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D Roorda, M J Witvliet, L M Wellens, D V Schulten, C E J Sloots, I de Blaauw, P M A Broens, J Oosterlaan, L W E van Heurn, A F W van der Steeg
AIM: Total colonic aganglionosis (TCA) is a severe form of Hirschsprung's Disease (HD) associated with a high morbidity. This study assesses long-term functional outcome and Quality of Life (QoL) of TCA patients in a national consecutive cohort. METHODS: Medical records of all patients (n=53) diagnosed between 1995 and 2015 were reviewed on surgical and demographic characteristics. Functional outcome of all non-syndromal patients, aged ≥ four years (n=35) was assessed in medical records and with a questionnaire...
March 15, 2018: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
Hasong Jeong, Hye Ra Jung, Ilseon Hwang, Sun Young Kwon, Misun Choe, Yu Na Kang, Eunyoung Jung, Sang Pyo Kim
BACKGROUND: Acetylcholinesterase (AchE) histochemistry has been established as an accurate diagnostic tool for Hirschsprung's disease (HD). In addition, calretinin immunohistochemistry is also reported as a reliable and adjunctive method to diagnose HD. We investigated the diagnostic value of combined AchE histochemistry and calretinin immunohistochemistry in rectal suction biopsies from HD and non-HD patients. METHODS: We retrospectively reviewed 99 rectal suction biopsy specimens including 4 repeat biopsies from 95 patients (34 HD and 61 non-HD)...
March 1, 2018: International Journal of Surgical Pathology
Erwin Brosens, Katherine C MacKenzie, Maria M Alves, Robert M W Hofstra
No abstract text is available yet for this article.
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Yali Tian, Tianting Shi, Fang Wang, Yurui Wu
Objective: To analyze and compare the efficacy of laparoscopic modified Soave operation and open radical resection in the treatment of Hirschsprung's disease. Methods: Two hundred and sixteen children who suffered from Hirschsprung's disease and were admitted into the hospital from June 2015 to December 2016 were selected as research subjects. They were grouped into an observation group in which patients were treated by laparoscopic modified Soave operation and open radical resection and a control group in which patients were treated by open radical resection...
November 2017: Pakistan Journal of Medical Sciences Quarterly
Casey M Calkins
Hirschsprung disease (HD) is a common cause of neonatal intestinal obstruction in which a variable segment of the distal intestinal tract lacks the normal enteric nervous system elements. Affected individuals present with varying degrees of obstructive symptoms, but today most patients are diagnosed within the first several months of life owing to the well-recognized symptoms and the ease of making the diagnosis by way of the bedside suction rectal biopsy. Thus, for the adult general or colorectal surgeon, the vast majority of patients who present for evaluation will have already undergone surgical treatment within the first year of life by a pediatric surgeon...
March 2018: Clinics in Colon and Rectal Surgery
Weizhen Liu, Juan Pan, Jinbo Gao, Xiaoming Shuai, Shaotao Tang, Guobin Wang, Kaixiong Tao, Chuanqing Wu
Hirschsprung disease (HSCR) is a newborn colorectal disease characterized by an absence of ganglia in the distal gut. Hedgehog (Hh) and endothelin signaling serve important roles in gastrointestinal tract formation. Alterations in the signaling pathways disrupt the development of enteric neural crest cells (ENCCs). It is not known whether there is any coordination between these pathways in the pathogenesis of HSCR. In the present study, tissue samples from 35 patients with HSCR, including stenotic aganglionosis gut and normal ganglionic gut, were obtained...
February 15, 2018: Molecular Medicine Reports
Clara Sm Tang, Xuehan Zhuang, Wai-Yee Lam, Elly Sau-Wai Ngan, Jacob Shujui Hsu, Y U Michelle, S O Man-Ting, Stacey S Cherny, Ngoc Diem Ngo, Pak C Sham, Paul Kh Tam, Maria-Mercè Garcia-Barcelo
Hirschsprung disease (HSCR) is a complex birth defect characterized by the lack of ganglion cells along a variable length of the distal intestine. A large proportion of HSCR patients remain genetically unexplained. We applied whole-genome sequencing (WGS) on 9 trios where the probands are sporadically affected with the most severe form of the disorder and harbor no coding sequence variants affecting the function of known HSCR genes. We found de novo protein-altering variants in three intolerant to change genes-CCT2, VASH1, and CYP26A1-for which a plausible link with the enteric nervous system (ENS) exists...
February 26, 2018: European Journal of Human Genetics: EJHG
Qiyang Shen, Hua Zhang, Yang Su, Zechao Wen, Zhongxian Zhu, Guanglin Chen, Lei Peng, Chunxia Du, Hua Xie, Hongxing Li, Xiaofeng Lv, Changgui Lu, Yankai Xia, Weibing Tang
Hirschsprung's disease (HSCR) is a complex disorder with multiple pathogenic gene mutations. Protocadherin alpha 9 (PCDHA9) was identified as a potential candidate gene for HSCR by whole-exome sequencing in a Chinese family. Sanger sequencing in 298 HSCR cases revealed two sporadic Chinese patients with a novel missence PCDHΑ9 mutation (NM_031857; c.1280C > T[p.Ala427Val]) and one sporadic Chinese patient with another novel missence PCDHΑ9 mutation (c.1425C > G[p.Phe475Leu]).The silico predictions and 3D modeling suggest the deleterious effect of identified mutations on protein function...
February 22, 2018: Gene
Pedro Palazón, Laura Saura, Irene de Haro, Oriol Martín-Solé, Asteria Albert, Xavier Tarrado, Victoria Julià
PURPOSE: Hirschsprung's disease (HD) is uncommon in females. There are very few reports on the patients' obstetric and gynecological outcome. Hydrosalpinx causes pain and infertility. It is rare in nonsexually active teenagers. It may be because of an intrinsic disease of the fallopian tubes or secondary to surgery. AIM: to describe the relationship between hydrosalpinx and HD or its surgical approach; to report the impact of bilateral hydrosalpinx on fertility in HD...
January 31, 2018: Journal of Pediatric Surgery
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
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
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
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
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
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
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
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
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
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
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
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