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https://www.readbyqxmd.com/read/29458231/perioperative-complications-of-transanal-pull-through-surgery-for-hirschsprung-s-disease
#1
Mikko Pakarinen
Transanal pull-through is currently one of the most commonly used operation to treat Hirschsprung's disease (HD) worldwide. It has undergone some technical modifications during the last decades and still contains variable surgical practices. As high quality comparative studies between different surgical approaches are missing, debate over the optimal operation for HD still continues. Transanal pull-through is associated with multiple potential complications, which may result in permanently impaired functional outcome, life-long morbidity, and significant social restrictions...
February 19, 2018: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29454526/predicting-sexual-problems-in-young-adults-with-an-anorectal-malformation-or-hirschsprung-disease
#2
M J Witvliet, S van Gasteren, D van den Hondel, E Hartman, Lwe van Heurn, Afw van der Steeg
AIM: The aim of this study was to examine the prevalence of sexual dysfunction and distress and to assess whether sexual functioning could be predicted by psychosocial factors in childhood and adolescence in patients with an anorectal malformation or Hirschsprung disease. MATERIAL AND METHODS: In 1998 patients completed a psychosocial questionnaire: The Self-Perception profile. To assess the prevalence of sexual distress and sexual functioning in adulthood (2015) the Female Sexual Function Index (FSFI), The Female Sexual Distress Scale (FSDS) and the International Index of Erectile Functioning (IIEF) were used...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29439660/the-impact-of-down-regulated-sk3-expressions-on-hirschsprung-disease
#3
Gunadi, Mukhamad Sunardi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Kristy Iskandar, Andi Dwihantoro
BACKGROUND: Some Hirschsprung's disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in the HSCR ganglionic intestines. We aimed to investigate the SK3 expression's impact in HSCR patients after a properly performed pull-through surgery in an Indonesian population, a genetically distinct group within Asia...
February 13, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29429767/epidemiological-characteristics-of-hirschsprung-s-disease-hscr-results-of-a-case-series-of-fifty-patients-from-bangladesh
#4
Anwarul Karim, Mastura Akter, Tasmiah T Aziz, Mozammel Hoque, Tanvir K Chowdhury, Md Sharif Imam, Adnan Walid, Mahfuzul Kabir, Manting So, Wai Yee Lam, Clara Sm Tang, Kenneth K Wong, Paul K Tam, Merce Garcia-Barcelo, Tahmina Banu
BACKGROUND: The epidemiology of Hirschsprung's disease (HSCR) in Bangladesh has never been studied. The aim of this study was to determine the epidemiological characteristics of HSCR in Bangladesh. METHODS: Data from fifty patients were collected prospectively from two hospitals in Chittagong, Bangladesh. RESULTS: The rate of consanguinity (16%) among parents of HSCR patients was higher than that of the general population (10%). Maternal age at the time of birth of the affected child was ≤30years in all cases except one...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29429387/long-non-coding-rna-loc100507600-functions-as-a-competitive-endogenous-rna-to-regulate-bmi1-expression-by-sponging-mir128-1-3p-in-hirschsprung-s-disease
#5
Yang Su, Zechao Wen, Qiyang Shen, Hua Zhang, Lei Peng, Guanglin Chen, Zhongxian Zhu, Chunxia Du, Hua Xie, Hongxing Li, Yankai Xia, Weibing Tang
Recently studies reported that long non-coding RNAs (lncRNAs) may take part in a lot of congenital diseases, meanwhile, Hirschsprung's disease (HSCR) is a major congenital digestive tract malformation. Nevertheless whether lncRNAs participate in the occurrence of HSCR and how it contributes to this disease are still unknown. LOC100507600 was selected from our gene expression microarray data obtained from bowel tissues from HSCR patients and negative controls. Subsequently, we used qRT-PCR to prove the result in 64 pairs of HSCR disease bowel stenosis tissues and negative controls...
