validate novel HSCR genes using whole exome sequencing (WES), burden tests, in silico prediction, unbiased in vivo analyses of the mutated genes in zebrafish, and expression analyses in zebrafish, mouse, and human...
March 8, 2017: Genome Biology
https://www.readbyqxmd.com/read/28272213/transanal-pullthrough-soave-and-swenson-techniques-for-pediatric-patients-with-hirschsprung-disease
#15
Xu Bing, Chuancheng Sun, Zhongrong Wang, Yilin Su, Hua Sun, Liang Wang, Xiyang Yu
Both the Swenson and the Soave procedures have been adapted as transanal approaches. Our purpose is to compare the outcomes and complications between transanal Swenson and Soave procedures.This clinical analysis involved a retrospective series of 148 pediatric patients with HD from Dec, 2001, to Dec, 2015. Perioperative/operative characteristics, postoperative complications, and outcomes between the 2 groups were analyzed. Students' t-test and chi-squared analysis were performed.In total 148 patients (Soave 69, Swenson 79) were included in our study...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28256518/effects-of-ret-nrg1-and-nrg3-polymorphisms-in-a-chinese-population-with-hirschsprung-disease
#16
Dehua Yang, Jun Yang, Shuai Li, Meng Jiang, Guoqing Cao, Li Yang, Xi Zhang, Ying Zhou, Kang Li, Shao-Tao Tang
The RET proto-oncogene was identified as a major locus involved in Hirschsprung disease (HSCR). A genome-wide association study (GWAS) and whole exome sequencing identified NRG1 and NRG3 as additional HSCR susceptibility loci. We investigated the effects of RET (rs2506030 and rs2435357), NRG1 (rs2439302, rs16879552 and rs7835688) and NRG3 (rs10748842, rs10883866 and rs6584400) polymorphisms in a Chinese population with HSCR. We assessed single nucleotide polymorphisms (SNPs) in the RET, NRG1 and NRG3 genes in a cohort of 362 sporadic HSCR patients and 1,448 normal controls using a TaqMan genotyping assay...
March 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28256032/localization-of-the-5-hydroxytryptamine-4-receptor-in-equine-enteric-neurons-and-extrinsic-sensory-fibers
#17
F Giancola, A M Rambaldi, F Bianco, S Iusco, N Romagnoli, C Tagliavia, C Bombardi, P Clavenzani, R De Giorgio, R Chiocchetti
BACKGROUND: Serotonin plays a pivotal role in regulating gut motility, visceral sensitivity, and fluid secretion via specific receptors. Among these receptors, 5-HT4 exerts a prominent control on gut motor function. Although the prokinetic effect exerted by 5-HT4 agonists is well known, the cellular sites of 5-HT4 expression remain poorly understood in large mammals, e.g., horses. In this study, we evaluated the distribution of 5-HT4 in the horse intestine and in foals with enteric aganglionosis, reminiscent of human Hirschsprung's disease...
March 3, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28247672/-a-giant-fecalith-complicated-by-acute-urinary-retention-hydronephrosis-and-acute-obstructive-pyelonephritis
#18
M I Davidov
The article reports a rare case of a 30-year-old man with Hirschsprung's disease, who developed a giant fecalith in the rectum and sigmoid (weight 3.5 kg, the largest diameter 20 cm). The fecalith impaired urine flow by compressing urinary tract, thereby causing acute urinary retention and right-sided hydronephrosis with acute obstructive pyelonephritis. Removing fecalith resulted in the patient recovery and normal functioning of genitourinary system.
April 2016: Urologii︠a︡
https://www.readbyqxmd.com/read/28242026/surgical-approach-for-fecal-incontinence-with-a-patulous-anus-after-transanal-pull-through-for-hirschsprung-disease
#19
Yoshitomo Yasui, Syoichi Nishida, Tsubasa Shironomae, Miwa Satomi, Tsuyoshi Kuwahara, Miyuki Kohno
BACKGROUND: We have performed transanal pull-through (TAPT) for Hirschsprung disease since 1998. Some of our patients after TAPT showed a patulous anus and suffered from severe true fecal incontinence. We performed anal canal plasty for these patients and evaluated its efficacy in restoring anorectal function. METHODS: Thirty-one patients who were ≥5years old were previously operated on for Hirschsprung disease, and seven (22.5%) of these were indicated for this procedure...
February 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28239325/crohn-s-disease-with-ankylosing-spondylitis-in-an-adolescent-patient-who-had-undergone-long-ileo-colonic-anastomosis-for-hirschsprung-s-disease-as-an-infant
#20
Ha Yeon Kim, Tae Wook Kim
Crohn's disease (CD) is a chronic, idiopathic, inflammatory disorder of the gastrointestinal tract. In rare cases, CD has been associated with Hirschsprung's disease (HD); however, the underlying pathophysiology of this and other comorbidities is not yet fully understood. In this report, we describe the case of a 17-year-old patient who was diagnosed with both CD and ankylosing spondylitis (AS), having undergone a long ileo-colonic anastomosis to treat HD at 12 months of age. To our knowledge, this is the first documented case of CD combined with AS in a patient with HD...
January 2017: Intestinal Research
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