February 12, 2018: Cell Cycle
https://www.readbyqxmd.com/read/29426767/full-thickness-rectal-biopsy-in-children-suspicious-for-hirschsprung-s-disease-is-safe-and-yields-a-low-number-of-insufficient-biopsies
#6
Niels Bjørn, Lars Rasmussen, Niels Qvist, Sönke Detlefsen, Mark Bremholm Ellebæk
INTRODUCTION: The diagnosis of Hirschsprung's disease (HD) relies on the histological demonstration of aganglionosis in the bowel wall. Biopsies may be obtained by rectal suction biopsy (RSB) or by transanal full-thickness excision biopsy (FTB). The objective of the present study was to evaluate the frequency of complications and inconclusive biopsies after FTB in children referred with suspicion of HD. The secondary objective was to calculate the frequency of proven aganglionosis. METHODS: A retrospective chart review was performed of all patients under the age of 16years who underwent transanal FTB during the time period of 2008-2014...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29419957/-risk-factors-associated-with-the-development-of-enterocolitis-in-hirschsprung-s-disease
#7
M I Romo Muñoz, A Martínez de Aragón, V Núñez Cerezo, C Udaondo, M Sellers, S Barrena, M De Ceano, M López Santamaría, L Martínez Martínez
OBJECTIVES: Hirschsprung's-associated enterocolitis (HAEC) is a live-threatening complication that remains badly understood. Our objective is to identify the risk factors related to the development of HAEC in the cohort of patients with Hirschsprung's disease (HD) treated in our center. METHODS: We reviewed the patients treated for HD between 2000 and 2016. Ninety four patients were included, and the clinical details related to the disease were evaluated. Our primary outcome measure was the development of HAEC...
February 1, 2018: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29383490/altered-goblet-cell-function-in-hirschsprung-s-disease
#8
Hiroki Nakamura, Christian Tomuschat, David Coyle, Anne-Marie O'Donnel, Tristan Lim, Prem Puri
AIMS AND OBJECTIVES: Hirschsprung's disease-associated enterocolitis (HAEC) is the most serious complication of Hirschsprung's disease (HSCR). HAEC occurs in 17-50% of patients with HSCR and may occur before or after a properly performed pull-through operation. The pathogenesis of HAEC is poorly understood. It is well recognized that a complex mucosal barrier protects, as the first line of defense, the surface of healthy intestinal tract from adhesion and invasion by luminal micro-organisms...
February 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29379196/genome-wide-association-study-of-hirschsprung-disease-detects-a-novel-low-frequency-variant-at-the-ret-locus
#9
João Fadista, Marie Lund, Line Skotte, Frank Geller, Priyanka Nandakumar, Sumantra Chatterjee, Hans Matsson, Anna Löf Granström, Tomas Wester, Perttu Salo, Valtter Virtanen, Lisbeth Carstensen, Jonas Bybjerg-Grauholm, David Michael Hougaard, Mikko Pakarinen, Markus Perola, Agneta Nordenskjöld, Aravinda Chakravarti, Mads Melbye, Bjarke Feenstra
Hirschsprung disease (HSCR) is a congenital disorder with a population incidence of ~1/5000 live births, defined by an absence of enteric ganglia along variable lengths of the colon. HSCR genome-wide association studies (GWAS) have found common associated variants at RET, SEMA3, and NRG1, but they still fail to explain all of its heritability. To enhance gene discovery, we performed a GWAS of 170 cases identified from the Danish nationwide pathology registry with 4717 controls, based on 6.2 million variants imputed from the haplotype reference consortium panel...
January 29, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29377512/association-of-nrg1-and-auts2-genetic-polymorphisms-with-hirschsprung-disease-in-a-south-chinese-population
#10
Yan Zhang, Xiaoli Xie, Jixiao Zeng, Qiang Wu, Ruizhong Zhang, Deli Zhu, Huimin Xia
Hirschsprung disease (HSCR) is a genetic disorder characterized by the absence of enteric ganglia. There are more than 15 genes identified as contributed to HSCR by family-based or population-based approaches. However, these findings were not fulfilled to explain the heritability of most sporadic cases. In this study, using 1470 HSCR and 1473 control subjects in South Chinese population, we replicated two variants in NRG1 (rs16879552, P = 1.05E-04 and rs7835688, P = 1.19E-07), and further clarified the two replicated SNPs were more essential for patients with short-segment aganglionosis (SHSCR) (P = 2...
January 29, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29368076/the-socioeconomic-impact-of-a-pediatric-ostomy-in-uganda-a-pilot-study
#11
Arlene Muzira, Nasser Kakembo, Phyllis Kisa, Monica Langer, John Sekabira, Doruk Ozgediz, Tamara N Fitzgerald
INTRODUCTION: Multiple pediatric surgical conditions require ostomies in low-middle-income countries. Delayed presentations increase the numbers of ostomies. Patients may live with an ostomy for a prolonged time due to the high backlog of cases with insufficient surgical capacity. In caring for these patients in Uganda, we frequently witnessed substantial socioeconomic impact of their surgical conditions. METHODS: The operative log at the only pediatric surgery referral center in Uganda was reviewed to assess the numbers of children receiving ostomies over a 3-year period...
January 24, 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29361054/analysis-of-the-human-sox10-mutation-q377x-in-mice-and-its-implications-for-genotype-phenotype-correlation-in-sox10-related-human-disease
#12
Kathrin Truch, Juliane Arter, Tanja Turnescu, Matthias Weider, Anna C Hartwig, Ernst R Tamm, Elisabeth Sock, Michael Wegner
Human SOX10 mutations lead to various diseases including Waardenburg syndrome, Hirschsprung disease, peripheral demyelinating neuropathy, central leukodystrophy, Kallmann syndrome and various combinations thereof. It has been postulated that PCWH as a combination of Waardenburg and Hirschsprung disease, peripheral neuropathy and central leukodystrophy is caused by heterozygous SOX10 mutations that result in the presence of a dominantly acting mutant SOX10 protein in the patient. One such protein with postulated dominant action is SOX10 Q377X...
January 17, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29341296/the-five-year-survival-of-children-with-down-syndrome-in-norway-1994-2009-differed-by-associated-congenital-heart-defects-and-extracardiac-malformations
#13
Kristoffer Brodwall, Gottfried Greve, Elisabeth Leirgul, Kari Klungsøyr, Henrik Holmstrøm, Stein Emil Vollset, Nina Øyen
AIM: We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects (CHDs), their associations with extracardiac malformations (ECM) and survival. METHODS: National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between CHDs and ECM and hazard ratios for death from different combinations of CHDs and ECM...
January 17, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29336779/prophylactic-thyroidectomies-in-men2-syndrome-management-and-outcomes
#14
Virginie Bussières, Shreyas Roy, Johnny Deladoey, Élisabeth Rousseau, Dickens St-Vil, Nelson Piché
AIM OF THE STUDY: The aim of the study was to evaluate the outcomes of prophylactic thyroidectomies performed in an academic setting in the context of multiple endocrine neoplasia type 2 (MEN2) syndrome. METHODS: A chart review of patients <18years old who underwent prophylactic thyroidectomy for a MEN2 syndrome at a children's hospital between 2006 and 2015 was performed. MAIN RESULTS: The study included 21 patients (57% female) with a mean age of 6...
November 13, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29310717/characterization-of-glycosylphosphatidylinositol-biosynthesis-defects-by-clinical-features-flow-cytometry-and-automated-image-analysis
#15
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N Robinson, Helenius J Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M Krawitz
BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS)...
January 9, 2018: Genome Medicine
https://www.readbyqxmd.com/read/29304518/image-processing-and-analysis-of-mucosal-calretinin-staining-to-define-the-transition-zone-in-hirschsprung-disease-a-pilot-study
#16
Saleh Najjar, Sangtae Ahn, Israel Kasago, Chunlai Zuo, Kavita Umrau, Sanaz Ainechi, Christine Whyte, Christine E Sheehan, Suzanne M Homan, Hwajeong Lee
PURPOSE:  Quantification of calretinin-stained mucosal nerve fibers by image processing and analysis (IPA) may objectively define the transition zone (TZ) of Hirschsprung disease (HD). We tested the utility of IPA as an adjunctive tool in HD. MATERIALS AND METHODS:  Calretinin immunostain was performed on 15 HD pull-through specimens, and multiple images were captured from the proximal aganglionic zone, TZ, and probable normal zone (NZ). Pixel count (PC), defined as the percentage of brown-stained pixels in the mucosa, was quantified and plotted against distance from the rectal distal end...
January 5, 2018: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29300049/hirschsprung-disease-integrating-basic-science-and-clinical-medicine-to-improve-outcomes
#17
REVIEW
Robert O Heuckeroth
Hirschsprung disease is defined by the absence of enteric neurons at the end of the bowel. The enteric nervous system (ENS) is the intrinsic nervous system of the bowel and regulates most aspects of bowel function. When the ENS is missing, there are no neurally mediated propulsive motility patterns, and the bowel remains contracted, causing functional obstruction. Symptoms of Hirschsprung disease include constipation, vomiting, abdominal distension and growth failure. Untreated disease usually causes death in childhood because bloodstream bacterial infections occur in the context of bowel inflammation (enterocolitis) or bowel perforation...
January 4, 2018: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29290961/dnmt3b-knock-down-in-enteric-precursors-reveals-a-possible-mechanism-by-which-this-de-novo-methyltransferase-is-involved-in-the-enteric-nervous-system-development-and-the-onset-of-hirschsprung-disease
#18
Ana Torroglosa, Leticia Villalba-Benito, Raquel María Fernández, María José Moya-Jiménez, Guillermo Antiñolo, Salud Borrego
Hirschsprung disease (HSCR, OMIM 142623) is a pathology that shows a lack of enteric ganglia along of the distal gastrointestinal tract. This aganglionosis is attributed to an abnormal proliferation, migration, differentiation and/or survival of enteric precursor cells (EPCs) derived from neural crest cells (NCCs) during the enteric nervous system (ENS) embryogenesis. DNMT3b de novo methyltransferase is associated with NCCs development and has been shown to be implicated in ENS formation as well as in HSCR...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29286936/haddad-syndrome-novel-association-with-braf-mutation
#19
Suleiman Al Dakhoul
This is a report of a 36 week male infant who suffered abdominal distension and difficulty opening bowels within first few days of life and showed a pattern of hypoventilation and apnea associated with sleep. His diagnostic studies confirmed the diagnosis of congenital central hypoventilation syndrome CCHS (PHOX2B mutation) and Hirschsprung's disease and later found a further mutation of BRAF oncogene. This describes a novel association between these mutations and the shared qualities of tumorigenesis between BRAF and PHOX2B...
2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/29280669/-home-and-ambulatory-artificial-nutrition-nadya-group-report-home-parenteral-nutrition-in-spain-2016
#20
Carmina Wanden-Berghe Lozano, Nuria Virgili Casas, Esther Ramos Boluda, Cristina Cuerda Compés, José Manuel Moreno Villares, José Luis Pereira Cunill, Carmen Gómez Candela, Rosa Burgos Peláez, Mª Ángeles Penacho Lázaro, Antonio Pérez de la Cruz, Julia Álvarez Hernández, Montserrat Gonzalo Marín, Pilar Matía Martín, Ceferino Martínez Faedo, Eva Ángeles Sánchez Martos, Alejandro Sanz Paris, Cristina Campos Martín, Tomás Martín Folgueras, M Ángela Martín Palmero, María de Los Ángeles Martín Fontalba, Luis Miguel Luengo Pérez, Ana Zugasti Murillo, María José Martínez Ramírez, Fátima Carabaña Pérez, Cecilia Martínez Costa, Patricia Díaz Guardiola, Cristina Tejera Pérez, Rosa Mª Parés Marimón, José Antonio Irles Rocamora, Carmen Garde Orbaiz, Miguel Ángel Ponce González, María Victoria García Zafra, Rebeca Sánchez Sánchez, Juan Ramón Urgeles Planella, Antxón Apezetxea Celaya, Olga Sánchez-Vilar Burdiel, Clara Joaquín Ortiz, José Pablo Suárez Llanos, Begoña Pintor de la Maza, Pere Leyes García, Mª Carmen Gil Martínez, Silvia Mauri Roca, María José Carrera Santaliestra
OBJECTIVE: To communicate HPN data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2016. MATERIAL AND METHODS: Descriptive analysis of the data collected from adult and pediatric patients with HPN in the NADYA-SENPE group registry from January 1st, 2016 to December 31st, 2016. RESULTS: There were 286 patients from 42 Spanish hospitals (54.2% women), 34 children and 252 adults, with 294 episodes, which represent a prevalence rate of 6...
November 24, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
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